Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CDKAL1_chr6_20529457_21237404	20797760	C C	CTTTATTT others(23): Show CTTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp1 HG03516.hp1 HG02922.hp2 HG03139.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0011 a0001c0001 a0001c0008 a0001c0011	a0001c0001t0021 a0001c0008t0004 a0001c0011t0004 a0001c0001t0021 a0001c0008t0004 a0001c0011t0004	a0001c0001t0021g0177 a0001c0008t0004g0105 a0001c0011t0004g0130 a0001c0001t0021g0177 a0001c0008t0004g0105 a0001c0011t0004g0130	3	40	0.0750	30	c.638 others(49): Show c.638+16534_638+16563dupATTTTATTTTATTTTATTTTATTTTA TTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003343	A A	AATATATA others(23): Show AATATATATATATATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0017 a0001c0004t0007g0017	1	145	0.0069	30	c.105 others(49): Show c.1055+2986_1055+2987insCATATATATATATATATATATATATA TATA	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(23): Show TATATATACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 NA19043.hp2 HG01256.hp1 HG01258.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0082 a0001c0001t0009g0087 a0001c0001t0009g0089 a0001c0001t0003g0082 a0001c0001t0009g0087 a0001c0001t0009g0089	3	61	0.0492	30	c.105 others(49): Show c.1055+3000_1055+3001insTATATACACACACACACACACACACA CACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKL5_chrX_18420608_18645196	18509197	G G	GCACGCGC others(23): Show GCACGCGCGCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0169 a0001c0001t0004g0169	1	62	0.0161	30	c.65- others(45): Show c.65-1620_65-1619insGCGCGCGCGCACACACACACACACACACAC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKN2AIP_chr4_183439636_183454064	183442071	T T	TACACACA others(23): Show TACACACACACATATGTATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG02165.hp1 HG02165.hp2 others(18): Show HG00609.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG03688.hp2 HG04204.hp2 HG06807.hp2 NA18945.hp1 NA18947.hp1 NA18953.hp2 NA18959.hp2 NA18960.hp2 NA18966.hp2 NA18969.hp1 NA18977.hp2 NA18987.hp2 NA19004.hp2 NA19056.hp1 NA19067.hp1 NA19068.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0003t0002g0001 a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0003t0002g0001	21	309	0.0680	30	c.-27 others(41): Show c.-2727_-2726insACACACACACATATGTATATATATATATAC	CDKN2AIP	ENSG00000168564.6	transcript	ENST00000504169.2	protein_coding		2564		chr4	TogoVar
CDKN2A_chr9_21962752_21979857	21971575	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02572.hp1 HG04184.hp2 others(3): Show HG02165.hp1 HG02572.hp1 HG04184.hp2 NA18957.hp2 NA18964.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0029 a0001c0001t0001g0065 a0001c0001t0001g0066 others(2): Show a0001c0001t0001g0029 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0002g0092	6	72	0.0833	30	c.151 others(45): Show c.151-368_151-367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000304494.10	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21971575	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02572.hp1 HG04184.hp2 others(3): Show HG02165.hp1 HG02572.hp1 HG04184.hp2 NA18957.hp2 NA18964.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0124 a0001c0001t0001g0187 a0001c0001t0001g0241 others(3): Show a0001c0001t0001g0124 a0001c0001t0001g0187 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0358 a0001c0001t0002g0317	6	67	0.0896	30	c.194 others(45): Show c.194-368_194-367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21981108	A A	ATATATAT others(23): Show ATATATATATACGTGTATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0373 a0001c0001t0001g0373	1	143	0.0070	30	c.194 others(47): Show c.194-9901_194-9900insCACGTATATATATATACACGTATATATA TA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21990611	T T	TGAGAGAG others(23): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01255.hp2 HG01884.hp1 others(18): Show HG00408.hp2 HG01255.hp2 HG01884.hp1 HG01943.hp1 HG02055.hp1 HG02071.hp2 HG02572.hp1 HG02818.hp1 HG02895.hp2 HG03139.hp2 HG04184.hp1 NA18943.hp2 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18984.hp2 NA18988.hp2 NA18999.hp1 NA18999.hp2 NA19088.