Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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	36703763	C C	CGCTCTCT others(29): Show CGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG02818.hp1 HG01175.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0155 a0001c0001t0008g0150 a0001c0001t0003g0155 a0001c0001t0008g0150	2	214	0.0094	36	c.-11 others(47): Show c.-1188_-1187insAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GC	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		12		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36706197	C C	CCTTCTTC others(29): Show CCTTCTTCTTCTTCTCCCTCTTCTTTTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA19030.hp2 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0023 a0001c0001t0005 a0001c0001t0023	a0001c0001t0005g0134 a0001c0001t0023g0131 a0001c0001t0005g0134 a0001c0001t0023g0131	2	214	0.0094	36	c.-36 others(47): Show c.-3622_-3621insAAGAAGAAGAAAAAGAAGAGGGAGAAGAAGAAGA AG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		2446		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36706226	C C	CTCTTCTT others(29): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG02258.hp1 HG02622.hp2 others(7): Show HG00597.hp2 HG02258.hp1 HG02622.hp2 HG02970.hp2 HG04204.hp1 HG06807.hp2 NA18906.hp2 NA19043.hp2 NA19079.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0020 others(5): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0060 a0001c0001t0103 a0001c0001t0104	a0001c0001t0005g0123 a0001c0001t0005g0127 a0001c0001t0009g0119 others(7): Show a0001c0001t0005g0123 a0001c0001t0005g0127 a0001c0001t0009g0119 a0001c0001t0020g0100 a0001c0001t0020g0101 a0001c0001t0021g0114 a0001c0001t0023g0113 a0001c0001t0060g0112 a0001c0001t0103g0204 a0001c0001t0104g0203	10	214	0.0467	36	c.-36 others(47): Show c.-3651_-3650insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		2475		chr22	TogoVar
CACNG6_chr19_53986637_54017666	53990466	C C	CCCCTCCT others(29): Show CCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0043 a0003c0009t0043	a0003c0009t0043g0410 a0003c0009t0043g0410	1	430	0.0023	36	c.-24 others(47): Show c.-2412_-2411insCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCC AA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		1170		chr19	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0283 a0001c0002t0019g0283	1	430	0.0023	36	c.545 others(51): Show c.545-745_545-744insAAAAAAAAAAAAAAAATATATATATATATA TATATA	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(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 NA19091.hp1 HG01891.hp1 HG01891.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0030 a0001c0001t0003 a0001c0001t0012 a0001c0001t0030	a0001c0001t0003g0218 a0001c0001t0012g0220 a0001c0001t0030g0194 a0001c0001t0003g0218 a0001c0001t0012g0220 a0001c0001t0030g0194	3	430	0.0070	36	c.545 others(51): Show c.545-745_545-744insAAAAAAAAAAAAAATATATATATATATATA TATATA	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(29): Show AAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0273 a0001c0002t0001g0273	1	430	0.0023	36	c.545 others(51): Show c.545-745_545-744insAAAAAAAAAAAATATATATATATATATATA TATATA	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(29): Show CCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0063 a0001c0001t0017g0063	1	364	0.0028	36	c.-34 others(47): Show c.-3469_-3468insCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTC TT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3199		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906081	C C	CCTTCTTC others(29): Show CCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	364	0.0028	36	c.-34 others(47): Show c.-3466_-3465insCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTC TT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3196		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906081	C C	CCTTCTTC others(29): Show CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0214 a0001c0001t0023g0214	1	364	0.0028	36	c.-34 others(47): Show c.-3466_-3465insCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3196		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906084	C C	CCTCCTCC others(29): Show CCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0355 a0001c0001t0001g0355	1	364	0.0028	36	c.-34 others(47): Show c.-3463_-3462insCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTTC TT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3193		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906084	C C	CCTCCTCC others(29): Show CCTCCTCCTCCTTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	364	0.0028	36	c.