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
CPD_chr17_30373927_30474989	30470256	C C	CACACGTG others(23): Show CACACGTGTGTGTATGTATATGTATATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	153	0.0065	30	c.54 others(41): Show c.5442_*5443insACACGTGTGTGTATGTATATGTATATACAT	CPD	ENSG00000108582.12	transcript	ENST00000225719.9	protein_coding		268		chr17	TogoVar
CPD_chr17_30373927_30474989	30470278	T T	TACATACA others(23): Show TACATACATACGTGTGTATGTATATGTATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	294	0.0034	30	c.54 others(41): Show c.5464_*5465insACATACATACGTGTGTATGTATATGTATAC	CPD	ENSG00000108582.12	transcript	ENST00000225719.9	protein_coding		290		chr17	TogoVar
CPLX1_chr4_779957_831129	826466	C C	CGGGGCGG others(23): Show CGGGGCGGGGGCGGGGGTGGGGCGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0334 a0001c0001t0003g0334	1	162	0.0062	30	c.-50 others(39): Show c.-501_-500insCGCCCCCCGCCCCACCCCCGCCCCCGCCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		338		chr4	TogoVar
CPLX2_chr5_175866578_175889021	175871410	G G	GGAGAGAG others(23): Show GGAGAGAGAGAGAGAGAGAGACAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp2 HG01071.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0002g0002 a0001c0001t0001g0002 a0001c0001t0002g0002	2	300	0.0067	30	c.-38 others(39): Show c.-384_-383insGAGAGAGAGAGAGAGAGAGACAGAGAGAGA	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		167		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871433	C C	CAGAGAGA others(23): Show CAGAGAGAGAGAGAGAGAAAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0008 a0001c0001t0065g0008	1	63	0.0159	30	c.-36 others(39): Show c.-361_-360insAGAGAGAGAGAGAGAGAAAGAGAGAGAGAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		144		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871433	C C	CAGAGAGA others(23): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	63	0.0159	30	c.-36 others(39): Show c.-361_-360insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		144		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871452	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGGGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	376	0.0027	30	c.-34 others(39): Show c.-342_-341insGAGAGAGAGAGGGAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		125		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871458	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	212	0.0047	30	c.-33 others(39): Show c.-336_-335insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		119		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871458	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGAGGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	212	0.0047	30	c.-33 others(39): Show c.-336_-335insGAGAGAGAGAGAGAGAGAGAGAGAGGAGAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		119		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871464	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAAAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 NA18969.hp2 NA19054.hp2 others(1): Show HG00733.hp1 NA18969.hp2 NA19054.hp2 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0022 a0002c0002t0004 a0001c0001t0004 a0001c0001t0022 a0002c0002t0004	a0001c0001t0004g0004 a0001c0001t0022g0004 a0002c0002t0004g0004 a0001c0001t0004g0004 a0001c0001t0022g0004 a0002c0002t0004g0004	4	335	0.0119	30	c.-33 others(39): Show c.-330_-329insGAGAGAGAGAGAAAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		113		chr5	TogoVar
CPM_chr12_68846175_68938171	68847196	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00639.hp1 others(15): Show HG00280.hp2 HG00408.hp1 HG00639.hp1 HG01496.hp2 HG01884.hp2 HG01993.hp1 HG02148.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02809.hp1 HG02976.hp1 HG03453.hp1 HG03490.hp2 HG03516.hp1 HG03579.hp1 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0002c0008	a0001c0001t0001 a0001c0001t0057 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0057 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0059 a0002c0003t0003 a0002c0003t0027 a0002c0005t0005 a0002c0005t0022 a0002c0005t0030 a0002c0008t0001	a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0205 others(15): Show a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0275 a0001c0001t0057g0254 a0001c0002t0001g0049 a0001c0002t0001g0146 a0001c0002t0001g0228 a0001c0002t0002g0261 a0001c0002t0006g0195 a0001c0002t0059g0291 a0002c0003t0003g0017 a0002c0003t0003g0031 a0002c0003t0027g0021 a0002c0005t0005g0012 a0002c0005t0022g0013 a0002c0005t0030g0020 a0002c0008t0001g0310	18	183	0.0984	30	c.92 others(41): Show c.9240_*9241insTATATATATATATATATATATATATATATA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3978		chr12	TogoVar
