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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
CAMSAP1_chr9_135803487_135912546	135850231	C C	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00741.hp2 HG01081.hp1 others(39): Show HG00099.hp1 HG00741.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01884.hp1 HG02109.hp1 HG02109.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp2 HG02683.hp2 HG02735.hp1 HG02809.hp2 HG02922.hp2 HG02970.hp2 HG03195.hp1 HG03239.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 others(5): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0020 a0001c0002t0021 a0001c0002t0031 a0001c0013t0003	a0001c0002t0002g0325 a0001c0002t0003g0016 a0001c0002t0003g0017 others(39): Show a0001c0002t0002g0325 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0018 a0001c0002t0003g0282 a0001c0002t0003g0283 a0001c0002t0003g0286 a0001c0002t0003g0287 a0001c0002t0003g0288 a0001c0002t0003g0289 a0001c0002t0003g0291 a0001c0002t0003g0298 a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0301 a0001c0002t0003g0302 a0001c0002t0003g0303 a0001c0002t0003g0304 a0001c0002t0003g0305 a0001c0002t0004g0003 a0001c0002t0004g0004 a0001c0002t0004g0005 a0001c0002t0004g0006 a0001c0002t0004g0007 a0001c0002t0004g0008 a0001c0002t0004g0009 a0001c0002t0004g0010 a0001c0002t0004g0011 a0001c0002t0004g0012 a0001c0002t0005g0324 a0001c0002t0005g0326 a0001c0002t0005g0327 a0001c0002t0005g0328 a0001c0002t0005g0329 a0001c0002t0005g0330 a0001c0002t0005g0331 a0001c0002t0005g0332 a0001c0002t0020g0306 a0001c0002t0021g0290 a0001c0002t0031g0297 a0001c0013t0003g0284 a0001c0013t0003g0285	42	340	0.1235	0	c.951 others(3): Show c.951G>C	p.Pro others(6): Show p.Pro317Pro	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/17	1338/8018	951/4809	317/1602		chr9	TogoVar
CAMSAP1_chr9_135803487_135912546	135883081	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	340	0.0029	0	c.161 others(5): Show c.161-3T>C		CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	1/16					chr9	TogoVar
CAMSAP2_chr1_200733893_200865704	200807372	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00323.hp1 HG01081.hp2 others(3): Show HG00280.hp1 HG00323.hp1 HG01081.hp2 HG01099.hp1 HG01255.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0041 others(3): Show a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0067	6	366	0.0164	0	c.400 others(5): Show c.400-4T>G		CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	2/16					chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200807545	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	366	0.0027	0	c.561 others(5): Show c.561+8T>A		CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	3/16					chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200832195	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0219 a0001c0001t0009g0219	1	366	0.0027	0	c.646 others(5): Show c.646-5C>T		CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16					chr1	TogoVar
CAMSAP3_chr19_7590863_7623304	7610688	TCCCACCT others(4): Show TCCCACCTCCAG	T T	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18977.hp1 NA18977.hp1	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0001 a0010c0022t0001	a0010c0022t0001g0147 a0010c0022t0001g0147	1	358	0.0028	-11	c.901 others(23): Show c.901-11_901-1delCCCACCTCCAG		CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	6/16					chr19	TogoVar
CAMSAP3_chr19_7590863_7623304	7610801	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp1 HG02647.hp1 HG03041.hp2 others(3): Show HG02257.hp1 HG02647.hp1 HG03041.hp2 HG03209.hp2 HG03579.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0082 a0001c0001t0001g0084 others(3): Show a0001c0001t0001g0020 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0239 a0001c0001t0001g0294	6	358	0.0168	0	c.994 others(5): Show c.994+8C>T		CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	7/16					chr19	TogoVar
CAMSAP3_chr19_7590863_7623304	7611689	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19002.hp2 NA19002.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0172 a0005c0013t0001g0172	1	358	0.0028	0	c.119 others(4): Show c.1196G>A	p.Arg others(6): Show p.Arg399His	CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	11/17	1336/4137	1196/3750	399/1249		chr19	TogoVar
CAMSAP3_chr19_7590863_7623304	7617661	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0255 a0001c0017t0002g0255	1	358	0.0028	0	c.344 others(4): Show c.3444G>A	p.Glu others(7): Show p.Glu1148Glu	CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	16/17	3584/4137	3444/3750	1148/1249		chr19	TogoVar
CAMTA1_chr1_6780454_7774706	7640395	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0057 a0001c0006t0005g0057	1	58	0.0172	0	c.511 others(5): Show c.511-5C>T		CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22					chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7677739	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp1 HG00558.hp2 HG00735.hp1 others(33): Show HG00558.hp1 HG00558.hp2 HG00735.hp1 HG00735.hp2 HG01243.hp1 HG01243.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02132.hp2 HG02257.hp2 HG02280.hp1 HG02523.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG03041.hp2 HG03130.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 NA18999.hp1 NA18999.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0016 a0002c0004 a0003c0012 a0004c0014 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0025 a0001c0002t0001 a0001c0003t0010 a0001c0005t0005 a0001c0006t0001 a0001c0006t0005 a0001c0016t0024 a0002c0004t0011 a0002c0004t0017 a0002c0004t0018 a0003c0012t0022 a0004c0014t0001 a0005c0013t0009	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 others(33): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0036 a0001c0001t0002g0046 a0001c0001t0003g0022 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0004g0026 a0001c0001t0004g0034 a0001c0001t0007g0021 a0001c0001t0011g0058 a0001c0001t0012g0019 a0001c0001t0012g0051 a0001c0001t0013g0054 a0001c0001t0013g0056 a0001c0001t0015g0037 a0001c0001t0020g0049 a0001c0001t0021g0014 a0001c0001t0025g0052 a0001c0002t0001g0020 a0001c0003t0010g0035 a0001c0005t0005g0044 a0001c0006t0001g0055 a0001c0006t0005g0057 a0001c0016t0024g0053 a0002c0004t0011g0005 a0002c0004t0017g0042 a0002c0004t0018g0015 a0003c0012t0022g0017 a0004c0014t0001g0041 a0005c0013t0009g0033	36	58	0.6207	0	c.291 others(6): Show c.2914+6A>G		CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	11/22					chr1	TogoVar
