Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CAMK1D_chr10_12344547_12840545	12620186	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0189 a0001c0001t0005g0189	1	19	0.0526	11	c.225 others(30): Show c.225-46528_225-46518dupAAAAAAAAAAA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12672896	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02717.hp1 HG00735.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0039 a0001c0001t0002 a0001c0001t0039	a0001c0001t0002g0171 a0001c0001t0039g0018 a0001c0001t0002g0171 a0001c0001t0039g0018	2	113	0.0177	11	c.299 others(28): Show c.299+6095_299+6105dupTTTTTTTTTTT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12674599	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02280.hp1 HG02896.hp1 others(16): Show HG01069.hp2 HG02280.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03130.hp1 HG03195.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG04184.hp2 NA18948.hp2 NA18954.hp2 NA18990.hp2 NA18999.hp1 NA19057.hp1 NA19091.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0001t0018 others(14): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0018 a0001c0001t0026 a0001c0001t0036 a0001c0001t0039 a0001c0001t0043 a0001c0001t0062 a0001c0001t0086 a0001c0001t0089 a0001c0001t0112 a0001c0002t0010 a0001c0002t0015 a0001c0002t0021 a0001c0002t0023 a0001c0002t0027 a0001c0002t0051	a0001c0001t0001g0015 a0001c0001t0001g0071 a0001c0001t0011g0017 others(16): Show a0001c0001t0001g0015 a0001c0001t0001g0071 a0001c0001t0011g0017 a0001c0001t0018g0013 a0001c0001t0026g0143 a0001c0001t0036g0022 a0001c0001t0039g0157 a0001c0001t0043g0026 a0001c0001t0062g0144 a0001c0001t0086g0181 a0001c0001t0089g0035 a0001c0001t0112g0038 a0001c0002t0010g0079 a0001c0002t0015g0069 a0001c0002t0021g0023 a0001c0002t0023g0102 a0001c0002t0023g0103 a0001c0002t0027g0036 a0001c0002t0051g0178	19	61	0.3115	11	c.299 others(28): Show c.299+7797_299+7807dupTTTTTTTTTTT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12717731	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp2 HG02559.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0102 a0001c0002t0068 a0001c0001t0102 a0001c0002t0068	a0001c0001t0102g0010 a0001c0002t0068g0021 a0001c0001t0102g0010 a0001c0002t0068g0021	2	28	0.0714	11	c.300 others(30): Show c.300-43211_300-43201dupAAAAAAAAAAA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12764381	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02040.hp2 HG02809.hp2 others(1): Show HG01256.hp2 HG02040.hp2 HG02809.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0033 a0001c0001t0034 a0001c0001t0088 others(1): Show a0001c0001t0033 a0001c0001t0034 a0001c0001t0088 a0001c0002t0065	a0001c0001t0033g0186 a0001c0001t0034g0202 a0001c0001t0088g0087 others(1): Show a0001c0001t0033g0186 a0001c0001t0034g0202 a0001c0001t0088g0087 a0001c0002t0065g0140	4	18	0.2222	11	c.438 others(28): Show c.438+3302_438+3312dupAAAAAAAAAAA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12810151	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00642.hp1 others(29): Show HG00099.hp2 HG00280.hp2 HG00642.hp1 HG01099.hp1 HG01106.hp1 HG01168.hp1 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01928.hp1 HG01928.hp2 HG02080.hp1 HG02083.hp1 HG02132.hp2 HG02622.hp1 HG03491.hp2 HG03669.hp2 HG03831.hp1 HG03927.hp1 HG06807.hp1 NA18942.hp1 NA18953.hp1 NA18955.hp2 NA18959.hp1 NA18971.hp1 NA18974.hp1 NA19012.hp2 NA19030.hp2 NA19056.hp1 NA19057.hp2 NA19091.