CPM_chr12_68846175_68938171	68847210	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03225.hp2 HG03139.hp2 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0001c0006 a0002c0003	a0001c0006t0004 a0002c0003t0014 a0001c0006t0004 a0002c0003t0014	a0001c0006t0004g0243 a0002c0003t0014g0322 a0001c0006t0004g0243 a0002c0003t0014g0322	2	332	0.0060	30	c.92 others(41): Show c.9226_*9227insCATATATATATATATATATATATATATATA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3964		chr12	TogoVar
CPNE4_chr3_131528569_132040014	131978048	G G	GATATATA others(23): Show GATATATATAAATATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	90	0.0111	30	c.-2+ others(47): Show c.-2+56489_-2+56518dupTTATATATATTTATATATATTTATATAT AT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE7_chr16_89570758_89602246	89598099	C C	CCCATCCC others(23): Show CCCATCCCCCCCACCCATCCGTTCCACCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0284 a0001c0002t0005g0284	1	238	0.0042	30	c.14 others(41): Show c.1478_*1479insCCATCCCCCCCACCCATCCGTTCCACCCAT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		854		chr16	TogoVar
CPNE8_chr12_38647203_38910591	38704826	G G	GTATATAT others(23): Show GTATATATATGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01074.hp2 HG01433.hp1 others(8): Show HG00733.hp1 HG01074.hp2 HG01433.hp1 HG03017.hp1 HG03239.hp2 HG03453.hp2 NA18954.hp1 NA18968.hp1 NA18990.hp1 NA19085.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0010 a0001c0002t0002 a0001c0002t0010	a0001c0002t0002g0005 a0001c0002t0002g0034 a0001c0002t0002g0040 others(8): Show a0001c0002t0002g0005 a0001c0002t0002g0034 a0001c0002t0002g0040 a0001c0002t0002g0045 a0001c0002t0002g0053 a0001c0002t0002g0270 a0001c0002t0002g0310 a0001c0002t0002g0316 a0001c0002t0002g0340 a0001c0002t0010g0075 a0001c0002t0010g0079	11	161	0.0683	30	c.915 others(47): Show c.915-1906_915-1905insTATATATATATATATATACACATATATA TA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38717429	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	50	0.0200	30	c.914 others(47): Show c.914+6342_914+6343insTATATATATATATATATATATATATATA CA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38760435	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp2 HG02572.hp1 others(2): Show HG02055.hp1 HG02486.hp2 HG02572.hp1 HG02818.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0007 a0002c0005t0001 a0001c0001t0001 a0001c0001t0007 a0002c0005t0001	a0001c0001t0001g0233 a0001c0001t0001g0261 a0001c0001t0001g0329 others(2): Show a0001c0001t0001g0233 a0001c0001t0001g0261 a0001c0001t0001g0329 a0001c0001t0007g0339 a0002c0005t0001g0012	5	139	0.0360	30	c.722 others(45): Show c.722+411_722+412insTATATATATATATATATATATATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902417	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	235	0.0043	30	c.98+ others(45): Show c.98+3019_98+3020insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPNE9_chr3_9698833_9734908	9731752	T T	TCGCCGCC others(23): Show TCGCCGCCGCTGCTGCCGCCGCCGCTGCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	434	0.0023	30	c.20 others(41): Show c.2060_*2061insCGCCGCCGCTGCTGCCGCCGCCGCTGCTGC	CPNE9	ENSG00000144550.14	transcript	ENST00000383832.8	protein_coding		1845		chr3	TogoVar