CAND2_chr3_12791680_12839803	12796794	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(138): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01081.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01978.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18946.hp2 NA18947.hp2 NA18953.hp1 NA18956.hp1 NA18964.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18977.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18989.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA19062.hp2 NA19066.hp2 NA19070.hp1 NA19072.hp2 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0003 a0004 others(21): Show a0001 a0003 a0004 a0007 a0008 a0010 a0012 a0017 a0018 a0019 a0022 a0023 a0025 a0026 a0027 a0029 a0030 a0032 a0033 a0034 a0038 a0039 a0040 a0047	a0001c0005 a0001c0007 a0001c0035 others(27): Show a0001c0005 a0001c0007 a0001c0035 a0003c0002 a0003c0024 a0004c0003 a0004c0032 a0004c0041 a0007c0011 a0008c0008 a0010c0012 a0010c0042 a0012c0014 a0017c0019 a0018c0021 a0019c0025 a0022c0027 a0023c0029 a0025c0030 a0026c0045 a0027c0033 a0029c0043 a0030c0040 a0032c0038 a0033c0031 a0034c0044 a0038c0050 a0039c0051 a0040c0058 a0047c0064	a0001c0005t0001 a0001c0007t0001 a0001c0035t0002 others(35): Show a0001c0005t0001 a0001c0007t0001 a0001c0035t0002 a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0003c0002t0004 a0003c0002t0005 a0003c0002t0006 a0003c0024t0003 a0004c0003t0001 a0004c0003t0005 a0004c0032t0001 a0004c0041t0001 a0007c0011t0001 a0008c0008t0001 a0008c0008t0003 a0010c0012t0001 a0010c0042t0001 a0012c0014t0001 a0017c0019t0004 a0018c0021t0001 a0019c0025t0001 a0019c0025t0002 a0022c0027t0001 a0023c0029t0001 a0025c0030t0001 a0026c0045t0004 a0027c0033t0001 a0029c0043t0003 a0030c0040t0001 a0032c0038t0001 a0033c0031t0004 a0034c0044t0001 a0038c0050t0001 a0039c0051t0003 a0040c0058t0001 a0047c0064t0001	a0001c0005t0001g0053 a0001c0005t0001g0065 a0001c0007t0001g0016 others(135): Show a0001c0005t0001g0053 a0001c0005t0001g0065 a0001c0007t0001g0016 a0001c0007t0001g0134 a0001c0007t0001g0135 a0001c0035t0002g0136 a0003c0002t0001g0002 a0003c0002t0001g0043 a0003c0002t0001g0044 a0003c0002t0001g0048 a0003c0002t0001g0049 a0003c0002t0001g0070 a0003c0002t0001g0072 a0003c0002t0001g0073 a0003c0002t0001g0075 a0003c0002t0001g0082 a0003c0002t0001g0083 a0003c0002t0001g0084 a0003c0002t0001g0087 a0003c0002t0001g0088 a0003c0002t0001g0092 a0003c0002t0001g0093 a0003c0002t0001g0094 a0003c0002t0001g0100 a0003c0002t0001g0101 a0003c0002t0001g0113 a0003c0002t0001g0114 a0003c0002t0001g0124 a0003c0002t0002g0040 a0003c0002t0002g0052 a0003c0002t0002g0090 a0003c0002t0002g0138 a0003c0002t0003g0042 a0003c0002t0003g0050 a0003c0002t0003g0071 a0003c0002t0003g0098 a0003c0002t0003g0123 a0003c0002t0003g0125 a0003c0002t0004g0086 a0003c0002t0005g0122 a0003c0002t0006g0116 a0003c0002t0006g0119 a0003c0024t0003g0068 a0003c0024t0003g0111 a0004c0003t0001g0003 a0004c0003t0001g0004 a0004c0003t0001g0041 a0004c0003t0001g0047 a0004c0003t0001g0051 a0004c0003t0001g0054 a0004c0003t0001g0055 a0004c0003t0001g0060 a0004c0003t0001g0061 a0004c0003t0001g0062 a0004c0003t0001g0064 a0004c0003t0001g0074 a0004c0003t0001g0076 a0004c0003t0001g0081 a0004c0003t0001g0089 a0004c0003t0001g0091 a0004c0003t0001g0096 a0004c0003t0001g0099 a0004c0003t0001g0102 a0004c0003t0001g0103 a0004c0003t0001g0104 a0004c0003t0001g0106 a0004c0003t0001g0107 a0004c0003t0001g0108 a0004c0003t0001g0109 a0004c0003t0001g0110 a0004c0003t0001g0115 a0004c0003t0001g0126 a0004c0003t0001g0127 a0004c0003t0001g0129 a0004c0003t0001g0130 a0004c0003t0001g0131 a0004c0003t0001g0132 a0004c0003t0001g0137 a0004c0003t0005g0063 a0004c0003t0005g0117 a0004c0003t0005g0118 a0004c0003t0005g0121 a0004c0032t0001g0069 a0004c0041t0001g0097 a0007c0011t0001g0017 a0007c0011t0001g0085 a0007c0011t0001g0133 a0008c0008t0001g0012 a0008c0008t0001g0013 a0008c0008t0001g0014 a0008c0008t0001g0015 a0008c0008t0001g0021 a0008c0008t0001g0022 a0008c0008t0001g0024 a0008c0008t0001g0029 a0008c0008t0001g0030 a0008c0008t0003g0011 a0008c0008t0003g0023 a0008c0008t0003g0026 a0008c0008t0003g0037 a0010c0012t0001g0004 a0010c0012t0001g0045 a0010c0012t0001g0078 a0010c0012t0001g0079 a0010c0012t0001g0080 a0010c0012t0001g0095 a0010c0012t0001g0120 a0010c0012t0001g0128 a0010c0042t0001g0046 a0012c0014t0001g0028 a0012c0014t0001g0033 a0012c0014t0001g0034 a0012c0014t0001g0035 a0012c0014t0001g0038 a0017c0019t0004g0039 a0017c0019t0004g0058 a0017c0019t0004g0059 a0018c0021t0001g0031 a0018c0021t0001g0032 a0018c0021t0001g0036 a0019c0025t0001g0077 a0019c0025t0002g0105 a0022c0027t0001g0020 a0022c0027t0001g0025 a0023c0029t0001g0001 a0025c0030t0001g0140 a0025c0030t0001g0141 a0026c0045t0004g0057 a0027c0033t0001g0139 a0029c0043t0003g0067 a0030c0040t0001g0112 a0032c0038t0001g0066 a0033c0031t0004g0056 a0034c0044t0001g0010 a0038c0050t0001g0019 a0039c0051t0003g0027 a0040c0058t0001g0001 a0047c0064t0001g0018	141	378	0.3730	0	c.68+ others(4): Show c.68+6G>C		CAND2	ENSG00000144712.13	transcript	ENST00000456430.6	protein_coding	1/14					chr3	TogoVar
CAND2_chr3_12791680_12839803	12810332	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG00323.hp1	a0028 a0028	a0028c0034 a0028c0034	a0028c0034t0001 a0028c0034t0001	a0028c0034t0001g0252 a0028c0034t0001g0252	1	378	0.0027	0	c.757 others(5): Show c.757+8G>A		CAND2	ENSG00000144712.13	transcript	ENST00000456430.6	protein_coding	5/14					chr3	TogoVar
