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
CACNG6_chr19_53986637_54017666	54004900	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0218 a0001c0001t0004g0218	1	390	0.0026	24	c.544 others(41): Show c.544+5133_544+5156dupTAAATAAATAAATAAATAAATAAA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54006091	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA19091.hp2 HG01993.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0370 a0001c0001t0010g0186 a0001c0001t0001g0370 a0001c0001t0010g0186	2	55	0.0364	24	c.545 others(41): Show c.545-5852_545-5829dupTAAATAAATAAATAAATAAATAAA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54011227	T T	TATATATA others(17): Show TATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0373 a0001c0001t0007g0373	1	105	0.0095	24	c.545 others(39): Show c.545-723_545-722insTATATATATATATACACACACACA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54011227	T T	TATATATA others(17): Show TATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0242 a0001c0001t0007g0242	1	105	0.0095	24	c.545 others(39): Show c.545-723_545-722insTATATATATATATATATATACACA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54015396	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG02922.hp1 others(3): Show HG01109.hp1 HG02109.hp2 HG02922.hp1 HG03516.hp1 HG03579.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0013 a0001c0001t0019 others(2): Show a0001c0001t0012 a0001c0001t0013 a0001c0001t0019 a0001c0001t0035 a0001c0002t0018	a0001c0001t0012g0096 a0001c0001t0012g0228 a0001c0001t0013g0090 others(3): Show a0001c0001t0012g0096 a0001c0001t0012g0228 a0001c0001t0013g0090 a0001c0001t0019g0254 a0001c0001t0035g0251 a0001c0002t0018g0272	6	225	0.0267	24	c.32 others(35): Show c.3207_*3208insTTCCTTCCTTCCTTCCTTCCTTCC	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		2731		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906081	C C	CCTTCTTC others(17): Show CCTTCTTCTTCTTCCTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	274	0.0036	24	c.-34 others(35): Show c.-3466_-3465insCTTCTTCTTCTTCCTCTTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3196		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906084	C C	CCTCCTCC others(17): Show CCTCCTCCTCCTCCTCCTCCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0076 a0001c0001t0021g0076	1	124	0.0081	24	c.-34 others(35): Show c.-3463_-3462insCTCCTCCTCCTCCTCCTCCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3193		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906084	C C	CCTCCTCC others(17): Show CCTCCTCCTCCTCCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	124	0.0081	24	c.-34 others(35): Show c.-3463_-3462insCTCCTCCTCCTCCTTCTTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3193		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906084	C C	CCTCCTCC others(17): Show CCTCCTCCTCCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp2 HG01516.hp2 others(1): Show HG01192.hp1 HG01192.hp2 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0286 a0001c0001t0001g0287 others(1): Show a0001c0001t0001g0270 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0305	4	127	0.0315	24	c.-34 others(35): Show c.-3463_-3462insCTCCTCCTCCTTCTTCTTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3193		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906084	C C	CCTCCTCC others(17): Show CCTCCTCCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG02486.hp1 NA20752.hp1 HG01346.hp2 HG02486.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0265 a0001c0001t0001g0299 a0001c0001t0001g0078 a0001c0001t0001g0265 a0001c0001t0001g0299	3	126	0.0238	24	c.-34 others(35): Show c.-3463_-3462insCTCCTCCTTCTTCTTCTTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3193		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906084	C C	CCTTCTTC others(17): Show CCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	124	0.0081	24	c.-34 others(35): Show c.-3463_-3462insCTTCTTCTTCTTCTTCTTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3193		chr19	TogoVar
