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
CACNB2_chr10_18135424_18548557	18536243	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02818.hp2 HG01243.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0048 a0001c0001t0021g0060 a0001c0001t0001g0048 a0001c0001t0021g0060	2	200	0.0100	29	c.130 others(44): Show c.1302+49_1302+77dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18464418	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01934.hp1 HG03710.hp1 others(6): Show HG00423.hp1 HG01934.hp1 HG03710.hp1 HG04199.hp2 NA18953.hp1 NA18953.hp2 NA18982.hp1 NA18985.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0001t0001 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0223 a0001c0001t0001g0284 a0001c0002t0002g0183 others(6): Show a0001c0001t0001g0223 a0001c0001t0001g0284 a0001c0002t0002g0183 a0001c0002t0004g0068 a0001c0002t0004g0099 a0001c0002t0004g0191 a0001c0002t0004g0199 a0001c0002t0004g0283 a0001c0002t0004g0301	9	302	0.0298	29	c.172 others(48): Show c.172-33915_172-33914insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18464418	T T	TAAAATAA others(22): Show TAAAATAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0080 a0001c0002t0050g0080	1	302	0.0033	29	c.172 others(48): Show c.172-33933_172-33932insTAAAAAAAAAAAAAAAAAAAAAAAAA AAA	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18536243	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02818.hp2 NA18945.hp2 others(1): Show HG01243.hp1 HG02818.hp2 NA18945.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0027 a0001c0001t0001g0130 a0001c0001t0001g0198 others(1): Show a0001c0001t0001g0027 a0001c0001t0001g0130 a0001c0001t0001g0198 a0001c0001t0015g0019	4	302	0.0133	29	c.114 others(44): Show c.1140+49_1140+77dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB4_chr2_151827771_152104044	151861842	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02135.hp1 NA18939.hp2 others(3): Show HG02056.hp2 HG02135.hp1 NA18939.hp2 NA19055.hp2 NA19079.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0022 a0001c0001t0002 a0001c0001t0010 a0001c0001t0022	a0001c0001t0002g0156 a0001c0001t0010g0109 a0001c0001t0010g0114 others(3): Show a0001c0001t0002g0156 a0001c0001t0010g0109 a0001c0001t0010g0114 a0001c0001t0010g0230 a0001c0001t0022g0041 a0001c0001t0022g0179	6	230	0.0261	29	c.759 others(46): Show c.759-1023_759-1022insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	9/13			chr2	TogoVar
CACNG2_chr22_36555857_36708752	36703781	C C	CTCTCTCT others(22): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0187 a0001c0001t0085g0187	1	214	0.0047	29	c.-12 others(40): Show c.-1206_-1205insAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		30		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703785	C C	CTCTCTCT others(22): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0194 a0001c0001t0090g0194	1	214	0.0047	29	c.-12 others(40): Show c.-1210_-1209insAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		34		chr22	TogoVar
CACNG3_chr16_24251335_24367412	24317643	A A	AAAGAAAG others(22): Show AAAGAAAGAAAGAAAGAAAGGAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	366	0.0027	29	c.212 others(48): Show c.212-29089_212-29088insGAAAGAAAGAAAGAAAGGAAAAGAAA GAA	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(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01255.hp2 NA18959.hp1 others(1): Show HG01074.hp1 HG01255.hp2 NA18959.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0021 a0001c0001t0028 others(1): Show a0001c0001t0005 a0001c0001t0021 a0001c0001t0028 a0001c0001t0121	a0001c0001t0005g0200 a0001c0001t0021g0199 a0001c0001t0028g0295 others(1): Show a0001c0001t0005g0200 a0001c0001t0021g0199 a0001c0001t0028g0295 a0001c0001t0121g0296	4	372	0.0108	29	c.-10 others(48): Show c.-104+3729_-104+3730insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	CACNG5	ENSG00000075429.9	transcript	ENST00000533854.