-34 others(47): Show c.-3463_-3462insCTCCTCCTCCTTCTTCTTCTTCTTCTTCTTCTTC TT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3193		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906084	C C	CCTCCTTC others(29): Show CCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	364	0.0028	36	c.-34 others(47): Show c.-3463_-3462insCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3193		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53990466	C C	CCCCTCCT others(29): Show CCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02809.hp1 HG02257.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0118 a0001c0001t0103 a0001c0001t0118	a0001c0001t0103g0116 a0001c0001t0118g0055 a0001c0001t0103g0116 a0001c0001t0118g0055	2	394	0.0051	36	c.76 others(47): Show c.7617_*7618insCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCC AA	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		252		chr19	TogoVar
CADM1_chr11_115164236_115509415	115284087	A A	ACTCTCTC others(29): Show ACTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02717.hp1 HG02523.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0125 a0001c0001t0003g0040 a0001c0001t0002g0125 a0001c0001t0003g0040	2	164	0.0122	36	c.125 others(55): Show c.125-43668_125-43667insAGAGAGAGAGAGGGAGAGAGAGAGAG AGAGAGAGAG	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115284087	A A	ACTCTCTC others(29): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0079 a0001c0001t0018g0079	1	164	0.0061	36	c.125 others(55): Show c.125-43668_125-43667insAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAG	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115400561	G G	GATATATA others(29): Show GATATATATATATATATAATATATATATATATCTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0059 a0001c0001t0048g0059	1	164	0.0061	36	c.124 others(57): Show c.124+103709_124+103710insAAAAGATATATATATATATTATAT ATATATATATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM2_chr3_84953989_86079429	85199370	T T	TGTGTGAG others(29): Show TGTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0145 a0001c0001t0029g0145	1	146	0.0069	36	c.61+ others(55): Show c.61+239703_61+239704insTGTGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAG	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85199370	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	146	0.0069	36	c.61+ others(55): Show c.61+239703_61+239704insTGTGTGTGTGTGAGAGAGAGAGAGAG AGAGAGAGAG	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0131 a0001c0001t0019g0131	1	146	0.0069	36	c.62- others(55): Show c.62-366855_62-366854insATATATATATATATATATATATATAT TTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85431860	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	146	0.0069	36	c.62- others(55): Show c.62-294650_62-294649insATATATATATATATATATATATATAT ATATATATAT	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(29): Show CATATGTATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG03209.hp1 NA19060.hp2 HG01516.hp2 HG03209.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0040 a0001c0001t0001 a0001c0001t0022 a0001c0001t0040	a0001c0001t0001g0063 a0001c0001t0022g0087 a0001c0001t0040g0024 a0001c0001t0001g0063 a0001c0001t0022g0087 a0001c0001t0040g0024	3	146	0.0206	36	c.62- others(55): Show c.62-294658_62-294657insGTATATATATATATATATATATATAT ATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85541773	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18977.hp1 HG03927.hp2 NA18977.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0010 a0002c0005t0004 a0001c0001t0010 a0002c0005t0004	a0001c0001t0010g0146 a0002c0005t0004g0058 a0001c0001t0010g0146 a0002c0005t0004g0058	2	146	0.0137	36	c.62- others(55): Show c.62-184748_62-184747insATATATATATATATATATATATATAT ATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85568444	T T	TTTCTTTC others(29): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0075 a0001c0001t0004g0075	1	146	0.0069	36	c.62- others(55): Show c.62-158058_62-158057insTTCTTTCTTTCTTTCATTCTTTCTTT CTTTCTTTCT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85568473	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	146	0.0069	36	c.62- others(55): Show c.62-158042_62-158007dupTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85568514	T T	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0004 a0001c0003t0024g0004	1	146	0.0069	36	c.62- others(55): Show c.62-158007_62-158006insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCCTCC	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85577984	T T	TTTCCTTC others(29): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0086 a0001c0001t0012g0086	1	146	0.0069	36	c.62- others(55): Show c.62-148527_62-148492dupCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122315296	T T	TCTCTCTC others(29): Show TCTCTCTCTCTCTCTCTCTCTCTCTTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0109 a0001c0003t0010g0109	1	126	0.0079	36	c.48 others(47): Show c.4868_*4869insGAGAGAGAGAGAAGAGAGAGAGAGAGAGAGAGAG AG	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding		3114		chr7	TogoVar
