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
CIBAR1_chr8_93695550_93736527	93697761	T T	TACATATA others(15): Show TACATATATATACATGTATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0089 a0001c0001t0022g0089	1	368	0.0027	22	c.-28 others(33): Show c.-2887_-2886insACATATATATACATGTATATAC	CIBAR1	ENSG00000188343.14	transcript	ENST00000518322.6	protein_coding		2788		chr8	TogoVar
CIBAR1_chr8_93695550_93736527	93697765	C C	CATATATA others(15): Show CATATATATACATGTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01109.hp1 HG01952.hp1 others(14): Show HG00673.hp1 HG01109.hp1 HG01952.hp1 HG01981.hp1 HG01993.hp2 HG03942.hp2 HG04115.hp2 NA18961.hp1 NA18982.hp1 NA18986.hp1 NA19005.hp1 NA19011.hp1 NA19055.hp1 NA19066.hp1 NA19076.hp2 NA19086.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0001 a0001c0001t0003 a0001c0001t0012	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0021 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0003g0149 a0001c0001t0012g0098	17	362	0.0470	22	c.-28 others(33): Show c.-2883_-2882insATATATATACATGTATATATAT	CIBAR1	ENSG00000188343.14	transcript	ENST00000518322.6	protein_coding		2784		chr8	TogoVar
CINP_chr14_102343282_102367890	102359227	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp1 NA18906.hp1 others(1): Show HG00323.hp1 HG00738.hp1 NA18906.hp1 NA18967.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0003 a0006c0008 a0001c0001 a0002c0003 a0006c0008	a0001c0001t0001 a0002c0003t0001 a0006c0008t0001 a0001c0001t0001 a0002c0003t0001 a0006c0008t0001	a0001c0001t0001g0004 a0002c0003t0001g0003 a0006c0008t0001g0117 a0001c0001t0001g0004 a0002c0003t0001g0003 a0006c0008t0001g0117	4	162	0.0247	22	c.176 others(37): Show c.176+170_176+191dupATATATATATATATATATATAT	CINP	ENSG00000100865.15	transcript	ENST00000216756.11	protein_coding	2/4			chr14	TogoVar
CINP_chr14_102343282_102367890	102359234	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0003	1	405	0.0025	22	c.176 others(37): Show c.176+184_176+185insAATATATATATATATATATATA	CINP	ENSG00000100865.15	transcript	ENST00000216756.11	protein_coding	2/4			chr14	TogoVar
CIP2A_chr3_108544864_108594438	108569168	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03540.hp1 NA19079.hp1 HG03130.hp2 HG03540.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0306 a0001c0001t0001g0308 a0002c0002t0001g0081 a0001c0001t0001g0306 a0001c0001t0001g0308 a0002c0002t0001g0081	3	209	0.0144	22	c.111 others(39): Show c.1113+220_1113+221insTATATATATATATATATATATA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569179	T T	TATATATA others(15): Show TATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03139.hp1 HG02630.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0025 a0001c0001t0001g0026	2	360	0.0056	22	c.111 others(39): Show c.1113+209_1113+210insGTATGTATATATATATATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108580436	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	50	0.0200	22	c.550 others(37): Show c.550-770_550-749dupGTGTGTGTGTGTGTGTGTGTGT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	5/20			chr3	TogoVar
CIT_chr12_119680791_119882320	119717838	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	82	0.0122	22	c.416 others(39): Show c.4168+406_4168+407insAAAAAAAAAAAAAAAAAAAAAA	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	32/47			chr12	TogoVar
CIT_chr12_119680791_119882320	119862832	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0003 a0004c0019t0003	a0004c0019t0003g0231 a0004c0019t0003g0231	1	233	0.0043	22	c.239 others(39): Show c.239-5135_239-5134insCTTTTTTTTTTTTTTTTTTTTT	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	3/47			chr12	TogoVar