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0028 a0001c0001t0031 a0001c0001t0038 a0001c0001t0041 a0001c0001t0050 a0001c0001t0056 a0001c0001t0079 a0001c0001t0081 a0001c0001t0082 a0001c0001t0091 a0001c0001t0097 a0001c0001t0099 a0001c0001t0101 a0001c0002t0021	a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0071 others(29): Show a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0095 a0001c0001t0001g0175 a0001c0001t0001g0191 a0001c0001t0002g0196 a0001c0001t0003g0012 a0001c0001t0003g0195 a0001c0001t0006g0075 a0001c0001t0006g0177 a0001c0001t0012g0173 a0001c0001t0014g0211 a0001c0001t0014g0212 a0001c0001t0017g0198 a0001c0001t0018g0013 a0001c0001t0018g0190 a0001c0001t0028g0099 a0001c0001t0031g0168 a0001c0001t0031g0169 a0001c0001t0038g0174 a0001c0001t0041g0080 a0001c0001t0050g0027 a0001c0001t0056g0154 a0001c0001t0079g0151 a0001c0001t0081g0096 a0001c0001t0082g0067 a0001c0001t0091g0030 a0001c0001t0097g0065 a0001c0001t0099g0043 a0001c0001t0101g0156 a0001c0002t0021g0048	32	110	0.2909	11	c.642 others(28): Show c.642-4037_642-4027dupAAAAAAAAAAA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK2B_chr7_44212154_44330594	44328188	C C	CTTTCGAG others(4): Show CTTTCGAGAGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0102 a0001c0004t0003g0102	1	240	0.0042	11	c.-27 others(22): Show c.-2768_-2767insCACTCTCGAAA	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding		2595		chr7	TogoVar
CAMK2D_chr4_113446032_113766738	113603773	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0005 a0001c0001t0038g0005	1	63	0.0159	11	c.275 others(28): Show c.275+5378_275+5379insTATATATATAT	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	4/20			chr4	TogoVar
CAMK2D_chr4_113446032_113766738	113713524	T T	TATATAGT others(4): Show TATATAGTATTA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0045 a0001c0005t0004g0045	1	276	0.0036	11	c.160 others(30): Show c.160+45795_160+45796insTAATACTATAT	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	2/20			chr4	TogoVar
CAMK2G_chr10_73807501_73879555	73820492	A A	ATATATTT others(4): Show ATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	196	0.0051	11	c.125 others(28): Show c.1250-848_1250-847insAAAAAAATATA	CAMK2G	ENSG00000148660.22	transcript	ENST00000423381.6	protein_coding	18/22			chr10	TogoVar
CAMK2G_chr10_73807501_73879555	73820493	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	204	0.0049	11	c.125 others(28): Show c.1250-849_1250-848insTATATATATAT	CAMK2G	ENSG00000148660.22	transcript	ENST00000423381.6	protein_coding	18/22			chr10	TogoVar
CAMK2G_chr10_73807501_73879555	73820663	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02622.hp2 HG02723.hp1 others(9): Show HG01243.hp1 HG02622.hp2 HG02723.hp1 HG03041.hp1 HG03239.hp1 HG03834.hp1 HG04115.hp1 NA18906.hp1 NA18945.hp1 NA18997.hp2 NA19056.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0096 a0001c0001t0002g0097 others(9): Show a0001c0001t0002g0071 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0259	12	73	0.1644	11	c.124 others(30): Show c.1249+1008_1249+1018dupAAAAAAAAAAA	CAMK2G	ENSG00000148660.22	transcript	ENST00000423381.6	protein_coding	18/22			chr10	TogoVar
CAMK2N2_chr3_184254213_184266553	184256272	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00544.hp1 others(58): Show HG00280.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG01069.hp2 HG01168.hp2 HG01255.hp1 HG01255.hp2 HG01884.hp2 HG01952.hp1 HG02015.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02451.hp2 HG02615.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03540.hp1 HG03579.hp1 NA18940.hp1 NA18947.hp2 NA18957.hp2 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18969.hp2 NA18982.hp2 NA18991.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19007.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19060.hp2 NA19065.hp2 NA19070.hp1 NA19076.hp1 NA19078.hp1 NA19082.hp1 NA19085.hp1 NA19090.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0003g0004 a0001c0001t0003g0015 a0001c0001t0005g0008 a0001c0001t0005g0034 a0001c0001t0007g0016 a0001c0001t0007g0017 a0001c0001t0008g0023 a0001c0001t0008g0026 a0001c0001t0012g0028 a0001c0001t0013g0025 a0001c0001t0017g0033 a0001c0001t0018g0035	61	297	0.2054	11	c.38 others(22): Show c.3874_*3884dupTTTTTTTTTTT	CAMK2N2	ENSG00000163888.4	transcript	ENST00000296238.4	protein_coding		2940		chr3	TogoVar
