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
CDH7_chr18_65746012_65895337	65782107	C C	CTTCCTTC others(45): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTT TCT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0021 a0002c0002t0036g0021	1	208	0.0048	52	c.210 others(71): Show c.210+19058_210+19059insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTCTTTCTTTCTTTCTTTC	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65830721	C C	CTCTTTCT others(45): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18966.hp1 HG03831.hp2 NA18966.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0097 a0002c0002t0010 a0002c0002t0097	a0002c0002t0010g0044 a0002c0002t0097g0065 a0002c0002t0010g0044 a0002c0002t0097g0065	2	208	0.0096	52	c.981 others(69): Show c.981+5893_981+5894insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65844174	G G	GATTTATA others(45): Show GATTTATATATATATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0075 a0002c0002t0075	a0002c0002t0075g0108 a0002c0002t0075g0108	1	208	0.0048	52	c.123 others(69): Show c.1235+111_1235+112insTTATATATATATATATATATATATATAT ATATATATATATATATATATATAT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH8_chr16_61642250_62041438	61960254	C C	CACACATA others(45): Show CACACATATATACGTGTGTGTGTATACACACACATATATACGTGTGTGTG TAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0011 a0001c0008t0011	a0001c0008t0011g0151 a0001c0008t0011g0151	1	168	0.0060	52	c.253 others(71): Show c.253-58782_253-58781insATACACACACACGTATATATGTGTGT GTATACACACACACGTATATATGTGT	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDH9_chr5_26875597_27043586	26977489	A A	ATATATAT others(45): Show ATATATATATATATATATATATATGTATATATATATATATATATATATAT ATG	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA21309.hp1 HG02818.hp2 NA21309.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0158 a0003c0003t0001g0133 a0002c0002t0001g0158 a0003c0003t0001g0133	2	240	0.0083	52	c.228 others(71): Show c.228+10616_228+10617insCATATATATATATATATATATATATA TACATATATATATATATATATATATA	CDH9	ENSG00000113100.10	transcript	ENST00000231021.9	protein_coding	2/11			chr5	TogoVar
CDKAL1_chr6_20529457_21237404	20992208	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATATATATATATATATGT ATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0022 a0001c0004t0007g0022	1	196	0.0051	52	c.910 others(69): Show c.910-8016_910-8015insATATATATATATATATATATATATATAT ATATATATATATATATGTATGTAT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDON_chr11_125951821_126067866	125974394	G G	GAGGGAGG others(45): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGA GGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0058 a0001c0001t0049g0058	1	334	0.0030	52	c.335 others(71): Show c.3356+3909_3356+3910insTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	18/19			chr11	TogoVar
CDON_chr11_125951821_126067866	125974402	G G	GAGGGAGG others(45): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGA GGA	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA18966.hp1 HG01255.hp2 NA18966.hp1	a0001 a0006 a0001 a0006	a0001c0021 a0006c0011 a0001c0021 a0006c0011	a0001c0021t0064 a0006c0011t0002 a0001c0021t0064 a0006c0011t0002	a0001c0021t0064g0094 a0006c0011t0002g0105 a0001c0021t0064g0094 a0006c0011t0002g0105	2	334	0.0060	52	c.335 others(71): Show c.3356+3901_3356+3902insTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	18/19			chr11	TogoVar
CDON_chr11_125951821_126067866	125974402	G G	GAGGGAGG others(45): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0150 a0002c0003t0005g0150	1	334	0.0030	52	c.335 others(71): Show c.3356+3901_3356+3902insTCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	18/19			chr11	TogoVar