CPPED1_chr16_12654799_12808887	12766256	T T	TATATATA others(23): Show TATATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0154 a0001c0001t0009g0154	1	248	0.0040	30	c.289 others(49): Show c.289+14928_289+14929insCTCTCTATATATATATATATATATAT ATAT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPQ_chr8_96640242_97148501	96730866	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	46	0.0217	30	c.-34 others(49): Show c.-34-53972_-34-53971insATATATATATATATATATATATATAT ATAT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96737355	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	53	0.0189	30	c.-34 others(49): Show c.-34-47495_-34-47494insATATATATATATATATATATATATAT ATAT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96926576	C C	CTCTTCCT others(23): Show CTCTTCCTCTTCCTCTTCCTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19088.hp2 NA19060.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0101 a0001c0002t0001g0050 a0001c0002t0001g0101	2	19	0.1053	30	c.850 others(49): Show c.850-39354_850-39353insCTCTTCCTCTTCCTCTTCTTCTTCTT CTTC	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96926576	C C	CTCTTCCT others(23): Show CTCTTCCTCTTCCTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA19057.hp2 NA18979.hp1 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0106 a0001c0002t0001g0097 a0001c0002t0001g0106	2	19	0.1053	30	c.850 others(49): Show c.850-39354_850-39353insCTCTTCCTCTTCTTCTTCTTCTTCTT CTTC	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96926576	C C	CTCTTCCT others(23): Show CTCTTCCTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02004.hp1 HG02895.hp2 HG01081.hp1 HG02004.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0034 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0001g0034 a0001c0001t0002g0011 a0001c0001t0002g0012	3	20	0.1500	30	c.850 others(49): Show c.850-39354_850-39353insCTCTTCTTCTTCTTCTTCTTCTTCTT CTTC	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96926576	C C	CTCTTCTT others(23): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG04184.hp2 NA18945.hp2 others(1): Show HG03195.hp1 HG04184.hp2 NA18945.hp2 NA18964.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0011 a0001c0001 a0001c0002 a0008c0011	a0001c0001t0001 a0001c0002t0001 a0008c0011t0002 a0001c0001t0001 a0001c0002t0001 a0008c0011t0002	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0002t0001g0124 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0002t0001g0124 a0008c0011t0002g0037	4	21	0.1905	30	c.850 others(49): Show c.850-39340_850-39311dupTCTTCTTCTTCTTCTTCTTCTTCTTC TTCT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPSF2_chr14_92116969_92177145	92173331	A A	ATATATAT others(23): Show ATATATATATATACACACGTATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	356	0.0028	30	c.11 others(43): Show c.11587_*11588insTATATATATATACACACGTATATATATATG	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1187		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173388	T T	TACATATG others(23): Show TACATATGTATATATATATGTATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0113 a0001c0001t0113	a0001c0001t0113g0245 a0001c0001t0113g0245	1	384	0.0026	30	c.11 others(43): Show c.11644_*11645insACATATGTATATATATATGTATATATATAC	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1244		chr14	TogoVar
CPSF6_chr12_69234569_69279358	69236163	C C	CTAAAATA others(23): Show CTAAAATATATATAGCATATATATTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0144 a0001c0001t0060g0144	1	388	0.0026	30	c.-34 others(41): Show c.-3484_-3483insTAAAATATATATAGCATATATATTATATAT	CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding		3405		chr12	TogoVar
CPSF6_chr12_69234569_69279358	69236174	A A	ATAGCATA others(23): Show ATAGCATATATATTATATATTAAAATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0051 a0001c0001t0027g0051	1	386	0.0026	30	c.-34 others(41): Show c.-3473_-3472insTAGCATATATATTATATATTAAAATATATG	CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding		3394		chr12	TogoVar
CPSF6_chr12_69234569_69279358	69236204	A A	ATAGCATA others(23): Show ATAGCATATATATTATATATTAAAATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0209 a0001c0001t0014g0209	1	381	0.0026	30	c.-34 others(41): Show c.-3443_-3442insTAGCATATATATTATATATTAAAATATATG	CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding		3364		chr12	TogoVar
