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
CHST9_chr18_26901481_27190308	27053256	A A	AAGAAGAA others(11): Show AAGAAGAAGAAGAAGAAGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19085.hp1 HG02630.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0232 a0001c0001t0017g0090 a0001c0001t0002g0232 a0001c0001t0017g0090	2	168	0.0119	18	c.122 others(35): Show c.122-4754_122-4753insCCTTCTTCTTCTTCTTCT	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	2/5			chr18	TogoVar
CHST9_chr18_26901481_27190308	27053256	A A	AAGAAGAA others(11): Show AAGAAGAAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp1 HG01074.hp2 others(3): Show HG00280.hp1 HG00673.hp1 HG01074.hp2 HG02602.hp2 NA18998.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0021 a0001c0001t0063	a0001c0001t0001g0038 a0001c0001t0004g0223 a0001c0001t0005g0065 others(3): Show a0001c0001t0001g0038 a0001c0001t0004g0223 a0001c0001t0005g0065 a0001c0001t0012g0155 a0001c0001t0021g0047 a0001c0001t0063g0099	6	172	0.0349	18	c.122 others(35): Show c.122-4754_122-4753insCCTTCTCCTTCTTCTTCT	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	2/5			chr18	TogoVar
CHSY3_chr5_129899465_130191634	130128229	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0008 a0006c0011t0008	a0006c0011t0008g0140 a0006c0011t0008g0140	1	123	0.0081	18	c.108 others(39): Show c.1087-55992_1087-55975dupTGTGTGTGTGTGTGTGTG	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHSY3_chr5_129899465_130191634	130143730	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0240 a0001c0001t0013g0240	1	238	0.0042	18	c.108 others(39): Show c.1087-40498_1087-40497insATATATATATATATATAT	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHSY3_chr5_129899465_130191634	130143732	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA19240.hp2 HG02818.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0013 a0002c0007t0012 a0001c0001t0013 a0002c0007t0012	a0001c0001t0013g0242 a0002c0007t0012g0129 a0001c0001t0013g0242 a0002c0007t0012g0129	2	240	0.0083	18	c.108 others(39): Show c.1087-40496_1087-40495insATATATATATATATATAT	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHSY3_chr5_129899465_130191634	130143734	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0262 a0002c0003t0006g0262	1	206	0.0049	18	c.108 others(39): Show c.1087-40494_1087-40493insGTATATATATATATATAT	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHUK_chr10_100183300_100234596	100228993	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02056.hp1 HG02071.hp2 HG01255.hp2 HG02056.hp1 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0002 a0001c0005t0001g0033 a0001c0001t0001g0002 a0001c0005t0001g0033	3	90	0.0333	18	c.105 others(33): Show c.105+417_105+434dupTGTGTGTGTGTGTGTGTG	CHUK	ENSG00000213341.11	transcript	ENST00000370397.8	protein_coding	1/20			chr10	TogoVar
CIB2_chr15_78099606_78136445	78117246	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02683.hp1 HG03486.hp1 others(8): Show HG01123.hp1 HG02683.hp1 HG03486.hp1 HG04204.hp2 NA18612.hp1 NA18942.hp1 NA18948.hp1 NA19003.hp2 NA19009.hp1 NA19081.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0015	a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0182 others(8): Show a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0182 a0001c0001t0001g0223 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0253 a0001c0001t0003g0171 a0001c0001t0004g0293 a0001c0001t0014g0144 a0001c0001t0015g0295	11	66	0.1667	18	c.87- others(33): Show c.87-5988_87-5971dupTTTTTTTTTTTTTTTTTT	CIB2	ENSG00000136425.14	transcript	ENST00000258930.8	protein_coding	2/5			chr15	TogoVar
CIB4_chr2_26576205_26646366	26589066	C C	CTCTTCTT others(11): Show CTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0121 a0002c0002t0002g0121	1	281	0.0036	18	c.329 others(35): Show c.329-5169_329-5168insAGAAGAAGAAGAAGAAGA	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6			chr2	TogoVar