CAMK2N2_chr3_184254213_184266553	184256272	C C	CAGAAAAA others(4): Show CAGAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG03471.hp2 HG02451.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	2	238	0.0084	11	c.38 others(22): Show c.3884_*3885insTTTTTTTTTCT	CAMK2N2	ENSG00000163888.4	transcript	ENST00000296238.4	protein_coding		2940		chr3	TogoVar
CAMK2N2_chr3_184254213_184266553	184263686	A A	AGAGAGAG others(4): Show AGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG03491.hp1 HG00544.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0005g0034 a0001c0001t0001g0001 a0001c0001t0005g0034	2	373	0.0054	11	c.-24 others(22): Show c.-2402_-2401insCTCTCTCTCTC	CAMK2N2	ENSG00000163888.4	transcript	ENST00000296238.4	protein_coding		2134		chr3	TogoVar
CAMK4_chr5_111219384_111499886	111396631	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02622.hp1 HG02738.hp1 others(1): Show HG01106.hp2 HG02622.hp1 HG02738.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0002g0014 a0001c0001t0002g0197 a0001c0001t0003g0212 others(1): Show a0001c0001t0002g0014 a0001c0001t0002g0197 a0001c0001t0003g0212 a0001c0001t0007g0155	4	17	0.2353	11	c.459 others(28): Show c.459+1866_459+1876dupTTTTTTTTTTT	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111469172	A A	AAATATAT others(4): Show AAATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0131 a0001c0001t0037g0131	1	185	0.0054	11	c.626 others(28): Show c.626-4138_626-4137insATATATATATA	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111480289	C C	CACACACA others(4): Show CACACACACACA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0209 a0001c0001t0011g0209	1	242	0.0041	11	c.828 others(28): Show c.828+1782_828+1783insACACACACACA	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	9/10			chr5	TogoVar
CAMKK1_chr17_3855315_3898053	3896353	G G	GATTCGAT others(4): Show GATTCGATGCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0047 a0001c0002t0002g0047	1	444	0.0023	11	c.-34 others(22): Show c.-3459_-3458insAAGCATCGAAT	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding		3301		chr17	TogoVar
CAMKMT_chr2_44356947_44777592	44589883	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01081.hp1 HG01258.hp1 others(20): Show HG00280.hp1 HG01081.hp1 HG01258.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG02602.hp2 HG02698.hp2 HG02717.hp2 HG02886.hp1 HG03239.hp2 HG03492.hp2 NA18612.hp2 NA18945.hp2 NA18952.hp2 NA18960.hp2 NA18975.hp1 NA18984.hp1 NA18993.hp2 NA18999.hp2 NA19007.hp2 NA19012.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0001t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0048 others(20): Show a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0110 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0002g0099 a0001c0001t0002g0181 a0001c0004t0001g0063	23	97	0.2371	11	c.377 others(32): Show c.377-114398_377-114388dupAAAAAAAAAAA	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44614936	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	41	0.0244	11	c.377 others(30): Show c.377-89333_377-89323dupTTTTTTTTTTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44614953	T T	TTTTTTTT others(4): Show TTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02970.hp2 HG03516.hp2 others(1): Show HG00738.hp1 HG02970.hp2 HG03516.