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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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	36706192	C C	CTTCTTCT others(21): Show CTTCTTCTTCTTCTCCCTCTTCTTTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0099 a0001c0001t0053g0099	1	214	0.0047	28	c.-36 others(39): Show c.-3617_-3616insAGAAAAAGAAGAGGGAGAAGAAGAAGAA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		2441		chr22	TogoVar
CACNG3_chr16_24251335_24367412	24312955	G G	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	366	0.0027	28	c.212 others(47): Show c.212-33778_212-33777insAAGAAAGAAAGAAAGAAAGAAAGAGA AA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24313073	G G	GAGGAAGG others(21): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03516.hp1 HG02976.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0209 a0001c0001t0003g0224 a0001c0001t0001g0209 a0001c0001t0003g0224	2	366	0.0055	28	c.212 others(47): Show c.212-33650_212-33623dupGAAGGAAGGAAGGAAGGAAGGAAGGA AG	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG5_chr17_66830117_66899751	66838960	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG01256.hp2 others(2): Show HG00639.hp1 HG01074.hp2 HG01256.hp2 HG01258.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0122 a0001c0001t0123 others(1): Show a0001c0001t0028 a0001c0001t0122 a0001c0001t0123 a0001c0001t0125	a0001c0001t0028g0020 a0001c0001t0122g0294 a0001c0001t0123g0293 others(1): Show a0001c0001t0028g0020 a0001c0001t0122g0294 a0001c0001t0123g0293 a0001c0001t0125g0292	5	372	0.0134	28	c.-10 others(47): Show c.-104+3729_-104+3730insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CACNG5	ENSG00000075429.9	transcript	ENST00000533854.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNG6_chr19_53986637_54017666	54006517	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0002 a0004c0011t0002	a0004c0011t0002g0261 a0004c0011t0002g0261	1	430	0.0023	28	c.545 others(45): Show c.545-5430_545-5429insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	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(21): Show AAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02273.hp2 HG01358.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0385 a0001c0001t0007g0393 a0001c0001t0007g0385 a0001c0001t0007g0393	2	430	0.0047	28	c.545 others(43): Show c.545-745_545-744insAAAAAATATATATATATATATATATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19063.hp1 NA18947.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0390 a0001c0001t0007g0389 a0001c0001t0001g0390 a0001c0001t0007g0389	2	430	0.0047	28	c.545 others(43): Show c.545-745_545-744insAAAATATATATATATATATATATATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54011227	T T	TATATATA others(21): Show TATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18951.hp2 HG00673.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0066 a0001c0001t0002g0068	2	430	0.0047	28	c.545 others(43): Show c.545-723_545-722insTATATATATATATATATATACACACACA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54015396	T T	TTCCTTTC others(21): Show TTCCTTTCCTTCCTTCCTTCCTTCCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01884.hp2 HG01255.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0013 a0001c0001t0012 a0001c0001t0013	a0001c0001t0012g0237 a0001c0001t0013g0077 a0001c0001t0012g0237 a0001c0001t0013g0077	2	430	0.0047	28	c.32 others(39): Show c.3207_*3208insTCCTTTCCTTCCTTCCTTCCTTCCTTCC	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		2731		chr19	TogoVar