CPSF6_chr12_69234569_69279358	69236234	A A	ATAGCATA others(23): Show ATAGCATATATATTATATATTAAAATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01167.hp1 HG01169.hp2 others(6): Show HG00323.hp2 HG01167.hp1 HG01169.hp2 HG01346.hp2 HG01358.hp2 HG02109.hp1 NA18960.hp2 NA18967.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0017 a0001c0001t0002 a0001c0001t0011 a0001c0001t0017	a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0065 others(4): Show a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0065 a0001c0001t0002g0154 a0001c0001t0011g0202 a0001c0001t0017g0004 a0001c0001t0017g0021	9	180	0.0500	30	c.-34 others(41): Show c.-3413_-3412insTAGCATATATATTATATATTAAAATATATG	CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding		3334		chr12	TogoVar
CPSF6_chr12_69234569_69279358	69236324	G G	GTAGCATA others(23): Show GTAGCATATATATTATATATTAAAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02148.hp1 NA19043.hp2 HG02056.hp2 HG02148.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0057 a0001c0001t0002 a0001c0001t0009 a0001c0001t0057	a0001c0001t0002g0056 a0001c0001t0009g0155 a0001c0001t0057g0177 a0001c0001t0002g0056 a0001c0001t0009g0155 a0001c0001t0057g0177	3	244	0.0123	30	c.-33 others(41): Show c.-3323_-3322insTAGCATATATATTATATATTAAAATATATA	CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding		3244		chr12	TogoVar
CPXM2_chr10_123740639_123896807	123881225	A A	ACCCTCCC others(23): Show ACCCTCCCCTCCCCTCCCCTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	148	0.0068	30	c.305 others(45): Show c.305-917_305-916insAAGGGGAGGGGAGGGGAGGGGAGGGGAGGG	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	1/13			chr10	TogoVar
CPXM2_chr10_123740639_123896807	123881225	A A	ACCCTCCC others(23): Show ACCCTCCCCTCCCCTCCCCTCCCCTTCCCTC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG04228.hp2 HG01168.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0062 a0001c0003t0001g0064 a0001c0001t0001g0062 a0001c0003t0001g0064	2	149	0.0134	30	c.305 others(45): Show c.305-917_305-916insGAGGGAAGGGGAGGGGAGGGGAGGGGAGGG	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	1/13			chr10	TogoVar
CPXM2_chr10_123740639_123896807	123881232	T T	TCTTCCCT others(23): Show TCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19058.hp1 NA19000.hp1 NA19058.hp1	a0001 a0001	a0001c0004 a0001c0013 a0001c0004 a0001c0013	a0001c0004t0001 a0001c0013t0018 a0001c0004t0001 a0001c0013t0018	a0001c0004t0001g0212 a0001c0013t0018g0213 a0001c0004t0001g0212 a0001c0013t0018g0213	2	115	0.0174	30	c.305 others(45): Show c.305-953_305-924dupGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	1/13			chr10	TogoVar
CR1L_chr1_207640133_207728703	207683010	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0284 a0004c0004t0001g0284	1	229	0.0044	30	c.378 others(45): Show c.378-861_378-860insCTTTCTTTCTTTCTTTTTTTCTTTCTTTCT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617507	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0130 a0002c0002t0001g0130	1	77	0.0130	30	c.689 others(47): Show c.6890-563_6890-562insATATATATATATATATATATATATATAT GT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617507	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA18994.hp1 NA19002.hp1 HG00099.hp2 NA18994.hp1 NA19002.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0002 a0002c0002t0001 a0004c0004t0002	a0002c0002t0001g0099 a0004c0004t0002g0324 a0004c0004t0002g0349 a0002c0002t0001g0099 a0004c0004t0002g0324 a0004c0004t0002g0349	3	79	0.0380	30	c.689 others(47): Show c.6890-563_6890-562insATATATATATATATATATATATATATGT GT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617507	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02486.hp1 HG03831.hp2 others(1): Show HG02027.hp2 HG02486.hp1 HG03831.hp2 NA18978.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0002 a0002c0002t0001 a0004c0004t0002	a0002c0002t0001g0169 a0002c0002t0001g0212 a0004c0004t0002g0312 others(1): Show a0002c0002t0001g0169 a0002c0002t0001g0212 a0004c0004t0002g0312 a0004c0004t0002g0331	4	80	0.0500	30	c.689 others(47): Show c.6890-563_6890-562insATATATATATATATATATATATATGTGT GT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617507	A A	ATATATAT others(23): Show ATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02083.hp1 HG03654.hp2 others(1): Show HG01081.hp2 HG02083.hp1 HG03654.hp2 NA18980.