CAND2_chr3_12791680_12839803	12812992	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02280.hp2 HG02280.hp2	a0034 a0034	a0034c0044 a0034c0044	a0034c0044t0001 a0034c0044t0001	a0034c0044t0001g0010 a0034c0044t0001g0010	1	378	0.0027	0	c.760 others(3): Show c.760G>T	p.Ala others(6): Show p.Ala254Ser	CAND2	ENSG00000144712.13	transcript	ENST00000456430.6	protein_coding	6/15	801/4573	760/3711	254/1236		chr3	TogoVar
CAND2_chr3_12791680_12839803	12815439	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0114 a0003c0002t0001g0114	1	378	0.0027	0	c.129 others(6): Show c.1299+6C>T		CAND2	ENSG00000144712.13	transcript	ENST00000456430.6	protein_coding	8/14					chr3	TogoVar
CAND2_chr3_12791680_12839803	12820087	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00280.hp2 HG00558.hp2 HG00609.hp1 others(64): Show HG00280.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02080.hp1 HG02083.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02738.hp2 HG02809.hp1 HG03017.hp2 HG03492.hp2 HG03834.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18945.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18962.hp1 NA18969.hp1 NA18977.hp1 NA18991.hp1 NA18994.hp2 NA19007.hp2 NA19009.hp2 NA19057.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19085.hp1 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(16): Show a0001 a0004 a0005 a0006 a0007 a0010 a0013 a0014 a0016 a0018 a0019 a0022 a0023 a0025 a0027 a0041 a0043 a0045 a0049	a0001c0037 a0004c0041 a0005c0053 others(17): Show a0001c0037 a0004c0041 a0005c0053 a0006c0006 a0006c0047 a0007c0036 a0010c0012 a0013c0015 a0014c0016 a0016c0020 a0018c0021 a0019c0025 a0022c0027 a0023c0029 a0025c0030 a0027c0033 a0041c0056 a0043c0052 a0045c0059 a0049c0063	a0001c0037t0002 a0004c0041t0001 a0005c0053t0001 others(18): Show a0001c0037t0002 a0004c0041t0001 a0005c0053t0001 a0006c0006t0001 a0006c0047t0001 a0007c0036t0001 a0010c0012t0001 a0013c0015t0001 a0014c0016t0001 a0016c0020t0001 a0018c0021t0001 a0019c0025t0001 a0019c0025t0002 a0022c0027t0001 a0023c0029t0001 a0025c0030t0001 a0027c0033t0001 a0041c0056t0001 a0043c0052t0001 a0045c0059t0001 a0049c0063t0001	a0001c0037t0002g0235 a0004c0041t0001g0097 a0005c0053t0001g0318 others(62): Show a0001c0037t0002g0235 a0004c0041t0001g0097 a0005c0053t0001g0318 a0006c0006t0001g0007 a0006c0006t0001g0178 a0006c0006t0001g0179 a0006c0006t0001g0180 a0006c0006t0001g0185 a0006c0006t0001g0187 a0006c0006t0001g0241 a0006c0006t0001g0242 a0006c0006t0001g0245 a0006c0006t0001g0246 a0006c0006t0001g0247 a0006c0006t0001g0282 a0006c0006t0001g0283 a0006c0006t0001g0296 a0006c0006t0001g0305 a0006c0006t0001g0308 a0006c0006t0001g0309 a0006c0006t0001g0310 a0006c0006t0001g0314 a0006c0006t0001g0315 a0006c0006t0001g0316 a0006c0006t0001g0333 a0006c0006t0001g0341 a0006c0006t0001g0350 a0006c0006t0001g0353 a0006c0047t0001g0304 a0007c0036t0001g0226 a0010c0012t0001g0004 a0010c0012t0001g0045 a0010c0012t0001g0078 a0010c0012t0001g0079 a0010c0012t0001g0080 a0010c0012t0001g0095 a0010c0012t0001g0120 a0010c0012t0001g0128 a0013c0015t0001g0277 a0013c0015t0001g0291 a0013c0015t0001g0298 a0013c0015t0001g0329 a0013c0015t0001g0332 a0014c0016t0001g0144 a0014c0016t0001g0145 a0014c0016t0001g0146 a0014c0016t0001g0147 a0016c0020t0001g0164 a0016c0020t0001g0223 a0016c0020t0001g0227 a0018c0021t0001g0031 a0018c0021t0001g0032 a0018c0021t0001g0036 a0019c0025t0001g0077 a0019c0025t0002g0105 a0022c0027t0001g0020 a0022c0027t0001g0025 a0023c0029t0001g0001 a0025c0030t0001g0140 a0025c0030t0001g0141 a0027c0033t0001g0139 a0041c0056t0001g0324 a0043c0052t0001g0261 a0045c0059t0001g0335 a0049c0063t0001g0330	67	378	0.1773	0	c.294 others(4): Show c.2946T>C	p.Gly others(6): Show p.Gly982Gly	CAND2	ENSG00000144712.13	transcript	ENST00000456430.6	protein_coding	11/15	2987/4573	2946/3711	982/1236		chr3	TogoVar
CANX_chr5_179693967_179736641	179708974	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	380	0.0026	0	c.447 others(5): Show c.447-4T>C		CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding	5/14					chr5	TogoVar
CANX_chr5_179693967_179736641	179722799	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01433.hp2 HG02040.hp2 NA20752.hp1 others(1): Show HG01433.hp2 HG02040.hp2 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0029 a0001c0001t0011 a0001c0001t0029	a0001c0001t0011g0037 a0001c0001t0011g0038 a0001c0001t0011g0039 others(1): Show a0001c0001t0011g0037 a0001c0001t0011g0038 a0001c0001t0011g0039 a0001c0001t0029g0105	4	380	0.0105	0	c.118 others(6): Show c.1183-5T>C		CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding	10/14					chr5	TogoVar
CAP1_chr1_40035729_40077648	40061737	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02145.hp2 HG02622.hp1 HG02717.hp1 others(6): Show HG02145.hp2 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG03098.hp1 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0013 a0001c0002t0015 a0001c0002t0010 a0001c0002t0013 a0001c0002t0015	a0001c0002t0010g0046 a0001c0002t0010g0047 a0001c0002t0013g0048 others(2): Show a0001c0002t0010g0046 a0001c0002t0010g0047 a0001c0002t0013g0048 a0001c0002t0013g0226 a0001c0002t0015g0045	9	378	0.0238	0	c.219 others(3): Show c.219G>A	p.Ala others(5): Show p.Ala73Ala	CAP1	ENSG00000131236.18	transcript	ENST00000372805.8	protein_coding	4/13	302/2626	219/1428	73/475		chr1	TogoVar
CAP1_chr1_40035729_40077648	40070281	A A	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01891.hp1 HG02055.hp2 HG01891.hp1 HG02055.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0005 a0001c0005t0004 a0001c0005t0005	a0001c0005t0004g0064 a0001c0005t0005g0022 a0001c0005t0004g0064 a0001c0005t0005g0022	2	378	0.0053	0	c.111 others(4): Show c.1116A>T	p.Val others(6): Show p.Val372Val	CAP1	ENSG00000131236.18	transcript	ENST00000372805.8	protein_coding	10/13	1199/2626	1116/1428	372/475		chr1	TogoVar
CAP2_chr6_17388595_17562780	17507730	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0073 a0001c0002t0002g0073	1	206	0.0049	0	c.530 others(5): Show c.530+4C>A		CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	6/12					chr6	TogoVar