CKAP4_chr12_106232881_106253020	106237526	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00733.hp2 HG01891.hp1 others(13): Show HG00544.hp2 HG00733.hp2 HG01891.hp1 HG02109.hp1 HG02572.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 NA18956.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0002 a0001c0002t0003 a0001c0003t0006 others(5): Show a0001c0002t0002 a0001c0002t0003 a0001c0003t0006 a0001c0003t0007 a0001c0003t0008 a0001c0003t0022 a0001c0003t0034 a0001c0004t0011	a0001c0002t0002g0004 a0001c0002t0003g0058 a0001c0002t0003g0105 others(8): Show a0001c0002t0002g0004 a0001c0002t0003g0058 a0001c0002t0003g0105 a0001c0003t0006g0022 a0001c0003t0007g0021 a0001c0003t0007g0041 a0001c0003t0008g0013 a0001c0003t0022g0098 a0001c0003t0022g0117 a0001c0003t0034g0094 a0001c0004t0011g0123	16	151	0.1060	22	c.14 others(33): Show c.1497_*1498insTTTTTTTTTTTTTTTTTTTTTT	CKAP4	ENSG00000136026.14	transcript	ENST00000378026.5	protein_coding		354		chr12	TogoVar
CKAP4_chr12_106232881_106253020	106248125	G G	GGCGGCCC others(15): Show GGCGGCCCCTCCTCCCCGCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0022 a0001c0003t0006g0022	1	416	0.0024	22	c.-29 others(31): Show c.-296_-275dupGGCGGCGGGGAGGAGGGGCCGC	CKAP4	ENSG00000136026.14	transcript	ENST00000378026.5	protein_coding		106		chr12	TogoVar
CKAP5_chr11_46738048_46851280	46752193	T T	TATATATA others(15): Show TATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01074.hp1 HG01081.hp1 others(5): Show HG00733.hp2 HG01074.hp1 HG01081.hp1 HG02148.hp1 HG02293.hp2 HG03831.hp2 NA18971.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0060 others(3): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0090 a0001c0001t0002g0100	8	78	0.1026	22	c.513 others(39): Show c.5133+441_5133+442insGTGTGTGTGTGTATATATATAT	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	38/43			chr11	TogoVar
CKAP5_chr11_46738048_46851280	46752193	T T	TATATATA others(15): Show TATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03017.hp2 NA18960.hp1 others(3): Show HG02132.hp1 HG03017.hp2 NA18960.hp1 NA18970.hp1 NA19003.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0010 a0001c0001 a0001c0004 a0001c0010	a0001c0001t0002 a0001c0001t0005 a0001c0004t0002 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0004t0002 a0001c0010t0002	a0001c0001t0002g0039 a0001c0001t0002g0093 a0001c0001t0002g0099 others(3): Show a0001c0001t0002g0039 a0001c0001t0002g0093 a0001c0001t0002g0099 a0001c0001t0005g0098 a0001c0004t0002g0113 a0001c0010t0002g0059	6	76	0.0789	22	c.513 others(39): Show c.5133+441_5133+442insGTGTGTGTGTATATATATATAT	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	38/43			chr11	TogoVar
CKMT2_chr5_81228322_81271398	81250940	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01243.hp1 HG02080.hp1 others(11): Show HG00099.hp1 HG01243.hp1 HG02080.hp1 HG02145.hp2 HG02165.hp2 HG02895.hp1 HG03239.hp2 NA18906.hp1 NA18949.hp1 NA18953.hp1 NA18983.hp1 NA19057.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001	a0001c0001t0001g0013 a0001c0001t0001g0112 a0001c0001t0001g0129 others(9): Show a0001c0001t0001g0013 a0001c0001t0001g0112 a0001c0001t0001g0129 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0227 a0001c0001t0002g0226 a0001c0001t0002g0230 a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0003t0001g0195	14	97	0.1443	22	c.-20 others(37): Show c.-20-155_-20-134dupCACACACACACACACACACACA	CKMT2	ENSG00000131730.16	transcript	ENST00000254035.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