CACNG6_chr19_53986637_54017666	54016548	T T	TAACATAG others(21): Show TAACATAGATTGATCAGAAGTGGGAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0270 a0005c0008t0002g0270	1	430	0.0023	28	c.43 others(39): Show c.4359_*4360insAACATAGATTGATCAGAAGTGGGAGAAG	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		3883		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53921768	T T	TCCCAGGT others(21): Show TCCCAGGTCTGGTCATTGGTGGAGTTGTC	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19240.hp2 HG02886.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0278 a0001c0001t0001g0280	2	364	0.0055	28	c.424 others(45): Show c.424+6290_424+6317dupTCCCCAGGTCTGGTCATTGGTGGAGTTG	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53921991	C C	CCTGGTCA others(21): Show CCTGGTCATTGGTGGAGTTGTCCCCAGGT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	364	0.0028	28	c.424 others(45): Show c.424+6514_424+6541dupTCTGGTCATTGGTGGAGTTGTCCCCAGG	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53922213	T T	TATTGGTG others(21): Show TATTGGTGGAGTTGTCCCCAGGTCTGGTC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	364	0.0028	28	c.424 others(45): Show c.424+6744_424+6771dupGAGTTGTCCCCAGGTCTGGTCATTGGTG	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53922317	T T	TCTGGTCA others(21): Show TCTGGTCATTGGTGGAGTTGTCCCCAGGC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0321 a0001c0001t0002g0321	1	364	0.0028	28	c.424 others(45): Show c.424+6892_424+6919dupCAGGCCTGGTCATTGGTGGAGTTGTCCC	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53922608	T T	TCCCAGGC others(21): Show TCCCAGGCCTGGTCATTGGTGCAGTTGTC	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	364	0.0028	28	c.424 others(45): Show c.424+7134_424+7161dupCAGGCCTGGTCATTGGTGCAGTTGTCCC	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CADM1_chr11_115164236_115509415	115340658	A A	ATATATAT others(21): Show ATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0006 a0001c0001t0011g0006	1	164	0.0061	28	c.125 others(49): Show c.125-100239_125-100238insAAAAAAAAAAAATATATATATATA TATA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM2_chr3_84953989_86079429	85014183	T T	TTGTATAT others(21): Show TTGTATATTATATATACGCAGTGTAATAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0002 a0001c0001t0052g0002	1	146	0.0069	28	c.61+ others(45): Show c.61+54523_61+54550dupTATATATACGCAGTGTAATAATGTATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85034790	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG04204.hp2 HG03710.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0099 a0001c0001t0004g0105 a0001c0001t0001g0099 a0001c0001t0004g0105	2	146	0.0137	28	c.61+ others(45): Show c.61+75146_61+75147insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85354618	C C	CAGAGAGA others(21): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01884.hp2 HG02886.hp1 others(2): Show HG00621.hp2 HG01884.hp2 HG02886.hp1 HG03834.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0015 a0001c0001t0028 others(2): Show a0001c0001t0010 a0001c0001t0015 a0001c0001t0028 a0001c0001t0037 a0001c0002t0007	a0001c0001t0010g0067 a0001c0001t0015g0076 a0001c0001t0028g0122 others(2): Show a0001c0001t0010g0067 a0001c0001t0015g0076 a0001c0001t0028g0122 a0001c0001t0037g0054 a0001c0002t0007g0095	5	146	0.0343	28	c.62- others(47): Show c.62-371879_62-371878insGAGAGAGAGAGAGAGAGAGAGAGAGA GA	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(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0035 a0001c0001t0018g0035	1	146	0.0069	28	c.62- others(47): Show c.62-294650_62-294649insATATATATATATATATATATATATAT AT	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(21): Show CATATGTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02630.hp2 NA19009.hp2 HG01074.hp2 HG02630.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0044 a0001c0001t0002 a0001c0001t0003 a0001c0001t0044	a0001c0001t0002g0019 a0001c0001t0003g0113 a0001c0001t0044g0041 a0001c0001t0002g0019 a0001c0001t0003g0113 a0001c0001t0044g0041	3	146	0.0206	28	c.62- others(47): Show c.62-294658_62-294657insGTATATATATATATATATATATATAT AT	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(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG04228.hp1 NA18984.hp2 others(1): Show HG02622.hp2 HG04228.hp1 NA18984.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 others(1): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 a0001c0002t0016	a0001c0001t0003g0050 a0001c0001t0009g0037 a0001c0001t0012g0086 others(1): Show a0001c0001t0003g0050 a0001c0001t0009g0037 a0001c0001t0012g0086 a0001c0002t0016g0051	4	146	0.0274	28	c.62- others(47): Show c.62-184748_62-184747insATATATATATATATATATATATATAT AT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85543420	A A	ATGTGTGT others(21): Show ATGTGTGTGGGGGTGTGTGTGTGTGTGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01361.hp1 HG01515.hp1 others(3): Show HG00140.