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
CACFD1_chr9_133454978_133475848	133460463	C C	CGGGGGGG others(36): Show CGGGGGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCGGGGGCG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0079 a0001c0012t0002g0079	1	412	0.0024	43	c.121 others(58): Show c.121+286_121+287insGGGGGCGGCGGGGGCGGGGGGGCGGCGGGG GCGGGGGGGGCGG	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1A_chr19_13201442_13511479	13432676	A A	ATATGTTG others(36): Show ATATGTTGTATTGTTTTTGTATGTAATATGTAATATGTTGTATG	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA20300.hp2 HG03225.hp2 NA20300.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0047 a0001c0016t0001g0076 a0001c0016t0001g0047 a0001c0016t0001g0076	2	216	0.0093	43	c.539 others(62): Show c.539+20199_539+20200insCATACAACATATTACATATTACATAC AAAAACAATACAACATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185756	G G	GGCATGTG others(36): Show GGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0041	1	305	0.0033	43	c.300 others(60): Show c.300-9215_300-9214insCATGTGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG2_chr22_36555857_36708752	36703760	G G	GCTCGCTC others(36): Show GCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01516.hp2 HG01346.hp1 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0069 a0001c0001t0012 a0001c0001t0069	a0001c0001t0012g0173 a0001c0001t0069g0139 a0001c0001t0012g0173 a0001c0001t0069g0139	2	140	0.0143	43	c.-11 others(54): Show c.-1185_-1184insAGAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGCGAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		9		chr22	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0061 a0001c0001t0006g0061	1	173	0.0058	43	c.545 others(58): Show c.545-745_545-744insAAAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02080.hp1 HG01978.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0062 a0001c0001t0006g0076 a0001c0001t0006g0062 a0001c0001t0006g0076	2	174	0.0115	43	c.545 others(58): Show c.545-745_545-744insAAAAAAAAAAAAAAAAAAATATATATATAT ATATATATATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0085 a0001c0001t0007g0085	1	173	0.0058	43	c.545 others(58): Show c.545-745_545-744insAAAAAAAAAAAAAAATATATATATATATAT ATATATATATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CADPS2_chr7_122313411_122891460	122315296	T T	TCTCTCTC others(36): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0039 a0001c0007t0002g0039	1	108	0.0093	43	c.48 others(54): Show c.4868_*4869insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAG	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding		3114		chr7	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0178 a0003c0002t0001g0178	1	33	0.0303	43	c.912 others(60): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATATATATATTTTTT	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(36): Show ATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18966.hp1 HG02056.hp1 NA18966.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0210 a0003c0002t0001g0219 a0003c0002t0001g0210 a0003c0002t0001g0219	2	34	0.0588	43	c.912 others(60): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATATATATTTTTTTT	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(36): Show ATATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03654.hp2 NA18941.hp1 HG02523.hp1 HG03654.hp2 NA18941.