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0062 a0001c0001t0009g0062	1	430	0.0023	29	c.545 others(44): Show c.545-745_545-744insAAAAATATATATATATATATATATATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CADM1_chr11_115164236_115509415	115340658	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0004 a0001c0001t0015g0004	1	164	0.0061	29	c.125 others(50): Show c.125-100239_125-100238insAAAAAAAAAAATATATATATATAT ATATA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115340658	A A	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0005 a0001c0001t0011g0005	1	164	0.0061	29	c.125 others(50): Show c.125-100239_125-100238insAAAAAAAAAAAAATATATATATAT ATATA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0121	1	146	0.0069	29	c.62- others(48): Show c.62-366855_62-366854insATATATATATATATATATATATATAT ATT	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(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	146	0.0069	29	c.62- others(48): Show c.62-366855_62-366854insATATATATATATATATATATATATTT TTT	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(22): Show ATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18982.hp2 HG03710.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0105 a0001c0001t0005g0083 a0001c0001t0004g0105 a0001c0001t0005g0083	2	146	0.0137	29	c.62- others(48): Show c.62-366855_62-366854insATATATATATATATATATATTTTTTT TTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATGTATAT others(22): Show ATGTATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	146	0.0069	29	c.62- others(48): Show c.62-366855_62-366854insGTATATATATATATATATATATTTTT TTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85898955	A A	ATATATAT others(22): Show ATATATATATATATATGTATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0096 a0001c0002t0048g0096	1	146	0.0069	29	c.529 others(48): Show c.529+12629_529+12630insATATATATATATATGTATTTTTTTTT TTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122315296	T T	TCTCTCTC others(22): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01192.hp2 HG00609.hp1 HG01192.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0013 a0001c0004t0002g0033 a0001c0004t0002g0013 a0001c0004t0002g0033	2	126	0.0159	29	c.48 others(40): Show c.4868_*4869insGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding		3114		chr7	TogoVar
CADPS2_chr7_122313411_122891460	122315298	T T	TCTCTCTC others(22): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	126	0.0079	29	c.48 others(40): Show c.4866_*4867insGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding		3112		chr7	TogoVar
CADPS2_chr7_122313411_122891460	122447543	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0082 a0001c0003t0002g0082	1	126	0.0079	29	c.228 others(48): Show c.2288+3830_2288+3831insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	15/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122508449	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	126	0.0079	29	c.154 others(48): Show c.1542+4771_1542+4799dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	9/29			chr7	TogoVar
CADPS_chr3_62393348_62880416	62731805	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG02809.hp2 others(2): Show HG00438.hp1 HG00621.hp1 HG02809.hp2 HG04184.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0141 others(2): Show a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0141 a0001c0002t0001g0008 a0001c0002t0001g0138	5	160	0.0313	29	c.888 others(48): Show c.888+21635_888+21636insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	3/29			chr3	TogoVar
CALB2_chr16_71353723_71395433	71366024	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0361 a0001c0001t0001g0361	1	426	0.0024	29	c.95- others(44): Show c.95-6109_95-6108insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALCOCO2_chr17_48826035_48870245	48827159	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0034 a0003c0003t0001g0034	1	328	0.0031	29	c.-39 others(40): Show c.-3930_-3929insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding		3875		chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 homoSapiens_chm13v2.hp1 HG02622.hp2 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0004 a0003c0003t0001 a0003c0003t0004	a0003c0003t0001g0057 a0003c0003t0004g0324 a0003c0003t0001g0057 a0003c0003t0004g0324	2	328	0.0061	29	c.912 others(46): Show c.912+1385_912+1386insATATATATATATATATATATATATTTTT T	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(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0138 a0003c0003t0004g0138	1	328	0.0031	29	c.912 others(46): Show c.912+1385_912+1386insATATATATATATATATATATATTTTTTT T	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(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02155.hp2 HG02165.hp2 others(8): Show HG00673.hp2 HG02155.hp2 HG02165.hp2 HG04184.hp1 NA18940.hp2 NA18947.hp1 NA18953.hp1 NA18968.hp2 NA18980.hp1 NA19066.hp2 NA19067.