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0002c0002t0003 a0004c0004t0002 a0002c0002t0001 a0002c0002t0003 a0004c0004t0002	a0002c0002t0001g0213 a0002c0002t0003g0117 a0004c0004t0002g0328 others(1): Show a0002c0002t0001g0213 a0002c0002t0003g0117 a0004c0004t0002g0328 a0004c0004t0002g0352	4	80	0.0500	30	c.689 others(47): Show c.6890-563_6890-562insATATATATATATATATATATATGTGTGT GT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617507	A A	ATATATAT others(23): Show ATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0123 a0002c0002t0001g0123	1	77	0.0130	30	c.689 others(47): Show c.6890-563_6890-562insATATATATATATATATATATGTGTGTGT GT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR2_chr1_207449328_207494892	207458075	C C	CACACACA others(23): Show CACACACACACACACATACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0187 a0001c0007t0003g0187	1	376	0.0027	30	c.58+ others(45): Show c.58+3614_58+3615insTACACACACACACATACACACACACACACA	CR2	ENSG00000117322.19	transcript	ENST00000367057.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR2_chr1_207449328_207494892	207458077	C C	CACACACA others(23): Show CACACACACACACACATACACACACACACAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 NA19011.hp2 HG03491.hp2 HG03492.hp2 NA19011.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0183	3	327	0.0092	30	c.58+ others(45): Show c.58+3616_58+3617insTACACACACACACATACACACACACACACA	CR2	ENSG00000117322.19	transcript	ENST00000367057.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRACDL_chr2_98788846_98941225	98795040	A A	AATATATA others(23): Show AATATATAAAAATTTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	285	0.0035	30	c.275 others(47): Show c.2750-370_2750-369insATATATATATATATATAAATTTTTATAT AT	CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	9/9			chr2	TogoVar
CRACD_chr4_56044098_56335609	56070847	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0055 a0002c0005t0007g0055	1	11	0.0909	30	c.-33 others(51): Show c.-336+21562_-336+21591dupGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACD_chr4_56044098_56335609	56183235	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02572.hp1 HG02886.hp1 others(3): Show HG02148.hp1 HG02572.hp1 HG02886.hp1 HG03209.hp2 NA19043.hp2 NA21309.hp1	a0002 a0003 a0007 others(2): Show a0002 a0003 a0007 a0020 a0027	a0002c0002 a0002c0007 a0003c0006 others(3): Show a0002c0002 a0002c0007 a0003c0006 a0007c0010 a0020c0037 a0027c0044	a0002c0002t0002 a0002c0007t0005 a0003c0006t0001 others(3): Show a0002c0002t0002 a0002c0007t0005 a0003c0006t0001 a0007c0010t0008 a0020c0037t0001 a0027c0044t0001	a0002c0002t0002g0083 a0002c0007t0005g0035 a0003c0006t0001g0018 others(3): Show a0002c0002t0002g0083 a0002c0007t0005g0035 a0003c0006t0001g0018 a0007c0010t0008g0094 a0020c0037t0001g0104 a0027c0044t0001g0039	6	42	0.1429	30	c.-18 others(49): Show c.-189+3830_-189+3859dupTAAAATAAAATAAAATAAAATAAAAT AAAA	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACD_chr4_56044098_56335609	56273382	T T	TCCTTTCT others(23): Show TCCTTTCTTCCCTCTCTCTCCCCCACTTCTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0111 a0002c0002t0002g0111	1	248	0.0040	30	c.-17 others(45): Show c.-17+903_-17+932dupCTCTCTCCCCCACTTCTCCCTTTCTTCCCT	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACD_chr4_56044098_56335609	56286525	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0047 a0002c0002t0002g0047	1	47	0.0213	30	c.-16 others(49): Show c.-16-11667_-16-11666insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACR2A_chr12_3610328_3758109	3639457	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02280.hp1 HG01361.hp1 HG02280.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0007 a0001c0001 a0008c0007	a0001c0001t0001 a0008c0007t0001 a0001c0001t0001 a0008c0007t0001	a0001c0001t0001g0203 a0008c0007t0001g0050 a0001c0001t0001g0203 a0008c0007t0001g0050	2	77	0.0260	30	c.127 others(49): Show c.1272-1004_1272-1003insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	13/19			chr12	TogoVar

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