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0153 a0003c0002t0001g0187 a0003c0002t0001g0188 a0003c0002t0001g0153 a0003c0002t0001g0187 a0003c0002t0001g0188	3	35	0.0857	43	c.912 others(60): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATATATTTTTTTTTT	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(36): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0177 a0003c0002t0001g0177	1	33	0.0303	43	c.912 others(60): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATATTTTTTTTTTTT	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(36): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0142 a0003c0002t0001g0142	1	33	0.0303	43	c.912 others(60): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTT	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(36): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0232 a0003c0002t0001g0232	1	33	0.0303	43	c.912 others(60): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	14	0.0714	43	c.244 others(60): Show c.244+7110_244+7111insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12387445	T T	TTATATAT others(36): Show TTATATATTTTATATATTATATATATTTTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG01346.hp1 others(8): Show HG00423.hp1 HG00621.hp1 HG01346.hp1 HG02080.hp2 HG02083.hp2 HG02165.hp2 HG03669.hp2 HG04199.hp1 HG04204.hp2 NA18942.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0028 a0001c0001t0046 a0001c0001t0069 a0001c0001t0076 a0001c0001t0077 a0001c0001t0081 a0001c0001t0095 a0001c0002t0067	a0001c0001t0001g0046 a0001c0001t0002g0176 a0001c0001t0006g0073 others(8): Show a0001c0001t0001g0046 a0001c0001t0002g0176 a0001c0001t0006g0073 a0001c0001t0028g0099 a0001c0001t0046g0074 a0001c0001t0069g0044 a0001c0001t0076g0127 a0001c0001t0077g0184 a0001c0001t0081g0096 a0001c0001t0095g0149 a0001c0002t0067g0053	11	81	0.1358	43	c.92+ others(60): Show c.92+37542_92+37543insTTTATATATTATATATATTTTATATATA TATATATATATATAT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12387445	T T	TTATATAT others(36): Show TTATATATTTTATATATTATATATTTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	71	0.0141	43	c.92+ others(60): Show c.92+37542_92+37543insTTTATATATTATATATTTTATATATATA TATATATATATATAT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12693983	A A	ATATACAT others(36): Show ATATACATATAATATATATTATATATAAAATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03490.hp2 HG04204.hp1 HG00735.hp2 HG03490.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0034 a0001c0002t0060 a0001c0001t0002 a0001c0001t0034 a0001c0002t0060	a0001c0001t0002g0171 a0001c0001t0034g0083 a0001c0002t0060g0104 a0001c0001t0002g0171 a0001c0001t0034g0083 a0001c0002t0060g0104	3	205	0.0146	43	c.299 others(62): Show c.299+27177_299+27178insCATATAATATATATTATATATAAAAT ATATAATATATATTATA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMKMT_chr2_44356947_44777592	44410247	A A	AGACTATA others(36): Show AGACTATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	105	0.0095	43	c.376 others(62): Show c.376+19942_376+19943insGACTATATATATATATATATATATAT ATATATATATATATTTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44588281	G G	GCCAGCCG others(36): Show GCCAGCCGCCCCGTCCGGGAGTGGGGGTCAGCCCCCTGCCCGGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00438.hp2 others(67): Show HG00280.hp1 HG00423.hp1 HG00438.hp2 HG00621.hp1 HG00741.hp2 HG01081.hp1 HG01099.hp2 HG01169.hp2 HG01243.hp1 HG01258.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG02004.hp1 HG02109.hp1 HG02145.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03704.hp2 HG03831.hp2 HG03927.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18945.hp2 NA18952.hp2 NA18960.hp2 NA18974.hp1 NA18975.hp1 NA18984.hp1 NA18993.hp2 NA18999.hp2 NA19007.hp2 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19060.hp2 NA19063.hp2 NA19074.hp1 NA19084.hp1 NA19090.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0027 others(67): Show a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0183 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0002g0099 a0001c0001t0002g0112 a0001c0001t0002g0173 a0001c0001t0002g0181 a0001c0002t0001g0053 a0001c0002t0001g0107 a0001c0002t0002g0028 a0001c0004t0001g0063	70	183	0.3825	43	c.377 others(64): Show c.377-116001_377-116000insCAGCCGCCCCGTCCGGGAGTGGGG GTCAGCCCCCTGCCCGGCC	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44588300	G G	GTGGGGGT others(36): Show GTGGGGGTCAGCCCCCTGCCCGGCCAGCCACCCCCGTTCGGGAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	119	0.0084	43	c.377 others(64): Show