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0002g0044 others(1): Show a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0002g0044 a0001c0001t0002g0045	4	194	0.0206	11	c.377 others(30): Show c.377-89323_377-89322insTTTCTTTTTTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44621266	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	79	0.0127	11	c.377 others(30): Show c.377-83008_377-82998dupAAAAAAAAAAA	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44634800	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	76	0.0132	11	c.377 others(30): Show c.377-69481_377-69471dupAAAAAAAAAAA	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44634800	C C	CAAAAAGA others(4): Show CAAAAAGAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	76	0.0132	11	c.377 others(30): Show c.377-69478_377-69477insGAAAAAAAAAA	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44666612	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01258.hp2 HG02145.hp1 others(2): Show HG00738.hp2 HG01258.hp2 HG02145.hp1 HG02451.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0165 a0001c0001t0002g0017 a0001c0001t0002g0023 others(2): Show a0001c0001t0001g0165 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0113 a0001c0001t0002g0170	5	142	0.0352	11	c.377 others(30): Show c.377-37664_377-37654dupTTTTTTTTTTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44673523	A A	AAGGAAGG others(4): Show AAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	198	0.0051	11	c.377 others(30): Show c.377-30760_377-30759insAGGAAGGAAGG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CAMLG_chr5_134733548_134757157	134755608	A A	AAAAAAAA others(4): Show AAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	192	0.0052	11	c.46 others(22): Show c.4658_*4659insAAAAAAAAAAT	CAMLG	ENSG00000164615.6	transcript	ENST00000297156.4	protein_coding		3452		chr5	TogoVar
CAMLG_chr5_134733548_134757157	134755608	A A	AAAAATAT others(4): Show AAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	192	0.0052	11	c.46 others(22): Show c.4658_*4659insAAAATATATAT	CAMLG	ENSG00000164615.6	transcript	ENST00000297156.4	protein_coding		3452		chr5	TogoVar
CAMLG_chr5_134733548_134757157	134755626	T T	TATATATA others(4): Show TATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	366	0.0027	11	c.46 others(22): Show c.4676_*4677insATATATATATA	CAMLG	ENSG00000164615.6	transcript	ENST00000297156.4	protein_coding		3470		chr5	TogoVar
CAMSAP1_chr9_135803487_135912546	135826193	A A	AGCTTCTT others(4): Show AGCTTCTTGTGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG01081.hp1 others(43): Show HG00099.hp1 HG00741.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01884.hp1 HG02109.hp1 HG02109.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02735.hp1 HG02809.hp2 HG02922.hp2 HG02970.hp2 HG03195.hp1 HG03239.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18960.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0011 others(1): Show a0001c0002 a0001c0008 a0001c0011 a0001c0013	a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 others(6): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0020 a0001c0002t0021 a0001c0002t0031 a0001c0008t0006 a0001c0011t0006 a0001c0013t0003	a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0018 others(43): Show a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0018 a0001c0002t0003g0282 a0001c0002t0003g0283 a0001c0002t0003g0286 a0001c0002t0003g0288 a0001c0002t0003g0289 a0001c0002t0003g0291 a0001c0002t0003g0298 a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0301 a0001c0002t0003g0302 a0001c0002t0003g0303 a0001c0002t0003g0304 a0001c0002t0003g0305 a0001c0002t0004g0003 a0001c0002t0004g0004 a0001c0002t0004g0005 a0001c0002t0004g0006 a0001c0002t0004g0007 a0001c0002t0004g0008 a0001c0002t0004g0009 a0001c0002t0004g0010 a0001c0002t0004g0011 a0001c0002t0004g0012 a0001c0002t0005g0324 a0001c0002t0005g0326 a0001c0002t0005g0327 a0001c0002t0005g0328 a0001c0002t0005g0329 a0001c0002t0005g0330 a0001c0002t0005g0331 a0001c0002t0005g0332 a0001c0002t0020g0306 a0001c0002t0021g0290 a0001c0002t0031g0297 a0001c0008t0006g0292 a0001c0008t0006g0293 a0001c0008t0006g0295 a0001c0011t0006g0117 a0001c0011t0006g0126 a0001c0011t0006g0308 a0001c0013t0003g0284 a0001c0013t0003g0285	46	337	0.1365	11	c.122 others(30): Show c.1223+1213_1223+1214insGCACAAGAAGC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	8/16			chr9	TogoVar