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0097 others(18): Show a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0097 a0001c0001t0001g0113 a0001c0001t0001g0126 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0202 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0269 a0001c0001t0001g0333 a0001c0001t0001g0382 a0001c0001t0002g0317 a0001c0001t0005g0315 a0001c0001t0005g0316	21	64	0.3281	30	c.193 others(47): Show c.193+3498_193+3527dupTCTCTCTCTCTCTCTCTCTCTCTCTCTC TC	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2D_chr19_10561460_10573979	10570547	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 NA19082.hp1 HG00673.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	10	0.2000	30	c.-18 others(41): Show c.-1895_-1894insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CDKN2D	ENSG00000129355.7	transcript	ENST00000393599.3	protein_coding		1569		chr19	TogoVar
CDKN3_chr14_54392007_54425218	54414999	C C	CTACAATA others(23): Show CTACAATACAATACAATACAATACAATACAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	414	0.0024	30	c.417 others(45): Show c.417-876_417-875insATACAATACAATACAATACAATACAATACA	CDKN3	ENSG00000100526.21	transcript	ENST00000335183.11	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
CDYL2_chr16_80592907_80809598	80672535	A A	AAAAGGAA others(23): Show AAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0013 a0001c0009t0007g0013	1	73	0.0137	30	c.616 others(49): Show c.616+11973_616+12002dupCCTTTCCTTTCCTTTCCTTTCCTTTC CTTT	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	2/6			chr16	TogoVar
CDYL_chr6_4771404_4960544	4895245	G G	GTGTATAT others(23): Show GTGTATATATGTGTATGTATACATATGTGTA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0239 a0001c0001t0005g0239	1	91	0.0110	30	c.691 others(47): Show c.691+2878_691+2879insTATGTATACATATGTGTATGTATATATG TG	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4895248	T T	TATGTATA others(23): Show TATGTATATATGCGCATATATACATACATGC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	247	0.0040	30	c.691 others(47): Show c.691+2871_691+2872insGTATATATGCGCATATATACATACATGC AT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4900779	G G	GTGTATGT others(23): Show GTGTATGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0226 a0001c0003t0001g0226	1	60	0.0167	30	c.691 others(47): Show c.691+8401_691+8402insGTATGTATATATATATATATATATATAT AT	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(23): Show GTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	60	0.0167	30	c.691 others(47): Show c.691+8401_691+8402insGTGTGTATATATATATATATATATATAT AT	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(23): Show GTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0091 a0001c0007t0003g0091	1	60	0.0167	30	c.691 others(47): Show c.691+8401_691+8402insGTGTGTGTATATATATATATATATATAT AT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEACAM19_chr19_44666482_44689355	44667953	T T	TATAATAT others(23): Show TATAATATATAAAATATATATAAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02622.hp1 HG02630.hp2 HG02258.hp2 HG02622.hp1 HG02630.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0020 a0001c0004t0001g0020	3	332	0.0090	30	c.-39 others(41): Show c.-3979_-3978insATAATATATAAAATATATATAAATTATATA	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding		3528		chr19	TogoVar