c.377-115983_377-115982insTGGGGGTCAGCCCCCTGCCCGGCC AGCCACCCCCGTTCGGGAC	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CANT1_chr17_78986716_79014764	79004315	A A	AGTTAGGG others(36): Show AGTTAGGGAGAGGGAGGTTAGGGAGGGGAGTTAGGGAGAGGGGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp1 HG02559.hp2 others(8): Show HG02257.hp2 HG02486.hp1 HG02559.hp2 HG02717.hp1 HG02809.hp1 HG02896.hp1 HG03139.hp2 HG03486.hp1 HG03540.hp1 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0002 a0001c0005t0002 a0001c0001t0001 a0001c0002t0002 a0001c0005t0002	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0106 others(3): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0106 a0001c0002t0002g0033 a0001c0005t0002g0107 a0001c0005t0002g0108	11	385	0.0286	43	c.-14 others(62): Show c.-147+5306_-147+5348dupCCCCCTCTCCCTAACTCCCCTCCCTA ACCTCCCTCTCCCTAAC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004315	A A	AGTTAGGG others(36): Show AGTTAGGGAGATGAGTTAGGGAGAGGGGGGTTAGGGAGAGGGGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0218 a0001c0002t0027g0218	1	375	0.0027	43	c.-14 others(62): Show c.-147+5348_-147+5349insCCCCCTCTCCCTAACCCCCCTCTCCC TAACTCATCTCCCTAAC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004329	A A	AGGTTAGG others(36): Show AGGTTAGGGAGGGGAGTTAGGGAGAGGGGGGTTAGGGAGAGGGG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	328	0.0030	43	c.-14 others(62): Show c.-147+5292_-147+5334dupCCCCTCTCCCTAACCCCCCTCTCCCT AACTCCCCTCCCTAACC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79005213	A A	AGAAGGGA others(36): Show AGAAGGGAGTTAGGGAGGGGGGAGTTAGGGAGAGGGGAGTTAGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp1 HG01071.hp1 others(4): Show HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01175.hp1 HG01361.hp1 NA18941.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0009 a0001c0002t0007 a0001c0002t0009	a0001c0002t0007g0099 a0001c0002t0007g0100 a0001c0002t0007g0101 others(4): Show a0001c0002t0007g0099 a0001c0002t0007g0100 a0001c0002t0007g0101 a0001c0002t0007g0102 a0001c0002t0007g0103 a0001c0002t0009g0197 a0001c0002t0009g0198	7	392	0.0179	43	c.-14 others(62): Show c.-147+4450_-147+4451insCCTAACTCCCCTCTCCCTAACTCCCC CCTCCCTAACTCCCTTC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANX_chr5_179693967_179736641	179710707	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0046 a0002c0002t0003g0046	1	106	0.0094	43	c.721 others(58): Show c.721+658_721+659insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAPN11_chr6_44153820_44189401	44181953	T T	TCACACAC others(36): Show TCACACACACACACATACACACTCACATACAGACACAACCACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	426	0.0023	43	c.193 others(60): Show c.1938+645_1938+646insCATACACACTCACATACAGACACAACCA CACCACACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181955	A A	ACACACAC others(36): Show ACACACACACACACACTCACATACAGACACAACCACACCACACT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	456	0.0022	43	c.193 others(60): Show c.1938+645_1938+646insCACACTCACATACAGACACAACCACACC ACACTCACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182224	T T	TACACACT others(36): Show TACACACTCACATACAGACACAACCACACCACACTCACACACAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	451	0.0022	43	c.193 others(60): Show c.1939-684_1939-683insTCACACACACACACACTCACATACAGAC ACAACCACACCACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182264	A A	ACACACAG others(36): Show ACACACAGACACAACCACACCACACACACACACACATACACACT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	448	0.0022	43	c.193 others(60): Show c.1939-673_1939-672insCAGACACAACCACACCACACACACACAC ACATACACACTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN12_chr19_38725192_38749474	38735883	G G	GGGGCGGG others(36): Show GGGGCGGGGCGGTGGTTCTGGGCGGGGCGGGGCGGGGGTTCTGC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0016 a0016	a0016c0021 a0016c0021	a0016c0021t0001 a0016c0021t0001	a0016c0021t0001g0144 a0016c0021t0001g0144	1	282	0.0035	43	c.158 others(60): Show c.1583+226_1583+227insGCAGAACCCCCGCCCCGCCCCGCCCAGA ACCACCGCCCCGCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CARD11_chr7_2901142_3048867	2909597	C C	CGCCCCTC others(36): Show CGCCCCTCACCCCTCAGCCTCTCACTCTCCGTCCCTCACCCTCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02976.hp1 HG01109.