CAMSAP1_chr9_135803487_135912546	135826194	G G	GCTTCTTG others(4): Show GCTTCTTGTGCA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0287 a0001c0002t0003g0287	1	330	0.0030	11	c.122 others(30): Show c.1223+1212_1223+1213insTGCACAAGAAG	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	8/16			chr9	TogoVar
CAMSAP1_chr9_135803487_135912546	135892848	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02922.hp1 HG03516.hp2 others(1): Show HG02280.hp1 HG02922.hp1 HG03516.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0185 others(1): Show a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0185 a0001c0001t0001g0186	4	84	0.0476	11	c.161 others(28): Show c.161-9781_161-9771dupTTTTTTTTTTT	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	1/16			chr9	TogoVar
CAMSAP2_chr1_200733893_200865704	200736164	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG01167.hp1 others(7): Show HG00099.hp1 HG00741.hp1 HG01167.hp1 HG01169.hp1 HG02109.hp1 HG02258.hp1 HG03195.hp1 HG03540.hp2 NA18906.hp1 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0004 a0001c0001t0004 a0002c0003t0004	a0001c0001t0004g0012 a0001c0001t0004g0015 a0001c0001t0004g0017 others(7): Show a0001c0001t0004g0012 a0001c0001t0004g0015 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0357 a0002c0003t0004g0001	10	64	0.1563	11	c.-36 others(22): Show c.-3664_-3663insTTTTTTTTTTT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding		2728		chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200786957	G G	GCACATCT others(4): Show GCACATCTATTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	364	0.0027	11	c.400 others(30): Show c.400-20418_400-20408dupCACATCTATTT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP3_chr19_7590863_7623304	7605163	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	355	0.0028	11	c.149 others(24): Show c.149-62_149-52dupGTGTGTGTGTG	CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAMTA1_chr1_6780454_7774706	6995295	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0024 a0001c0016t0024	a0001c0016t0024g0053 a0001c0016t0024g0053	1	17	0.0588	11	c.235 others(30): Show c.235-95995_235-95985dupTTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7013209	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	20	0.0500	11	c.235 others(30): Show c.235-78082_235-78072dupTTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7214397	C C	CACTCTGT others(4): Show CACTCTGTCGAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02922.hp1 HG03130.hp1 others(3): Show HG01243.hp1 HG02922.hp1 HG03130.hp1 HG03453.hp2 HG03486.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0002 a0001c0002t0010 a0001c0003t0008 others(1): Show a0001c0001t0002 a0001c0002t0010 a0001c0003t0008 a0001c0006t0005	a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0046 others(3): Show a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0046 a0001c0002t0010g0010 a0001c0003t0008g0032 a0001c0006t0005g0057	6	58	0.1034	11	c.303 others(30): Show c.303-35086_303-35085insGAAACTCTGTC	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7276303	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0010 a0001c0002t0010g0010	1	13	0.0769	11	c.438 others(30): Show c.438+26678_438+26679insATATATATTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7310600	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18999.hp2 HG03704.hp1 NA18999.