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0005 a0001c0001t0022 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0022 a0001c0004t0001	a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0005g0061 others(3): Show a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0005g0061 a0001c0001t0022g0081 a0001c0001t0022g0087 a0001c0004t0001g0111	6	146	0.0411	28	c.62- others(47): Show c.62-183094_62-183093insGGGGTGTGTGTGTGTGTGGGTGTGTG TG	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85543420	A A	ATGTGTGT others(21): Show ATGTGTGTGGGGGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	146	0.0069	28	c.62- others(47): Show c.62-183094_62-183093insGGGGTGTGTGTGTGTGTGTGTGTGTG TG	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85568473	C C	CTCTCTCT others(21): Show CTCTCTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0095 a0001c0002t0007g0095	1	146	0.0069	28	c.62- others(47): Show c.62-158046_62-158045insCTCTTTCTTTCTTTCTTTCTTTCTTT CT	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(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02280.hp1 HG02622.hp1 others(2): Show HG01099.hp1 HG02280.hp1 HG02622.hp1 NA19009.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0025	a0001c0001t0002g0001 a0001c0001t0002g0048 a0001c0001t0003g0092 others(2): Show a0001c0001t0002g0001 a0001c0001t0002g0048 a0001c0001t0003g0092 a0001c0001t0012g0129 a0001c0001t0025g0132	5	146	0.0343	28	c.62- others(47): Show c.62-158034_62-158007dupTTTCTTTCTTTCTTTCTTTCTTTCTT TC	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(21): Show TCTTTCTTTCTTTCTTTCTTTCTTTCCTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0118 a0001c0001t0014g0118	1	146	0.0069	28	c.62- others(47): Show c.62-158007_62-158006insTTTCTTTCTTTCTTTCTTTCTTTCCT CC	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(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18952.hp1 NA19060.hp1 HG04228.hp1 NA18952.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0047 a0001c0001t0003 a0001c0001t0009 a0001c0001t0047	a0001c0001t0003g0050 a0001c0001t0009g0008 a0001c0001t0047g0038 a0001c0001t0003g0050 a0001c0001t0009g0008 a0001c0001t0047g0038	3	146	0.0206	28	c.62- others(47): Show c.62-148519_62-148492dupCCTTCCTTCCTTCCTTCCTTCCTTCC TT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85769109	T T	TAGTATAT others(21): Show TAGTATATATACACATATATACATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0142 a0001c0001t0038g0142	1	146	0.0069	28	c.89- others(45): Show c.89-32938_89-32937insAGTATATATACACATATATACATATATA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9			chr3	TogoVar
CADM2_chr3_84953989_86079429	85898955	A A	ATATATAT others(21): Show ATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0098 a0001c0002t0016g0098	1	146	0.0069	28	c.529 others(47): Show c.529+12629_529+12630insATATATATATATATATTTTTTTTTTT TT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122315272	G G	GCTCTCTC others(21): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0023 a0001c0003t0002g0023	1	126	0.0079	28	c.48 others(39): Show c.4892_*4893insAGAGAGAGAGAGAGAGAGAGAGAGAGAG	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding		3138		chr7	TogoVar
CADPS2_chr7_122313411_122891460	122351372	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	126	0.0079	28	c.350 others(47): Show c.3505-5719_3505-5692dupTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	27/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122579450	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03130.hp2 HG03486.hp1 HG01167.hp1 HG03130.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0004 a0001c0004t0002 a0001c0001t0001 a0001c0002t0004 a0001c0004t0002	a0001c0001t0001g0071 a0001c0002t0004g0067 a0001c0004t0002g0093 a0001c0001t0001g0071 a0001c0002t0004g0067 a0001c0004t0002g0093	3	126	0.0238	28	c.133 others(47): Show c.1335+1701_1335+1728dupATATATATATATATATATATATATAT AT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	7/29			chr7	TogoVar