CDS1_chr4_84578127_84656334	84635625	G G	GCCTGCCT others(45): Show GCCTGCCTGCCTGCCTGCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	384	0.0026	52	c.810 others(67): Show c.810+277_810+278insGCCTGCCTGCCTGCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCT	CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CDYL_chr6_4771404_4960544	4894856	T T	TGTGTGTG others(45): Show TGTGTGTGTGTGTGTATGTGTATATACACACGTGTATGTGTGTATATATA CAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02809.hp1 HG02145.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0002g0047 a0001c0001t0001g0010 a0001c0001t0002g0047	2	250	0.0080	52	c.691 others(69): Show c.691+2477_691+2478insGTGTGTGTGTGTGTATGTGTATATACAC ACGTGTATGTGTGTATATATACAC	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6			chr6	TogoVar
CDYL_chr6_4771404_4960544	4895265	A A	ACATGTAT others(45): Show ACATGTATGTATATATGTGCATATATGCATGTATGTATATATGTGCATAT ATG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03579.hp1 HG01884.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0154 a0001c0001t0002g0114 a0001c0001t0002g0154	2	250	0.0080	52	c.691 others(69): Show c.691+2972_691+3023dupGTATATATGTGCATATATGCATGTATGT ATATATGTGCATATATGCATGTAT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4895427	A A	ATGTGTAT others(45): Show ATGTGTATATATGTGCATATGTACATGCATGTATGTGTATATATGTGCAT ATG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	250	0.0040	52	c.691 others(69): Show c.691+3049_691+3050insGTGTATATATGTGCATATGTACATGCAT GTATGTGTATATATGTGCATATGT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4895427	A A	ATGTGTAT others(45): Show ATGTGTATATATGTGCATATGTACATGTATGTATGTGTATATATGTGCAT ATG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02698.hp2 HG03942.hp2 HG01257.hp2 HG02698.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0213 a0001c0001t0002g0068 a0001c0001t0002g0093 a0001c0001t0001g0213 a0001c0001t0002g0068 a0001c0001t0002g0093	3	250	0.0120	52	c.691 others(69): Show c.691+3049_691+3050insGTGTATATATGTGCATATGTACATGTAT GTATGTGTATATATGTGCATATGT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CELF5_chr19_3219661_3302076	3235654	A A	ATGGATGG others(45): Show ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGTGTGGAT GGG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03831.hp2 HG02895.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0247 a0001c0001t0004g0109 a0001c0001t0002g0247 a0001c0001t0004g0109	2	262	0.0076	52	c.259 others(71): Show c.259+10682_259+10683insGATGGATGGATGGATGTGTGGATGGG TGGATGGATGGATGGATGGATGGATG	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CEMIP2_chr9_71678366_71773513	71728267	A A	ATATATAT others(45): Show ATATATATACGTATATATATATATACGTATATATATATATATATATATAT ACG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0004 a0009c0016t0004	a0009c0016t0004g0135 a0009c0016t0004g0135	1	320	0.0031	52	c.204 others(71): Show c.2049+1577_2049+1578insCGTATATATATATATATATATATATA CGTATATATATATATACGTATATATA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71756191	C C	CTAGATAG others(45): Show CTAGATAGATAGATGGATAGATAGATAGATAGATAGATAGATAGATAGAT AGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG04199.hp2 HG02257.hp2 HG04199.hp2	a0005 a0005	a0005c0004 a0005c0017 a0005c0004 a0005c0017	a0005c0004t0001 a0005c0017t0001 a0005c0004t0001 a0005c0017t0001	a0005c0004t0001g0232 a0005c0017t0001g0230 a0005c0004t0001g0232 a0005c0017t0001g0230	2	320	0.0063	52	c.-12 others(69): Show c.-12-5807_-12-5806insTCTATCTATCTATCTATCTATCTATCTA TCTATCTATCCATCTATCTATCTA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	1/23			chr9	TogoVar
CENPC_chr4_67463762_67550503	67491465	A A	AGAGAGAG others(45): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGCCTGGT TGT	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0087 a0002c0002t0003g0087	1	338	0.0030	52	c.251 others(69): Show c.2515+714_2515+715insACAACCAGGCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTC	CENPC	ENSG00000145241.11	transcript	ENST00000273853.11	protein_coding	16/18			chr4	TogoVar