CEACAM1_chr19_42502306_42533481	42513893	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0130 a0002c0003t0004g0130	1	209	0.0048	30	c.124 others(49): Show c.1247-1415_1247-1414insATATATATATATATATATATATATAT ATAT	CEACAM1	ENSG00000079385.23	transcript	ENST00000161559.11	protein_coding	5/8			chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44528158	T T	TTTTCTTT others(23): Show TTTTCTTTCTTTCTTTCCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02717.hp2 HG03453.hp1 others(1): Show HG02451.hp1 HG02717.hp2 HG03453.hp1 NA18906.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0056 a0006c0009t0001g0316 a0006c0009t0001g0317 a0006c0009t0001g0056 a0006c0009t0001g0316 a0006c0009t0001g0317	4	284	0.0141	30	c.52+ others(45): Show c.52+1299_52+1300insGGAAAGAAAGAAAGGAAAGAAAGAAAGAAA	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	1/11			chr19	TogoVar
CECR2_chr22_17364460_17563151	17376401	T T	TTGGTGTA others(23): Show TTGGTGTATTAGGAAAGCCTTGGTGTATTAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp2 HG00735.hp1 others(30): Show HG00099.hp1 HG00597.hp2 HG00735.hp1 HG00741.hp1 HG01346.hp2 HG01884.hp2 HG02071.hp1 HG02109.hp1 HG02257.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02970.hp1 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03927.hp1 NA18950.hp1 NA18970.hp1 NA18994.hp1 NA19043.hp1 NA19060.hp1 NA19062.hp1 NA19083.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0011	a0001c0001 a0001c0009 a0002c0002 others(2): Show a0001c0001 a0001c0009 a0002c0002 a0004c0004 a0011c0024	a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 others(22): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0024 a0001c0001t0031 a0001c0001t0033 a0001c0001t0036 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0009t0028 a0002c0002t0005 a0002c0002t0007 a0002c0002t0013 a0002c0002t0042 a0002c0002t0043 a0004c0004t0005 a0004c0004t0016 a0004c0004t0022 a0004c0004t0029 a0011c0024t0056	a0001c0001t0005g0311 a0001c0001t0007g0304 a0001c0001t0007g0308 others(30): Show a0001c0001t0005g0311 a0001c0001t0007g0304 a0001c0001t0007g0308 a0001c0001t0007g0316 a0001c0001t0010g0314 a0001c0001t0011g0300 a0001c0001t0011g0307 a0001c0001t0011g0310 a0001c0001t0013g0309 a0001c0001t0013g0317 a0001c0001t0016g0312 a0001c0001t0017g0301 a0001c0001t0017g0321 a0001c0001t0024g0196 a0001c0001t0031g0324 a0001c0001t0033g0294 a0001c0001t0036g0283 a0001c0001t0038g0322 a0001c0001t0040g0009 a0001c0001t0041g0315 a0001c0009t0028g0195 a0002c0002t0005g0302 a0002c0002t0005g0303 a0002c0002t0005g0320 a0002c0002t0007g0306 a0002c0002t0013g0323 a0002c0002t0042g0305 a0002c0002t0043g0039 a0004c0004t0005g0268 a0004c0004t0016g0313 a0004c0004t0022g0267 a0004c0004t0029g0282 a0011c0024t0056g0194	33	322	0.1025	30	c.126 others(47): Show c.126+6492_126+6493insTGGTGTATTAGGAAAGCCTTGGTGTATT AG	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18			chr22	TogoVar
CELF1_chr11_47460937_47558132	47489935	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	68	0.0147	30	c.72- others(43): Show c.72-912_72-911insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	3/14			chr11	TogoVar
CELF2_chr10_11012872_11341675	11107990	T T	TCCCCACT others(23): Show TCCCCACTCCCCACTCCCTCCCTCTTCCCCC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0064 a0001c0003t0005g0064	1	127	0.0079	30	c.75- others(47): Show c.75-57472_75-57471insTCCCCCCCCCACTCCCCACTCCCTCCCT CT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF5_chr19_3219661_3302076	3299515	C C	CTCTTCTT others(23): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	60	0.0167	30	c.27 others(41): Show c.2798_*2799insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2440		chr19	TogoVar