CIB4_chr2_26576205_26646366	26589108	C C	CTCTTCTT others(11): Show CTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19074.hp2 NA18983.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0207 a0001c0001t0001g0190 a0001c0001t0001g0207	2	60	0.0333	18	c.329 others(35): Show c.329-5228_329-5211dupAGAAGAAGAAGAAGAAGA	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6			chr2	TogoVar
CIB4_chr2_26576205_26646366	26590258	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18949.hp1 HG02155.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0224 a0001c0001t0002g0218 a0001c0001t0001g0224 a0001c0001t0002g0218	2	58	0.0345	18	c.328 others(35): Show c.328+4900_328+4917dupTTTTTTTTTTTTTTTTTT	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6			chr2	TogoVar
CIB4_chr2_26576205_26646366	26601217	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03486.hp2 HG03139.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0162 a0001c0001t0001g0163	2	321	0.0062	18	c.187 others(35): Show c.187-5901_187-5900insTTTTTTTTTTTTTTTTTT	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	3/6			chr2	TogoVar
CIB4_chr2_26576205_26646366	26617120	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01433.hp2 HG02622.hp1 others(2): Show HG00280.hp2 HG01433.hp2 HG02622.hp1 NA18522.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0005 a0002c0002t0002 a0001c0001t0002 a0001c0001t0005 a0002c0002t0002	a0001c0001t0002g0159 a0001c0001t0005g0258 a0002c0002t0002g0272 others(2): Show a0001c0001t0002g0159 a0001c0001t0005g0258 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0302	5	131	0.0382	18	c.186 others(37): Show c.186+12272_186+12289dupCACACACACACACACACA	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	3/6			chr2	TogoVar
CIB4_chr2_26576205_26646366	26617147	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	297	0.0034	18	c.186 others(37): Show c.186+12262_186+12263insGCGCGCACACACACACAC	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	3/6			chr2	TogoVar
CIBAR1_chr8_93695550_93736527	93697765	C C	CATATATA others(11): Show CATATATATACATGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02647.hp2 HG02965.hp1 others(1): Show HG01891.hp1 HG02647.hp2 HG02965.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0104 a0001c0001t0001g0022 a0001c0001t0001g0104	4	349	0.0115	18	c.-28 others(29): Show c.-2883_-2882insATATATATACATGTATAT	CIBAR1	ENSG00000188343.14	transcript	ENST00000518322.6	protein_coding		2784		chr8	TogoVar
CIDEA_chr18_12249361_12282595	12270688	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0355 a0001c0001t0001g0355	1	35	0.0286	18	c.331 others(35): Show c.331-3394_331-3377dupAAAAAAAAAAAAAAAAAA	CIDEA	ENSG00000176194.18	transcript	ENST00000320477.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
CIDEA_chr18_12249361_12282595	12276262	G G	GGGATTAC others(11): Show GGGATTACAGGCATGAACC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG01981.hp2 HG01109.hp2 HG01243.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0367 a0001c0001t0002g0368 a0001c0001t0002g0369 a0001c0001t0002g0367 a0001c0001t0002g0368 a0001c0001t0002g0369	3	446	0.0067	18	c.513 others(33): Show c.513-860_513-843dupGGATTACAGGCATGAACC	CIDEA	ENSG00000176194.18	transcript	ENST00000320477.10	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
CINP_chr14_102343282_102367890	102359227	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp2 HG01099.hp1 others(17): Show HG00099.hp2 HG01069.hp2 HG01099.hp1 HG01258.hp2 HG01346.hp1 HG02071.hp2 HG02109.hp2 HG02132.hp1 HG02717.hp1 HG02818.hp2 HG03209.hp1 HG03688.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA19002.hp2 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0007 a0002c0003t0001 a0001c0001t0001 a0001c0001t0007 a0002c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0054 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0054 a0001c0001t0007g0048 a0002c0003t0001g0003 a0002c0003t0001g0034 a0002c0003t0001g0075 a0002c0003t0001g0082 a0002c0003t0001g0112	20	178	0.1124	18	c.176 others(33): Show c.176+174_176+191dupATATATATATATATATAT	CINP	ENSG00000100865.15	transcript	ENST00000216756.11	protein_coding	2/4			chr14	TogoVar