CADPS2_chr7_122313411_122891460	122645367	G G	GTATACAC others(29): Show GTATACACACACATGTACATGTGTGTATATATGTACA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	126	0.0079	36	c.787 others(55): Show c.787-16040_787-16039insTGTACATATATACACACATGTACATG TGTGTGTATA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	3/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122645367	G G	GTATACAC others(29): Show GTATACACACATATGTACATGTGTGTATATATGTACA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01109.hp1 HG01192.hp2 others(7): Show HG00609.hp1 HG01109.hp1 HG01192.hp2 HG01257.hp2 HG01975.hp1 HG02809.hp1 NA18946.hp2 NA18982.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 a0001c0002t0001 a0001c0002t0002 a0001c0004t0002	a0001c0002t0001g0002 a0001c0002t0001g0017 a0001c0002t0001g0054 others(7): Show a0001c0002t0001g0002 a0001c0002t0001g0017 a0001c0002t0001g0054 a0001c0002t0001g0069 a0001c0002t0001g0124 a0001c0002t0002g0051 a0001c0004t0002g0013 a0001c0004t0002g0015 a0001c0004t0002g0033 a0001c0004t0002g0056	10	126	0.0794	36	c.787 others(55): Show c.787-16040_787-16039insTGTACATATATACACACATGTACATA TGTGTGTATA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	3/29			chr7	TogoVar
CADPS_chr3_62393348_62880416	62599745	A A	ATTATATA others(29): Show ATTATATAATATATAATATATATAGTATATATAATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 homoSapiens_chm13v2.hp1 HG01192.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0142 a0001c0001t0001g0022 a0001c0001t0001g0142	2	160	0.0125	36	c.132 others(55): Show c.1326-6998_1326-6997insATATTATATATACTATATATATTATA TATTATATAA	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	6/29			chr3	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	328	0.0031	36	c.912 others(53): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATATTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCR_chr7_93419486_93579724	93460599	A A	ATATATGT others(29): Show ATATATGTGTATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	292	0.0034	36	c.648 others(51): Show c.648+221_648+222insCACATATATATATATATATATATATATACA CATATA	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	8/13			chr7	TogoVar
CALCR_chr7_93419486_93579724	93554769	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01952.hp2 HG02922.hp2 others(6): Show HG01081.hp2 HG01952.hp2 HG02922.hp2 HG02970.hp2 NA18978.hp1 NA18979.hp2 NA19003.hp1 NA19030.hp1 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0004c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0030 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0030 a0002c0002t0001 a0002c0002t0002 a0002c0004t0002 a0004c0012t0002	a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0002g0112 others(6): Show a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0002g0112 a0001c0001t0030g0288 a0002c0002t0001g0142 a0002c0002t0001g0158 a0002c0002t0002g0138 a0002c0004t0002g0145 a0004c0012t0002g0146	9	292	0.0308	36	c.-27 others(55): Show c.-27+19519_-27+19520insTATATATATATATATATATATATATA TATATATATA	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	2/13			chr7	TogoVar
CALML3_chr10_5519961_5531771	5521239	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG02293.hp1 NA18949.hp2 HG01934.hp1 HG02293.hp1 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	452	0.0066	36	c.-38 others(47): Show c.-3847_-3846insTATATATATATATATATATATATATATATATATA TG	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3721		chr10	TogoVar
CALML3_chr10_5519961_5531771	5521239	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	452	0.0022	36	c.-38 others(47): Show c.-3847_-3846insTATATATATATATATATATATATATATATATGTA TG	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3721		chr10	TogoVar
CALML3_chr10_5519961_5531771	5521241	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	452	0.0022	36	c.-38 others(47): Show c.-3845_-3844insTATATATATATATATATATATATATATATATATA TG	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3719		chr10	TogoVar