CELSR1_chr22_46356174_46542620	46365877	T T	TGGAAAGG others(23): Show TGGAAAGGTTGGGTGGGGGAAGGTGGTGGGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0079 a0001c0027t0001g0079	1	102	0.0098	30	c.830 others(47): Show c.8301-218_8301-189dupCCCCACCACCTTCCCCCACCCAACCTTT CC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	30/34			chr22	TogoVar
CELSR1_chr22_46356174_46542620	46426129	T T	TGGGGAGG others(23): Show TGGGGAGGGCGCAGCCGGGGAGGGCGCAGCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03579.hp2 NA20129.hp2 HG02818.hp2 HG03579.hp2 NA20129.hp2	a0002 a0025 a0034 a0002 a0025 a0034	a0002c0015 a0025c0020 a0034c0066 a0002c0015 a0025c0020 a0034c0066	a0002c0015t0001 a0025c0020t0002 a0034c0066t0009 a0002c0015t0001 a0025c0020t0002 a0034c0066t0009	a0002c0015t0001g0022 a0025c0020t0002g0020 a0034c0066t0009g0104 a0002c0015t0001g0022 a0025c0020t0002g0020 a0034c0066t0009g0104	3	79	0.0380	30	c.461 others(49): Show c.4611+7263_4611+7264insGGCTGCGCCCTCCCCGGCTGCGCCCT CCCC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	5/34			chr22	TogoVar
CELSR1_chr22_46356174_46542620	46487871	G G	GGGGAGGG others(23): Show GGGGAGGGGTGTCCAGCTGATGGGGGTATAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0034 a0001c0001t0012g0034	1	102	0.0098	30	c.354 others(51): Show c.3545-23556_3545-23527dupATATACCCCCATCAGCTGGACACC CCTCCC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34			chr22	TogoVar
CEMIP2_chr9_71678366_71773513	71728263	A A	ATATATAT others(23): Show ATATATATATATACGTATATATATATATACG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	302	0.0033	30	c.204 others(49): Show c.2049+1581_2049+1582insCGTATATATATATATACGTATATATA TATA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728263	A A	ATATATAT others(23): Show ATATATATATATACGTGTATATATATATACG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0032 a0001c0001t0039g0032	1	302	0.0033	30	c.204 others(49): Show c.2049+1581_2049+1582insCGTATATATATATACACGTATATATA TATA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728265	A A	ATATATAT others(23): Show ATATATATATACGTATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0012 a0012	a0012c0032 a0012c0032	a0012c0032t0006 a0012c0032t0006	a0012c0032t0006g0146 a0012c0032t0006g0146	1	301	0.0033	30	c.204 others(49): Show c.2049+1579_2049+1580insCACGTATATATATATATACGTATATA TATA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728269	A A	ATATATAT others(23): Show ATATATATACACGTATATATATATATACACG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02148.hp2 NA18977.hp2 others(5): Show HG01981.hp1 HG02148.hp2 NA18977.hp2 NA18989.hp2 NA18992.hp1 NA19001.hp1 NA19057.hp2 NA19068.hp2	a0002 a0007 a0011 a0002 a0007 a0011	a0002c0002 a0007c0010 a0011c0020 a0002c0002 a0007c0010 a0011c0020	a0002c0002t0001 a0002c0002t0010 a0002c0002t0017 others(3): Show a0002c0002t0001 a0002c0002t0010 a0002c0002t0017 a0002c0002t0021 a0007c0010t0004 a0011c0020t0012	a0002c0002t0001g0063 a0002c0002t0001g0074 a0002c0002t0010g0072 others(5): Show a0002c0002t0001g0063 a0002c0002t0001g0074 a0002c0002t0010g0072 a0002c0002t0017g0041 a0002c0002t0021g0062 a0007c0010t0004g0034 a0007c0010t0004g0035 a0011c0020t0012g0049	8	285	0.0281	30	c.204 others(49): Show c.2049+1575_2049+1576insCGTGTATATATATATATACGTGTATA TATA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CENPE_chr4_103100811_103203343	103132960	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02056.hp1 HG02630.hp2 others(5): Show HG01891.hp2 HG02056.hp1 HG02630.hp2 HG02922.hp1 HG04228.hp1 NA18940.hp1 NA18986.hp1 NA18999.hp1	a0002 a0003 a0008 a0002 a0003 a0008	a0002c0002 a0003c0003 a0008c0009 a0002c0002 a0003c0003 a0008c0009	a0002c0002t0001 a0003c0003t0001 a0008c0009t0001 a0002c0002t0001 a0003c0003t0001 a0008c0009t0001	a0002c0002t0001g0006 a0002c0002t0001g0023 a0002c0002t0001g0030 others(4): Show a0002c0002t0001g0006 a0002c0002t0001g0023 a0002c0002t0001g0030 a0002c0002t0001g0033 a0003c0003t0001g0128 a0008c0009t0001g0144 a0008c0009t0001g0145	8	142	0.0563	30	c.672 others(45): Show c.6721-65_6721-64insTATATATATATATATATATATATATATATA	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	41/48			chr4	TogoVar
