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
CACNG2_chr22_36555857_36708752	36706233	T T	TCTTCTTC others(41): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01943.hp2 HG01070.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0168 a0001c0001t0006g0145 a0001c0001t0003g0168 a0001c0001t0006g0145	2	178	0.0112	48	c.-36 others(59): Show c.-3658_-3657insGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		2482		chr22	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0114 a0001c0001t0006g0114	1	173	0.0058	48	c.545 others(63): Show c.545-745_545-744insAAAAAAAAAAAAAAAAAAAATATATATATA TATATATATATATATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906078	C C	CCTTCTTC others(41): Show CCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	318	0.0031	48	c.-34 others(59): Show c.-3469_-3468insCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3199		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906081	C C	CCTTCTTC others(41): Show CCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	274	0.0036	48	c.-34 others(59): Show c.-3466_-3465insCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3196		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906084	C C	CCTCCTCC others(41): Show CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	124	0.0081	48	c.-34 others(59): Show c.-3463_-3462insCTCCTCCTCCTCCTCCTCCTCCTCCTCCTTCTTC TTCTTCTTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3193		chr19	TogoVar
CADM2_chr3_84953989_86079429	85431860	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01175.hp2 HG01261.hp2 others(2): Show HG01074.hp1 HG01175.hp2 HG01261.hp2 HG02615.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0021 a0001c0001t0030	a0001c0001t0001g0125 a0001c0001t0003g0104 a0001c0001t0009g0094 others(2): Show a0001c0001t0001g0125 a0001c0001t0003g0104 a0001c0001t0009g0094 a0001c0001t0021g0127 a0001c0001t0030g0116	5	40	0.1250	48	c.62- others(67): Show c.62-294650_62-294649insATATATATATATATATATATATATAT ATATATATATATATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85431860	C C	CATATGTA others(41): Show CATATGTATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01884.hp2 HG04115.hp2 HG00621.hp1 HG01884.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0039 a0001c0001t0001 a0001c0001t0015 a0001c0001t0039	a0001c0001t0001g0108 a0001c0001t0015g0076 a0001c0001t0039g0072 a0001c0001t0001g0108 a0001c0001t0015g0076 a0001c0001t0039g0072	3	38	0.0789	48	c.62- others(67): Show c.62-294658_62-294657insGTATATATATATATATATATATATAT ATATATATATATATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CALCOCO1_chr12_53703517_53732452	53703923	G G	GCAGAGGT others(41): Show GCAGAGGTTGGATGACTACCAACGAGAGATGTGGTCCAGGGAATTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0055 a0001c0004t0011g0055	1	426	0.0023	48	c.80 others(59): Show c.8020_*8021insAAGAAATTCCCTGGACCACATCTCTCGTTGGTAG TCATCCAACCTCTG	CALCOCO1	ENSG00000012822.16	transcript	ENST00000550804.6	protein_coding		4593		chr12	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0225 a0003c0002t0001g0225	1	33	0.0303	48	c.912 others(65): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATATATATATATATTTTTTT	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(41): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19060.hp2 NA18954.hp2 NA19060.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0172 a0003c0002t0001g0185 a0003c0002t0001g0172 a0003c0002t0001g0185	2	34	0.0588	48	c.912 others(65): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATATATATATTTTTTTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCR_chr7_93419486_93579724	93554769	G G	GTATATAT others(41): Show GTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA19075.hp2 NA18940.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0126 a0001c0001t0006g0134 a0001c0001t0002g0126 a0001c0001t0006g0134	2	56	0.0357	48	c.-27 others(67): Show c.-27+19519_-27+19520insTATATATATATATATATATATATATA TATATATATATATATATATATA	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	2/13			chr7	TogoVar
