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
CDK14_chr7_90591321_91215590	91091516	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0153 a0001c0001t0006g0153	1	166	0.0060	38	c.115 others(59): Show c.1154+12037_1154+12038insTATATATATATATATATATATATA TATATATATATAAA	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK15_chr2_201801537_201900550	201857232	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18993.hp1 NA19009.hp1 HG02280.hp1 NA18993.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0201 a0001c0001t0002g0236 a0001c0001t0002g0146 a0001c0001t0002g0201 a0001c0001t0002g0236	3	148	0.0203	38	c.100 others(57): Show c.1009+2311_1009+2312insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	CDK15	ENSG00000138395.17	transcript	ENST00000652192.3	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
CDK18_chr1_205499669_205537790	205519442	C C	CCCTACAT others(31): Show CCCTACATCTGACCTCCATCCTTCCATCAGGAAGTCCAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA20300.hp2 NA21309.hp1 HG03139.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0277 a0001c0001t0003g0308 a0001c0001t0003g0128 a0001c0001t0003g0277 a0001c0001t0003g0308	3	385	0.0078	38	c.-21 others(55): Show c.-21-3672_-21-3635dupGTCCATCCTACATCTGACCTCCATCCTT CCATCAGGAA	CDK18	ENSG00000117266.16	transcript	ENST00000429964.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDK18_chr1_205499669_205537790	205532937	G G	GTGTATGT others(31): Show GTGTATGTGTGTGTGTGTGTGTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0038 a0001c0001t0007g0038	1	32	0.0313	38	c.15 others(49): Show c.1559_*1560insTGTATGTGTGTGTGTGTGTGTATATATATATATA TATA	CDK18	ENSG00000117266.16	transcript	ENST00000429964.7	protein_coding		148		chr1	TogoVar
CDK18_chr1_205499669_205537790	205532937	G G	GTGTATGT others(31): Show GTGTATGTGTGTGTGTGTGTGTGTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0141 a0001c0001t0007g0141	1	32	0.0313	38	c.15 others(49): Show c.1559_*1560insTGTATGTGTGTGTGTGTGTGTGTATATATATATA TATA	CDK18	ENSG00000117266.16	transcript	ENST00000429964.7	protein_coding		148		chr1	TogoVar
CDK18_chr1_205499669_205537790	205532937	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0125 a0002c0002t0010g0125	1	32	0.0313	38	c.15 others(49): Show c.1559_*1560insTGTGTGTGTGTGTATATATATATATATATATATA TATA	CDK18	ENSG00000117266.16	transcript	ENST00000429964.7	protein_coding		148		chr1	TogoVar
CDK19_chr6_110604978_110820469	110608064	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0243	1	84	0.0119	38	c.64 others(49): Show c.6470_*6471insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding		1913		chr6	TogoVar
CDK19_chr6_110604978_110820469	110759428	A A	AAAAAAAA others(31): Show AAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0276 a0001c0001t0016g0276	1	63	0.0159	38	c.129 others(57): Show c.129-13228_129-13227insATATATATATATATATATATATATAT ATATTTTTTTTT	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	1/12			chr6	TogoVar
CDK6_chr7_92599921_92841573	92778946	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18939.hp1 NA18963.hp2 HG00544.hp1 NA18939.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0039 a0001c0001t0002 a0001c0001t0039	a0001c0001t0002g0049 a0001c0001t0002g0116 a0001c0001t0039g0050 a0001c0001t0002g0049 a0001c0001t0002g0116 a0001c0001t0039g0050	3	63	0.0476	38	c.234 others(55): Show c.234-4116_234-4115insTTATATATATATATATATATATATATAT ATATATATAT	CDK6	ENSG00000105810.10	transcript	ENST00000424848.3	protein_coding	2/7			chr7	TogoVar
CDKAL1_chr6_20529457_21237404	20600771	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	1	75	0.0133	38	c.287 others(57): Show c.287-48505_287-48504insTATATATATATACATATATATATATA TATATATATATA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003343	A A	AATATATA others(31): Show AATATATATATATATACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	145	0.0069	38	c.105 others(57): Show c.1055+2986_1055+2987insCATATATATATATATATATATATATA TATATATATATA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003343	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0178 a0001c0001t0016g0178	1	145	0.0069	38	c.105 others(57): Show c.1055+3000_1055+3001insTATATATATATATATATATATATATA