CENPJ_chr13_24877279_24927861	24881984	A A	ATAGATAC others(45): Show ATAGATACATCTATATAGATACATCTATATAGATACATCTATATAGATAC ATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA19012.hp1 NA19079.hp1 NA18969.hp1 NA19012.hp1 NA19079.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0008 a0001c0004t0001g0012 a0001c0004t0001g0245 a0001c0004t0001g0008 a0001c0004t0001g0012 a0001c0004t0001g0245	3	440	0.0068	52	c.11 others(63): Show c.1192_*1193insGATGTATCTATATAGATGTATCTATATAGATGTA TCTATATAGATGTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		294		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882088	A A	ATATAGAT others(45): Show ATATAGATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0006 a0005c0008t0006	a0005c0008t0006g0014 a0005c0008t0006g0014	1	440	0.0023	52	c.10 others(63): Show c.1088_*1089insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATCTATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		190		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882090	A A	ATAGATAT others(45): Show ATAGATATATAATCTATATAGATACATCTATATAGATATATAATCTATAT AGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01978.hp2 HG02074.hp1 others(14): Show HG00621.hp1 HG01978.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp2 HG02486.hp1 HG02602.hp1 NA18944.hp1 NA18951.hp2 NA18957.hp1 NA18978.hp1 NA18987.hp2 NA18989.hp2 NA19070.hp1 NA19070.hp2 NA19083.hp1 NA20752.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0003 a0002c0003t0003g0036 a0002c0003t0003g0037 others(9): Show a0002c0003t0003g0003 a0002c0003t0003g0036 a0002c0003t0003g0037 a0002c0003t0003g0098 a0002c0003t0003g0099 a0002c0003t0003g0102 a0002c0003t0003g0108 a0002c0003t0003g0109 a0002c0003t0003g0114 a0002c0003t0003g0118 a0002c0003t0003g0123 a0002c0003t0003g0124	17	440	0.0386	52	c.10 others(63): Show c.1086_*1087insGCTATATAGATTATATATCTATATAGATGTATCT ATATAGATTATATATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		188		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882133	G G	GATACATC others(45): Show GATACATCTATATAGATACATCTATATAGATACATCTATATAGATACATC TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0006 a0001c0010t0006	a0001c0010t0006g0086 a0001c0010t0006g0086	1	440	0.0023	52	c.10 others(63): Show c.1043_*1044insATAGATGTATCTATATAGATGTATCTATATAGAT GTATCTATATAGATGTAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		145		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882151	G G	GATACATC others(45): Show GATACATCTATATAGATACATCTATATAGATACATCTATATAGATACATC TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0006 a0005c0008t0006	a0005c0008t0006g0014 a0005c0008t0006g0014	1	440	0.0023	52	c.10 others(63): Show c.1025_*1026insATAGATGTATCTATATAGATGTATCTATATAGAT GTATCTATATAGATGTAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		127		chr13	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTGTGT others(45): Show GTGTGTGTGTGTGTATACATATATATATATATATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0140 a0001c0001t0003g0140	1	260	0.0039	52	c.467 others(69): Show c.467+6719_467+6720insGTGTGTGTGTGTATACATATATATATAT ATATATATATATATATATATATAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92567373	G G	GATATATA others(45): Show GATATATATATATATATATATATATATATATATATATATATATATATATA GAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	260	0.0039	52	c.565 others(71): Show c.565-43918_565-43917insTATATATATATATATATATATATATA GATATATATATATATATATATATATA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEP170B_chr14_104860268_104901747	104884896	C C	CGGGGGGG others(45): Show CGGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGG AAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	328	0.0031	52	c.177 others(69): Show c.1770+302_1770+353dupGTGGAGGTGATGCCGGGGGTGGCGAGTG AGAGCCCTCGTGGGGAACGGGGGG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP72_chr5_607340_658553	650363	T T	TGGACTGT others(45): Show TGGACTGTGAGGTGTGACTGTGAGGCGTGACTGTGAGGCGTGACTGAGGC GTG	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA18942.hp1 HG01981.hp2 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0084 a0002c0002t0001g0074 a0002c0002t0001g0084	2	91	0.0220	52	c.177 