CAPN10_chr2_240581734_240604104	240592158	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp1 HG00544.hp2 HG00642.hp1 others(16): Show HG00438.hp1 HG00544.hp2 HG00642.hp1 HG01074.hp2 HG01167.hp2 HG01168.hp1 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG02683.hp2 HG02735.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG04184.hp2 NA19002.hp1 NA19085.hp2 NA19091.hp2 NA20805.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0004 a0002c0003t0003 a0002c0003t0004	a0002c0003t0003g0008 a0002c0003t0003g0026 a0002c0003t0003g0040 others(1): Show a0002c0003t0003g0008 a0002c0003t0003g0026 a0002c0003t0003g0040 a0002c0003t0004g0026	19	412	0.0461	0	c.688 others(5): Show c.688+8A>G		CAPN10	ENSG00000142330.20	transcript	ENST00000391984.7	protein_coding	4/11					chr2	TogoVar
CAPN10_chr2_240581734_240604104	240594707	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02015.hp2 HG02015.hp2	a0011 a0011	a0011c0025 a0011c0025	a0011c0025t0001 a0011c0025t0001	a0011c0025t0001g0001 a0011c0025t0001g0001	1	412	0.0024	0	c.995 others(3): Show c.995C>T	p.Thr others(6): Show p.Thr332Ile	CAPN10	ENSG00000142330.20	transcript	ENST00000391984.7	protein_coding	6/12	1173/2621	995/2019	332/672		chr2	TogoVar
CAPN10_chr2_240581734_240604104	240598644	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp2 HG00438.hp1 HG00544.hp1 others(50): Show HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01167.hp2 HG01168.hp1 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG02055.hp2 HG02257.hp1 HG02273.hp2 HG02523.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG03017.hp1 HG03209.hp2 HG03491.hp1 HG03579.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 NA18747.hp1 NA18956.hp1 NA18959.hp1 NA18969.hp1 NA18971.hp1 NA18974.hp2 NA18989.hp2 NA18991.hp1 NA18998.hp1 NA19002.hp1 NA19043.hp1 NA19074.hp2 NA19085.hp2 NA19091.hp2 NA19240.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0003 a0002c0003t0004 a0001c0002t0001 a0002c0003t0003 a0002c0003t0004	a0001c0002t0001g0032 a0002c0003t0003g0004 a0002c0003t0003g0008 others(11): Show a0001c0002t0001g0032 a0002c0003t0003g0004 a0002c0003t0003g0008 a0002c0003t0003g0026 a0002c0003t0003g0027 a0002c0003t0003g0028 a0002c0003t0003g0040 a0002c0003t0003g0043 a0002c0003t0003g0044 a0002c0003t0003g0045 a0002c0003t0003g0086 a0002c0003t0003g0087 a0002c0003t0003g0088 a0002c0003t0004g0026	53	412	0.1286	0	c.199 others(6): Show c.1990-7T>C		CAPN10	ENSG00000142330.20	transcript	ENST00000391984.7	protein_coding	11/11					chr2	TogoVar
CAPN11_chr6_44153820_44189401	44173081	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(106): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01257.hp2 HG01358.hp1 HG01361.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01943.hp1 HG01975.hp2 HG01993.hp2 HG02027.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp2 HG02300.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp2 NA18990.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0012	a0001c0001 a0001c0020 a0002c0002 others(3): Show a0001c0001 a0001c0020 a0002c0002 a0003c0003 a0004c0004 a0012c0014	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0020t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0003 a0004c0004t0001 a0004c0004t0002 a0012c0014t0001	a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0023 others(102): Show a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0116 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0222 a0001c0001t0001g0230 a0001c0001t0001g0295 a0001c0001t0001g0300 a0001c0001t0001g0347 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0388 a0001c0001t0001g0427 a0001c0001t0005g0340 a0001c0001t0008g0296 a0001c0020t0001g0179 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0033 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0064 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0083 a0002c0002t0001g0096 a0002c0002t0001g0103 a0002c0002t0001g0111 a0002c0002t0001g0117 a0002c0002t0001g0119 a0002c0002t0001g0132 a0002c0002t0001g0134 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0001g0170 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0181 a0002c0002t0001g0199 a0002c0002t0001g0219 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0256 a0002c0002t0001g0263 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0279 a0002c0002t0001g0318 a0002c0002t0001g0324 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0344 a0002c0002t0001g0345 a0002c0002t0001g0346 a0002c0002t0001g0348 a0002c0002t0001g0356 a0002c0002t0001g0357 a0002c0002t0001g0358 a0002c0002t0001g0359 a0002c0002t0001g0360 a0002c0002t0001g0363 a0002c0002t0001g0365 a0002c0002t0001g0366 a0002c0002t0001g0371 a0002c0002t0001g0375 a0002c0002t0001g0384 a0002c0002t0001g0389 a0002c0002t0001g0397 a0002c0002t0001g0409 a0002c0002t0001g0415 a0002c0002t0002g0343 a0002c0002t0002g0414 a0003c0003t0003g0257 a0004c0004t0001g0013 a0004c0004t0001g0041 a0004c0004t0001g0042 a0004c0004t0001g0043 a0004c0004t0001g0130 a0004c0004t0001g0131 a0004c0004t0001g0144 a0004c0004t0001g0184 a0004c0004t0001g0240 a0004c0004t0001g0262 a0004c0004t0001g0297 a0004c0004t0001g0298 a0004c0004t0001g0317 a0004c0004t0001g0319 a0004c0004t0002g0235 a0012c0014t0001g0332	109	460	0.2370	0	c.662 others(5): Show c.662+8C>G		CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	6/22					chr6	TogoVar
CAPN11_chr6_44153820_44189401	44176065	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0376 a0003c0003t0001g0376	1	460	0.0022	0	c.832 others(5): Show c.832-3T>C		CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	7/22					chr6	TogoVar
CAPN11_chr6_44153820_44189401	44176996	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02723.hp1 HG02723.hp1	a0015 a0015	a0015c0018 a0015c0018	a0015c0018t0008 a0015c0018t0008	a0015c0018t0008g0322 a0015c0018t0008g0322	1	460	0.0022	0	c.123 others(4): Show c.1235C>T	p.Pro others(6): Show p.Pro412Leu	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	11/23	1264/2718	1235/2220	412/739		chr6	TogoVar
