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
CAMK4_chr5_111219384_111499886	111469172	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0043 a0001c0002t0005g0043	1	185	0.0054	15	c.626 others(32): Show c.626-4138_626-4137insAAAAATATATATATA	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111480249	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0132 a0001c0001t0132	a0001c0001t0132g0057 a0001c0001t0132g0057	1	50	0.0200	15	c.828 others(32): Show c.828+1742_828+1743insCACACACACACACAC	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	9/10			chr5	TogoVar
CAMKK2_chr12_121232692_121301709	121264776	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0004 a0001c0011t0006g0004	1	146	0.0068	15	c.626 others(30): Show c.626-852_626-838dupATTATTATTATTATT	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	5/16			chr12	TogoVar
CAMKMT_chr2_44356947_44777592	44366718	G G	GTTATTAT others(8): Show GTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	136	0.0074	15	c.138 others(32): Show c.138+4579_138+4593dupATTATTATTATTATT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44580243	A A	AAAAATAA others(8): Show AAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00438.hp2 others(50): Show HG00280.hp1 HG00423.hp1 HG00438.hp2 HG00621.hp1 HG00733.hp1 HG00741.hp2 HG01081.hp1 HG01099.hp1 HG01192.hp1 HG01192.hp2 HG01258.hp1 HG01258.hp2 HG01934.hp1 HG01975.hp1 HG02004.hp1 HG02055.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02717.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03704.hp2 HG03831.hp2 HG03927.hp2 NA18612.hp2 NA18945.hp2 NA18946.hp1 NA18952.hp2 NA18960.hp2 NA18974.hp1 NA18975.hp1 NA18984.hp1 NA18993.hp2 NA18999.hp2 NA19007.hp2 NA19012.hp2 NA19054.hp1 NA19060.hp2 NA19063.hp2 NA19074.hp1 NA19084.hp1 NA19090.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0001	a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0038 others(50): Show a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0002g0023 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0002g0099 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0173 a0001c0001t0002g0181 a0001c0001t0003g0034 a0001c0004t0001g0063	53	148	0.3581	15	c.377 others(36): Show c.377-124031_377-124017dupATAAAATAAAATAAA	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(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02451.hp1 others(3): Show HG01884.hp2 HG01891.hp1 HG02451.hp1 HG02970.hp1 HG03139.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0160 others(3): Show a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0168	6	46	0.1304	15	c.377 others(34): Show c.377-89337_377-89323dupTTTTTTTTTTTTTTT	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(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	138	0.0072	15	c.377 others(34): Show c.377-37668_377-37654dupTTTTTTTTTTTTTTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMSAP1_chr9_135803487_135912546	135892848	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp2 HG01258.hp1 others(4): Show HG00738.hp2 HG01081.hp2 HG01258.hp1 HG01496.hp2 HG03540.hp1 HG03654.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0020 a0001c0001 a0001c0007 a0001c0020	a0001c0001t0001 a0001c0007t0001 a0001c0020t0001 a0001c0001t0001 a0001c0007t0001 a0001c0020t0001	a0001c0001t0001g0047 a0001c0001t0001g0273 a0001c0001t0001g0274 others(4): Show a0001c0001t0001g0047 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0007t0001g0134 a0001c0020t0001g0096	7	87	0.0805	15	c.161 others(32): Show c.161-9785_161-9771dupTTTTTTTTTTTTTTT	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	1/16			chr9	TogoVar
CAMSAP2_chr1_200733893_200865704	200736164	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 NA21309.hp1 HG01433.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0185 a0001c0001t0004g0016 a0001c0001t0002g0185 a0001c0001t0004g0016	2	56	0.0357	15	c.-36 others(26): Show c.-3664_-3663insTTTTTTTTTTTTTTT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding		2728		chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200738940	A A	AGCGGCGG others(8): Show AGCGGCGGCGGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01978.hp2 HG02004.hp1 HG01978.hp2 HG02004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0119 a0001c0002t0011g0121 a0001c0002t0011g0119 a0001c0002t0011g0121	2	242	0.0083	15	c.-88 others(24): Show c.