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0007 a0002c0002t0001 a0002c0002t0007	a0002c0002t0001g0147 a0002c0002t0001g0180 a0002c0002t0001g0192 others(8): Show a0002c0002t0001g0147 a0002c0002t0001g0180 a0002c0002t0001g0192 a0002c0002t0001g0198 a0002c0002t0001g0207 a0002c0002t0001g0212 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0306 a0002c0002t0007g0185 a0002c0002t0007g0197	11	328	0.0335	29	c.100 others(48): Show c.1008+1333_1008+1334insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCR_chr7_93419486_93579724	93460572	A A	ATATATAT others(22): Show ATATATATATATATATATACATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0023 a0002c0010t0002g0023	1	292	0.0034	29	c.648 others(44): Show c.648+248_648+249insATATATATATGTATATATATATATATATA	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	8/13			chr7	TogoVar
CALM2_chr2_47155084_47181511	47167693	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	432	0.0023	29	c.34+ others(44): Show c.34+3012_34+3040dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CALM2	ENSG00000143933.20	transcript	ENST00000272298.12	protein_coding	2/5			chr2	TogoVar
CALM2_chr2_47155084_47181511	47167814	C C	CCTTTTTT others(22): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0384 a0001c0001t0001g0384	1	432	0.0023	29	c.34+ others(44): Show c.34+2919_34+2920insAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	CALM2	ENSG00000143933.20	transcript	ENST00000272298.12	protein_coding	2/5			chr2	TogoVar
CALM2_chr2_47155084_47181511	47167814	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp2 HG01952.hp2 others(3): Show HG00642.hp1 HG01074.hp2 HG01952.hp2 HG02451.hp2 HG02615.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0058 others(3): Show a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0089	6	432	0.0139	29	c.34+ others(44): Show c.34+2919_34+2920insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CALM2	ENSG00000143933.20	transcript	ENST00000272298.12	protein_coding	2/5			chr2	TogoVar
CALML3_chr10_5519961_5531771	5521246	T T	TATATATA others(22): Show TATATATATATATATATATATATGTATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0000 a0001c0002t0003g0000	1	452	0.0022	29	c.-38 others(40): Show c.-3840_-3839insATATATATATATATATATATATGTATATC	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3714		chr10	TogoVar
CALN1_chr7_71774491_72417338	71972016	A A	AAAGAAAG others(22): Show AAAGAAAGAAAGAGAAAGAAAGAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0141 a0001c0001t0060g0141	1	142	0.0070	29	c.501 others(48): Show c.501+51640_501+51641insCTTTTTTTCTTTCTTTCTCTTTCTTT CTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72016998	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	142	0.0070	29	c.501 others(46): Show c.501+6658_501+6659insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72205551	A A	AAATATAT others(22): Show AAATATATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01361.hp2 HG02129.hp1 others(7): Show HG00438.hp2 HG01361.hp2 HG02129.hp1 HG02735.hp1 HG02809.hp1 NA18962.hp1 NA18962.hp2 NA18975.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0016 a0001c0001t0017 others(6): Show a0001c0001t0006 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0028 a0001c0001t0035 a0001c0001t0039 a0001c0001t0042 a0001c0001t0051	a0001c0001t0006g0018 a0001c0001t0016g0032 a0001c0001t0017g0028 others(7): Show a0001c0001t0006g0018 a0001c0001t0016g0032 a0001c0001t0017g0028 a0001c0001t0020g0077 a0001c0001t0020g0078 a0001c0001t0028g0013 a0001c0001t0035g0091 a0001c0001t0039g0030 a0001c0001t0042g0052 a0001c0001t0051g0132	10	142	0.0704	29	c.244 others(48): Show c.244+73134_244+73135insATATATATATATATATATATGTATAT ATT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02080.hp1 HG02896.hp1 others(1): Show HG01361.hp1 HG02080.hp1 HG02896.