CINP_chr14_102343282_102367890	102359234	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18975.hp1 NA18985.hp2 others(1): Show NA18945.hp1 NA18975.hp1 NA18985.hp2 NA19007.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0083 a0002c0003t0001g0003 a0002c0003t0001g0083	4	408	0.0098	18	c.176 others(33): Show c.176+184_176+185insAATATATATATATATATA	CINP	ENSG00000100865.15	transcript	ENST00000216756.11	protein_coding	2/4			chr14	TogoVar
CIP2A_chr3_108544864_108594438	108545503	A A	AATAAAAC others(11): Show AATAAAACATTAAATTTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01433.hp2 HG02683.hp2 HG00738.hp1 HG01433.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060	3	370	0.0081	18	c.56 others(29): Show c.5645_*5646insGTAAATTTAATGTTTTAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding		4360		chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569168	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0136	1	207	0.0048	18	c.111 others(35): Show c.1113+220_1113+221insTATATATATATATATATA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569177	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02970.hp2 NA18906.hp2 HG02922.hp2 HG02970.hp2 NA18906.hp2	a0001 a0017 a0001 a0017	a0001c0003 a0017c0016 a0001c0003 a0017c0016	a0001c0003t0003 a0017c0016t0003 a0001c0003t0003 a0017c0016t0003	a0001c0003t0003g0015 a0017c0016t0003g0296 a0001c0003t0003g0015 a0017c0016t0003g0296	3	340	0.0088	18	c.111 others(35): Show c.1113+211_1113+212insGTATATATATATATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569179	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	359	0.0028	18	c.111 others(35): Show c.1113+209_1113+210insGTATATATATATATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CISH_chr3_50601489_50616774	50614500	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	70	0.0143	18	c.-28 others(29): Show c.-2868_-2851dupACACACACACACACACAC	CISH	ENSG00000114737.16	transcript	ENST00000348721.4	protein_coding		2727		chr3	TogoVar
CIT_chr12_119680791_119882320	119717838	C C	CTTTCTTT others(11): Show CTTTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0233 a0001c0001t0026g0233	1	82	0.0122	18	c.416 others(35): Show c.4168+406_4168+407insAAAAAAAAAAAAAAGAAA	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	32/47			chr12	TogoVar
CIT_chr12_119680791_119882320	119717838	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG01081.hp1 others(29): Show HG00280.hp2 HG00735.hp1 HG01081.hp1 HG01167.hp1 HG02015.hp2 HG02071.hp2 HG02109.hp2 HG02258.hp2 HG02280.hp1 HG03041.hp1 HG03139.hp1 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03710.hp1 HG03942.hp2 HG04199.hp1 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18993.hp1 NA18993.hp2 NA19002.hp2 NA19006.hp2 NA19009.hp2 NA19010.hp1 NA19065.hp2 NA19079.hp2 NA19081.hp2 NA19089.hp1 NA19090.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0015 others(1): Show a0001c0001 a0001c0008 a0001c0015 a0001c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0001t0023 a0001c0008t0001 a0001c0015t0006 a0001c0031t0004	a0001c0001t0001g0047 a0001c0001t0001g0108 a0001c0001t0001g0114 others(29): Show a0001c0001t0001g0047 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0223 a0001c0001t0002g0138 a0001c0001t0003g0106 a0001c0001t0003g0111 a0001c0001t0004g0150 a0001c0001t0004g0156 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0173 a0001c0001t0004g0204 a0001c0001t0016g0123 a0001c0001t0023g0214 a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 a0001c0015t0006g0004 a0001c0031t0004g0167	32	113	0.2832	18	c.416 others(35): Show c.4168+389_4168+406dupAAAAAAAAAAAAAAAAAA	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	32/47			chr12	TogoVar