-885_-871dupGGCGGCGGCGGCGGC	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	1/17	870	INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200827680	T T	TTATTTTT others(8): Show TTATTTTTCTAAATAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0113 a0001c0002t0002g0113	1	364	0.0027	15	c.646 others(32): Show c.646-4511_646-4510insAAATAATATTTTTCT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP3_chr19_7590863_7623304	7601711	C C	CTAAAATA others(8): Show CTAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00558.hp2 others(23): Show HG00140.hp1 HG00438.hp2 HG00558.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01192.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02970.hp1 HG03139.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 NA19030.hp1 NA19240.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0003c0008 a0007c0016	a0001c0001t0001 a0001c0002t0001 a0001c0005t0003 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0003 a0001c0009t0001 a0003c0008t0001 a0007c0016t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 others(22): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0068 a0001c0001t0001g0097 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0168 a0001c0002t0001g0205 a0001c0005t0003g0011 a0001c0005t0003g0069 a0001c0005t0003g0070 a0001c0009t0001g0031 a0003c0008t0001g0200 a0003c0008t0001g0201 a0003c0008t0001g0202 a0007c0016t0001g0171	26	242	0.1074	15	c.149 others(32): Show c.149-3485_149-3471dupATAAAATAAAATAAA	CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAMSAP3_chr19_7590863_7623304	7614259	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01192.hp2 HG02004.hp1 others(4): Show HG00140.hp1 HG01192.hp2 HG02004.hp1 HG02615.hp2 HG02818.hp1 NA18906.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0166 a0001c0002t0001g0038 a0001c0002t0001g0041 others(4): Show a0001c0001t0001g0166 a0001c0002t0001g0038 a0001c0002t0001g0041 a0001c0002t0001g0080 a0001c0002t0001g0168 a0001c0002t0001g0205 a0001c0002t0001g0295	7	205	0.0341	15	c.267 others(32): Show c.2671-914_2671-900dupAAAAAAAAAAAAAAA	CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAMTA1_chr1_6780454_7774706	6880383	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	23	0.0435	15	c.234 others(34): Show c.234+55183_234+55197dupTTTTTTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	6963270	G G	GCCCCCCC others(8): Show GCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0012 a0001c0003t0001g0012	1	46	0.0217	15	c.235 others(36): Show c.235-128034_235-128033insCCCCCCCCCCCCCCC	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22			chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7089532	C C	CCCCATCC others(8): Show CCCCATCCCATCCCAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0009 a0006c0013t0009	a0006c0013t0009g0033 a0006c0013t0009g0033	1	18	0.0556	15	c.235 others(32): Show c.235-1729_235-1715dupCATCCCATCCCATCC	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7284126	G G	GTTCTTCT others(8): Show GTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0044 a0001c0005t0005g0044	1	33	0.0303	15	c.438 others(34): Show c.438+34539_438+34553dupCTTCTTCTTCTTCTT	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(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA20300.hp1 HG02630.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0034 a0001c0002t0001g0020 a0001c0001t0004g0034 a0001c0002t0001g0020	2	46	0.0435	15	c.438 others(34): Show c.438+60976_438+60977insCTTTCTTTCTTTCTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7517486	T T	TACTAAAT others(8): Show TACTAAATGTTAGCTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0008 a0001c0002t0006g0008	1	58	0.0172	15	c.510 others(34): Show c.510+49586_510+49600dupACTAAATGTTAGCTC	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7579552	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0055 a0001c0006t0001g0055	1	31	0.0323	15	c.511 others(34): Show c.511-60837_511-60823dupTTTTTTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7602020	G G	GGAGGGAG others(8): Show GGAGGGAGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02723.hp2 others(3): Show HG02257.hp1 HG02451.hp1 HG02723.hp2 HG03225.hp1 HG03486.hp2 NA19043.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0005c0007	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0002t0003 a0001c0006t0005 a0005c0007t0014	a0001c0001t0002g0001 a0001c0001t0005g0038 a0001c0001t0011g0058 others(3): Show a0001c0001t0002g0001 a0001c0001t0005g0038 a0001c0001t0011g0058 a0001c0002t0003g0025 a0001c0006t0005g0057 a0005c0007t0014g0018	6	48	0.1250	15	c.511 others(34): Show c.511-38351_511-38337dupGAGAGGGAGAGGAGG	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(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02523.hp1 HG02132.hp1 HG02523.