CLASP1_chr2_121332776_121654462	121582282	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAAAGAGAAAGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0063 a0006c0007t0063	a0006c0007t0063g0016 a0006c0007t0063g0016	1	212	0.0047	22	c.195 others(41): Show c.195+23397_195+23418dupCCTTTCTCTTTCTCTCTCTCTC	CLASP1	ENSG00000074054.21	transcript	ENST00000696935.1	protein_coding	2/40			chr2	TogoVar
CLASP1_chr2_121332776_121654462	121633007	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0013 a0004c0004t0013	a0004c0004t0013g0157 a0004c0004t0013g0157	1	145	0.0069	22	c.-28 others(43): Show c.-286+16364_-286+16365insATATATATATATATATATATAT	CLASP1	ENSG00000074054.21	transcript	ENST00000696935.1	protein_coding	1/40			chr2	TogoVar
CLASP1_chr2_121332776_121654462	121633028	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp2 HG02647.hp2 others(4): Show HG02145.hp2 HG02486.hp2 HG02647.hp2 HG02723.hp2 HG03195.hp1 NA18906.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0005 a0001c0002t0010 a0001c0002t0017 others(2): Show a0001c0002t0005 a0001c0002t0010 a0001c0002t0017 a0001c0002t0055 a0002c0003t0032	a0001c0002t0005g0149 a0001c0002t0005g0193 a0001c0002t0010g0203 others(4): Show a0001c0002t0005g0149 a0001c0002t0005g0193 a0001c0002t0010g0203 a0001c0002t0017g0202 a0001c0002t0017g0205 a0001c0002t0055g0148 a0002c0003t0032g0208	7	145	0.0483	22	c.-28 others(43): Show c.-286+16343_-286+16344insCATATATATATATATATATATA	CLASP1	ENSG00000074054.21	transcript	ENST00000696935.1	protein_coding	1/40			chr2	TogoVar
CLASP2_chr3_33491245_33723254	33506377	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	99	0.0101	22	c.431 others(41): Show c.4317+4180_4317+4181insTTTTTTTTTTTTTTTTTTTTTT	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	37/38			chr3	TogoVar
CLASP2_chr3_33491245_33723254	33568553	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00738.hp1 others(19): Show HG00280.hp2 HG00323.hp1 HG00738.hp1 HG01884.hp1 HG01993.hp1 HG02074.hp1 HG02083.hp2 HG02735.hp1 HG02738.hp2 HG03041.hp2 HG03471.hp2 HG03491.hp2 HG03831.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp2 NA18981.hp1 NA19009.hp1 NA19063.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0017t0003	a0001c0001t0002g0008 a0001c0001t0002g0058 a0001c0001t0002g0059 others(19): Show a0001c0001t0002g0008 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0003g0016 a0001c0001t0003g0028 a0001c0001t0003g0037 a0001c0001t0003g0040 a0001c0001t0003g0051 a0001c0001t0003g0074 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0163 a0001c0001t0003g0165 a0001c0001t0003g0167 a0001c0001t0003g0211 a0001c0001t0003g0222 a0001c0001t0004g0213 a0001c0001t0004g0229 a0001c0017t0003g0031	22	142	0.1549	22	c.276 others(41): Show c.2764-1841_2764-1820dupTTTTTTTTTTTTTTTTTTTTTT	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	26/38			chr3	TogoVar
CLASP2_chr3_33491245_33723254	33571015	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02129.hp1 HG02273.hp2 others(5): Show HG02074.hp1 HG02129.hp1 HG02273.hp2 HG03471.hp2 HG03669.hp1 NA18946.hp2 NA18987.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0025 a0001c0001t0002g0154 a0001c0001t0003g0029 others(5): Show a0001c0001t0002g0025 a0001c0001t0002g0154 a0001c0001t0003g0029 a0001c0001t0003g0042 a0001c0001t0003g0050 a0001c0001t0003g0074 a0001c0001t0003g0159 a0001c0001t0003g0211	8	159	0.0503	22	c.270 others(39): Show c.2700-226_2700-225insAAAAAAAAAAAAAAAAAAAAAA	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	25/38			chr3	TogoVar
CLASRP_chr19_45034045_45075956	45035539	C C	CAACAACA others(15): Show CAACAACAACAACAACAACAACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02630.hp2 HG02818.hp1 others(1): Show HG02145.hp2 HG02630.hp2 HG02818.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0001g0043	4	361	0.0111	22	c.-35 others(33): Show c.-3599_-3598insAACAACAACAACAACAACAACA	CLASRP	ENSG00000104859.15	transcript	ENST00000221455.8	protein_coding		3505		chr19	TogoVar