TATATATATATA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003371	T T	TATATATA others(31): Show TATATATACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	59	0.0169	38	c.105 others(57): Show c.1055+3000_1055+3001insTATATACACACACACACACACACACA CACACACACACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003371	T T	TATATATA others(31): Show TATATATATATATATACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0114 a0001c0002t0013g0114	1	59	0.0169	38	c.105 others(57): Show c.1055+3000_1055+3001insTATATATATATATACACACACACACA CACACACACACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003371	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0083 a0001c0001t0004g0083	1	59	0.0169	38	c.105 others(57): Show c.1055+3000_1055+3001insTATATATATATATATATATATATATA TATATATACACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN2A_chr9_21962752_21979857	21971575	A A	ATTTTTTT others(31): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02698.hp1 HG03225.hp1 others(1): Show HG01358.hp1 HG02698.hp1 HG03225.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0060 a0001c0001t0002g0038 a0001c0001t0002g0049 a0001c0001t0001g0060 a0001c0001t0002g0038 a0001c0001t0002g0049	4	70	0.0571	38	c.151 others(53): Show c.151-368_151-367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000304494.10	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21971575	A A	ATTTTTTT others(31): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02698.hp1 HG03225.hp1 others(1): Show HG01358.hp1 HG02698.hp1 HG03225.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0189 a0001c0001t0002g0289 a0001c0001t0002g0310 others(1): Show a0001c0001t0001g0189 a0001c0001t0002g0289 a0001c0001t0002g0310 a0001c0001t0002g0320	4	65	0.0615	38	c.194 others(53): Show c.194-368_194-367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21990611	T T	TGAGAGAG others(31): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18968.hp1 NA18951.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0002g0338 a0001c0001t0001g0013 a0001c0001t0002g0338	2	45	0.0444	38	c.193 others(55): Show c.193+3490_193+3527dupTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTC	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDYL_chr6_4771404_4960544	4900779	G G	GTGTGTGT others(31): Show GTGTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	60	0.0167	38	c.691 others(55): Show c.691+8401_691+8402insGTGTGTATATATATATATATATATATAT ATATATATAT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4900779	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0169 a0001c0002t0002g0169	1	60	0.0167	38	c.691 others(55): Show c.691+8401_691+8402insGTGTGTGTGTGTGTATATATATATATAT ATATATATAT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEACAM1_chr19_42502306_42533481	42513915	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATAAATAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0172 a0002c0003t0002g0172	1	254	0.0039	38	c.124 others(57): Show c.1247-1437_1247-1436insTTATTTATATATATATATATATATAT ATATATATATAT	CEACAM1	ENSG00000079385.23	transcript	ENST00000161559.11	protein_coding	5/8			chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44518108	A A	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0027 a0003c0012t0001g0027	1	436	0.0023	38	c.103 others(55): Show c.1031-885_1031-884insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	5/11			chr19	TogoVar
CEBPG_chr19_33368709_33387686	33387121	T T	TAAGCAAG others(31): Show TAAGCAAGGTATAAAACAGATTAAAGGTGGGAGCCTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	434	0.0023	38	c.74 others(49): Show c.7429_*7430insAAGCAAGGTATAAAACAGATTAAAGGTGGGAGCC TGCA	CEBPG	ENSG00000153879.9	transcript	ENST00000284000.9	protein_coding		4436		chr19	TogoVar