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0012 a0001c0003t0001g0004 a0001c0003t0001g0012	2	36	0.0556	15	c.291 others(36): Show c.2914+10281_2914+10295dupTTTTTTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7709442	T T	TCCAAATG others(8): Show TCCAAATGATTTCCCG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp2 NA20300.hp1 HG02257.hp1 HG02451.hp2 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0001c0015 a0005c0007 a0001c0002 a0001c0015 a0005c0007	a0001c0002t0001 a0001c0015t0006 a0005c0007t0014 a0001c0002t0001 a0001c0015t0006 a0005c0007t0014	a0001c0002t0001g0020 a0001c0015t0006g0043 a0005c0007t0014g0018 a0001c0002t0001g0020 a0001c0015t0006g0043 a0005c0007t0014g0018	3	58	0.0517	15	c.291 others(36): Show c.2915-22992_2915-22991insGCCAAATGATTTCCC	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(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp1 HG01175.hp2 others(14): Show HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01884.hp2 HG01981.hp2 HG02056.hp1 HG02132.hp2 HG02647.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp1 NA18954.hp2 NA18956.hp2 NA18962.hp2 NA18970.hp2 NA18971.hp2 NA19088.hp2	a0001 a0007 a0001 a0007	a0001c0005 a0007c0009 a0007c0036 a0001c0005 a0007c0009 a0007c0036	a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 others(3): Show a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0004 a0007c0009t0001 a0007c0036t0001	a0001c0005t0001g0056 a0001c0005t0001g0159 a0001c0005t0001g0165 others(14): Show a0001c0005t0001g0056 a0001c0005t0001g0159 a0001c0005t0001g0165 a0001c0005t0001g0217 a0001c0005t0001g0224 a0001c0005t0001g0238 a0001c0005t0002g0209 a0001c0005t0002g0239 a0001c0005t0003g0223 a0001c0005t0004g0212 a0007c0009t0001g0215 a0007c0009t0001g0216 a0007c0009t0001g0219 a0007c0009t0001g0220 a0007c0009t0001g0221 a0007c0009t0001g0222 a0007c0036t0001g0228	17	193	0.0881	15	c.758 others(30): Show c.758-764_758-750dupTTTTTTTTTTTTTTT	CAND2	ENSG00000144712.13	transcript	ENST00000456430.6	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CANT1_chr17_78986716_79014764	79004097	G G	GGAGGGGA others(8): Show GGAGGGGAGTTAGGGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02015.hp1 HG00609.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0002 a0001c0002t0002 a0001c0003t0002	a0001c0002t0002g0009 a0001c0003t0002g0025 a0001c0002t0002g0009 a0001c0003t0002g0025	2	380	0.0053	15	c.-14 others(34): Show c.-147+5552_-147+5566dupTCCCTAACTCCCCTC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004156	T T	TGTTAGGG others(8): Show TGTTAGGGAGAGGGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02965.hp2 HG06807.hp2 others(1): Show HG01243.hp1 HG02965.hp2 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0043 a0001c0002t0005g0152 a0001c0002t0005g0154 a0001c0002t0005g0043 a0001c0002t0005g0152 a0001c0002t0005g0154	4	385	0.0104	15	c.-14 others(34): Show c.-147+5493_-147+5507dupCCCCCTCTCCCTAAC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004330	G G	GGTTAGGG others(8): Show GGTTAGGGAGAAGGGA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0153 a0001c0002t0005g0153	1	353	0.0028	15	c.-14 others(34): Show c.-147+5333_-147+5334insTCCCTTCTCCCTAAC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004502	A A	AGTTAGGG others(8): Show AGTTAGGGAGAGGGGG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0114 a0001c0002t0007g0114	1	342	0.0029	15	c.-14 others(34): Show c.-147+5147_-147+5161dupCCCCCTCTCCCTAAC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004555	A A	AGGGGAGT others(8): Show AGGGGAGTTAGGGAGG	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	387	0.0026	15	c.-14 others(34): Show c.-147+5094_-147+5108dupCCTCCCTAACTCCCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004574	G G	GAGCTAGG others(8): Show GAGCTAGGGAGAGGAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03927.hp2 HG03669.hp1 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0030 a0001c0003t0002g0030	2	386	0.0052	15	c.-14 others(34): Show c.-147+5089_-147+5090insGTCCTCTCCCTAGCT	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004599	G G	GGGGGGTT others(8): Show GGGGGGTTAGGGAGAA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0111 a0001c0002t0005g0111	1	380	0.0026	15	c.-14 others(34): Show c.