CLASRP_chr19_45034045_45075956	45063436	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01433.hp2 NA18971.hp2 others(4): Show HG00323.hp1 HG01433.hp2 NA18971.hp2 NA18987.hp2 NA18995.hp1 NA19057.hp2 NA19090.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0011 a0001c0001 a0008c0011	a0001c0001t0001 a0008c0011t0001 a0001c0001t0001 a0008c0011t0001	a0001c0001t0001g0216 a0001c0001t0001g0234 a0001c0001t0001g0263 others(4): Show a0001c0001t0001g0216 a0001c0001t0001g0234 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0280 a0008c0011t0001g0264	7	93	0.0753	22	c.906 others(37): Show c.906-570_906-549dupTTTTTTTTTTTTTTTTTTTTTT	CLASRP	ENSG00000104859.15	transcript	ENST00000221455.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLCA1_chr1_86463927_86505259	86486017	G G	GGAGAGAG others(15): Show GGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG04184.hp1 HG03942.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0210 a0001c0002t0001g0072 a0001c0001t0001g0210 a0001c0002t0001g0072	2	71	0.0282	22	c.954 others(37): Show c.954+460_954+481dupAGAGAGAGAGAGAGAGAGAGAG	CLCA1	ENSG00000016490.16	transcript	ENST00000394711.2	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLCN4_chrX_10151975_10242660	10153124	T T	TATATATG others(15): Show TATATATGTATATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0078 a0001c0001t0009g0078	1	211	0.0047	22	c.-42 others(33): Show c.-4251_-4250insATATATGTATATACACACACAC	CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding		3850		chrX	TogoVar
CLCN4_chrX_10151975_10242660	10153138	T T	TATATATA others(15): Show TATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18973.hp1 NA18965.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0221 a0001c0001t0003g0236 a0001c0001t0003g0221 a0001c0001t0003g0236	2	115	0.0174	22	c.-42 others(33): Show c.-4237_-4236insATATATATATATATATATATAC	CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding		3836		chrX	TogoVar
CLCN4_chrX_10151975_10242660	10175917	T T	TCTCTCTC others(15): Show TCTCTCTCTCTCCCCCTCCCTCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp1 HG02809.hp1 others(3): Show HG02615.hp1 HG02622.hp1 HG02809.hp1 HG02976.hp1 HG03098.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0030 a0001c0001t0002 a0001c0001t0006 a0001c0001t0030	a0001c0001t0002g0065 a0001c0001t0006g0063 a0001c0001t0006g0064 others(3): Show a0001c0001t0002g0065 a0001c0001t0006g0063 a0001c0001t0006g0064 a0001c0001t0006g0067 a0001c0001t0006g0068 a0001c0001t0030g0066	6	262	0.0229	22	c.-11 others(39): Show c.-11-9099_-11-9078dupTCTCTCCCCCTCCCTCCCTCTC	CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CLCN4_chrX_10151975_10242660	10191692	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	42	0.0238	22	c.245 others(39): Show c.245-3212_245-3191dupTTTTTTTTTTTTTTTTTTTTTT	CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CLCN4_chrX_10151975_10242660	10212837	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02809.hp1 HG03486.hp1 others(4): Show HG00280.hp1 HG02809.hp1 HG03486.hp1 HG03490.hp1 HG03710.hp1 HG04184.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0032 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0032 a0001c0002t0013	a0001c0001t0002g0065 a0001c0001t0003g0140 a0001c0001t0003g0189 others(4): Show a0001c0001t0002g0065 a0001c0001t0003g0140 a0001c0001t0003g0189 a0001c0001t0003g0194 a0001c0001t0003g0220 a0001c0001t0032g0073 a0001c0002t0013g0032	7	63	0.1111	22	c.157 others(39): Show c.1576+186_1576+187insCACACACACACACACACACACA	CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CLCN4_chrX_10151975_10242660	10216897	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp2 HG01517.hp2 others(3): Show HG01516.hp1 HG01516.hp2 HG01517.hp2 HG02486.hp1 HG02572.