CECR2_chr22_17364460_17563151	17524387	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0016 a0016	a0016c0011 a0016c0011	a0016c0011t0006 a0016c0011t0006	a0016c0011t0006g0143 a0016c0011t0006g0143	1	118	0.0085	38	c.110 others(55): Show c.1108+139_1108+140insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CELF2_chr10_11012872_11341675	11197070	G G	GAAAAGAA others(31): Show GAAAAGAAAGAAAGAAGGAAAGAAAGGAAAGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG04228.hp1 HG01109.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0012 a0001c0003t0039 a0001c0001t0012 a0001c0003t0039	a0001c0001t0012g0178 a0001c0003t0039g0035 a0001c0001t0012g0178 a0001c0003t0039g0035	2	156	0.0128	38	c.272 others(57): Show c.272-20355_272-20354insAAAAGAAAGAAAGAAGGAAAGAAAGG AAAGAAAGGAAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12			chr10	TogoVar
CELF5_chr19_3219661_3302076	3299550	C C	CTTCTTCT others(31): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	258	0.0039	38	c.28 others(49): Show c.2833_*2834insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2475		chr19	TogoVar
CELF5_chr19_3219661_3302076	3299553	C C	CTTCTTCT others(31): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01496.hp2 HG01975.hp1 others(3): Show HG00597.hp1 HG01496.hp2 HG01975.hp1 HG02071.hp2 HG04228.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0002t0004	a0001c0001t0001g0146 a0001c0001t0004g0212 a0001c0001t0005g0087 others(3): Show a0001c0001t0001g0146 a0001c0001t0004g0212 a0001c0001t0005g0087 a0001c0001t0005g0208 a0001c0002t0004g0031 a0001c0002t0004g0040	6	232	0.0259	38	c.28 others(49): Show c.2836_*2837insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2478		chr19	TogoVar
CEMIP2_chr9_71678366_71773513	71728241	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATACACG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0007 a0007c0014t0007	a0007c0014t0007g0092 a0007c0014t0007g0092	1	278	0.0036	38	c.204 others(57): Show c.2049+1603_2049+1604insCGTGTATATATATATATATATATATA TATATATATATA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728271	A A	ATATATAT others(31): Show ATATATATACGTATATACACGTATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0002 a0001c0001t0023g0002	1	276	0.0036	38	c.204 others(57): Show c.2049+1573_2049+1574insCATATATATATATATATACGTGTATA TACGTATATATA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728275	A A	ATACGTAT others(31): Show ATACGTATATATATATACGTATATATATATATATACACG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0007 a0007	a0007c0025 a0007c0025	a0007c0025t0007 a0007c0025t0007	a0007c0025t0007g0078 a0007c0025t0007g0078	1	304	0.0033	38	c.204 others(57): Show c.2049+1569_2049+1570insCGTGTATATATATATATATACGTATA TATATATACGTA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CENPE_chr4_103100811_103203343	103113151	A A	AGTGTATA others(31): Show AGTGTATATATAAGTGTATATATATACTTATAAGTATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG04228.hp1 NA19240.hp1 HG03041.hp1 HG04228.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0013 a0002c0002 a0001c0013 a0002c0002	a0001c0013t0001 a0002c0002t0001 a0001c0013t0001 a0002c0002t0001	a0001c0013t0001g0151 a0001c0013t0001g0152 a0002c0002t0001g0033 a0001c0013t0001g0151 a0001c0013t0001g0152 a0002c0002t0001g0033	3	265	0.0113	38	c.754 others(57): Show c.7540+1303_7540+1304insATATACTTATAAGTATATATATACAC TTATATATACAC	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	46/48			chr4	TogoVar
CENPJ_chr13_24877279_24927861	24881984	A A	ATAGATAC others(31): Show ATAGATACATCTATATAGATACATCTATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0008 a0001c0004t0001g0008	1	426	0.0023	38	c.11 others(49): Show c.1192_*1193insGATGTATCTATATAGATGTATCTATATAGATGTA TCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		294		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882090	A A	ATAGATAC others(31): Show ATAGATACATCTATATAGATACATCTATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 NA18972.hp1 HG01433.hp1 NA18972.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0007 a0001c0002t0001 a0001c0002t0007	a0001c0002t0001g0002 a0001c0002t0007g0011 a0001c0002t0001g0002 a0001c0002t0007g0011	2	376	0.0053	38	c.10 others(49): Show c.1086_*1087insGATGTATCTATATAGATGTATCTATATAGATGTA TCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		188		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882151	G G	GATACATC others(31): Show GATACATCTATATAGATACATCTATATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0006 a0005c0008t0006	a0005c0008t0006g0080 a0005c0008t0006g0080	1	72	0.0139	38	c.10 others(49): Show c.1025_*1026insATAGATGTATCTATATAGATGTATCTATATAGAT GTAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		127		chr13	TogoVar