CENPI_chrX_101093204_101171126	101162473	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0015 a0001c0002t0005g0015	1	147	0.0068	30	c.213 others(47): Show c.2137-341_2137-340insTATATATATATATATATATATATATATA TA	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	21/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CENPJ_chr13_24877279_24927861	24882183	T T	TATAGATA others(23): Show TATAGATAGATATATAGATACATCTATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0277 a0001c0001t0006g0277	1	348	0.0029	30	c.99 others(39): Show c.993_*994insCTATATAGATGTATCTATATATCTATCTAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		95		chr13	TogoVar
CENPO_chr2_24788425_24827376	24817466	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0060 a0002c0002t0008g0060	1	55	0.0182	30	c.767 others(45): Show c.767-194_767-193insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CENPO	ENSG00000138092.11	transcript	ENST00000380834.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
CENPP_chr9_92320953_92625529	92352501	G G	GTATACAT others(23): Show GTATACATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0002 a0001c0001t0015g0002	1	256	0.0039	30	c.467 others(47): Show c.467+6715_467+6716insATACATATATATATATATATATATATAT AT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTATATAC others(23): Show GTATATACATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0040 a0001c0001t0015g0040	1	132	0.0076	30	c.467 others(47): Show c.467+6722_467+6723insTACATATATATATATATATATATATATA TA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTATAC others(23): Show GTGTATACATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03942.hp1 HG02818.hp2 HG03942.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0040 a0002c0002t0012 a0001c0001t0040 a0002c0002t0012	a0001c0001t0040g0234 a0002c0002t0012g0129 a0001c0001t0040g0234 a0002c0002t0012g0129	2	133	0.0150	30	c.467 others(47): Show c.467+6719_467+6720insGTATACATATATATATATATATATATAT AT	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(23): Show GTGTGTGTATACATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03225.hp2 HG03516.hp2 others(1): Show HG02109.hp1 HG03225.hp2 HG03516.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0128 a0001c0001t0006g0207 a0001c0001t0006g0214 others(1): Show a0001c0001t0006g0128 a0001c0001t0006g0207 a0001c0001t0006g0214 a0001c0001t0007g0186	4	135	0.0296	30	c.467 others(47): Show c.467+6719_467+6720insGTGTGTATACATATATATATATATATAT AT	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(23): Show GTGTGTGTGTATACATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	132	0.0076	30	c.467 others(47): Show c.467+6719_467+6720insGTGTGTGTATACATATATATATATATAT AT	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(23): Show GTGTGTGTGTGTGTATACATATATATATATA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0224 a0001c0001t0003g0224	1	132	0.0076	30	c.467 others(47): Show c.467+6719_467+6720insGTGTGTGTGTGTATACATATATATATAT AT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92352510	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02735.hp2 HG02698.