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0016 a0001c0001t0001 a0001c0001t0008 a0001c0001t0016	a0001c0001t0001g0033 a0001c0001t0001g0107 a0001c0001t0008g0040 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0107 a0001c0001t0008g0040 a0001c0001t0016g0081	4	142	0.0282	29	c.244 others(46): Show c.244+7110_244+7111insATATATATATATATATTTTTTTTTTTTT T	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01346.hp1 HG02523.hp2 others(1): Show HG00639.hp2 HG01346.hp1 HG02523.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008	a0001c0001t0004g0071 a0001c0001t0005g0007 a0001c0001t0005g0012 others(1): Show a0001c0001t0004g0071 a0001c0001t0005g0007 a0001c0001t0005g0012 a0001c0001t0008g0067	4	142	0.0282	29	c.244 others(46): Show c.244+7110_244+7111insATATATATATATATATATTTTTTTTTTT T	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0076 a0001c0001t0032g0076	1	142	0.0070	29	c.244 others(46): Show c.244+7110_244+7111insATATATATATATATATATATATTTTTTT T	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALU_chr7_128734359_128778400	128768847	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0266 a0001c0001t0010g0266	1	338	0.0030	29	c.844 others(44): Show c.844-195_844-194insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CALU	ENSG00000128595.17	transcript	ENST00000249364.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12623247	T T	TTCTTTCC others(22): Show TTCTTTCCTTCCTCCCTCCCTCCGTCCCTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00735.hp1 others(26): Show HG00323.hp2 HG00642.hp1 HG00735.hp1 HG01074.hp2 HG01261.hp1 HG01346.hp1 HG01975.hp2 HG02165.hp1 HG02280.hp1 HG02602.hp1 HG02698.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG03098.hp1 HG03927.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18942.hp1 NA18953.hp1 NA18955.hp2 NA18959.hp2 NA18983.hp1 NA19012.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0022 a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 a0001c0001t0038 a0001c0001t0039 a0001c0001t0062 a0001c0001t0069 a0001c0001t0071 a0001c0001t0082 a0001c0001t0095 a0001c0001t0101 a0001c0001t0106 a0001c0002t0015 a0001c0002t0063 a0001c0002t0066 a0001c0002t0073	a0001c0001t0001g0056 a0001c0001t0001g0076 a0001c0001t0002g0177 others(26): Show a0001c0001t0001g0056 a0001c0001t0001g0076 a0001c0001t0002g0177 a0001c0001t0002g0206 a0001c0001t0003g0004 a0001c0001t0003g0012 a0001c0001t0005g0189 a0001c0001t0007g0068 a0001c0001t0012g0169 a0001c0001t0013g0120 a0001c0001t0017g0159 a0001c0001t0017g0198 a0001c0001t0022g0070 a0001c0001t0026g0143 a0001c0001t0028g0099 a0001c0001t0031g0168 a0001c0001t0038g0049 a0001c0001t0039g0157 a0001c0001t0062g0144 a0001c0001t0069g0044 a0001c0001t0071g0121 a0001c0001t0082g0067 a0001c0001t0095g0149 a0001c0001t0101g0156 a0001c0001t0106g0109 a0001c0002t0015g0069 a0001c0002t0063g0201 a0001c0002t0066g0097 a0001c0002t0073g0058	29	214	0.1355	29	c.225 others(48): Show c.225-43489_225-43488insTCTTTCCTTCCTCCCTCCCTCCGTCC CTC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10			chr10	TogoVar
CAMK2G_chr10_73807501_73879555	73820493	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	280	0.0036	29	c.125 others(46): Show c.1250-849_1250-848insTATATATATATATATATATATATATATA T	CAMK2G	ENSG00000148660.22	transcript	ENST00000423381.6	protein_coding	18/22			chr10	TogoVar
CAMKMT_chr2_44356947_44777592	44614936	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	198	0.0051	29	c.377 others(48): Show c.377-89323_377-89322insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMTA1_chr1_6780454_7774706	7276303	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp1 HG02647.hp1 HG02723.hp1	a0001 a0001	a0001c0005 a0001c0017 a0001c0005 a0001c0017	a0001c0005t0009 a0001c0017t0026 a0001c0005t0009 a0001c0017t0026	a0001c0005t0009g0050 a0001c0017t0026g0027 a0001c0005t0009g0050 a0001c0017t0026g0027	2	58	0.0345	29	c.438 others(48): Show c.438+26678_438+26679insATATATATATATATATATTTTTTTTT TTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7337587	G G	GTGTGGGC others(22): Show GTGTGGGCGGTGAGCCTCATCCAATCACAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0038 a0001c0001t0005g0038	1	58	0.0172	29	c.438 others(48): Show c.438+87968_438+87969insGGTGAGCCTCATCCAATCACAATGTG GGC	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7337599	G G	AGCCTCAT others(22): Show AGCCTCATCCAATCACAATGTGGGCGGTGG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02280.hp1 HG02647.hp1 others(4): Show HG02004.hp1 HG02280.hp1 HG02647.hp1 HG02647.hp2 HG03453.hp2 HG03704.hp2 NA20300.