CIT_chr12_119680791_119882320	119726011	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp2 NA19030.hp1 HG06807.hp1 HG06807.hp2 NA19030.hp1	a0001 a0001	a0001c0007 a0001c0028 a0001c0007 a0001c0028	a0001c0007t0005 a0001c0028t0003 a0001c0007t0005 a0001c0028t0003	a0001c0007t0005g0030 a0001c0007t0005g0228 a0001c0028t0003g0229 a0001c0007t0005g0030 a0001c0007t0005g0228 a0001c0028t0003g0229	3	83	0.0361	18	c.359 others(37): Show c.3591+2473_3591+2490dupACACACACACACACACAC	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	28/47			chr12	TogoVar
CIT_chr12_119680791_119882320	119745374	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0205 a0001c0003t0003g0205	1	7	0.1429	18	c.290 others(37): Show c.2905-2928_2905-2911dupTTTTTTTTTTTTTTTTTT	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	23/47			chr12	TogoVar
CIT_chr12_119680791_119882320	119803640	T T	TCACTTGG others(11): Show TCACTTGGGCCAACGAAAG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0087	1	234	0.0043	18	c.111 others(35): Show c.1112-269_1112-252dupCTTTCGTTGGCCCAAGTG	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	9/47			chr12	TogoVar
CIT_chr12_119680791_119882320	119816697	G G	GCTGTTCG others(11): Show GCTGTTCGTTAACAGTAAC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0003 a0001c0025t0003	a0001c0025t0003g0064 a0001c0025t0003g0064	1	234	0.0043	18	c.111 others(37): Show c.1111+6105_1111+6122dupGTTACTGTTAACGAACAG	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	9/47			chr12	TogoVar
CIT_chr12_119680791_119882320	119836284	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 NA19240.hp2 HG02895.hp1 HG02897.hp2 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0022 a0001c0005t0010 a0001c0005t0022	a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0022g0041 a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0022g0041	3	78	0.0385	18	c.517 others(35): Show c.517-2074_517-2057dupTTTTTTTTTTTTTTTTTT	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	5/47			chr12	TogoVar
CKAP2L_chr2_112731349_112769609	112734169	A A	ATATATGT others(11): Show ATATATGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01261.hp2 NA18990.hp1 others(1): Show HG01074.hp1 HG01261.hp2 NA18990.hp1 NA19068.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0008 a0002c0002 a0006c0008	a0002c0002t0002 a0006c0008t0002 a0002c0002t0002 a0006c0008t0002	a0002c0002t0002g0152 a0002c0002t0002g0166 a0002c0002t0002g0168 others(1): Show a0002c0002t0002g0152 a0002c0002t0002g0166 a0002c0002t0002g0168 a0006c0008t0002g0178	4	5	0.8000	18	c.46 others(29): Show c.4653_*4654insCACACACACACACATATA	CKAP2L	ENSG00000169607.13	transcript	ENST00000302450.11	protein_coding		2179		chr2	TogoVar
CKAP2L_chr2_112731349_112769609	112734169	A A	ATATGTGT others(11): Show ATATGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02615.hp1 HG03669.hp1 HG01175.hp1 HG02615.hp1 HG03669.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0116 a0001c0001t0001g0136 a0002c0002t0002g0173 a0001c0001t0001g0116 a0001c0001t0001g0136 a0002c0002t0002g0173	3	4	0.7500	18	c.46 others(29): Show c.4653_*4654insCACACACACACACACATA	CKAP2L	ENSG00000169607.13	transcript	ENST00000302450.11	protein_coding		2179		chr2	TogoVar
CKAP2L_chr2_112731349_112769609	112734169	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0011 a0001c0010t0011	a0001c0010t0011g0029 a0001c0010t0011g0029	1	2	0.5000	18	c.46 others(29): Show c.4636_*4653dupCACACACACACACACACA	CKAP2L	ENSG00000169607.13	transcript	ENST00000302450.11	protein_coding		2179		chr2	TogoVar