CENPN_chr16_81002214_81036485	81026089	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTATATATATATGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0045 a0002c0001t0045	a0002c0001t0045g0173 a0002c0001t0045g0173	1	395	0.0025	38	c.698 others(53): Show c.698-436_698-435insGTGTGTGTGTATATATATATGTGTGTGTAT ATATATAT	CENPN	ENSG00000166451.14	transcript	ENST00000305850.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTGTAT others(31): Show GTGTGTATACATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0131 a0002c0002t0012g0131	1	132	0.0076	38	c.467 others(55): Show c.467+6719_467+6720insGTGTATACATATATATATATATATATAT ATATATATAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTGTGT others(31): Show GTGTGTGTATACATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01943.hp1 HG02647.hp1 others(2): Show HG00323.hp1 HG01943.hp1 HG02647.hp1 HG02970.hp1 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0002c0002t0012 a0001c0001t0001 a0001c0001t0006 a0002c0002t0012	a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0001g0217 others(2): Show a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0001g0217 a0001c0001t0006g0209 a0002c0002t0012g0132	5	136	0.0368	38	c.467 others(55): Show c.467+6719_467+6720insGTGTGTATACATATATATATATATATAT ATATATATAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTATACATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0170 a0001c0001t0003g0170	1	132	0.0076	38	c.467 others(55): Show c.467+6719_467+6720insGTGTGTGTGTATACATATATATATATAT ATATATATAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTATACATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0158	1	132	0.0076	38	c.467 others(55): Show c.467+6719_467+6720insGTGTGTGTGTGTATACATATATATATAT ATATATATAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92551940	T T	TGATATAT others(31): Show TGATATATATATATGATATATATATGATATATATATATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01346.hp2 HG02015.hp2 others(8): Show HG00280.hp1 HG01346.hp2 HG02015.hp2 HG02165.hp1 HG02486.hp1 HG03710.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp1 NA18980.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0046 a0001c0001t0047 a0001c0001t0005 a0001c0001t0046 a0001c0001t0047	a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 others(8): Show a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0046g0259 a0001c0001t0047g0030	11	250	0.0440	38	c.565 others(57): Show c.565-59374_565-59373insGATATATATATATGATATATATATGA TATATATATATG	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7			chr9	TogoVar
CEP112_chr17_65630537_66197133	65958575	G G	GCAGCCAG others(31): Show GCAGCCAGCCAGGTGGGCACACACTCAGGGCAGTGCTGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00642.hp2 others(50): Show HG00280.hp1 HG00438.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01255.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01517.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02683.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp1 HG03492.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp2 NA18522.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA19002.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0002 a0001c0003 a0002c0001 others(3): Show a0001c0002 a0001c0003 a0002c0001 a0003c0006 a0004c0005 a0005c0010	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(7): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0007 a0002c0001t0003 a0003c0006t0001 a0003c0006t0002 a0004c0005t0001 a0005c0010t0001	a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0020 others(50): Show a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0052 a0001c0002t0001g0055 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0104 a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0009 a0001c0003t0001g0032 a0001c0003t0001g0065 a0001c0003t0001g0081 a0001c0003t0002g0109 a0001c0003t0002g0112 a0001c0003t0006g0003 a0001c0003t0007g0004 a0002c0001t0003g0019 a0003c0006t0001g0022 a0003c0006t0002g0110 a0004c0005t0001g0050 a0004c0005t0001g0058 a0005c0010t0001g0010	53	110	0.4818	38	c.187 others(57): Show c.1872+2887_1872+2888insTCAGCACTGCCCTGAGTGTGTGCCCA CCTGGCTGGCTG	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	18/26			chr17	TogoVar