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0014 a0001c0001 a0007c0014	a0001c0001t0001 a0007c0014t0001 a0001c0001t0001 a0007c0014t0001	a0001c0001t0001g0013 a0007c0014t0001g0041 a0001c0001t0001g0013 a0007c0014t0001g0041	2	46	0.0435	11	c.438 others(30): Show c.438+60976_438+60977insCTTTCTTTCTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7310671	C C	CTCTCTCT others(4): Show CTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0019 a0001c0009t0019	a0001c0009t0019g0039 a0001c0009t0019g0039	1	47	0.0213	11	c.438 others(30): Show c.438+61045_438+61046insTCTCTCTCTCT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22			chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7361010	T T	TGTGGTGT others(4): Show TGTGGTGTTAGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03486.hp1 HG03453.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0026 a0001c0002t0002g0016 a0001c0001t0004g0026 a0001c0002t0002g0016	2	58	0.0345	11	c.439 others(32): Show c.439-106816_439-106815insTGTTAGAGTGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7579552	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02723.hp1 HG01243.hp2 HG02723.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0009 a0001c0005t0005 a0001c0005t0009	a0001c0005t0005g0044 a0001c0005t0009g0050 a0001c0005t0005g0044 a0001c0005t0009g0050	2	32	0.0625	11	c.511 others(30): Show c.511-60833_511-60823dupTTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7602003	G G	GAGGGAGA others(4): Show GAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0049 a0001c0001t0020g0049	1	58	0.0172	11	c.511 others(30): Show c.511-38397_511-38396insAGGGAGAGGGA	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22			chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7636169	T T	TGGGCAGG others(4): Show TGGGCAGGTGCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19043.hp2 HG03041.hp2 NA19043.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0013 a0001c0001 a0006c0013	a0001c0001t0002 a0006c0013t0009 a0001c0001t0002 a0006c0013t0009	a0001c0001t0002g0046 a0006c0013t0009g0033 a0001c0001t0002g0046 a0006c0013t0009g0033	2	58	0.0345	11	c.511 others(28): Show c.511-4230_511-4220dupGGGCAGGTGCC	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7688011	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp1 HG01243.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0002 a0001c0001t0012g0019 a0001c0001t0002g0002 a0001c0001t0012g0019	2	36	0.0556	11	c.291 others(32): Show c.2914+10285_2914+10295dupTTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAND2_chr3_12791680_12839803	12812221	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01168.hp1 HG01257.hp2 HG00639.hp1 HG01168.hp1 HG01257.hp2	a0003 a0004 a0020 a0003 a0004 a0020	a0003c0002 a0004c0003 a0020c0030 a0003c0002 a0004c0003 a0020c0030	a0003c0002t0003 a0004c0003t0001 a0020c0030t0001 a0003c0002t0003 a0004c0003t0001 a0020c0030t0001	a0003c0002t0003g0116 a0004c0003t0001g0108 a0020c0030t0001g0140 a0003c0002t0003g0116 a0004c0003t0001g0108 a0020c0030t0001g0140	3	179	0.0168	11	c.758 others(26): Show c.758-760_758-750dupTTTTTTTTTTT	CAND2	ENSG00000144712.13	transcript	ENST00000456430.6	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CANT1_chr17_78986716_79014764	78987377	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0006 a0001c0003t0002g0006	1	141	0.0071	11	c.61 others(22): Show c.6172_*6173insAAAAAAAAAAA	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding		4338		chr17	TogoVar
CANT1_chr17_78986716_79014764	79004424	A A	AGAGGGGA others(4): Show AGAGGGGAGCTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18941.hp2 NA20129.hp2 HG02055.hp2 NA18941.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0009 a0001c0002t0023 a0001c0001t0004 a0001c0002t0009 a0001c0002t0023	a0001c0001t0004g0214 a0001c0002t0009g0198 a0001c0002t0023g0213 a0001c0001t0004g0214 a0001c0002t0009g0198 a0001c0002t0023g0213	3	385	0.0078	11	c.-14 others(30): Show c.-147+5239_-147+5240insCAGCTCCCCTC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar

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