CADM1_chr11_115164236_115509415	115284085	A A	ACTCTCTC others(17): Show ACTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0073 a0001c0005t0010g0073	1	164	0.0061	24	c.125 others(43): Show c.125-43666_125-43665insAGAGAGAGAGAGAGAGAGAGAGAG	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115284087	A A	ACTCTCTC others(17): Show ACTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0141 a0001c0001t0016g0141	1	57	0.0175	24	c.125 others(43): Show c.125-43668_125-43667insGGAGAGAGAGAGAGAGAGAGAGAG	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115284087	A A	ACTCTCTC others(17): Show ACTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02602.hp2 HG02738.hp2 HG01952.hp1 HG02602.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0055 a0001c0001t0001g0071 a0001c0001t0001g0078	3	59	0.0508	24	c.125 others(43): Show c.125-43691_125-43668dupAGAGAGAGAGAGAGAGAGAGAGAG	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115284114	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTGTGTG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0151 a0001c0001t0007g0151	1	129	0.0078	24	c.125 others(43): Show c.125-43695_125-43694insCACACAGAGAGAGAGAGAGAGAGA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115306072	C C	CCACACAC others(17): Show CCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01192.hp1 HG01256.hp2 others(2): Show HG01106.hp2 HG01192.hp1 HG01256.hp2 HG03540.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0015 a0001c0001t0040 others(2): Show a0001c0001t0013 a0001c0001t0015 a0001c0001t0040 a0001c0001t0057 a0001c0001t0062	a0001c0001t0013g0086 a0001c0001t0015g0138 a0001c0001t0040g0142 others(2): Show a0001c0001t0013g0086 a0001c0001t0015g0138 a0001c0001t0040g0142 a0001c0001t0057g0143 a0001c0001t0062g0033	5	56	0.0893	24	c.125 others(43): Show c.125-65676_125-65653dupTGTGTGTGTGTGTGTGTGTGTGTG	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115306072	C C	CCCCACAC others(17): Show CCCCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0066 a0001c0001t0022g0066	1	52	0.0192	24	c.125 others(43): Show c.125-65653_125-65652insTGTGTGTGTGTGTGTGTGTGTGGG	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115340658	A A	ATATATAT others(17): Show ATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0097 a0001c0001t0031g0097	1	55	0.0182	24	c.125 others(45): Show c.125-100239_125-100238insAAAAAAAAAAAAAATATATATATA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM2_chr3_84953989_86079429	85034790	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	76	0.0132	24	c.61+ others(41): Show c.61+75123_61+75146dupTTTTTTTTTTTTTTTTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85107631	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0005 a0001c0002t0051g0005	1	104	0.0096	24	c.61+ others(43): Show c.61+147967_61+147990dupCTTTCTTTCTTTCTTTCTTTCTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85199370	T T	TGTATGAG others(17): Show TGTATGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01516.hp1 HG01517.hp1 others(4): Show HG00621.hp1 HG01516.hp1 HG01517.hp1 HG04199.hp2 NA18952.hp1 NA19060.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0047	a0001c0001t0001g0108 a0001c0001t0002g0044 a0001c0001t0002g0045 others(4): Show a0001c0001t0001g0108 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0003g0104 a0001c0001t0009g0008 a0001c0001t0009g0066 a0001c0001t0047g0038	7	110	0.0636	24	c.61+ others(43): Show c.61+239703_61+239704insTATGAGAGAGAGAGAGAGAGAGAG	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85212812	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG04204.hp2 NA18949.hp1 HG01981.hp1 HG04204.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0099 a0001c0001t0003g0068 a0001c0001t0003g0121 a0001c0001t0001g0099 a0001c0001t0003g0068 a0001c0001t0003g0121	3	81	0.0370	24	c.61+ others(43): Show c.61+253196_61+253219dupTTCTTTCTTTCTTTCTTTCTTTCT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85354618	C C	CAGAGAGA others(17): Show CAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG01515.hp2 others(1): Show HG00280.hp1 HG00738.hp1 HG01515.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0045	a0001c0001t0001g0080 a0001c0001t0002g0119 a0001c0001t0003g0062 others(1): Show a0001c0001t0001g0080 a0001c0001t0002g0119 a0001c0001t0003g0062 a0001c0001t0045g0134	4	29	0.1379	24	c.62- others(43): Show c.62-371902_62-371879dupGAGAGAGAGAGAGAGAGAGAGAGA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03540.hp1 HG02886.