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0001t0004 a0001c0002t0004	a0001c0001t0004g0028 a0001c0001t0004g0088 a0001c0001t0004g0089 others(3): Show a0001c0001t0004g0028 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0002t0004g0037 a0001c0002t0004g0085	6	48	0.1250	22	c.197 others(41): Show c.1975+2819_1975+2840dupTATATATATATATATATATATA	CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CLCN4_chrX_10151975_10242660	10216897	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01981.hp1 HG01168.hp2 HG01169.hp2 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0141 a0001c0001t0007g0142 a0001c0001t0007g0145 a0001c0001t0007g0141 a0001c0001t0007g0142 a0001c0001t0007g0145	3	45	0.0667	22	c.197 others(41): Show c.1975+2819_1975+2820insGTGTGTGTGTATATATATATAT	CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CLCN4_chrX_10151975_10242660	10216918	T T	TATATATA others(15): Show TATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0016 a0001c0001t0033g0016	1	42	0.0238	22	c.197 others(41): Show c.1975+2840_1975+2841insTATATATATACACACACACACA	CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CLCN4_chrX_10151975_10242660	10216918	T T	TATATATA others(15): Show TATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG03490.hp1 NA18906.hp2 others(3): Show HG02293.hp1 HG03490.hp1 NA18906.hp2 NA18952.hp1 NA18971.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0002t0004	a0001c0001t0001g0224 a0001c0001t0001g0233 a0001c0001t0003g0194 others(3): Show a0001c0001t0001g0224 a0001c0001t0001g0233 a0001c0001t0003g0194 a0001c0001t0005g0079 a0001c0001t0007g0107 a0001c0002t0004g0045	6	47	0.1277	22	c.197 others(41): Show c.1975+2840_1975+2841insTATATATATATACACACACACA	CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CLCN7_chr16_1439935_1480028	1440500	G G	GAAGAGAA others(15): Show GAAGAGAAGAGAAGAGAACAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01192.hp1 HG01192.hp2 others(5): Show HG01074.hp1 HG01192.hp1 HG01192.hp2 HG02451.hp1 HG02896.hp1 HG02897.hp2 HG03453.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0006 a0001c0001 a0001c0005 a0002c0006	a0001c0001t0004 a0001c0005t0004 a0002c0006t0024 others(2): Show a0001c0001t0004 a0001c0005t0004 a0002c0006t0024 a0002c0006t0025 a0002c0006t0052	a0001c0001t0004g0145 a0001c0005t0004g0266 a0001c0005t0004g0271 others(5): Show a0001c0001t0004g0145 a0001c0005t0004g0266 a0001c0005t0004g0271 a0001c0005t0004g0272 a0001c0005t0004g0279 a0002c0006t0024g0262 a0002c0006t0025g0259 a0002c0006t0052g0263	8	372	0.0215	22	c.61 others(33): Show c.6130_*6131insTTCTGTTCTCTTCTCTTCTCTT	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding		4434		chr16	TogoVar
CLCNKB_chr1_16038782_16062308	16044356	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0021 a0021	a0021c0022 a0021c0022	a0021c0022t0010 a0021c0022t0010	a0021c0022t0010g0216 a0021c0022t0010g0216	1	300	0.0033	22	c.-7- others(35): Show c.-7-129_-7-108dupACACACACACACACACACACAC	CLCNKB	ENSG00000184908.20	transcript	ENST00000375679.9	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLDN19_chr1_42728093_42745236	42729445	A A	AATATATA others(15): Show AATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG03834.hp1 HG01243.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0015 a0001c0001t0001 a0001c0002t0015	a0001c0001t0001g0001 a0001c0002t0015g0055 a0001c0001t0001g0001 a0001c0002t0015g0055	2	354	0.0056	22	c.56 others(33): Show c.5640_*5641insATATATATATATATATATATAT	CLDN19	ENSG00000164007.11	transcript	ENST00000296387.6	protein_coding		3647		chr1	TogoVar