CADPS_chr3_62393348_62880416	62648691	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	160	0.0063	28	c.120 others(47): Show c.1203+2155_1203+2156insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	5/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62731805	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18522.hp2 HG03654.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0006g0005 a0001c0002t0001g0117 a0001c0001t0006g0005 a0001c0002t0001g0117	2	160	0.0125	28	c.888 others(47): Show c.888+21635_888+21636insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	3/29			chr3	TogoVar
CAGE1_chr6_7321659_7394742	7358027	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0293 a0001c0001t0002g0293	1	360	0.0028	28	c.219 others(47): Show c.2194-1926_2194-1899dupATATATATATATATATATATATATAT AT	CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	9/13			chr6	TogoVar
CALB2_chr16_71353723_71395433	71366022	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	426	0.0024	28	c.95- others(43): Show c.95-6130_95-6129insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALB2_chr16_71353723_71395433	71366024	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02559.hp1 HG03579.hp1 HG02293.hp2 HG02559.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0360 a0002c0002t0001g0259 a0002c0002t0001g0260 a0001c0001t0001g0360 a0002c0002t0001g0259 a0002c0002t0001g0260	3	426	0.0070	28	c.95- others(43): Show c.95-6109_95-6108insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0323 a0003c0003t0004g0323	1	328	0.0031	28	c.912 others(45): Show c.912+1385_912+1386insATATATATATATATATATATTTTTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48857497	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00609.hp2 others(18): Show HG00423.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG01255.hp1 HG01952.hp1 HG01952.hp2 HG02015.hp2 HG02071.hp1 HG02135.hp1 HG02155.hp1 HG02300.hp1 HG02886.hp2 HG03239.hp1 HG03492.hp2 NA18612.hp2 NA18944.hp2 NA18966.hp1 NA19010.hp2 NA19074.hp1 NA20129.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0002c0002t0013 a0003c0003t0001 a0002c0002t0001 a0002c0002t0013 a0003c0003t0001	a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0001g0179 others(18): Show a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0001g0179 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0186 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0001g0193 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0223 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0013g0215 a0002c0002t0013g0217 a0003c0003t0001g0250	21	328	0.0640	28	c.100 others(47): Show c.1008+1333_1008+1334insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	ATAGAATA others(21): Show ATAGAATAGAATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0051 a0003c0003t0001g0051	1	328	0.0031	28	c.100 others(47): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AG	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12			chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48861659	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02647.hp1 HG02809.hp1 others(2): Show HG02559.hp2 HG02647.hp1 HG02809.hp1 HG02897.hp2 HG03516.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0012 a0004c0004t0005 a0004c0004t0012	a0004c0004t0005g0104 a0004c0004t0005g0108 a0004c0004t0005g0113 others(2): Show a0004c0004t0005g0104 a0004c0004t0005g0108 a0004c0004t0005g0113 a0004c0004t0005g0115 a0004c0004t0012g0098	5	328	0.0152	28	c.114 others(45): Show c.1145-616_1145-615insATATATATATATATATATATATATATAT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48867569	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAACACACACACACAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0019 a0004c0004t0019	a0004c0004t0019g0100 a0004c0004t0019g0100	1	328	0.0031	28	c.45 others(39): Show c.4564_*4565insAAAAAAAAAAAACACACACACACAAAAT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding		2325		chr17	TogoVar