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0016 a0001c0002t0007 a0001c0002t0016	a0001c0002t0007g0095 a0001c0002t0016g0098 a0001c0002t0007g0095 a0001c0002t0016g0098	2	38	0.0526	24	c.62- others(43): Show c.62-366855_62-366854insATATATATATATATATATATTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(17): Show ATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	37	0.0270	24	c.62- others(43): Show c.62-366855_62-366854insATATATATATATTTTTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85449052	A A	AAATAATA others(17): Show AAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0104 a0001c0001t0003g0104	1	49	0.0204	24	c.62- others(43): Show c.62-277469_62-277446dupAATAATAATAATAATAATAATAAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85541773	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03195.hp2 HG02257.hp1 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0034 a0001c0003t0006 a0001c0002t0034 a0001c0003t0006	a0001c0002t0034g0046 a0001c0003t0006g0028 a0001c0002t0034g0046 a0001c0003t0006g0028	2	113	0.0177	24	c.62- others(43): Show c.62-184748_62-184747insATATATATATATATATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85543420	A A	ATGTGTGT others(17): Show ATGTGTGTGGGGGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01516.hp1 HG01517.hp1 others(6): Show HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01981.hp2 HG03710.hp1 HG04115.hp2 NA18906.hp1 NA18950.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039	a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0119 others(6): Show a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0119 a0001c0001t0003g0042 a0001c0001t0004g0105 a0001c0001t0032g0112 a0001c0001t0035g0036 a0001c0001t0036g0106 a0001c0001t0039g0072	9	69	0.1304	24	c.62- others(43): Show c.62-183094_62-183093insGGGGTGTGTGTGTGTGTGTGTGTG	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85543423	T T	TGTGTGGG others(17): Show TGTGTGGGGGTGTGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02486.hp2 HG02818.hp2 others(1): Show HG00423.hp2 HG02486.hp2 HG02818.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0001 a0001c0001t0002 a0001c0001t0015	a0001c0001t0001g0065 a0001c0001t0002g0138 a0001c0001t0015g0077 others(1): Show a0001c0001t0001g0065 a0001c0001t0002g0138 a0001c0001t0015g0077 a0001c0001t0015g0133	4	146	0.0274	24	c.62- others(43): Show c.62-183094_62-183093insGGGGTGTGTGTGTGTGTGGGTGTG	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85568444	T T	TTTCTTTC others(17): Show TTTCTTTCTTTCTTTCTTTCTTTCA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01361.hp2 HG03492.hp2 others(5): Show HG00423.hp1 HG01361.hp2 HG03492.hp2 HG04199.hp1 HG04228.hp1 NA18977.hp1 NA19060.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0018 a0001c0001t0047	a0001c0001t0001g0049 a0001c0001t0003g0047 a0001c0001t0004g0053 others(5): Show a0001c0001t0001g0049 a0001c0001t0003g0047 a0001c0001t0004g0053 a0001c0001t0004g0064 a0001c0001t0009g0066 a0001c0001t0010g0146 a0001c0001t0018g0035 a0001c0001t0047g0038	8	137	0.0584	24	c.62- others(43): Show c.62-158058_62-158057insTTCATTCTTTCTTTCTTTCTTTCT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85568473	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01981.hp1 HG03239.hp1 HG01884.hp1 HG01981.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0021 a0001c0001t0002 a0001c0001t0003 a0001c0001t0021	a0001c0001t0002g0051 a0001c0001t0003g0121 a0001c0001t0021g0126 a0001c0001t0002g0051 a0001c0001t0003g0121 a0001c0001t0021g0126	3	55	0.0545	24	c.62- others(43): Show c.62-158030_62-158007dupTTTCTTTCTTTCTTTCTTTCTTTC	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85577984	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01361.hp2 HG02572.hp2 others(3): Show HG00621.hp2 HG01361.hp2 HG02572.hp2 HG02922.hp2 HG03209.