CAPN11_chr6_44153820_44189401	44180668	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp1 HG02615.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0428 a0008c0008t0002g0428	1	460	0.0022	0	c.174 others(6): Show c.1746+6C>T		CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	16/22					chr6	TogoVar
CAPN12_chr19_38725192_38749474	38730884	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp1 HG02723.hp1 HG02886.hp2 HG02622.hp1 HG02723.hp1 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0016 a0001c0003t0002g0177 a0001c0003t0002g0016 a0001c0003t0002g0177	3	342	0.0088	0	c.213 others(6): Show c.2134-6C>T		CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	20/20					chr19	TogoVar
CAPN12_chr19_38725192_38749474	38734204	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18944.hp1 NA18987.hp1 NA18998.hp2 NA18944.hp1 NA18987.hp1 NA18998.hp2	a0004 a0007 a0004 a0007	a0004c0027 a0007c0012 a0004c0027 a0007c0012	a0004c0027t0001 a0007c0012t0001 a0004c0027t0001 a0007c0012t0001	a0004c0027t0001g0094 a0007c0012t0001g0010 a0004c0027t0001g0094 a0007c0012t0001g0010	3	342	0.0088	0	c.181 others(4): Show c.1816C>T	p.His others(6): Show p.His606Tyr	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	17/21	2125/3129	1816/2160	606/719		chr19	TogoVar
CAPN12_chr19_38725192_38749474	38734364	TCTGGGGG others(18): Show TCTGGGGGTGGAGGTATGGGCCCTGG	T T	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG03490.hp2 HG03490.hp2	a0020 a0020	a0020c0022 a0020c0022	a0020c0022t0001 a0020c0022t0001	a0020c0022t0001g0148 a0020c0022t0001g0148	1	342	0.0029	-25	c.174 others(34): Show c.1745_1769delCCAGGGCCCATACCTCCACCCCCAG	p.Ala others(5): Show p.Ala582fs	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	16/21	2078/3129	1745/2160	582/719		chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735549	A A	AAATTACA others(9): Show AAATTACAGATGGGAAG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0168 a0001c0002t0002g0168	1	342	0.0029	16	c.158 others(30): Show c.1584-21_1584-6dupCTTCCCATCTGTAATT		CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20					chr19	TogoVar
CAPN12_chr19_38725192_38749474	38740224	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03130.hp1 HG03471.hp1 HG03130.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0238 a0001c0001t0001g0239	2	342	0.0059	0	c.561 others(5): Show c.561-5C>T		CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	4/20					chr19	TogoVar
CAPN13_chr2_30717771_30812446	30736500	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp1 HG01258.hp2 HG02602.hp1 others(3): Show HG00741.hp1 HG01258.hp2 HG02602.hp1 HG03017.hp1 HG04184.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0199 a0001c0001t0001g0327 a0001c0001t0002g0370 others(3): Show a0001c0001t0001g0199 a0001c0001t0001g0327 a0001c0001t0002g0370 a0001c0001t0004g0024 a0001c0001t0004g0157 a0001c0001t0004g0377	6	384	0.0156	0	c.172 others(6): Show c.1722+3A>G		CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	18/22					chr2	TogoVar
CAPN13_chr2_30717771_30812446	30764124	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01433.hp1 HG01884.hp1 HG02647.hp1 others(2): Show HG01433.hp1 HG01884.hp1 HG02647.hp1 HG03041.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0365 a0001c0001t0002g0176 a0001c0001t0002g0235 others(2): Show a0001c0001t0001g0365 a0001c0001t0002g0176 a0001c0001t0002g0235 a0001c0001t0002g0243 a0001c0001t0005g0350	5	384	0.0130	0	c.699 others(5): Show c.699+8A>G		CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	6/22					chr2	TogoVar
CAPN13_chr2_30717771_30812446	30787361	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0147 a0001c0002t0002g0147	1	384	0.0026	0	c.-32 others(5): Show c.-32-4A>G		CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22					chr2	TogoVar
CAPN14_chr2_31168056_31222515	31188318	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00280.hp2 HG00438.hp2 HG00639.hp1 others(132): Show HG00280.hp2 HG00438.hp2 HG00639.hp1 HG00673.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02055.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18968.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA19003.hp1 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19076.hp2 NA19080.hp2 NA19081.hp2 NA19086.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 others(10): Show a0002 a0003 a0004 a0006 a0009 a0010 a0013 a0016 a0017 a0019 a0021 a0025 a0026	a0002c0002 a0002c0004 a0002c0012 others(18): Show a0002c0002 a0002c0004 a0002c0012 a0002c0037 a0003c0005 a0003c0018 a0003c0025 a0003c0029 a0004c0006 a0004c0014 a0004c0044 a0006c0007 a0009c0010 a0010c0015 a0013c0022 a0016c0026 a0017c0027 a0019c0047 a0021c0030 a0025c0041 a0026c0042	a0002c0002t0001 a0002c0002t0004 a0002c0002t0012 others(34): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0012 a0002c0002t0017 a0002c0002t0020 a0002c0004t0001 a0002c0004t0004 a0002c0004t0005 a0002c0004t0009 a0002c0004t0021 a0002c0012t0001 a0002c0012t0009 a0002c0012t0026 a0002c0037t0001 a0003c0005t0001 a0003c0005t0005 a0003c0005t0016 a0003c0018t0009 a0003c0018t0018 a0003c0025t0001 a0003c0029t0001 a0004c0006t0005 a0004c0014t0001 a0004c0044t0001 a0006c0007t0008 a0009c0010t0011 a0009c0010t0022 a0010c0015t0001 a0010c0015t0012 a0013c0022t0005 a0016c0026t0020 a0016c0026t0031 a0017c0027t0009 a0019c0047t0001 a0021c0030t0001 a0025c0041t0001 a0026c0042t0027	a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(118): Show a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0015 a0002c0002t0001g0194 a0002c0002t0001g0198 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0223 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0240 a0002c0002t0001g0255 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0004g0230 a0002c0002t0004g0239 a0002c0002t0012g0281 a0002c0002t0012g0282 a0002c0002t0012g0283 a0002c0002t0017g0224 a0002c0002t0017g0251 a0002c0002t0020g0296 a0002c0004t0001g0009 a0002c0004t0001g0131 a0002c0004t0001g0134 a0002c0004t0001g0161 a0002c0004t0001g0191 