CLDN19_chr1_42728093_42745236	42729447	A A	AATATATA others(15): Show AATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01099.hp2 HG02965.hp2 HG00544.hp2 HG01099.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	278	0.0108	22	c.56 others(33): Show c.5638_*5639insATATATATATATATATATATAT	CLDN19	ENSG00000164007.11	transcript	ENST00000296387.6	protein_coding		3645		chr1	TogoVar
CLDN19_chr1_42728093_42745236	42729449	A A	AATATATA others(15): Show AATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 NA18970.hp2 NA19002.hp2 others(1): Show HG02622.hp1 NA18970.hp2 NA19002.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	103	0.0388	22	c.56 others(33): Show c.5636_*5637insATATATATATATATATATATAT	CLDN19	ENSG00000164007.11	transcript	ENST00000296387.6	protein_coding		3643		chr1	TogoVar
CLDN19_chr1_42728093_42745236	42729451	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0019 a0001c0002t0006g0019	1	7	0.1429	22	c.56 others(33): Show c.5634_*5635insATATATATATATATATATATTT	CLDN19	ENSG00000164007.11	transcript	ENST00000296387.6	protein_coding		3641		chr1	TogoVar
CLDN1_chr3_190300707_190327446	190323003	T T	TACACACA others(15): Show TACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00738.hp1 HG01070.hp2 others(21): Show HG00438.hp2 HG00738.hp1 HG01070.hp2 HG01081.hp1 HG01255.hp1 HG01358.hp2 HG01884.hp1 HG02004.hp1 HG02145.hp2 HG02922.hp2 HG03130.hp2 NA18522.hp2 NA18952.hp2 NA18953.hp2 NA18959.hp1 NA18968.hp2 NA18972.hp2 NA18973.hp1 NA18988.hp2 NA18998.hp1 NA19003.hp1 NA19004.hp2 NA19030.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0022 a0001c0001t0045 a0001c0002t0003	a0001c0001t0001g0218 a0001c0001t0003g0035 a0001c0001t0003g0064 others(9): Show a0001c0001t0001g0218 a0001c0001t0003g0035 a0001c0001t0003g0064 a0001c0001t0003g0209 a0001c0001t0003g0214 a0001c0001t0004g0002 a0001c0001t0004g0231 a0001c0001t0009g0022 a0001c0001t0010g0220 a0001c0001t0022g0023 a0001c0001t0045g0217 a0001c0002t0003g0226	24	166	0.1446	22	c.-81 others(31): Show c.-819_-798dupGTGTGTGTGTGTGTGTGTGTGT	CLDN1	ENSG00000163347.6	transcript	ENST00000295522.4	protein_coding		558		chr3	TogoVar
CLDN1_chr3_190300707_190327446	190323027	C C	CACACACA others(15): Show CACACACACACACACACACACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	464	0.0022	22	c.-82 others(31): Show c.-822_-821insCTGTGTGTGTGTGTGTGTGTGT	CLDN1	ENSG00000163347.6	transcript	ENST00000295522.4	protein_coding		582		chr3	TogoVar
CLDN25_chr11_113774796_113785485	113784703	T T	TATGTGCA others(15): Show TATGTGCAAGGTAGTGGAGGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01069.hp1 HG01071.hp2 others(26): Show HG00323.hp1 HG01069.hp1 HG01071.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01433.hp1 HG01516.hp2 HG01891.hp2 HG01952.hp1 HG01993.hp2 HG02145.hp2 HG02148.hp2 HG02258.hp1 HG02300.hp2 HG02486.hp2 HG02622.hp2 HG02683.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG03041.hp2 HG03453.hp1 HG03540.hp1 HG03579.hp1 HG03831.hp2 HG03834.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	29	432	0.0671	22	c.42 others(33): Show c.4218_*4219insATGTGCAAGGTAGTGGAGGAAA	CLDN25	ENSG00000228607.3	transcript	ENST00000453129.3	protein_coding		4219		chr11	TogoVar
CLDN7_chr17_7254903_7267478	7262514	T T	TCGGGGGC others(15): Show TCGGGGGCGCGGCCCGCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	416	0.0024	22	c.-49 others(31): Show c.-493_-472dupGGGCGCGCGGGCCGCGCCCCCG	CLDN7	ENSG00000181885.18	transcript	ENST00000360325.11	protein_coding		37		chr17	TogoVar