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0020 a0001c0003 a0001c0020	a0001c0003t0001 a0001c0020t0013 a0001c0003t0001 a0001c0020t0013	a0001c0003t0001g0005 a0001c0020t0013g0051 a0001c0003t0001g0005 a0001c0020t0013g0051	2	226	0.0088	43	c.326 others(60): Show c.3260+452_3260+453insAGAGGGTGAGGGACGGAGAGTGAGAGGC TGAGGGGTGAGGGGC	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CARMIL1_chr6_25274374_25625530	25450984	C C	CTCTCCCC others(36): Show CTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCT	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18979.hp1 HG03669.hp1 NA18979.hp1	a0003 a0004 a0003 a0004	a0003c0010 a0004c0011 a0003c0010 a0004c0011	a0003c0010t0003 a0004c0011t0006 a0003c0010t0003 a0004c0011t0006	a0003c0010t0003g0019 a0004c0011t0006g0070 a0003c0010t0003g0019 a0004c0011t0006g0070	2	39	0.0513	43	c.614 others(58): Show c.614+273_614+274insTCTCCCCTCTCCCCTCTCCCCTCTCCCCTC TCCCCTCTCCCCT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36			chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459266	C C	CTTTCTTT others(36): Show CTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0119 a0001c0003t0004g0119	1	164	0.0061	43	c.615 others(60): Show c.615-6604_615-6603insCTTTCTTTCTTTTCTTTCTTTCTTTCTT TCTTTCTTTTCTTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CASC3_chr17_40135537_40177171	40139295	T T	TAAAAACT others(36): Show TAAAAACTTAGCTCATGCACTTTGTATATCCTTATAATGGTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	264	0.0038	43	c.-12 others(54): Show c.-1254_-1253insAAAAACTTAGCTCATGCACTTTGTATATCCTTAT AATGGTCCA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		1241		chr17	TogoVar
CASP4_chr11_104937866_104973574	104971042	G G	GGCCGAGC others(36): Show GGCCGAGCCGCCAGGGACCAGGCGAGATAAACGGGATTGAGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	356	0.0028	43	c.-25 others(54): Show c.-2518_-2517insGGCCTCAATCCCGTTTATCTCGCCTGGTCCCTGG CGGCTCGGC	CASP4	ENSG00000196954.14	transcript	ENST00000444739.7	protein_coding		2469		chr11	TogoVar
CASR_chr3_122178668_122296629	122252407	G G	GTAGGAAG others(36): Show GTAGGAAGGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	230	0.0043	43	c.-24 others(62): Show c.-242-1541_-242-1540insTAGGAAGGAAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252448	A A	AGAAAGAA others(36): Show AGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp2 HG01346.hp1 others(9): Show HG00735.hp1 HG01175.hp2 HG01346.hp1 HG01943.hp2 HG02683.hp1 HG02735.hp1 HG03486.hp2 HG03710.hp1 HG04199.hp2 NA18952.hp1 NA18965.hp1 NA18993.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0002c0010 a0003c0004 others(2): Show a0001c0001 a0002c0010 a0003c0004 a0004c0003 a0006c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0002c0010t0002 a0003c0004t0008 a0004c0003t0004 a0006c0009t0030	a0001c0001t0001g0273 a0001c0001t0003g0281 a0001c0001t0003g0293 others(9): Show a0001c0001t0001g0273 a0001c0001t0003g0281 a0001c0001t0003g0293 a0001c0001t0005g0189 a0001c0001t0010g0288 a0001c0001t0010g0303 a0002c0010t0002g0282 a0003c0004t0008g0167 a0004c0003t0004g0296 a0004c0003t0004g0299 a0004c0003t0004g0300 a0006c0009t0030g0275	12	276	0.0435	43	c.-24 others(62): Show c.-242-1500_-242-1499insGAAAGAAAGAAAGAAAAAGAAAGAAA GAAAGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252448	A A	AGAAAGAA others(36): Show AGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0178 a0001c0001t0033g0178	1	265	0.0038	43	c.-24 others(62): Show c.-242-1500_-242-1499insGAAAGAAAGAAAGAGAAAGAAAGAAA GAAAGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASZ1_chr1_10631604_10801646	10715786	A A	ACCCCACA others(36): Show ACCCCACAGCACCCAATCCGCTCCCTGCAGCACCCAATCCACAC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0187 a0001c0016t0001g0187	1	234	0.0043	43	c.