a0002c0004t0004g0175 a0002c0004t0005g0030 a0002c0004t0005g0031 a0002c0004t0005g0067 a0002c0004t0005g0068 a0002c0004t0009g0147 a0002c0004t0021g0027 a0002c0012t0001g0125 a0002c0012t0001g0135 a0002c0012t0009g0122 a0002c0012t0009g0123 a0002c0012t0009g0124 a0002c0012t0026g0126 a0002c0037t0001g0294 a0003c0005t0001g0140 a0003c0005t0001g0141 a0003c0005t0001g0144 a0003c0005t0001g0145 a0003c0005t0001g0146 a0003c0005t0001g0151 a0003c0005t0001g0157 a0003c0005t0005g0019 a0003c0005t0016g0016 a0003c0005t0016g0017 a0003c0018t0009g0166 a0003c0018t0018g0152 a0003c0018t0018g0165 a0003c0025t0001g0155 a0003c0025t0001g0164 a0003c0029t0001g0290 a0003c0029t0001g0291 a0004c0006t0005g0035 a0004c0006t0005g0044 a0004c0006t0005g0085 a0004c0006t0005g0091 a0004c0006t0005g0092 a0004c0006t0005g0093 a0004c0006t0005g0094 a0004c0006t0005g0109 a0004c0006t0005g0113 a0004c0006t0005g0117 a0004c0014t0001g0010 a0004c0014t0001g0139 a0004c0014t0001g0148 a0004c0014t0001g0149 a0004c0044t0001g0199 a0006c0007t0008g0265 a0006c0007t0008g0266 a0006c0007t0008g0267 a0006c0007t0008g0272 a0006c0007t0008g0273 a0006c0007t0008g0274 a0006c0007t0008g0275 a0006c0007t0008g0277 a0006c0007t0008g0278 a0009c0010t0011g0013 a0009c0010t0011g0299 a0009c0010t0011g0300 a0009c0010t0011g0301 a0009c0010t0022g0089 a0010c0015t0001g0004 a0010c0015t0001g0252 a0010c0015t0012g0253 a0013c0022t0005g0045 a0013c0022t0005g0077 a0016c0026t0020g0298 a0016c0026t0031g0297 a0017c0027t0009g0142 a0017c0027t0009g0143 a0019c0047t0001g0163 a0021c0030t0001g0271 a0025c0041t0001g0245 a0026c0042t0027g0243	135	326	0.4141	0	c.153 others(4): Show c.1530G>T	p.Lys others(6): Show p.Lys510Asn	CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	14/22	1642/3792	1530/2055	510/684		chr2	TogoVar
CAPN14_chr2_31168056_31222515	31189481	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01070.hp2 HG01884.hp2 HG02155.hp1 others(8): Show HG01070.hp2 HG01884.hp2 HG02155.hp1 HG02738.hp1 HG03209.hp2 HG03516.hp1 HG03669.hp2 NA19003.hp1 NA19056.hp2 NA19063.hp2 NA20805.hp2	a0006 a0015 a0021 a0006 a0015 a0021	a0006c0007 a0015c0024 a0021c0030 a0006c0007 a0015c0024 a0021c0030	a0006c0007t0008 a0015c0024t0010 a0021c0030t0001 a0006c0007t0008 a0015c0024t0010 a0021c0030t0001	a0006c0007t0008g0265 a0006c0007t0008g0266 a0006c0007t0008g0267 others(8): Show a0006c0007t0008g0265 a0006c0007t0008g0266 a0006c0007t0008g0267 a0006c0007t0008g0272 a0006c0007t0008g0273 a0006c0007t0008g0274 a0006c0007t0008g0275 a0006c0007t0008g0277 a0006c0007t0008g0278 a0015c0024t0010g0276 a0021c0030t0001g0271	11	326	0.0337	0	c.128 others(6): Show c.1288-3C>T		CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	12/21					chr2	TogoVar
CAPN14_chr2_31168056_31222515	31199529	TCTC TCTC	T T	conservative_inframe_deletion others(1): Show conservative_inframe_deletion splice_region_variant	MODERATE	NA18963.hp2 NA18979.hp2 NA18999.hp1 others(1): Show NA18963.hp2 NA18979.hp2 NA18999.hp1 NA19086.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0002 a0011c0016t0002	a0011c0016t0002g0034 a0011c0016t0002g0042 a0011c0016t0002g0043 others(1): Show a0011c0016t0002g0034 a0011c0016t0002g0042 a0011c0016t0002g0043 a0011c0016t0002g0076	4	326	0.0123	-3	c.727 others(10): Show c.727_729delGAG	p.Glu others(6): Show p.Glu243del	CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	7/22	841/3792	727/2055	243/684		chr2	TogoVar
CAPN14_chr2_31168056_31222515	31200629	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02293.hp2 HG02293.hp2	a0015 a0015	a0015c0024 a0015c0024	a0015c0024t0004 a0015c0024t0004	a0015c0024t0004g0270 a0015c0024t0004g0270	1	326	0.0031	0	c.552 others(5): Show c.552-4C>G		CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	5/21					chr2	TogoVar
CAPN14_chr2_31168056_31222515	31200633	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0282 a0002c0002t0012g0282	1	326	0.0031	0	c.552 others(5): Show c.552-8C>G		CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	5/21					chr2	TogoVar
CAPN14_chr2_31168056_31222515	31202255	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp2 HG03195.hp1 HG03471.hp1 HG02258.hp2 HG03195.hp1 HG03471.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0009 a0002c0012t0009	a0002c0012t0009g0122 a0002c0012t0009g0123 a0002c0012t0009g0124 a0002c0012t0009g0122 a0002c0012t0009g0123 a0002c0012t0009g0124	3	326	0.0092	0	c.296 others(5): Show c.296-3T>G		CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	3/21					chr2	TogoVar
CAPN15_chr16_522712_559636	548989	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03098.hp1 NA18906.hp2 HG03098.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0009 a0001c0001t0001 a0001c0002t0009	a0001c0001t0001g0301 a0001c0002t0009g0247 a0001c0001t0001g0301 a0001c0002t0009g0247	2	410	0.0049	0	c.145 others(6): Show c.1450-4G>A		CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	4/13					chr16	TogoVar
CAPN15_chr16_522712_559636	551296	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0001 a0004c0018t0001	a0004c0018t0001g0274 a0004c0018t0001g0274	1	410	0.0024	0	c.206 others(6): Show c.2067-6A>C		CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13					chr16	TogoVar
CAPN15_chr16_522712_559636	551669	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp2 NA19090.hp2 HG00438.hp2 NA19090.hp2	a0001 a0001	a0001c0004 a0001c0009 a0001c0004 a0001c0009	a0001c0004t0002 a0001c0009t0002 a0001c0004t0002 a0001c0009t0002	a0001c0004t0002g0327 a0001c0009t0002g0180 a0001c0004t0002g0327 a0001c0009t0002g0180	2	410	0.0049	0	c.234 others(6): Show c.2345+5C>T		CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	9/13					chr16	TogoVar