CALN1_chr7_71774491_72417338	72054484	T T	TATATACA others(41): Show TATATACATATATACATACATATATATATACATATATACATATATATAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0139 a0001c0001t0058g0139	1	142	0.0070	48	c.389 others(67): Show c.389-30716_389-30715insGTATATATATGTATATATGTATATAT ATATGTATGTATATATGTATAT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	4/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAATA others(41): Show AAAAAATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0046 a0001c0001t0014g0046	1	14	0.0714	48	c.244 others(65): Show c.244+7110_244+7111insATATATATATATATATATATATATATAT ATATATATATATATATTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALR3_chr19_16474061_16501167	16486292	G G	GGCGACAG others(41): Show GGCGACAGAGTGAGACTCTGTCTCAAATAAATAAATAATATCTTAGCCT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	368	0.0027	48	c.398 others(65): Show c.398-1036_398-1035insAGGCTAAGATATTATTTATTTATTTGAG ACAGAGTCTCACTCTGTCGC	CALR3	ENSG00000269058.6	transcript	ENST00000269881.8	protein_coding	3/8			chr19	TogoVar
CAMK1D_chr10_12344547_12840545	12528927	A A	AGATAGTG others(41): Show AGATAGTGTCTCACCTTGTTGCCCAGGCTGGTCTTGAACTCCTGGACTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp2 HG01884.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0102 a0001c0001t0032 a0001c0001t0102	a0001c0001t0032g0042 a0001c0001t0102g0010 a0001c0001t0032g0042 a0001c0001t0102g0010	2	214	0.0093	48	c.93- others(65): Show c.93-24205_93-24158dupACTTGATAGTGTCTCACCTTGTTGCCCA GGCTGGTCTTGAACTCCTGG	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12623139	T T	TCCTCCCT others(41): Show TCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCTTTCTTTCCTTCCTC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18999.hp1 NA19091.hp1 NA18990.hp2 NA18999.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0086 a0001c0002t0021 a0001c0001t0001 a0001c0001t0086 a0001c0002t0021	a0001c0001t0001g0071 a0001c0001t0086g0181 a0001c0002t0021g0023 a0001c0001t0001g0071 a0001c0001t0086g0181 a0001c0002t0021g0023	3	91	0.0330	48	c.225 others(67): Show c.225-43590_225-43589insCCCTTCCTCCCTTCCTTCCTCCCTCC TTTCTTTCCTTCCTCCCTCCCT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12693983	A A	ATATATAA others(41): Show ATATATAAAATATATAATATATATTATATATAAAATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0025	1	203	0.0049	48	c.299 others(67): Show c.299+27179_299+27180insAAATATATAATATATATTATATATAA AATATATAATATATATTATATA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12694088	A A	ATATATAT others(41): Show ATATATATTATATATATAATATATAATATATATTATGTATAATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02559.hp1 HG02886.hp2 others(2): Show HG02074.hp2 HG02559.hp1 HG02886.hp2 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0001t0098 a0001c0002t0004 others(2): Show a0001c0001t0013 a0001c0001t0098 a0001c0002t0004 a0001c0002t0032 a0001c0002t0061	a0001c0001t0013g0155 a0001c0001t0098g0037 a0001c0002t0004g0077 others(2): Show a0001c0001t0013g0155 a0001c0001t0098g0037 a0001c0002t0004g0077 a0001c0002t0032g0008 a0001c0002t0061g0033	5	194	0.0258	48	c.299 others(67): Show c.299+27291_299+27292insTATAATATATAATATATATTATGTAT AATATATATTATATATTATATA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK2D_chr4_113446032_113766738	113603788	T T	TGTATATA others(41): Show TGTATATATATATATATATATATACATATATATATATATATATGTATAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02083.hp2 HG02155.hp1 others(4): Show HG00544.hp2 HG02083.hp2 HG02155.hp1 HG02165.hp2 NA18950.hp1 NA18971.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0001t0032 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073	a0001c0001t0001g0109 a0001c0001t0008g0234 a0001c0001t0011g0137 others(4): Show a0001c0001t0001g0109 a0001c0001t0008g0234 a0001c0001t0011g0137 a0001c0001t0032g0251 a0001c0001t0071g0210 a0001c0001t0072g0269 a0001c0001t0073g0201	7	274	0.0255	48	c.275 others(65): Show c.275+5363_275+5364insGTATACATATATATATATATATATGTAT ATATATATATATATATATAC	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	4/20			chr4	TogoVar
CAMSAP2_chr1_200733893_200865704	200816808	A A	ATGTGTGT others(41): Show ATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	338	0.0030	48	c.645 others(65): Show c.645+1165_645+1166insGTGTGTACACACACACGCGTGTGTATGT GTGTACACACACACGCGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816810	A A	ATGTGTGT others(41): Show ATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACGCGTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0355 a0001c0001t0001g0355	1	234	0.0043	48	c.645 others(65): Show c.645+1167_645+1168insGTGTGTACACACACACGCGTGTGTATGT GTGTACACACACGCGTGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7276303	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02523.hp1 HG02280.