CKAP2_chr13_52450478_52481627	52451379	A A	AACTCCCC others(11): Show AACTCCCCCACGCCACTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG06807.hp1 NA18522.hp2 others(1): Show HG02970.hp2 HG06807.hp1 NA18522.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0005 a0001c0013t0008 a0001c0001t0005 a0001c0013t0008	a0001c0001t0005g0035 a0001c0001t0005g0129 a0001c0013t0008g0130 a0001c0001t0005g0035 a0001c0001t0005g0129 a0001c0013t0008g0130	4	404	0.0099	18	c.-41 others(29): Show c.-4178_-4177insACTCCCCCACGCCACTCC	CKAP2	ENSG00000136108.15	transcript	ENST00000258607.10	protein_coding		4098		chr13	TogoVar
CKAP2_chr13_52450478_52481627	52466010	C C	CATACACA others(11): Show CATACACATATATACACAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	404	0.0025	18	c.147 others(35): Show c.1476+563_1476+580dupTATACACATATATACACA	CKAP2	ENSG00000136108.15	transcript	ENST00000258607.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CKAP4_chr12_106232881_106253020	106237526	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01346.hp1 HG02080.hp2 others(8): Show HG01243.hp2 HG01346.hp1 HG02080.hp2 HG02717.hp2 HG02886.hp1 HG03041.hp1 HG03540.hp1 NA18906.hp1 NA18961.hp2 NA19004.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0009 others(1): Show a0001c0002 a0001c0003 a0001c0009 a0001c0020	a0001c0002t0002 a0001c0002t0003 a0001c0002t0015 others(4): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0015 a0001c0003t0002 a0001c0003t0003 a0001c0009t0001 a0001c0020t0001	a0001c0002t0002g0002 a0001c0002t0003g0003 a0001c0002t0015g0037 others(6): Show a0001c0002t0002g0002 a0001c0002t0003g0003 a0001c0002t0015g0037 a0001c0003t0002g0010 a0001c0003t0002g0059 a0001c0003t0002g0104 a0001c0003t0003g0043 a0001c0009t0001g0033 a0001c0020t0001g0113	11	146	0.0753	18	c.14 others(29): Show c.1497_*1498insTTTTTTTTTTTTTTTTTT	CKAP4	ENSG00000136026.14	transcript	ENST00000378026.5	protein_coding		354		chr12	TogoVar
CKAP5_chr11_46738048_46851280	46752161	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01081.hp2 HG01070.hp1 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0229 a0001c0001t0001g0216 a0001c0001t0001g0229	2	219	0.0091	18	c.513 others(35): Show c.5133+456_5133+473dupATATATATATATATATAT	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	38/43			chr11	TogoVar
CKAP5_chr11_46738048_46851280	46752193	T T	TATATACA others(11): Show TATATACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	71	0.0141	18	c.513 others(35): Show c.5133+441_5133+442insGTGTGTGTGTGTGTATAT	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	38/43			chr11	TogoVar
CKAP5_chr11_46738048_46851280	46752193	T T	TATATATA others(11): Show TATATATACACACACACAC	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18982.hp2 NA18984.hp1 others(3): Show NA18961.hp2 NA18982.hp2 NA18984.hp1 NA18987.hp2 NA18998.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0004t0002 a0001c0001t0002 a0001c0001t0003 a0001c0004t0002	a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0078 others(3): Show a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0003g0108 a0001c0004t0002g0049	6	76	0.0789	18	c.513 others(35): Show c.5133+441_5133+442insGTGTGTGTGTGTATATAT	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	38/43			chr11	TogoVar
CKAP5_chr11_46738048_46851280	46752193	T T	TATATATA others(11): Show TATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp2 HG01071.hp1 others(12): Show HG00741.hp2 HG01070.hp2 HG01071.hp1 NA18747.hp1 NA18949.hp2 NA18951.hp1 NA18963.hp1 NA18973.hp2 NA18978.hp2 NA18979.hp1 NA18995.hp1 NA19007.hp1 NA19057.hp2 NA19077.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0004t0002 a0001c0001t0002 a0001c0001t0003 a0001c0004t0002	a0001c0001t0002g0042 a0001c0001t0002g0062 a0001c0001t0002g0064 others(12): Show a0001c0001t0002g0042 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0094 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0112 a0001c0001t0003g0079 a0001c0001t0003g0103 a0001c0001t0003g0105 a0001c0001t0003g0252 a0001c0004t0002g0086	15	85	0.1765	18	c.513 others(35): Show c.5133+441_5133+442insGTGTGTGTGTATATATAT	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	38/43			chr11	TogoVar