-76 others(62): Show c.-76-10243_-76-10242insGTGTGGATTGGGTGCTGCAGGGAGCG GATTGGGTGCTGTGGGG	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CATIP_chr2_218351857_218373094	218354413	T T	TGATCGCC others(36): Show TGATCGCCACATGTATCACAGCCTGTACCTGAAGGTGAAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	364	0.0027	43	c.-24 others(54): Show c.-2472_-2471insGATCGCCACATGTATCACAGCCTGTACCTGAAGG TGAAGGGGA	CATIP	ENSG00000158428.4	transcript	ENST00000289388.4	protein_coding		2443		chr2	TogoVar
CATSPER4_chr1_26185602_26207964	26206510	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0161 a0001c0003t0001g0161	1	393	0.0025	43	c.39 others(54): Show c.3968_*3969insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAG	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding		3547		chr1	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	46	0.0217	43	c.142 others(62): Show c.1428-1156_1428-1155insATATATATATATATATATATATATAT ATATATTTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA18955.hp1 HG00280.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0143 a0001c0001t0002g0013 a0001c0001t0001g0143 a0001c0001t0002g0013	2	120	0.0167	43	c.195 others(60): Show c.195+7707_195+7708insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CBFA2T3_chr16_88869858_88982207	88975155	T T	TCCACCCT others(36): Show TCCACCCTGACCCTCTGCTCCTCACCTGCAGCCATATCAAAGGG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	165	0.0061	43	c.151 others(60): Show c.151+1501_151+1502insCCCTTTGATATGGCTGCAGGTGAGGAGC AGAGGGTCAGGGTGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975155	T T	TCCACCCT others(36): Show TCCACCCTGATCCTCTGCTCCTCACCTGCAGCCATATCAAAGGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	165	0.0061	43	c.151 others(60): Show c.151+1501_151+1502insCCCTTTGATATGGCTGCAGGTGAGGAGC AGAGGATCAGGGTGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975155	T T	TCCACCCT others(36): Show TCCACCCTGATCCTCTGCTCCTGACCTGCAGCCATATCAAAGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG04204.hp2 HG01243.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0148 a0001c0001t0001g0067 a0001c0001t0001g0148	2	166	0.0120	43	c.151 others(60): Show c.151+1501_151+1502insCCCTTTGATATGGCTGCAGGTCAGGAGC AGAGGATCAGGGTGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975155	T T	TCCACCCT others(36): Show TCCACCCTGGCCCTCTGCTCCTCACCTGCAGCCATATCAAAGGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01884.hp2 NA18967.hp2 others(1): Show HG00280.hp2 HG01884.hp2 NA18967.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 others(1): Show a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0270	4	168	0.0238	43	c.151 others(60): Show c.151+1501_151+1502insCCCTTTGATATGGCTGCAGGTGAGGAGC AGAGGGCCAGGGTGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975155	T T	TCCACCCT others(36): Show TCCACCCTGGCCCTCTGCTCCTGACCTCCAGCCATATCAAAGGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02109.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0025 a0001c0001t0024 a0001c0001t0025	a0001c0001t0024g0267 a0001c0001t0025g0098 a0001c0001t0024g0267 a0001c0001t0025g0098	2	166	0.0120	43	c.151 others(60): Show c.151+1501_151+1502insCCCTTTGATATGGCTGGAGGTCAGGAGC AGAGGGCCAGGGTGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975155	T T	TCCACCCT others(36): Show TCCACCCTGGCCCTCTGCTCCTGACCTGCAGCCATATCAAAGGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03017.hp1 NA21309.hp1 HG02818.hp1 HG03017.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0149 a0001c0001t0001g0230 a0001c0001t0001g0074 a0001c0001t0001g0149 a0001c0001t0001g0230	3	167	0.0180	43	c.151 others(60): Show c.151+1501_151+1502insCCCTTTGATATGGCTGCAGGTCAGGAGC AGAGGGCCAGGGTGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar

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