CALML3_chr10_5519961_5531771	5521241	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0000 a0001c0002t0018g0000	1	452	0.0022	36	c.-38 others(47): Show c.-3845_-3844insTATATATATATATATATATATATATATATATATG TG	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3719		chr10	TogoVar
CALN1_chr7_71774491_72417338	71922557	G G	GAATATAT others(29): Show GAATATATTATATATAAATATATAACACACAGAATGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02055.hp2 HG02257.hp2 others(13): Show HG00639.hp1 HG02055.hp2 HG02257.hp2 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG03195.hp2 HG03453.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0054 a0001c0001t0060	a0001c0001t0001g0061 a0001c0001t0001g0116 a0001c0001t0002g0113 others(13): Show a0001c0001t0001g0061 a0001c0001t0001g0116 a0001c0001t0002g0113 a0001c0001t0002g0118 a0001c0001t0003g0065 a0001c0001t0008g0067 a0001c0001t0009g0029 a0001c0001t0010g0104 a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0001t0017g0035 a0001c0001t0036g0112 a0001c0001t0037g0072 a0001c0001t0039g0030 a0001c0001t0054g0136 a0001c0001t0060g0141	16	142	0.1127	36	c.501 others(57): Show c.501+101099_501+101100insACATTCTGTGTGTTATATATTTAT ATATAATATATT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72016998	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0042 a0001c0001t0015g0042	1	142	0.0070	36	c.501 others(53): Show c.501+6658_501+6659insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72209402	T T	TTCCCTCT others(29): Show TTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19240.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0041 a0001c0001t0039 a0001c0001t0041	a0001c0001t0039g0030 a0001c0001t0041g0069 a0001c0001t0039g0030 a0001c0001t0041g0069	2	142	0.0141	36	c.244 others(55): Show c.244+69283_244+69284insGGGAAGGAAAGAGGGAAGGAGGGAAG GAAAGAGGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271573	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0060 a0001c0001t0019g0060	1	142	0.0070	36	c.244 others(53): Show c.244+7112_244+7113insATATATATATATATATATATATATATAT ATATATAT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0130 a0001c0001t0049g0130	1	142	0.0070	36	c.244 others(53): Show c.244+7110_244+7111insATATATATATATATATTTTTTTTTTTTT TTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(29): Show AAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	142	0.0070	36	c.244 others(53): Show c.244+7110_244+7111insATATATATATATATATATATATATATAT ATTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0010	1	142	0.0070	36	c.244 others(53): Show c.244+7110_244+7111insATATATATATATATATATATATATATAT ATATATAT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72338525	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0114 a0001c0001t0010g0114	1	142	0.0070	36	c.120 others(55): Show c.120-59716_120-59715insGACACACACACACACACACACACACA CACACACACA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12541842	T T	TCTTCCTT others(29): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18948.hp1 HG04184.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0110 a0001c0001t0036 a0001c0001t0110	a0001c0001t0036g0022 a0001c0001t0110g0150 a0001c0001t0036g0022 a0001c0001t0110g0150	2	214	0.0094	36	c.93- others(53): Show c.93-11371_93-11336dupCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12623279	T T	TCTTTCCC others(29): Show TCTTTCCCTCCTTCCTCCCTCCCTCTCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA19091.hp1 NA18990.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0086 a0001c0001t0001 a0001c0001t0086	a0001c0001t0001g0071 a0001c0001t0086g0181 a0001c0001t0001g0071 a0001c0001t0086g0181	2	214	0.0094	36	c.225 others(55): Show c.225-43456_225-43455insTTTCCCTCCTTCCTCCCTCCCTCTCT CCCTCCCTCC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12623341	T T	TTTCCTTC others(29): Show TTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCTTTCC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0132 a0001c0001t0012g0132	1	214	0.0047	36	c.225 others(55): Show c.225-43390_225-43389insTCCTTCCTCCCTCCCTCCCTCCCTTC TTTCCTTCCT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12827464	G G	GTCTTTCT others(29): Show GTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02735.hp2 HG02630.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0002t0004 a0001c0001t0019 a0001c0002t0004	a0001c0001t0019g0084 a0001c0002t0004g0171 a0001c0001t0019g0084 a0001c0002t0004g0171	2	214	0.0094	36	c.104 others(55): Show c.1040-1302_1040-1301insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr10	TogoVar

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