CALCR_chr7_93419486_93579724	93460595	A A	ACATATAT others(21): Show ACATATATATATATGTATATATATATATG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02922.hp2 HG03195.hp2 others(1): Show HG01081.hp2 HG02922.hp2 HG03195.hp2 HG03927.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0008 a0002c0004 others(1): Show a0001c0001 a0001c0008 a0002c0004 a0004c0012	a0001c0001t0002 a0001c0008t0026 a0002c0004t0002 others(1): Show a0001c0001t0002 a0001c0008t0026 a0002c0004t0002 a0004c0012t0002	a0001c0001t0002g0243 a0001c0008t0026g0144 a0002c0004t0002g0145 others(1): Show a0001c0001t0002g0243 a0001c0008t0026g0144 a0002c0004t0002g0145 a0004c0012t0002g0146	4	292	0.0137	28	c.648 others(43): Show c.648+225_648+226insCATATATATATATACATATATATATATG	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	8/13			chr7	TogoVar
CALCR_chr7_93419486_93579724	93532838	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02970.hp1 NA19043.hp2 HG02451.hp2 HG02970.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0008t0016 a0001c0001t0001 a0001c0001t0002 a0001c0008t0016	a0001c0001t0001g0163 a0001c0001t0002g0164 a0001c0008t0016g0165 a0001c0001t0001g0163 a0001c0001t0002g0164 a0001c0008t0016g0165	3	292	0.0103	28	c.-27 others(47): Show c.-27+41450_-27+41451insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	2/13			chr7	TogoVar
CALCR_chr7_93419486_93579724	93554769	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02004.hp2 HG02559.hp2 others(7): Show HG01884.hp2 HG02004.hp2 HG02559.hp2 HG02572.hp2 HG03139.hp1 HG03209.hp2 HG03942.hp2 HG06807.hp1 NA18612.hp1 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0002c0002t0001 a0002c0002t0002 a0002c0004t0001	a0001c0001t0001g0121 a0001c0001t0003g0108 a0001c0001t0009g0237 others(7): Show a0001c0001t0001g0121 a0001c0001t0003g0108 a0001c0001t0009g0237 a0001c0001t0011g0272 a0001c0001t0013g0276 a0002c0002t0001g0021 a0002c0002t0001g0071 a0002c0002t0001g0282 a0002c0002t0002g0151 a0002c0004t0001g0283	10	292	0.0343	28	c.-27 others(47): Show c.-27+19519_-27+19520insTATATATATATATATATATATATATA TA	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	2/13			chr7	TogoVar
CALM2_chr2_47155084_47181511	47167814	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02004.hp2 HG03017.hp2 others(3): Show HG01943.hp2 HG02004.hp2 HG03017.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 others(3): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057	6	432	0.0139	28	c.34+ others(43): Show c.34+2919_34+2920insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CALM2	ENSG00000143933.20	transcript	ENST00000272298.12	protein_coding	2/5			chr2	TogoVar
CALM2_chr2_47155084_47181511	47167817	T T	TTTTTTTT others(21): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	432	0.0023	28	c.34+ others(43): Show c.34+2916_34+2917insCAAAAAAAAAAAAAAAAAAAAAAAAAAA	CALM2	ENSG00000143933.20	transcript	ENST00000272298.12	protein_coding	2/5			chr2	TogoVar
CALML3_chr10_5519961_5531771	5521223	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00639.hp1 HG01993.hp1 others(24): Show HG00609.hp1 HG00639.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02056.hp1 HG02083.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02818.hp2 HG02965.hp1 HG02976.hp2 HG03130.hp1 NA18612.hp2 NA18747.hp2 NA18953.hp2 NA18957.hp1 NA18969.hp2 NA18977.hp1 NA18980.hp2 NA18986.hp1 NA19003.hp2 NA19065.hp1 NA19074.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0014	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 others(5): Show a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0026g0000 a0001c0002t0001g0000 a0001c0002t0002g0000 a0001c0002t0003g0000 a0001c0002t0014g0000	27	452	0.0597	28	c.-38 others(39): Show c.-3863_-3862insTATATATATATATATATATATATATATA	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3737		chr10	TogoVar
CALML3_chr10_5519961_5531771	5521223	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19077.hp2 NA19010.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	2	452	0.0044	28	c.-38 others(39): Show c.-3863_-3862insTGTATATATATATATATATATATATATA	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3737		chr10	TogoVar

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