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0012 a0001c0003t0001 a0001c0001t0012 a0001c0003t0001	a0001c0001t0012g0019 a0001c0003t0001g0004 a0001c0001t0012g0019 a0001c0003t0001g0004	2	14	0.1429	48	c.438 others(67): Show c.438+26678_438+26679insATATATATATATATATATATATATAT ATATATATTTTTTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7594117	G G	GAGAAAGA others(41): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	46	0.0217	48	c.511 others(67): Show c.511-46259_511-46258insAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAA	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN12_chr19_38725192_38749474	38736026	G G	GGCGGGGC others(41): Show GGCGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCAGGTCA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	324	0.0031	48	c.158 others(63): Show c.1583+83_1583+84insTGACCTGCCCCGCCCCCAGAACCCCCGCCC CGCCCCGCCCCGCCCCGC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN13_chr2_30717771_30812446	30796186	A A	ATATATAT others(41): Show ATATATATACATATATATGTGTGTGTATATATATATACACATATATATG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03453.hp2 HG02922.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0373 a0001c0001t0003g0372 a0001c0001t0002g0373 a0001c0001t0003g0372	2	380	0.0053	48	c.-32 others(65): Show c.-32-8830_-32-8829insCATATATATGTGTATATATATATACACA CACATATATATGTATATATA	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN15_chr16_522712_559636	551233	G G	GGGCCCCG others(41): Show GGGCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCCTGTCGGTGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp1 HG02615.hp1 others(3): Show HG02257.hp2 HG02559.hp1 HG02615.hp1 HG02717.hp1 HG03041.hp2 HG03130.hp2	a0001 a0008 a0001 a0008	a0001c0004 a0001c0006 a0008c0024 a0001c0004 a0001c0006 a0008c0024	a0001c0004t0001 a0001c0006t0003 a0008c0024t0001 others(1): Show a0001c0004t0001 a0001c0006t0003 a0008c0024t0001 a0008c0024t0002	a0001c0004t0001g0268 a0001c0006t0003g0007 a0001c0006t0003g0269 others(2): Show a0001c0004t0001g0268 a0001c0006t0003g0007 a0001c0006t0003g0269 a0008c0024t0001g0386 a0008c0024t0002g0293	6	391	0.0153	48	c.206 others(63): Show c.2067-67_2067-66insCCCCGGTCGGTGAGGGCCCCGGTCGGTGAG GGCCCCCTGTCGGTGAGG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN2_chr1_223707539_223781018	223730105	A A	ATTATGTA others(41): Show ATTATGTAGATGAAGTCTCACAGAGGGCCACTCTCAAAGGCAATAGATG	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0019 a0001c0003t0002g0019	1	376	0.0027	48	c.307 others(67): Show c.307+12275_307+12322dupTTATGTAGATGAAGTCTCACAGAGGG CCACTCTCAAAGGCAATAGATG	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN6_chrX_111240099_111275483	111270389	C C	CCTGCTGC others(41): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0015 a0005c0009t0015	a0005c0009t0015g0035 a0005c0009t0015g0035	1	189	0.0053	48	c.-35 others(55): Show c.-35_-34insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAGCAG	CAPN6	ENSG00000077274.9	transcript	ENST00000324068.2	protein_coding	1/13	6454		chrX	TogoVar
CAPZB_chr1_19333775_19490539	19366283	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19005.hp2 NA19056.hp2 others(1): Show NA18999.hp1 NA19005.hp2 NA19056.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0139 a0001c0001t0001g0154 others(1): Show a0001c0001t0001g0053 a0001c0001t0001g0139 a0001c0001t0001g0154 a0001c0001t0001g0313	4	198	0.0202	48	c.330 others(65): Show c.330-8721_330-8720insATATATATATATATATATATATATATAT ATATATATATATATATATAT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CARF_chr2_202907275_202993263	202986885	T T	TATATACA others(41): Show TATATACATATATATATACATATATATATATACATATATATATATATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0166 a0001c0001t0048g0166	1	299	0.0033	48	c.32 others(59): Show c.3266_*3267insCATATATATATACATATATATATATACATATATA TATATATACATATA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	17/17	3267	INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202986885	T T	TATATATA others(41): Show TATATATATATATACATATATATATATATATACATATATATATATATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0149 a0001c0001t0072g0149	1	299	0.0033	48	c.32 others(59): Show c.3274_*3275insCATATATATATATATATACATATATATATATATA CATATATATATATA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	17/17	3275	INFO_REALIGN_3_PRIME	chr2	TogoVar
CARMIL1_chr6_25274374_25625530	25313683	G G	GCATATAT others(41): Show GCATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01952.hp2 HG02735.hp2 others(3): Show HG01167.hp2 HG01952.hp2 HG02735.hp2 HG03516.hp2 NA18946.hp2 NA19072.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005 a0004c0011	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0001c0003t0004 a0002c0005t0003 a0004c0011t0013	a0001c0001t0001g0079 a0001c0002t0001g0010 a0001c0003t0002g0002 others(3): Show a0001c0001t0001g0079 a0001c0002t0001g0010 a0001c0003t0002g0002 a0001c0003t0004g0003 a0002c0005t0003g0054 a0004c0011t0013g0078	6	115	0.0522	48	c.138 others(67): Show c.138+28774_138+28775insCATATATATATATATATATATATATA TATATATATATATATATATATA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36			chr6	TogoVar