CLDN7_chr17_7254903_7267478	7265112	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00738.hp1 NA18973.hp2 HG00323.hp1 HG00738.hp1 NA18973.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0002c0002 a0003c0005	a0002c0002t0002 a0003c0005t0002 a0002c0002t0002 a0003c0005t0002	a0002c0002t0002g0002 a0003c0005t0002g0013 a0002c0002t0002g0002 a0003c0005t0002g0013	3	5	0.6000	22	c.-30 others(33): Show c.-3070_-3069insAAAAAAAAAAAAAAAAAAAAAA	CLDN7	ENSG00000181885.18	transcript	ENST00000360325.11	protein_coding		2635		chr17	TogoVar
CLDN8_chr21_30209006_30221097	30210520	C C	CATATATA others(15): Show CATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01109.hp1 HG01175.hp2 others(6): Show HG01081.hp1 HG01109.hp1 HG01175.hp2 HG01975.hp1 HG02109.hp2 HG02145.hp1 HG02451.hp2 HG02809.hp2 HG03540.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0004c0005 a0002c0002 a0003c0003 a0004c0005	a0002c0002t0003 a0003c0003t0001 a0004c0005t0003 a0002c0002t0003 a0003c0003t0001 a0004c0005t0003	a0002c0002t0003g0000 a0003c0003t0001g0000 a0004c0005t0003g0000 a0002c0002t0003g0000 a0003c0003t0001g0000 a0004c0005t0003g0000	9	215	0.0419	22	c.47 others(33): Show c.4727_*4728insATATATATATATATATATATAT	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3485		chr21	TogoVar
CLDND2_chr19_51362098_51374003	51373868	C C	CCATGCTG others(15): Show CCATGCTGAACTGTGAATCAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0021 a0008c0010t0001g0021	1	438	0.0023	22	c.-52 others(33): Show c.-5292_-5291insATTTGATTCACAGTTCAGCATG	CLDND2	ENSG00000160318.6	transcript	ENST00000291715.5	protein_coding		4866		chr19	TogoVar
CLEC10A_chr17_7069537_7085251	7070600	A A	AAAAGAAA others(15): Show AAAAGAAAGAAAAGAAAGAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02809.hp2 HG03209.hp1 others(2): Show HG02109.hp2 HG02809.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0001 a0001c0003t0005 a0001c0004t0001 a0001c0002t0001 a0001c0003t0005 a0001c0004t0001	a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0003t0005g0010 others(2): Show a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0003t0005g0010 a0001c0004t0001g0037 a0001c0004t0001g0069	5	165	0.0303	22	c.44 others(33): Show c.4453_*4454insCTTTTCTTTCTTTTCTTTCTTT	CLEC10A	ENSG00000132514.14	transcript	ENST00000416562.7	protein_coding		3936		chr17	TogoVar
CLEC16A_chr16_10939564_11187186	11036544	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0016 a0001c0007t0016	a0001c0007t0016g0146 a0001c0007t0016g0146	1	103	0.0097	22	c.153 others(41): Show c.1538-3209_1538-3188dupTTTTTTTTTTTTTTTTTTTTTT	CLEC16A	ENSG00000038532.17	transcript	ENST00000409790.6	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLEC16A_chr16_10939564_11187186	11092361	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19074.hp1 NA18947.hp2 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0034 a0001c0002t0001 a0001c0002t0034	a0001c0002t0001g0257 a0001c0002t0034g0254 a0001c0002t0001g0257 a0001c0002t0034g0254	2	23	0.0870	22	c.211 others(43): Show c.2117-28234_2117-28213dupCACACACACACACACACACACA	CLEC16A	ENSG00000038532.17	transcript	ENST00000409790.6	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLEC17A_chr19_14578084_14617035	14591898	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0095 a0002c0002t0005g0095	1	217	0.0046	22	c.200 others(37): Show c.200-367_200-346dupGTGTGTGTGTGTGTGTGTGTGT	CLEC17A	ENSG00000187912.12	transcript	ENST00000417570.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLEC2B_chr12_9847369_9874354	9853071	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0135 a0001c0001t0070g0135	1	188	0.0053	22	c.22 others(31): Show c.228_*229insCTTTCTTTCTTTCTTTCTTTCT	CLEC2B	ENSG00000110852.5	transcript	ENST00000228438.3	protein_coding	5/5	228		chr12	TogoVar

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