others(71): Show c.1778+2448_1778+2449insGACTGTGAGGTGTGACTGTGAGGCGT GACTGTGAGGCGTGACTGAGGCGTGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GGGGGGGG others(45): Show GGGGGGGGGGGGGGGGGGGGGGGGGGGGTGTGTGTGTGTGTGTGTGTGTG TGT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0208 a0002c0002t0002g0208	1	302	0.0033	52	c.232 others(71): Show c.232+32152_232+32153insACACACACACACACACACACACACAC CCCCCCCCCCCCCCCCCCCCCCCCCC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GGGGGGGG others(45): Show GGGGGGGGGGGGGGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0187 a0002c0002t0002g0187	1	302	0.0033	52	c.232 others(71): Show c.232+32152_232+32153insACACACACACACACACACACACACAC ACACACACACCCCCCCCCCCCCCCCC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GGGGGGGG others(45): Show GGGGGGGGGGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0012 a0003c0003t0003g0012	1	302	0.0033	52	c.232 others(71): Show c.232+32152_232+32153insACACACACACACACACACACACACAC ACACACACACACACCCCCCCCCCCCC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CER1_chr9_14714724_14727733	14719553	G G	GCATTCCT others(45): Show GCATTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC CTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01891.hp2 HG02129.hp1 others(7): Show HG00423.hp2 HG01891.hp2 HG02129.hp1 HG02523.hp2 NA18987.hp1 NA19006.hp1 NA19055.hp1 NA19060.hp2 NA19065.hp2 NA19076.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0038 a0002c0002t0002g0004 a0002c0002t0002g0038	10	460	0.0217	52	c.53 others(61): Show c.536_*537insAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAATG	CER1	ENSG00000147869.5	transcript	ENST00000380911.4	protein_coding		170		chr9	TogoVar
CERS3_chr15_100395395_100533950	100466837	C C	CTCTTTCT others(45): Show CTCTTTCTCTCTTTCTCTCTTCTCTCTTCTCTCTCTCTCTCTCTCTTCTC TCT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	362	0.0028	52	c.845 others(69): Show c.845+2540_845+2541insAGAGAGAAGAGAGAGAGAGAGAGAGAAG AGAGAAGAGAGAAAGAGAGAAAGA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS5_chr12_50124289_50172369	50156437	T T	TATATATA others(45): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01515.hp2 NA19089.hp1 HG00741.hp2 HG01515.hp2 NA19089.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0012 a0002c0003t0003 a0002c0003t0012	a0002c0003t0003g0027 a0002c0003t0003g0067 a0002c0003t0012g0275 a0002c0003t0003g0027 a0002c0003t0003g0067 a0002c0003t0012g0275	3	320	0.0094	52	c.197 others(71): Show c.197+10663_197+10664insTTATATATATATATATATATATATAT ATATATATATATATATATATATATAT	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS5_chr12_50124289_50172369	50156437	T T	TATATATG others(45): Show TATATATGTATATATATATATATATATATATATATATATATATATATATA TAA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0064 a0002c0003t0003g0064	1	320	0.0031	52	c.197 others(71): Show c.197+10663_197+10664insTTATATATATATATATATATATATAT ATATATATATATATATATACATATAT	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CES1_chr16_55797851_55838096	55830773	A A	AGAAGGAA others(45): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGG AAG	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0062 a0008c0007t0001g0062	1	87	0.0115	52	c.53- others(67): Show c.53-1800_53-1799insCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTC	CES1	ENSG00000198848.13	transcript	ENST00000360526.8	protein_coding	1/13			chr16	TogoVar
CES1_chr16_55797851_55838096	55830781	G G	GGAAGGAA others(45): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGTAAGAAGGAAGGAAGG AAA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18979.hp1 NA18953.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0020 a0001c0001t0001g0025	2	87	0.0230	52	c.53- others(67): Show c.53-1808_53-1807insTTTCCTTCCTTCCTTCTTACCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTC	CES1	ENSG00000198848.13	transcript	ENST00000360526.8	protein_coding	1/13			chr16	TogoVar