-147+5064_-147+5065insTTCTCCCTAACCCCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004745	A A	AGTTAGGG others(8): Show AGTTAGGGAGAGGGGG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0111 a0001c0002t0005g0111	1	379	0.0026	15	c.-14 others(34): Show c.-147+4918_-147+4919insCCCCCTCTCCCTAAC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004895	G G	GGAGGGGA others(8): Show GGAGGGGAGTTAGGGA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02083.hp2 HG02129.hp1 others(14): Show HG01361.hp1 HG02083.hp2 HG02129.hp1 HG02257.hp2 HG02486.hp1 HG02559.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02896.hp1 HG03139.hp2 HG03486.hp1 HG03540.hp1 NA18522.hp2 NA18941.hp2 NA19043.hp2 NA19054.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0002t0002 a0001c0002t0007 others(4): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0009 a0001c0003t0002 a0001c0005t0002 a0002c0004t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0097 others(9): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0097 a0001c0001t0001g0106 a0001c0001t0001g0140 a0001c0002t0002g0033 a0001c0002t0007g0099 a0001c0002t0009g0198 a0001c0003t0002g0064 a0001c0005t0002g0107 a0001c0005t0002g0108 a0002c0004t0001g0021	17	381	0.0446	15	c.-14 others(34): Show c.-147+4754_-147+4768dupTCCCTAACTCCCCTC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004943	A A	AGCTAGGG others(8): Show AGCTAGGGAGAGGGGG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0169 a0001c0002t0003g0169	1	312	0.0032	15	c.-14 others(34): Show c.-147+4720_-147+4721insCCCCCTCTCCCTAGC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004975	T T	TTAGGGAG others(8): Show TTAGGGAGAGGGGAGC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0156 a0001c0003t0002g0156	1	377	0.0027	15	c.-14 others(34): Show c.-147+4688_-147+4689insGCTCCCCTCTCCCTA	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79005003	A A	AGTTAGGG others(8): Show AGTTAGGGAGAGGGAG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0214 a0001c0001t0004g0214	1	352	0.0028	15	c.-14 others(34): Show c.-147+4660_-147+4661insCTCCCTCTCCCTAAC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79005134	A A	AGCTAGGG others(8): Show AGCTAGGGAGAGGGGG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03041.hp2 HG01123.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0201 a0001c0002t0011g0217 a0001c0002t0011g0201 a0001c0002t0011g0217	2	392	0.0051	15	c.-14 others(34): Show c.-147+4529_-147+4530insCCCCCTCTCCCTAGC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79005186	A A	AGGGAGTT others(8): Show AGGGAGTTAGGGAGAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0193 a0001c0002t0003g0193	1	392	0.0026	15	c.-14 others(34): Show c.-147+4463_-147+4477dupCTCTCCCTAACTCCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79005216	A A	AGGGAGTT others(8): Show AGGGAGTTAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18946.hp2 NA19005.hp2 others(1): Show HG00673.hp2 NA18946.hp2 NA19005.hp2 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0222 a0001c0002t0008g0223 a0001c0002t0008g0224 others(1): Show a0001c0002t0008g0222 a0001c0002t0008g0223 a0001c0002t0008g0224 a0001c0002t0008g0227	4	390	0.0103	15	c.-14 others(34): Show c.-147+4433_-147+4447dupCCCTCCCTAACTCCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79010493	A A	AAGGCCTG others(8): Show AAGGCCTGGTGGCGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	392	0.0026	15	c.-97 others(24): Show c.-977_-976insCACGCCACCAGGCCT	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding		730		chr17	TogoVar
CANX_chr5_179693967_179736641	179710707	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG01071.hp2 others(13): Show HG00099.hp2 HG00140.hp1 HG01071.hp2 HG01109.hp2 HG01358.hp1 HG01517.hp2 HG02145.hp2 HG02258.hp2 HG02572.hp1 HG02818.hp1 HG02970.hp2 HG03516.hp1 HG03540.hp1 HG03704.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0017	a0001c0001t0001g0136 a0001c0001t0001g0146 a0001c0001t0001g0154 others(12): Show a0001c0001t0001g0136 a0001c0001t0001g0146 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0005g0229 a0001c0001t0005g0231 a0001c0001t0007g0014 a0001c0001t0007g0305 a0001c0001t0007g0316 a0001c0001t0007g0317 a0001c0001t0007g0319 a0001c0001t0017g0014	16	121	0.1322	15	c.721 others(30): Show c.721+644_721+658dupAAAAAAAAAAAAAAA	CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAP1_chr1_40035729_40077648	40049178	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02135.hp2 HG02257.hp1 others(3): Show HG01175.hp2 HG02135.hp2 HG02257.hp1 HG02300.hp2 NA18949.