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0190 a0001c0001t0007g0198 a0001c0001t0007g0190 a0001c0001t0007g0198	2	75	0.0267	30	c.467 others(47): Show c.467+6752_467+6753insTATATATATATATATATATATATATATA TA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92532015	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0019	1	139	0.0072	30	c.565 others(49): Show c.565-79286_565-79285insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92567373	G G	GATATATA others(23): Show GATATATATATATATATATATATATATAGAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	58	0.0172	30	c.565 others(49): Show c.565-43918_565-43917insTATAGATATATATATATATATATATA TATA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPVL3_chrX_51612020_51623912	51621503	A A	ATTCTTCT others(23): Show ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0000 a0002c0002t0003g0000	1	292	0.0034	30	c.-26 others(41): Show c.-2631_-2630insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding		2592		chrX	TogoVar
CEP112_chr17_65630537_66197133	65970385	A A	ATATATTA others(23): Show ATATATTACATGCATGCACACATCATGCATG	intron_variant intron_variant	MODIFIER	HG01517.hp2 NA18985.hp1 HG01517.hp2 NA18985.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0051 a0002c0001t0001g0102 a0002c0001t0001g0051 a0002c0001t0001g0102	2	62	0.0323	30	c.173 others(49): Show c.1737-8817_1737-8788dupCATGCATGATGTGTGCATGCATGTAA TATA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	17/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	66192041	A A	ACGCCGCC others(23): Show ACGCCGCCGCCGCCGCCGCCAACGCCGCCGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0003 a0001c0003t0006g0003	1	109	0.0092	30	c.-54 others(37): Show c.-54_-53insGCGGCGGCGTTGGCGGCGGCGGCGGCGGCG	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	1/27	8743		chr17	TogoVar
CEP126_chr11_101910010_102006062	101938159	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03704.hp2 NA18984.hp2 others(2): Show HG01109.hp2 HG03704.hp2 NA18984.hp2 NA19007.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0189 a0001c0001t0002g0203 a0001c0001t0002g0249 others(2): Show a0001c0001t0002g0189 a0001c0001t0002g0203 a0001c0001t0002g0249 a0001c0001t0004g0244 a0001c0001t0004g0255	5	153	0.0327	30	c.249 others(47): Show c.249-6089_249-6088insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP162_chr6_84119250_84232643	84194400	T T	TTTGGCTC others(23): Show TTTGGCTCTAATTTTATAGTTAAACCAAGGG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp2 HG01257.hp2 others(11): Show HG01074.hp2 HG01243.hp2 HG01257.hp2 HG01928.hp2 HG01981.hp2 HG02148.hp1 HG02293.hp2 HG02300.hp2 HG02735.hp1 HG02886.hp1 HG03492.hp1 HG03669.hp1 HG03834.hp2 HG03942.hp1	a0003 a0009 a0003 a0009	a0003c0003 a0003c0021 a0009c0018 a0003c0003 a0003c0021 a0009c0018	a0003c0003t0001 a0003c0003t0003 a0003c0021t0003 others(1): Show a0003c0003t0001 a0003c0003t0003 a0003c0021t0003 a0009c0018t0003	a0003c0003t0001g0089 a0003c0003t0003g0041 a0003c0003t0003g0042 others(11): Show a0003c0003t0001g0089 a0003c0003t0003g0041 a0003c0003t0003g0042 a0003c0003t0003g0043 a0003c0003t0003g0044 a0003c0003t0003g0086 a0003c0003t0003g0087 a0003c0003t0003g0088 a0003c0003t0003g0094 a0003c0003t0003g0095 a0003c0003t0003g0158 a0003c0003t0003g0183 a0003c0021t0003g0045 a0009c0018t0003g0085	14	212	0.0660	30	c.102 others(47): Show c.1027+454_1027+483dupCCCTTGGTTTAACTATAAAATTAGAGCC AA	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	10/26			chr6	TogoVar
CEP164_chr11_117322854_117418266	117337510	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG03710.hp1 NA18956.hp1 HG00597.hp2 HG03710.hp1 NA18956.hp1	a0005 a0011 a0005 a0011	a0005c0007 a0011c0012 a0005c0007 a0011c0012	a0005c0007t0006 a0011c0012t0006 a0005c0007t0006 a0011c0012t0006	a0005c0007t0006g0259 a0005c0007t0006g0264 a0011c0012t0006g0260 a0005c0007t0006g0259 a0005c0007t0006g0264 a0011c0012t0006g0260	3	304	0.0099	30	c.-21 others(47): Show c.-21-1042_-21-1041insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CEP164	ENSG00000110274.16	transcript	ENST00000278935.8	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr11	TogoVar

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