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0038 a0001c0003t0024	a0001c0001t0001g0049 a0001c0001t0004g0075 a0001c0001t0008g0101 others(3): Show a0001c0001t0001g0049 a0001c0001t0004g0075 a0001c0001t0008g0101 a0001c0001t0010g0067 a0001c0001t0038g0142 a0001c0003t0024g0004	6	7	0.8571	24	c.62- others(43): Show c.62-148515_62-148492dupCCTTCCTTCCTTCCTTCCTTCCTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85898955	A A	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0076 a0001c0001t0015g0076	1	75	0.0133	24	c.529 others(43): Show c.529+12629_529+12630insATATATATATATATATATTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122315272	G G	GCTCTCTC others(17): Show GCTCTCTCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0108 a0001c0003t0002g0108	1	114	0.0088	24	c.48 others(35): Show c.4892_*4893insAGAGAGAGAGAGAGAGAGAGAGAG	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding		3138		chr7	TogoVar
CADPS2_chr7_122313411_122891460	122579450	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02896.hp1 HG03017.hp2 others(3): Show HG02647.hp1 HG02896.hp1 HG03017.hp2 HG03195.hp1 HG03669.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0002c0006t0002	a0001c0001t0001g0073 a0001c0002t0002g0060 a0001c0002t0002g0097 others(3): Show a0001c0001t0001g0073 a0001c0002t0002g0060 a0001c0002t0002g0097 a0001c0002t0004g0102 a0001c0002t0004g0103 a0002c0006t0002g0055	6	41	0.1463	24	c.133 others(43): Show c.1335+1705_1335+1728dupATATATATATATATATATATATAT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	7/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122708520	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0087 a0001c0005t0001g0087	1	57	0.0175	24	c.453 others(43): Show c.453+28411_453+28434dupATATATATATATATATATATATAT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	2/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122827416	G G	GGAGGTTG others(17): Show GGAGGTTGAGGTGGGCGGATCAACT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00609.hp1 others(110): Show HG00280.hp1 HG00280.hp2 HG00609.hp1 HG00609.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18953.hp1 NA18953.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0002c0006 a0003c0009 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0010 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0004 a0001c0010t0001 a0002c0006t0001 a0002c0006t0002 a0003c0009t0006 a0004c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(110): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0121 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0064 a0001c0001t0002g0076 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0095 a0001c0001t0002g0107 a0001c0001t0003g0024 a0001c0001t0003g0031 a0001c0001t0003g0037 a0001c0001t0003g0042 a0001c0001t0003g0062 a0001c0001t0003g0079 a0001c0001t0003g0094 a0001c0001t0003g0100 a0001c0001t0003g0113 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0004g0099 a0001c0001t0008g0118 a0001c0001t0009g0029 a0001c0001t0011g0025 a0001c0002t0001g0002 a0001c0002t0001g0010 a0001c0002t0001g0012 a0001c0002t0001g0026 a0001c0002t0001g0038 a0001c0002t0001g0044 a0001c0002t0001g0054 a0001c0002t0001g0065 a0001c0002t0001g0069 a0001c0002t0001g0083 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0002g0052 a0001c0002t0002g0057 a0001c0002t0002g0060 a0001c0002t0002g0097 a0001c0002t0002g0114 a0001c0002t0003g0116 a0001c0002t0004g0068 a0001c0002t0004g0102 a0001c0002t0004g0103 a0001c0002t0005g0036 a0001c0002t0007g0086 a0001c0003t0001g0009 a0001c0003t0001g0011 a0001c0003t0001g0027 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0041 a0001c0003t0001g0046 a0001c0003t0001g0074 a0001c0003t0001g0085 a0001c0003t0001g0104 a0001c0003t0001g0110 a0001c0003t0001g0115 a0001c0003t0001g0125 a0001c0003t0002g0023 a0001c0003t0002g0032 a0001c0003t0002g0082 a0001c0003t0002g0108 a0001c0003t0002g0112 a0001c0003t0005g0078 a0001c0003t0010g0109 a0001c0004t0001g0111 a0001c0004t0002g0033 a0001c0004t0002g0049 a0001c0004t0002g0056 a0001c0004t0002g0093 a0001c0005t0001g0087 a0001c0005t0001g0126 a0001c0005t0004g0072 a0001c0010t0001g0120 a0002c0006t0001g0059 a0002c0006t0002g0055 a0003c0009t0006g0122 a0004c0008t0001g0092	113	124	0.9113	24	c.339 others(43): Show c.339+58582_339+58583insAGTTGATCCGCCCACCTCAACCTC	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	1/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122858115	G G	GGGTCCAT others(17): Show GGGTCCATTTTACAGAGTGCCGATT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0011 a0001c0003t0001g0011	1	124	0.0081	24	c.339 others(43): Show c.339+27860_339+27883dupAATCGGCACTCTGTAAAATGGACC	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	1/29			chr7	TogoVar