CARS1_chr11_2995929_3062423	3031996	T T	TTCCTTCC others(41): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	268	0.0037	48	c.802 others(65): Show c.802-2554_802-2553insGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAAGGAAGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CASC3_chr17_40135537_40177171	40140377	C C	CACACACC others(41): Show CACACACCAACACACACACACACACACACCCCAACACACACACACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	256	0.0039	48	c.-17 others(57): Show c.-172_-171insACACACCAACACACACACACACACACACCCCAACAC ACACACACCCCA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		159		chr17	TogoVar
CASP8_chr2_201255536_201292709	201283070	C C	CGGGGCGG others(41): Show CGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0005 a0006c0007t0005	a0006c0007t0005g0066 a0006c0007t0005g0066	1	328	0.0030	48	c.803 others(65): Show c.803-1724_803-1723insCTGACCCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGCGGGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASR_chr3_122178668_122296629	122252407	G G	GTAGGAAG others(41): Show GTAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp1 HG00741.hp2 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0031 a0001c0001t0003g0032	2	231	0.0087	48	c.-24 others(67): Show c.-242-1541_-242-1540insTAGGAAGGAAAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(41): Show AGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAAAGAAAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18962.hp2 NA18979.hp1 NA18960.hp2 NA18962.hp2 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	3	41	0.0732	48	c.-24 others(67): Show c.-242-1539_-242-1538insGGAAGGAAGGAAGGAAGGAAAAAGAA AGAAAGAAAAAGAAAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(41): Show AGGAAGGAAGGTAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0173 a0001c0001t0007g0173	1	39	0.0256	48	c.-24 others(67): Show c.-242-1539_-242-1538insGGAAGGAAGGTAGGAAGGAAAAAGAA AGAAAGAAAGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGT others(41): Show AGGAAGGTAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01071.hp2 HG02559.hp1 others(2): Show HG00099.hp1 HG01071.hp2 HG02559.hp1 HG02895.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0002g0108 others(2): Show a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0002g0108 a0001c0001t0003g0122 a0001c0001t0007g0172	5	43	0.1163	48	c.-24 others(67): Show c.-242-1539_-242-1538insGGAAGGTAGGAAGGAAAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGTAGGA others(41): Show AGGTAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02451.hp1 HG03471.hp2 others(4): Show HG02155.hp2 HG02451.hp1 HG03471.hp2 HG03540.hp2 HG03688.hp1 NA18945.hp1 NA18946.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0023 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0023 a0004c0003t0045	a0001c0001t0001g0007 a0001c0001t0005g0011 a0001c0001t0005g0020 others(3): Show a0001c0001t0001g0007 a0001c0001t0005g0011 a0001c0001t0005g0020 a0001c0001t0005g0115 a0001c0001t0023g0128 a0004c0003t0045g0264	7	45	0.1556	48	c.-24 others(67): Show c.-242-1539_-242-1538insGGTAGGAAGGAAAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACACAC others(41): Show ACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp1 HG02280.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0035 a0001c0001t0013g0038 a0001c0001t0013g0035 a0001c0001t0013g0038	2	88	0.0227	48	c.113 others(63): Show c.113+785_113+786insACACACACTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACACTC others(41): Show ACACACTCACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01192.hp2 HG02165.hp1 others(2): Show HG00438.hp2 HG01192.hp2 HG02165.hp1 HG02818.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0031 a0001c0001t0092	a0001c0001t0002g0004 a0001c0001t0003g0165 a0001c0001t0005g0131 others(2): Show a0001c0001t0002g0004 a0001c0001t0003g0165 a0001c0001t0005g0131 a0001c0001t0031g0164 a0001c0001t0092g0140	5	91	0.0549	48	c.113 others(63): Show c.113+785_113+786insACACTCACTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTGTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACTCAC others(41): Show ACACTCACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01978.hp2 HG02074.hp2 others(7): Show HG01884.hp2 HG01978.hp2 HG02074.hp2 HG02451.hp1 HG02922.hp1 HG02922.hp2 HG03098.hp1 HG03491.hp2 HG03492.