CAPN15_chr16_522712_559636	552046	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(400): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19059.hp1 NA19059.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027	a0001c0001 a0001c0002 a0001c0003 others(76): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0013 a0001c0017 a0001c0021 a0001c0022 a0001c0028 a0001c0042 a0001c0043 a0001c0044 a0001c0045 a0001c0046 a0001c0051 a0001c0052 a0001c0053 a0001c0054 a0001c0055 a0001c0057 a0001c0060 a0001c0061 a0001c0062 a0001c0063 a0001c0064 a0001c0067 a0001c0070 a0001c0071 a0001c0072 a0001c0073 a0001c0074 a0002c0010 a0002c0011 a0002c0031 a0002c0032 a0002c0033 a0002c0035 a0002c0037 a0002c0039 a0002c0040 a0003c0012 a0003c0014 a0003c0047 a0003c0048 a0003c0049 a0003c0059 a0004c0018 a0004c0019 a0004c0025 a0004c0077 a0005c0015 a0005c0016 a0006c0023 a0007c0020 a0008c0026 a0009c0024 a0010c0080 a0011c0027 a0012c0075 a0013c0029 a0014c0041 a0015c0036 a0016c0034 a0017c0038 a0018c0058 a0019c0050 a0020c0066 a0021c0065 a0022c0056 a0023c0068 a0024c0030 a0025c0076 a0026c0079 a0027c0078	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(133): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0022 a0001c0001t0025 a0001c0001t0029 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0019 a0001c0002t0020 a0001c0002t0028 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0008 a0001c0003t0015 a0001c0003t0023 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0013 a0001c0005t0001 a0001c0005t0002 a0001c0005t0007 a0001c0005t0010 a0001c0005t0026 a0001c0005t0033 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0007t0001 a0001c0007t0002 a0001c0007t0009 a0001c0007t0034 a0001c0007t0036 a0001c0008t0001 a0001c0008t0035 a0001c0009t0001 a0001c0009t0002 a0001c0013t0003 a0001c0017t0001 a0001c0017t0012 a0001c0021t0001 a0001c0021t0002 a0001c0022t0001 a0001c0022t0027 a0001c0028t0002 a0001c0042t0002 a0001c0043t0001 a0001c0044t0008 a0001c0045t0002 a0001c0046t0037 a0001c0051t0002 a0001c0052t0003 a0001c0053t0031 a0001c0054t0002 a0001c0055t0002 a0001c0057t0002 a0001c0060t0002 a0001c0061t0002 a0001c0062t0001 a0001c0063t0001 a0001c0064t0001 a0001c0067t0016 a0001c0070t0002 a0001c0071t0001 a0001c0072t0004 a0001c0073t0002 a0001c0074t0001 a0002c0010t0001 a0002c0011t0001 a0002c0011t0006 a0002c0011t0017 a0002c0031t0021 a0002c0032t0003 a0002c0033t0003 a0002c0035t0004 a0002c0037t0001 a0002c0039t0001 a0002c0040t0001 a0003c0012t0001 a0003c0012t0002 a0003c0014t0001 a0003c0014t0002 a0003c0047t0001 a0003c0048t0001 a0003c0049t0002 a0003c0059t0002 a0004c0018t0001 a0004c0018t0014 a0004c0019t0001 a0004c0019t0003 a0004c0019t0007 a0004c0025t0003 a0004c0077t0030 a0005c0015t0001 a0005c0015t0002 a0005c0015t0004 a0005c0016t0001 a0005c0016t0002 a0005c0016t0003 a0006c0023t0001 a0007c0020t0006 a0008c0026t0001 a0008c0026t0002 a0009c0024t0001 a0009c0024t0002 a0010c0080t0001 a0011c0027t0024 a0012c0075t0001 a0013c0029t0002 a0014c0041t0004 a0015c0036t0001 a0016c0034t0001 a0017c0038t0001 a0018c0058t0002 a0019c0050t0018 a0020c0066t0001 a0021c0065t0002 a0022c0056t0002 a0023c0068t0001 a0024c0030t0002 a0025c0076t0003 a0026c0079t0002 a0027c0078t0032	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0017 others(391): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0036 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0301 a0001c0001t0001g0350 a0001c0001t0001g0362 a0001c0001t0001g0384 a0001c0001t0001g0389 a0001c0001t0001g0390 a0001c0001t0001g0394 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0052 a0001c0001t0002g0100 a0001c0001t0002g0135 a0001c0001t0002g0142 a0001c0001t0002g0150 a0001c0001t0002g0154 a0001c0001t0002g0159 a0001c0001t0002g0164 a0001c0001t0002g0178 a0001c0001t0002g0189 a0001c0001t0002g0199 a0001c0001t0002g0222 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0242 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0291 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0305 a0001c0001t0002g0317 a0001c0001t0002g0331 a0001c0001t0002g0335 a0001c0001t0002g0353 a0001c0001t0002g0366 a0001c0001t0002g0369 a0001c0001t0002g0371 a0001c0001t0002g0372 a0001c0001t0002g0374 a0001c0001t0002g0388 a0001c0001t0002g0396 a0001c0001t0003g0208 a0001c0001t0003g0255 a0001c0001t0004g0294 a0001c0001t0005g0263 a0001c0001t0005g0321 a0001c0001t0005g0345 a0001c0001t0013g0183 a0001c0001t0015g0158 a0001c0001t0016g0283 a0001c0001t0022g0184 a0001c0001t0025g0216 a0001c0001t0029g0136 a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0086 a0001c0002t0001g0108 a0001c0002t0001g0111 a0001c0002t0001g0116 a0001c0002t0001g0122 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0134 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0157 a0001c0002t0001g0160 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0185 a0001c0002t0001g0187 a0001c0002t0001g0192 a0001c0002t0001g0249 a0001c0002t0001g0295 a0001c0002t0001g0307 a0001c0002t0001g0319 a0001c0002t0001g0361 a0001c0002t0001g0387 a0001c0002t0002g0044 a0001c0002t0002g0047 a0001c0002t0002g0051 a0001c0002t0002g0057 a0001c0002t0002g0062 a0001c0002t0002g0067 a0001c0002t0002g0069 a0001c0002t0002g0076 a0001c0002t0002g0097 a0001c0002t0002g0099 a0001c0002t0002g0110 a0001c0002t0002g0126 a0001c0002t0002g0140 a0001c0002t0002g0146 a0001c0002t0002g0151 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0177 a0001c0002t0002g0239 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0297 a0001c0002t0002g0337 a0001c0002t0002g0341 a0001c0002t0002g0343 a0001c0002t0002g0344 a0001c0002t0002g0346 a0001c0002t0002g0348 a0001c0002t0003g0213 a0001c0002t0003g0241 a0001c0002t0003g0357 a0001c0002t0004g0254 a0001c0002t0004g0256 a0001c0002t0004g0257 a0001c0002t0005g0370 a0001c0002t0009g0247 a0001c0002t0009g0398 a0001c0002t0010g0391 a0001c0002t0011g0237 a0001c0002t0019g0397 a0001c0002t0020g0098 a0001c0002t0028g0316 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0064 a0001c0003t0001g0075 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0083 a0001c0003t0001g0093 a0001c0003t0001g0107 a0001c0003t0001g0211 a0001c0003t0001g0215 a0001c0003t0001g0218 a0001c0003t0001g0235 a0001c0003t0001g0245 a0001c0003t0001g0355 a0001c0003t0001g0356 a0001c0003t0002g0027 a0001c0003t0002g0040 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0056 a0001c0003t0002g0130 a0001c0003t0002g0156 a0001c0003t0003g0003 a0001c0003t0003g0054 