CFAP20_chr16_58108592_58134381	58129772	G G	GCGGACGC others(45): Show GCGGACGCCCAACACATGCTTGTCGGCCGGACGCCCAACACATGCTTGTC GGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA19058.hp1 NA19065.hp2 NA18939.hp1 NA19058.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0026 a0001c0001t0002g0176 a0001c0001t0006g0036 a0001c0001t0002g0026 a0001c0001t0002g0176 a0001c0001t0006g0036	3	400	0.0075	52	c.-65 others(61): Show c.-658_-657insGCCGACAAGCATGTGTTGGGCGTCCGGCCGACAAGC ATGTGTTGGGCGTCCG	CFAP20	ENSG00000070761.8	transcript	ENST00000262498.8	protein_coding		392		chr16	TogoVar
CFAP251_chr12_121913592_122008919	121928674	A A	ATATATAT others(45): Show ATATATATATACGTATATATATACGTATATATATATATACGTATATATAT ACG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02083.hp2 NA18950.hp2 HG02080.hp1 HG02083.hp2 NA18950.hp2	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0001 a0001c0008t0001 a0001c0004t0001 a0001c0008t0001	a0001c0004t0001g0302 a0001c0008t0001g0280 a0001c0008t0001g0311 a0001c0004t0001g0302 a0001c0008t0001g0280 a0001c0008t0001g0311	3	354	0.0085	52	c.748 others(69): Show c.748-3062_748-3061insCGTATATATATACGTATATATATATATA CGTATATATATACGTATATATATA	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP299_chr4_80330730_80968750	80929351	A A	ACACCACT others(45): Show ACACCACTATCCCTCCAGTCTCTGTAGCACCACTATCCCTCCAGTCTCTG TAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02647.hp2 HG02886.hp1 others(7): Show HG02280.hp2 HG02647.hp2 HG02886.hp1 HG02965.hp2 HG02976.hp1 HG03139.hp1 HG03195.hp2 HG03516.hp2 HG03540.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0002c0006	a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 a0002c0006t0001	a0001c0001t0001g0048 a0002c0002t0001g0020 a0002c0002t0001g0026 others(7): Show a0001c0001t0001g0048 a0002c0002t0001g0020 a0002c0002t0001g0026 a0002c0002t0001g0046 a0002c0005t0001g0058 a0002c0005t0001g0070 a0002c0005t0001g0071 a0002c0005t0001g0076 a0002c0006t0001g0034 a0002c0006t0001g0088	10	96	0.1042	52	c.477 others(71): Show c.477-15409_477-15408insAGCACCACTATCCCTCCAGTCTCTGT AGCACCACTATCCCTCCAGTCTCTGT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP410_chr21_44323944_44344390	44335931	A A	ACTCAGCC others(45): Show ACTCAGCCAGTGTGCCCAGGGTGAATGCCCAGGGCCTGAGGGGAGCGGCC CTG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18962.hp1 NA18985.hp1 others(2): Show NA18950.hp1 NA18962.hp1 NA18985.hp1 NA19005.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0020 a0003c0004t0002 a0001c0001t0001 a0001c0001t0020 a0003c0004t0002	a0001c0001t0001g0172 a0001c0001t0020g0136 a0003c0004t0002g0245 others(2): Show a0001c0001t0001g0172 a0001c0001t0020g0136 a0003c0004t0002g0245 a0003c0004t0002g0246 a0003c0004t0002g0247	5	436	0.0115	52	c.97- others(65): Show c.97-179_97-128dupCAGGGCCGCTCCCCTCAGGCCCTGGGCATTCA CCCTGGGCACACTGGCTGAG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	2/6			chr21	TogoVar
CFAP46_chr10_132803392_132947570	132887939	T T	TCTCTCCT others(45): Show TCTCTCCTCTCCCTTCTTCTCTCCTCTCCTCTCTCTTTCACCTCTCTCTC TCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03195.hp2 HG02145.hp1 HG03195.hp2	a0023 a0045 a0023 a0045	a0023c0105 a0045c0113 a0023c0105 a0045c0113	a0023c0105t0002 a0045c0113t0002 a0023c0105t0002 a0045c0113t0002	a0023c0105t0002g0017 a0045c0113t0002g0103 a0023c0105t0002g0017 a0045c0113t0002g0103	2	246	0.0081	52	c.330 others(71): Show c.3305-1981_3305-1980insGGAGAGAGAGAGGTGAAAGAGAGAGG AGAGGAGAGAAGAAGGGAGAGGAGAG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888903	C C	CACCTGCA others(45): Show CACCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACTGCCACCTTCACC CCT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0144 a0002c0003t0001g0144	1	246	0.0041	52	c.330 others(71): Show c.3305-2945_3305-2944insAGGGGTGAAGGTGGCAGTGCAGGCGG CAGGGGTGAAGGTGGCAGGTGCAGGT	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132931579	C C	CCACACAG others(45): Show CCACACAGAGCCTGGGCCTTCCCCACACAGAGGCTAGGCCTCCCCACACT TTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02486.hp2 