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0017 a0007c0008	a0001c0001t0012 a0001c0001t0015 a0001c0002t0001 others(4): Show a0001c0001t0012 a0001c0001t0015 a0001c0002t0001 a0001c0003t0005 a0001c0003t0008 a0001c0017t0026 a0007c0008t0007	a0001c0001t0012g0019 a0001c0001t0015g0037 a0001c0002t0001g0020 others(4): Show a0001c0001t0012g0019 a0001c0001t0015g0037 a0001c0002t0001g0020 a0001c0003t0005g0028 a0001c0003t0008g0032 a0001c0017t0026g0027 a0007c0008t0007g0023	7	58	0.1207	29	c.438 others(48): Show c.438+87972_438+87973insAGCCTCATCCAATCACAATGTGGGCG GTG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22			chr1	TogoVar
CANT1_chr17_78986716_79014764	79004727	A A	AGGGGGGT others(22): Show AGGGGGGTTAGGGAGGGGGGAGTTAGGGAG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0256 a0001c0001t0004g0256	1	394	0.0025	29	c.-14 others(48): Show c.-147+4936_-147+4937insCTCCCTAACTCCCCCCTCCCTAACCC CCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CAPN11_chr6_44153820_44189401	44181416	C C	CCACACAC others(22): Show CCACACACACACACCCAACCACACCACACT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01261.hp2 HG02300.hp1 others(4): Show HG00323.hp2 HG01261.hp2 HG02300.hp1 HG03491.hp2 HG04199.hp2 HG04228.hp2 NA20905.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0002 a0004c0004t0001 a0004c0004t0002	a0004c0004t0001g0016 a0004c0004t0001g0044 a0004c0004t0001g0122 others(3): Show a0004c0004t0001g0016 a0004c0004t0001g0044 a0004c0004t0001g0122 a0004c0004t0001g0180 a0004c0004t0001g0242 a0004c0004t0002g0235	7	460	0.0152	29	c.193 others(46): Show c.1938+109_1938+110insCCAACCACACCACACTCACACACACACA C	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181418	A A	ACACACAC others(22): Show ACACACACACACACCCAACCACACCACACT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00738.hp1 others(26): Show HG00099.hp1 HG00323.hp1 HG00738.hp1 HG01081.hp1 HG01123.hp2 HG01175.hp1 HG01934.hp1 HG02055.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03540.hp2 HG03669.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA19240.hp1 NA20752.hp2	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0008 a0018	a0001c0001 a0003c0003 a0005c0006 others(2): Show a0001c0001 a0003c0003 a0005c0006 a0008c0008 a0018c0021	a0001c0001t0001 a0003c0003t0002 a0003c0003t0003 others(4): Show a0001c0001t0001 a0003c0003t0002 a0003c0003t0003 a0005c0006t0002 a0005c0006t0003 a0008c0008t0002 a0018c0021t0002	a0001c0001t0001g0195 a0003c0003t0002g0289 a0003c0003t0002g0353 others(26): Show a0001c0001t0001g0195 a0003c0003t0002g0289 a0003c0003t0002g0353 a0003c0003t0002g0423 a0003c0003t0003g0055 a0003c0003t0003g0099 a0003c0003t0003g0101 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0228 a0003c0003t0003g0257 a0003c0003t0003g0308 a0003c0003t0003g0323 a0003c0003t0003g0331 a0003c0003t0003g0334 a0003c0003t0003g0368 a0005c0006t0002g0210 a0005c0006t0002g0211 a0005c0006t0002g0224 a0005c0006t0002g0225 a0005c0006t0002g0288 a0005c0006t0002g0307 a0005c0006t0002g0429 a0005c0006t0002g0430 a0005c0006t0002g0431 a0005c0006t0003g0274 a0005c0006t0003g0294 a0008c0008t0002g0374 a0018c0021t0002g0372	29	460	0.0630	29	c.193 others(46): Show c.1938+111_1938+112insCCAACCACACCACACTCACACACACACA C	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182207	A A	ACACACAC others(22): Show ACACACACACACACACAGACACAACCACAC	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0384 a0002c0002t0001g0384	1	460	0.0022	29	c.193 others(46): Show c.1939-731_1939-730insACACACACACACAGACACAACCACACCA C	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN2_chr1_223707539_223781018	223741436	A A	ATGTGTGT others(22): Show ATGTGTGTATATATATATATATATATAATG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0361 a0001c0003t0001g0361	1	378	0.0027	29	c.308 others(46): Show c.308-2659_308-2658insGTATATATATATATATATATAATGTGTG T	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar

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