CKAP5_chr11_46738048_46851280	46752193	T T	TATATATA others(11): Show TATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	71	0.0141	18	c.513 others(35): Show c.5133+441_5133+442insGTGTGTGTATATATATAT	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	38/43			chr11	TogoVar
CKAP5_chr11_46738048_46851280	46752193	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	71	0.0141	18	c.513 others(35): Show c.5133+441_5133+442insGTGTATATATATATATAT	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	38/43			chr11	TogoVar
CKAP5_chr11_46738048_46851280	46752193	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03579.hp2 HG03209.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0010 a0001c0002t0001g0271 a0001c0001t0001g0010 a0001c0002t0001g0271	2	72	0.0278	18	c.513 others(35): Show c.5133+441_5133+442insGTATATATATATATATAT	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	38/43			chr11	TogoVar
CKMT2_chr5_81228322_81271398	81250940	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02895.hp2 HG02897.hp1 others(7): Show HG01167.hp2 HG02895.hp2 HG02897.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 NA19030.hp2 NA19063.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0130 others(7): Show a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0130 a0001c0001t0001g0157 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0225 a0001c0001t0002g0231	10	93	0.1075	18	c.-20 others(33): Show c.-20-151_-20-134dupCACACACACACACACACA	CKMT2	ENSG00000131730.16	transcript	ENST00000254035.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
CLASP1_chr2_121332776_121654462	121555988	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0009 a0001c0001t0059g0009	1	26	0.0385	18	c.196 others(37): Show c.196-25681_196-25664dupAAAAAAAAAAAAAAAAAA	CLASP1	ENSG00000074054.21	transcript	ENST00000696935.1	protein_coding	2/40			chr2	TogoVar
CLASP1_chr2_121332776_121654462	121610883	C C	CGGAGGAA others(11): Show CGGAGGAAGAGGAGTTACA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0121 a0001c0001t0007g0121	1	212	0.0047	18	c.-28 others(37): Show c.-285-4721_-285-4704dupTGTAACTCCTCTTCCTCC	CLASP1	ENSG00000074054.21	transcript	ENST00000696935.1	protein_coding	1/40			chr2	TogoVar
CLASP2_chr3_33491245_33723254	33506377	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	99	0.0101	18	c.431 others(37): Show c.4317+4180_4317+4181insTTTTTTTTTTTTTTTTTT	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	37/38			chr3	TogoVar
CLASP2_chr3_33491245_33723254	33568553	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02257.hp1 HG02280.hp1 others(2): Show HG00597.hp1 HG02257.hp1 HG02280.hp1 HG02976.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0022 a0001c0001t0005g0272 a0001c0001t0005g0273 others(2): Show a0001c0001t0002g0022 a0001c0001t0005g0272 a0001c0001t0005g0273 a0001c0001t0005g0275 a0001c0001t0005g0276	5	125	0.0400	18	c.276 others(37): Show c.2764-1837_2764-1820dupTTTTTTTTTTTTTTTTTT	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	26/38			chr3	TogoVar
CLASP2_chr3_33491245_33723254	33667406	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp1 HG02970.hp2 others(4): Show HG02622.hp1 HG02647.hp1 HG02970.hp2 HG03098.hp2 HG03225.hp2 HG03486.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 others(4): Show a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0216 a0001c0001t0001g0231 a0001c0001t0004g0144	7	104	0.0673	18	c.645 others(35): Show c.645-3909_645-3892dupTTTTTTTTTTTTTTTTTT	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	6/38			chr3	TogoVar

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