HG03017.hp1 others(1): Show HG01169.hp1 HG02486.hp2 HG03017.hp1 HG03669.hp1	a0021 a0054 a0057 a0021 a0054 a0057	a0021c0033 a0054c0111 a0057c0110 a0021c0033 a0054c0111 a0057c0110	a0021c0033t0001 a0021c0033t0004 a0054c0111t0001 others(1): Show a0021c0033t0001 a0021c0033t0004 a0054c0111t0001 a0057c0110t0001	a0021c0033t0001g0238 a0021c0033t0004g0237 a0054c0111t0001g0239 others(1): Show a0021c0033t0001g0238 a0021c0033t0004g0237 a0054c0111t0001g0239 a0057c0110t0001g0236	4	246	0.0163	52	c.867 others(69): Show c.867-1776_867-1775insAAAAGTGTGGGGAGGCCTAGCCTCTGTG TGGGGAAGGCCCAGGCTCTGTGTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	8/57			chr10	TogoVar
CFAP47_chrX_35914734_36390317	35923944	C C	CATATATG others(45): Show CATATATGTACACACATATATATGTACATATATGTACATATATGTACATA TAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0017 a0017	a0017c0016 a0017c0016	a0017c0016t0001 a0017c0016t0001	a0017c0016t0001g0200 a0017c0016t0001g0200	1	216	0.0046	52	c.250 others(69): Show c.250-2071_250-2070insATATGTACACACATATATATGTACATAT ATGTACATATATGTACATATATAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36371920	A A	ATACACAC others(45): Show ATACACACATGTGTATATGTGTGTGTATATATACACACATGTGTATATGT GTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG02717.hp1 others(3): Show HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02970.hp1 HG03041.hp1 NA21309.hp1	a0005 a0015 a0017 a0005 a0015 a0017	a0005c0005 a0015c0063 a0017c0016 a0005c0005 a0015c0063 a0017c0016	a0005c0005t0001 a0015c0063t0001 a0017c0016t0001 a0005c0005t0001 a0015c0063t0001 a0017c0016t0001	a0005c0005t0001g0006 a0005c0005t0001g0008 a0005c0005t0001g0009 others(3): Show a0005c0005t0001g0006 a0005c0005t0001g0008 a0005c0005t0001g0009 a0005c0005t0001g0190 a0015c0063t0001g0213 a0017c0016t0001g0193	6	216	0.0278	52	c.918 others(71): Show c.9185+4794_9185+4795insACACACATGTGTATATGTGTGTGTAT ATATACACACATGTGTATATGTGTGT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP74_chr1_1916957_2008786	1923511	A A	AAGTGGAG others(45): Show AAGTGGAGTGGCCTTGTCCCCGAAGCTCGGCGGCAGGGGGTCCTGCTGGT GAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0024 a0024	a0024c0050 a0024c0050	a0024c0050t0009 a0024c0050t0009	a0024c0050t0009g0271 a0024c0050t0009g0271	1	278	0.0036	52	c.439 others(67): Show c.4390-13_4390-12insCTCACCAGCAGGACCCCCTGCCGCCGAGCT TCGGGGACAAGGCCACTCCACT	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	35/38			chr1	TogoVar
CFAP97D2_chr13_114174257_114228085	114197735	T T	TCCAGTGA others(45): Show TCCAGTGATACAACTTCAGCTCACTGCAGCCTCTGCCTCCCAGGTGCAAG TGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG02622.hp2 others(5): Show HG01109.hp1 HG01891.hp1 HG02622.hp2 HG02809.hp2 HG03195.hp2 HG03209.hp1 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0068 others(5): Show a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0129	8	400	0.0200	52	c.171 others(69): Show c.171+1260_171+1311dupCCAGTGATACAACTTCAGCTCACTGCAG CCTCTGCCTCCCAGGTGCAAGTGA	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFD_chr19_854664_868641	866923	G G	GCCAGCGC others(45): Show GCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCCACACCCCC TCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	287	0.0035	52	c.36 others(63): Show c.3685_*3686insCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCG CGGGCCCACACCCCCTCA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3283		chr19	TogoVar
CGREF1_chr2_27095594_27124128	27116871	T T	TTCTCTCT others(45): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	352	0.0028	52	c.-12 others(69): Show c.-12+1923_-12+1974dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTATGTAT others(45): Show GTATGTATATATATATATATATATATATATATATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	238	0.0042	52	c.-16 others(71): Show c.-164-9504_-164-9503insGTATATATATATATATATATATATAT ATATATATATATATATATATATATAT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar

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