CADPS_chr3_62393348_62880416	62525679	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	55	0.0182	24	c.229 others(43): Show c.2291+7168_2291+7191dupCACACACACACACACACACACACA	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	13/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62599745	A A	ATTATATA others(17): Show ATTATATATATTGTATATATAATAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp2 HG03017.hp2 HG01975.hp1 HG01975.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0103 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0103	3	139	0.0216	24	c.132 others(43): Show c.1326-6998_1326-6997insATATTATATATACAATATATATAA	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	6/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62648691	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	6	0.1667	24	c.120 others(43): Show c.1203+2155_1203+2156insTTTTTTTTTTTTTTTTTTTTTTTT	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	5/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62731805	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02922.hp2 HG01074.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0018 a0001c0002t0001g0056 a0001c0001t0001g0018 a0001c0002t0001g0056	2	79	0.0253	24	c.888 others(43): Show c.888+21612_888+21635dupTTTTTTTTTTTTTTTTTTTTTTTT	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	3/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62843492	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	113	0.0088	24	c.441 others(43): Show c.441+31073_441+31096dupACACACACACACACACACACACAC	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	1/29			chr3	TogoVar
CAGE1_chr6_7321659_7394742	7358027	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA19010.hp1 NA19070.hp1 HG01243.hp1 NA19010.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0197 a0001c0001t0001g0220 a0001c0001t0002g0319 a0001c0001t0001g0197 a0001c0001t0001g0220 a0001c0001t0002g0319	3	133	0.0226	24	c.219 others(43): Show c.2194-1922_2194-1899dupATATATATATATATATATATATAT	CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	9/13			chr6	TogoVar
CALB2_chr16_71353723_71395433	71356943	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0217 a0002c0002t0004g0217	1	31	0.0323	24	c.-18 others(35): Show c.-1850_-1849insTTTTTTTTTTTTTTTTTTTTTTTT	CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding		1779		chr16	TogoVar
CALB2_chr16_71353723_71395433	71366022	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	206	0.0049	24	c.95- others(39): Show c.95-6130_95-6129insTTTTTTTTTTTTTTTTTTTTTTTT	CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALB2_chr16_71353723_71395433	71366024	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02970.hp2 HG03540.hp2 others(1): Show HG02818.hp1 HG02970.hp2 HG03540.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0006 a0001c0001t0003g0215 a0002c0002t0001g0207 a0001c0001t0003g0006 a0001c0001t0003g0215 a0002c0002t0001g0207	4	141	0.0284	24	c.95- others(39): Show c.95-6109_95-6108insTTTTTTTTTTTTTTTTTTTTTTTT	CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALB2_chr16_71353723_71395433	71382155	A A	AGAAGGAA others(17): Show AGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03209.hp2 HG02922.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0211 a0001c0001t0003g0070 a0001c0001t0003g0211	2	219	0.0091	24	c.343 others(39): Show c.343-561_343-560insGGAAGGAAGGAAGGAAGGAAGGAA	CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18999.hp2 HG00738.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0275 a0001c0001t0002g0002 a0001c0001t0002g0275	2	34	0.0588	24	c.912 others(41): Show c.912+1385_912+1386insATATATATATATATATATATATTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0027 a0002c0003t0001g0027	1	33	0.0303	24	c.912 others(41): Show c.912+1385_912+1386insATATATATATATATATATATTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar

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