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0021 a0001c0001t0003 a0001c0001t0018 a0001c0001t0021	a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 others(3): Show a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0232 a0001c0001t0018g0225 a0001c0001t0021g0184	6	64	0.0938	15	c.-11 others(32): Show c.-11+8389_-11+8403dupTTTTTTTTTTTTTTT	CAP1	ENSG00000131236.18	transcript	ENST00000372805.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAP2_chr6_17388595_17562780	17406398	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0051 a0001c0008t0001g0051	1	148	0.0068	15	c.-2+ others(32): Show c.-2+12653_-2+12667dupTTTTTTTTTTTTTTT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17461992	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp2 HG02145.hp1 others(7): Show HG01243.hp2 HG02109.hp2 HG02145.hp1 HG03017.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18998.hp1 NA19068.hp1 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0005 others(1): Show a0001c0001 a0001c0002 a0002c0005 a0003c0007	a0001c0001t0002 a0001c0002t0001 a0002c0005t0001 others(1): Show a0001c0001t0002 a0001c0002t0001 a0002c0005t0001 a0003c0007t0001	a0001c0001t0002g0126 a0001c0001t0002g0163 a0001c0001t0002g0175 others(7): Show a0001c0001t0002g0126 a0001c0001t0002g0163 a0001c0001t0002g0175 a0001c0001t0002g0181 a0001c0002t0001g0062 a0001c0002t0001g0098 a0001c0002t0001g0101 a0001c0002t0001g0193 a0002c0005t0001g0104 a0003c0007t0001g0119	10	50	0.2000	15	c.223 others(30): Show c.223-987_223-973dupAAAAAAAAAAAAAAA	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN12_chr19_38725192_38749474	38728410	G G	GCTCCTCC others(8): Show GCTCCTCCTCCTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 NA18995.hp1 NA19063.hp2 HG01099.hp2 NA18995.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0099 a0001c0001t0001g0113 a0001c0001t0001g0117	3	193	0.0155	15	c.24 others(26): Show c.2427_*2441dupGAGGAGGAGGAGGAG	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding		1781		chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735678	G G	GGGGTTCT others(8): Show GGGGTTCTCGCGGGGC	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0138 a0001c0001t0016g0138	1	339	0.0029	15	c.158 others(32): Show c.1584-135_1584-134insGCCCCGCGAGAACCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735687	G G	GGGGGCGG others(8): Show GGGGGCGGGGCGGGGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG01109.hp1 others(6): Show HG00639.hp1 HG01074.hp2 HG01109.hp1 HG01169.hp2 HG02451.hp1 HG02723.hp2 HG02976.hp2 NA18947.hp1 NA18982.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0004 a0005c0007 a0001c0001 a0002c0004 a0005c0007	a0001c0001t0006 a0002c0004t0001 a0005c0007t0003 a0001c0001t0006 a0002c0004t0001 a0005c0007t0003	a0001c0001t0006g0241 a0002c0004t0001g0050 a0002c0004t0001g0056 others(6): Show a0001c0001t0006g0241 a0002c0004t0001g0050 a0002c0004t0001g0056 a0002c0004t0001g0057 a0002c0004t0001g0067 a0002c0004t0001g0073 a0002c0004t0001g0074 a0005c0007t0003g0253 a0005c0007t0003g0257	9	302	0.0298	15	c.158 others(32): Show c.1584-144_1584-143insGCCCCGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735767	G G	GCGGGCGG others(8): Show GCGGGCGGGGCGGGGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0287 a0001c0001t0005g0287	1	269	0.0037	15	c.158 others(32): Show c.1584-224_1584-223insGCCCCGCCCCGCCCG	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735772	C C	CAGGGCGG others(8): Show CAGGGCGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG03491.hp1 HG01515.hp2 HG01517.hp2 HG03491.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0022 a0003c0005t0004g0038 a0003c0005t0004g0041 a0003c0005t0004g0022 a0003c0005t0004g0038 a0003c0005t0004g0041	3	324	0.0093	15	c.158 others(32): Show c.1584-229_1584-228insCAGAACCCCCGCCCT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735772	C C	CGGGGCGG others(8): Show CGGGGCGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp1 HG01106.hp2 others(1): Show HG00735.hp2 HG01081.hp1 HG01106.hp2 HG03490.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0018 a0002c0004t0001 a0002c0004t0018	a0002c0004t0001g0049 a0002c0004t0001g0063 a0002c0004t0001g0070 others(1): Show a0002c0004t0001g0049 a0002c0004t0001g0063 a0002c0004t0001g0070 a0002c0004t0018g0071	4	325	0.0123	15	c.158 others(32): Show c.1584-229_1584-228insCAGAACCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar

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