CEP120_chr5_123339892_123428403	123408961	C C	CGTGTGTA others(31): Show CGTGTGTAAGATTGGCGGATGGTGAGGATCACTTGTAAG	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	374	0.0027	38	c.463 others(55): Show c.463+3437_463+3438insCTTACAAGTGATCCTCACCATCCGCCAA TCTTACACAC	CEP120	ENSG00000168944.17	transcript	ENST00000306467.10	protein_coding	4/19			chr5	TogoVar
CEP126_chr11_101910010_102006062	101938159	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02280.hp1 HG02717.hp2 HG01255.hp1 HG02280.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0151 a0001c0001t0002g0182 a0001c0001t0004g0154 a0001c0001t0002g0151 a0001c0001t0002g0182 a0001c0001t0004g0154	3	151	0.0199	38	c.249 others(55): Show c.249-6089_249-6088insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP128_chr14_80491479_80946738	80561896	C C	CTATATAT others(31): Show CTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0055 a0005c0005t0001g0055	1	66	0.0152	38	c.285 others(57): Show c.2857-2595_2857-2594insTATATATATATATATATATATATATA TATATATATATA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	20/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80656319	A A	ATTTTATA others(31): Show ATTTTATATATATATATTTATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0013 a0004c0004t0013	a0004c0004t0013g0086 a0004c0004t0013g0086	1	162	0.0062	38	c.280 others(59): Show c.2807-75897_2807-75896insATATATATATATATATATATAAAT ATATATATATAAAA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80678045	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATGTATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG03540.hp2 HG00733.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0002 a0001c0008 a0002c0002	a0001c0008t0005 a0002c0002t0004 a0001c0008t0005 a0002c0002t0004	a0001c0008t0005g0018 a0002c0002t0004g0083 a0001c0008t0005g0018 a0002c0002t0004g0083	2	130	0.0154	38	c.280 others(59): Show c.2806+65029_2806+65030insATATATACATATATATATATATAT ATATATATATATAT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80678049	A A	AATATATA others(31): Show AATATATATATATATATATATATATATGTATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0005 a0001c0022t0005	a0001c0022t0005g0015 a0001c0022t0005g0015	1	58	0.0172	38	c.280 others(59): Show c.2806+65025_2806+65026insATATATATATACATATATATATAT ATATATATATATAT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80729056	G G	GGTGTGTG others(31): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	113	0.0088	38	c.280 others(59): Show c.2806+14018_2806+14019insACACACACACACACACACACACAC ACACACACACACAC	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP164_chr11_117322854_117418266	117337510	T T	TAAAAAAA others(31): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02683.hp1 HG01884.hp1 HG02683.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0008 a0004c0009t0008	a0004c0009t0008g0024 a0004c0009t0008g0025 a0004c0009t0008g0024 a0004c0009t0008g0025	2	303	0.0066	38	c.-21 others(55): Show c.-21-1042_-21-1041insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	CEP164	ENSG00000110274.16	transcript	ENST00000278935.8	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP170_chr1_243119428_243260281	243226058	G G	GATATATA others(31): Show GATATATATATCTATATCTAGATATAAATATATCTAGAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG02451.hp2 others(7): Show HG01884.hp2 HG02258.hp1 HG02451.hp2 HG02572.hp2 HG02647.hp2 HG02723.hp1 HG02896.hp1 HG03195.hp1 NA18906.hp1 NA20300.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0175 a0003c0003t0003g0176 a0003c0003t0003g0177 others(7): Show a0003c0003t0003g0175 a0003c0003t0003g0176 a0003c0003t0003g0177 a0003c0003t0003g0178 a0003c0003t0003g0179 a0003c0003t0003g0180 a0003c0003t0003g0181 a0003c0003t0003g0182 a0003c0003t0003g0183 a0003c0003t0003g0184	10	140	0.0714	38	c.-41 others(53): Show c.-41-738_-41-737insATCTAGATATATTTATATCTAGATATAGAT ATATATAT	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	1/19			chr1	TogoVar

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