Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CACNG2_chr22_36555857_36708752	36703760	G G	GCTCGCTC others(41): Show GCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG04204.hp2 HG02630.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0057 a0001c0001t0055 a0001c0001t0057	a0001c0001t0055g0106 a0001c0001t0057g0107 a0001c0001t0055g0106 a0001c0001t0057g0107	2	214	0.0094	48	c.-11 others(59): Show c.-1185_-1184insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGCGAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		9		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36706226	C C	CTCTTCTT others(41): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01516.hp2 HG02886.hp1 HG01192.hp2 HG01516.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0080 a0001c0001t0105 a0001c0001t0012 a0001c0001t0080 a0001c0001t0105	a0001c0001t0012g0173 a0001c0001t0080g0147 a0001c0001t0105g0206 a0001c0001t0012g0173 a0001c0001t0080g0147 a0001c0001t0105g0206	3	214	0.0140	48	c.-36 others(59): Show c.-3651_-3650insAGGAGAAGGAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		2475		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36706230	T T	TCTTCTTC others(41): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0170 a0001c0001t0003g0170	1	214	0.0047	48	c.-36 others(59): Show c.-3655_-3654insGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		2479		chr22	TogoVar
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	a0001c0001t0003g0167 a0001c0001t0006g0144 a0001c0001t0003g0167 a0001c0001t0006g0144	2	214	0.0094	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	a0001c0001t0006g0100 a0001c0001t0006g0100	1	430	0.0023	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	a0001c0001t0001g0065 a0001c0001t0001g0065	1	364	0.0028	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	a0001c0001t0001g0205 a0001c0001t0001g0205	1	364	0.0028	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	a0001c0001t0001g0018 a0001c0001t0001g0018	1	364	0.0028	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	146	0.0343	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	146	0.0206	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	428	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	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0226 a0002c0002t0001g0226	1	328	0.0031	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	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0173 a0002c0002t0001g0187 a0002c0002t0001g0173 a0002c0002t0001g0187	2	328	0.0061	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	292	0.0069	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	142	0.0070	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	a0001c0001t0001g0155 a0001c0001t0001g0155	1	370	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	0.0094	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	214	0.0140	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	214	0.0047	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	214	0.0234	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 a0001c0001t0031 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073	a0001c0001t0001g0109 a0001c0001t0008g0234 a0001c0001t0011g0137 others(4): Show a0001c0001t0001g0109 a0001c0001t0008g0234 a0001c0001t0011g0137 a0001c0001t0031g0251 a0001c0001t0071g0210 a0001c0001t0072g0269 a0001c0001t0073g0201	7	278	0.0252	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	a0001c0001t0001g0234 a0001c0001t0001g0234	1	366	0.0027	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	a0001c0001t0001g0358 a0001c0001t0001g0358	1	366	0.0027	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	58	0.0345	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	58	0.0172	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	a0001c0001t0001g0089 a0001c0001t0001g0089	1	342	0.0029	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	a0001c0001t0002g0379 a0001c0001t0003g0380 a0001c0001t0002g0379 a0001c0001t0003g0380	2	384	0.0052	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 a0009 a0001 a0009	a0001c0004 a0001c0006 a0009c0024 a0001c0004 a0001c0006 a0009c0024	a0001c0004t0001 a0001c0006t0003 a0009c0024t0001 others(1): Show a0001c0004t0001 a0001c0006t0003 a0009c0024t0001 a0009c0024t0002	a0001c0004t0001g0269 a0001c0006t0003g0006 a0001c0006t0003g0270 others(2): Show a0001c0004t0001g0269 a0001c0006t0003g0006 a0001c0006t0003g0270 a0009c0024t0001g0386 a0009c0024t0002g0359	6	410	0.0146	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	a0001c0003t0002g0005 a0001c0003t0002g0005	1	378	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	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0017 a0006c0009t0017	a0006c0009t0017g0036 a0006c0009t0017g0036	1	242	0.0041	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	364	0.0110	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	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0081 a0001c0001t0064g0081	1	334	0.0030	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	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0065 a0001c0001t0088g0065	1	334	0.0030	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	a0001c0001t0001g0068 a0001c0002t0001g0016 a0001c0003t0002g0002 others(3): Show a0001c0001t0001g0068 a0001c0002t0001g0016 a0001c0003t0002g0002 a0001c0003t0004g0022 a0002c0005t0003g0011 a0004c0011t0013g0055	6	186	0.0323	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	a0001c0001t0001g0101 a0001c0001t0001g0101	1	321	0.0031	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	a0001c0001t0001g0233 a0001c0001t0001g0233	1	266	0.0038	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	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0005 a0004c0007t0005	a0004c0007t0005g0057 a0004c0007t0005g0057	1	386	0.0026	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	a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0032 a0001c0001t0003g0033	2	314	0.0064	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	314	0.0096	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	a0001c0001t0007g0172 a0001c0001t0007g0172	1	314	0.0032	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	a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0002g0112 others(2): Show a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0002g0112 a0001c0001t0003g0126 a0001c0001t0007g0171	5	314	0.0159	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	a0001c0001t0001g0008 a0001c0001t0005g0012 a0001c0001t0005g0021 others(3): Show a0001c0001t0001g0008 a0001c0001t0005g0012 a0001c0001t0005g0021 a0001c0001t0005g0119 a0001c0001t0023g0111 a0004c0003t0045g0263	7	314	0.0223	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	a0001c0001t0013g0021 a0001c0001t0013g0022 a0001c0001t0013g0021 a0001c0001t0013g0022	2	228	0.0088	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 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0031 a0001c0001t0091	a0001c0001t0002g0003 a0001c0001t0003g0088 a0001c0001t0006g0085 others(2): Show a0001c0001t0002g0003 a0001c0001t0003g0088 a0001c0001t0006g0085 a0001c0001t0031g0087 a0001c0001t0091g0086	5	228	0.0219	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 a0001c0001t0065 a0001c0001t0076	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(7): Show a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0002g0108 a0001c0001t0011g0001 a0001c0001t0012g0001 a0001c0001t0014g0102 a0001c0001t0065g0103 a0001c0001t0076g0107	10	228	0.0439	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	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 others(9): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0188 a0001c0001t0002g0143 a0001c0001t0007g0137 a0001c0001t0026g0135 a0001c0001t0027g0138	12	228	0.0526	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	a0001c0001t0001g0122 a0001c0001t0001g0185 a0001c0001t0001g0122 a0001c0001t0001g0185	2	228	0.0088	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	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0144 a0001c0001t0080g0144	1	228	0.0044	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	a0001c0002t0089 a0001c0002t0089	a0001c0002t0089g0183 a0001c0002t0089g0183	1	228	0.0044	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

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