a0001c0003t0008g0124 a0001c0003t0008g0125 a0001c0003t0008g0152 a0001c0003t0015g0153 a0001c0003t0023g0209 a0001c0004t0001g0018 a0001c0004t0001g0103 a0001c0004t0001g0104 a0001c0004t0001g0186 a0001c0004t0001g0217 a0001c0004t0001g0269 a0001c0004t0001g0339 a0001c0004t0001g0347 a0001c0004t0001g0393 a0001c0004t0002g0063 a0001c0004t0002g0066 a0001c0004t0002g0096 a0001c0004t0002g0109 a0001c0004t0002g0300 a0001c0004t0002g0311 a0001c0004t0002g0315 a0001c0004t0002g0318 a0001c0004t0002g0327 a0001c0004t0002g0336 a0001c0004t0002g0340 a0001c0004t0003g0001 a0001c0004t0003g0009 a0001c0004t0003g0042 a0001c0004t0003g0079 a0001c0004t0003g0312 a0001c0004t0003g0354 a0001c0004t0003g0377 a0001c0004t0003g0378 a0001c0004t0003g0379 a0001c0004t0003g0380 a0001c0004t0003g0381 a0001c0004t0013g0163 a0001c0005t0001g0011 a0001c0005t0001g0021 a0001c0005t0001g0030 a0001c0005t0002g0012 a0001c0005t0002g0026 a0001c0005t0002g0039 a0001c0005t0002g0048 a0001c0005t0002g0068 a0001c0005t0002g0074 a0001c0005t0002g0077 a0001c0005t0002g0175 a0001c0005t0002g0179 a0001c0005t0002g0207 a0001c0005t0002g0276 a0001c0005t0002g0296 a0001c0005t0002g0328 a0001c0005t0002g0329 a0001c0005t0002g0330 a0001c0005t0002g0342 a0001c0005t0002g0368 a0001c0005t0002g0375 a0001c0005t0002g0376 a0001c0005t0007g0071 a0001c0005t0007g0072 a0001c0005t0007g0073 a0001c0005t0010g0020 a0001c0005t0010g0304 a0001c0005t0026g0091 a0001c0005t0033g0252 a0001c0006t0001g0015 a0001c0006t0001g0037 a0001c0006t0001g0043 a0001c0006t0001g0112 a0001c0006t0001g0113 a0001c0006t0001g0114 a0001c0006t0001g0117 a0001c0006t0001g0119 a0001c0006t0001g0193 a0001c0006t0001g0221 a0001c0006t0001g0351 a0001c0006t0002g0123 a0001c0006t0002g0251 a0001c0006t0002g0306 a0001c0006t0002g0323 a0001c0006t0003g0006 a0001c0006t0003g0270 a0001c0006t0003g0277 a0001c0007t0001g0041 a0001c0007t0001g0090 a0001c0007t0001g0092 a0001c0007t0001g0133 a0001c0007t0001g0194 a0001c0007t0001g0210 a0001c0007t0001g0220 a0001c0007t0002g0046 a0001c0007t0002g0127 a0001c0007t0002g0332 a0001c0007t0009g0244 a0001c0007t0034g0106 a0001c0007t0036g0358 a0001c0008t0001g0002 a0001c0008t0001g0013 a0001c0008t0001g0138 a0001c0008t0001g0162 a0001c0008t0001g0181 a0001c0008t0001g0227 a0001c0008t0001g0258 a0001c0008t0001g0265 a0001c0008t0001g0310 a0001c0008t0001g0326 a0001c0008t0001g0334 a0001c0008t0035g0149 a0001c0009t0001g0087 a0001c0009t0001g0088 a0001c0009t0002g0128 a0001c0009t0002g0180 a0001c0009t0002g0196 a0001c0009t0002g0204 a0001c0009t0002g0236 a0001c0013t0003g0080 a0001c0013t0003g0233 a0001c0013t0003g0324 a0001c0013t0003g0325 a0001c0017t0001g0289 a0001c0017t0012g0290 a0001c0017t0012g0365 a0001c0021t0001g0168 a0001c0021t0002g0224 a0001c0022t0001g0303 a0001c0022t0027g0349 a0001c0028t0002g0302 a0001c0042t0002g0309 a0001c0043t0001g0333 a0001c0044t0008g0023 a0001c0045t0002g0367 a0001c0046t0037g0268 a0001c0051t0002g0313 a0001c0052t0003g0025 a0001c0053t0031g0024 a0001c0054t0002g0206 a0001c0055t0002g0176 a0001c0057t0002g0228 a0001c0060t0002g0045 a0001c0061t0002g0314 a0001c0062t0001g0070 a0001c0063t0001g0266 a0001c0064t0001g0029 a0001c0067t0016g0279 a0001c0070t0002g0188 a0001c0071t0001g0322 a0001c0072t0004g0395 a0001c0073t0002g0182 a0001c0074t0001g0016 a0002c0010t0001g0022 a0002c0010t0001g0032 a0002c0010t0001g0033 a0002c0010t0001g0034 a0002c0010t0001g0338 a0002c0011t0001g0038 a0002c0011t0006g0139 a0002c0011t0006g0201 a0002c0011t0017g0200 a0002c0031t0021g0280 a0002c0032t0003g0120 a0002c0033t0003g0363 a0002c0035t0004g0400 a0002c0037t0001g0382 a0002c0039t0001g0031 a0002c0040t0001g0360 a0003c0012t0001g0261 a0003c0012t0002g0061 a0003c0012t0002g0260 a0003c0012t0002g0267 a0003c0014t0001g0308 a0003c0014t0001g0320 a0003c0014t0002g0102 a0003c0047t0001g0373 a0003c0048t0001g0226 a0003c0049t0002g0383 a0003c0059t0002g0065 a0004c0018t0001g0274 a0004c0018t0014g0007 a0004c0019t0001g0285 a0004c0019t0003g0275 a0004c0019t0007g0286 a0004c0025t0003g0278 a0004c0025t0003g0284 a0004c0077t0030g0287 a0005c0015t0001g0019 a0005c0015t0002g0155 a0005c0015t0004g0253 a0005c0016t0001g0202 a0005c0016t0002g0223 a0005c0016t0003g0121 a0006c0023t0001g0145 a0006c0023t0001g0197 a0007c0020t0006g0147 a0007c0020t0006g0148 a0008c0026t0001g0281 a0008c0026t0002g0282 a0009c0024t0001g0386 a0009c0024t0002g0359 a0010c0080t0001g0161 a0011c0027t0024g0273 a0012c0075t0001g0028 a0013c0029t0002g0198 a0014c0041t0004g0385 a0015c0036t0001g0392 a0016c0034t0001g0399 a0017c0038t0001g0035 a0018c0058t0002g0053 a0019c0050t0018g0225 a0020c0066t0001g0248 a0021c0065t0002g0095 a0022c0056t0002g0243 a0023c0068t0001g0364 a0024c0030t0002g0055 a0025c0076t0003g0288 a0026c0079t0002g0101 a0027c0078t0032g0060	403	410	0.9829	0	c.234 others(6): Show c.2346-5T>C		CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	9/13					chr16	TogoVar
CAPN15_chr16_522712_559636	552047	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0239 a0001c0002t0002g0239	1	410	0.0024	0	c.234 others(6): Show c.2346-4G>A		CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	9/13					chr16	TogoVar
CAPN15_chr16_522712_559636	553027	GCCACCCC others(29): Show GCCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01981.hp2 HG01981.hp2	a0020 a0020	a0020c0066 a0020c0066	a0020c0066t0001 a0020c0066t0001	a0020c0066t0001g0248 a0020c0066t0001g0248	1	410	0.0024	-36	c.308 others(50): Show c.3083+5_3083+40delGCCCCCGCCCCTGCCCCCCCACCCCTGCACA GGTGC		CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	13/13				INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	553331	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0344 a0001c0002t0002g0344	1	410	0.0024	0	c.308 others(6): Show c.3084-8T>C		CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	13/13					chr16	TogoVar
CAPN1_chr11_65176928_65217006	65185912	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0056 a0001c0015t0001g0056	1	394	0.0025	0	c.457 others(5): Show c.457-5C>A		CAPN1	ENSG00000014216.16	transcript	ENST00000279247.11	protein_coding	4/21					chr11	TogoVar

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