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0066 a0001c0001t0077	a0001c0001t0001g0090 a0001c0001t0001g0126 a0001c0001t0001g0134 others(7): Show a0001c0001t0001g0090 a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0174 a0001c0001t0002g0162 a0001c0001t0011g0003 a0001c0001t0012g0003 a0001c0001t0014g0079 a0001c0001t0066g0089 a0001c0001t0077g0150	10	96	0.1042	48	c.113 others(63): Show c.113+785_113+786insACTCACTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTGTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965885	C C	CACTCTCT others(41): Show CACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01081.hp1 HG01256.hp2 others(9): Show HG00609.hp2 HG01081.hp1 HG01256.hp2 HG01981.hp1 HG02004.hp2 HG02155.hp2 HG02683.hp1 HG03710.hp1 HG03942.hp2 HG06807.hp2 NA18944.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0026 a0001c0001t0027	a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0115 others(9): Show a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0115 a0001c0001t0001g0143 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0187 a0001c0001t0002g0175 a0001c0001t0007g0116 a0001c0001t0026g0112 a0001c0001t0027g0121	12	108	0.1111	48	c.113 others(63): Show c.113+787_113+788insACTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTGTCTG	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8			chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965905	C C	CTCTCTCT others(41): Show CTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19056.hp2 NA18950.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0069 a0001c0001t0001g0070	2	78	0.0256	48	c.113 others(63): Show c.113+815_113+816insTCTCTCTCTCTCTCTGTCTGTCTCTCTCTC TCTCTCTCTGTCTCTCTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965905	C C	CTCTCTCT others(41): Show CTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0071 a0001c0001t0081g0071	1	77	0.0130	48	c.113 others(63): Show c.113+815_113+816insTCTCTCTCTCTCTCTGTCTGTCTGTCTCTC TCTCTCTCTGTCTCTCTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965905	C C	CTCTCTCT others(41): Show CTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0090 a0001c0002t0090	a0001c0002t0090g0072 a0001c0002t0090g0072	1	77	0.0130	48	c.113 others(63): Show c.113+815_113+816insTCTCTCTCTCTCTGTCTCTCTCTCTCTCTC TCTCTCTCTGTCTCTCTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASZ1_chr1_10631604_10801646	10744344	C C	CGGCACCA others(41): Show CGGCACCACGAGCAGGCACGTCCTGGGCACCACGAGCAGGCACGTCCTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02717.hp2 NA19043.hp1 others(1): Show HG02258.hp1 HG02717.hp2 NA19043.hp1 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0012 a0002c0024 a0004c0005 others(1): Show a0001c0012 a0002c0024 a0004c0005 a0005c0017	a0001c0012t0001 a0002c0024t0040 a0004c0005t0001 others(1): Show a0001c0012t0001 a0002c0024t0040 a0004c0005t0001 a0005c0017t0041	a0001c0012t0001g0172 a0002c0024t0040g0166 a0004c0005t0001g0146 others(1): Show a0001c0012t0001g0172 a0002c0024t0040g0166 a0004c0005t0001g0146 a0005c0017t0041g0083	4	110	0.0364	48	c.-77 others(67): Show c.-77+16356_-77+16357insCAGGACGTGCCTGCTCGTGGTGCCCA GGACGTGCCTGCTCGTGGTGCC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10744344	C C	CGGCACCA others(41): Show CGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02129.hp2 HG02559.hp2 others(3): Show HG01928.hp1 HG02129.hp2 HG02559.hp2 HG02572.hp1 NA18962.hp2 NA19012.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0008 a0001c0013 others(2): Show a0001c0001 a0001c0008 a0001c0013 a0002c0007 a0003c0006	a0001c0001t0001 a0001c0008t0019 a0001c0013t0004 others(3): Show a0001c0001t0001 a0001c0008t0019 a0001c0013t0004 a0001c0013t0010 a0002c0007t0009 a0003c0006t0014	a0001c0001t0001g0204 a0001c0008t0019g0038 a0001c0013t0004g0101 others(3): Show a0001c0001t0001g0204 a0001c0008t0019g0038 a0001c0013t0004g0101 a0001c0013t0010g0086 a0002c0007t0009g0176 a0003c0006t0014g0196	6	112	0.0536	48	c.-77 others(67): Show c.-77+16309_-77+16356dupCAGGACATGCCTGCTCGTGGTGCCCA GGACATGCCTGCTCGTGGTGCC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10744362	T T	TGTCCTGG others(41): Show TGTCCTGGGCACCACGAGCAGGCACGTCCTGGGCACCACGAGCAGGCAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0041 a0001c0001t0031g0041	1	219	0.0046	48	c.-77 others(67): Show c.-77+16338_-77+16339insGTGCCTGCTCGTGGTGCCCAGGACGT GCCTGCTCGTGGTGCCCAGGAC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar

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