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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CAMK2B_chr7_44212154_44330594	44227767	G G	GGAGGGTG others(11): Show GGAGGGTGTGGGGGACAGA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0154 a0001c0006t0007g0154	1	242	0.0041	18	c.146 others(37): Show c.1468+1028_1468+1029insTCTGTCCCCCACACCCTC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227775	C C	CTGGGGGA others(11): Show CTGGGGGACAGAGGGGGTG	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18522.hp1 HG03041.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0003 a0001c0002t0001 a0001c0004t0003	a0001c0002t0001g0031 a0001c0004t0003g0075 a0001c0002t0001g0031 a0001c0004t0003g0075	2	242	0.0083	18	c.146 others(37): Show c.1468+1020_1468+1021insCACCCCCTCTGTCCCCCA	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44313518	C C	CCAGACGT others(11): Show CCAGACGTGGGGTGAGGCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp1 HG02647.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0004 a0001c0001t0002 a0001c0004t0004	a0001c0001t0002g0104 a0001c0004t0004g0105 a0001c0001t0002g0104 a0001c0004t0004g0105	2	242	0.0083	18	c.65+ others(35): Show c.65+11821_65+11838dupAGCCTCACCCCACGTCTG	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	1/23			chr7	TogoVar
CAMK2D_chr4_113446032_113766738	113526414	A A	ATATGTGT others(11): Show ATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02922.hp2 NA18906.hp1 others(1): Show HG02559.hp2 HG02922.hp2 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0020 a0001c0001t0037 a0001c0005t0004 a0001c0001t0020 a0001c0001t0037 a0001c0005t0004	a0001c0001t0020g0007 a0001c0001t0020g0008 a0001c0001t0037g0004 others(1): Show a0001c0001t0020g0007 a0001c0001t0020g0008 a0001c0001t0037g0004 a0001c0005t0004g0045	4	278	0.0144	18	c.601 others(35): Show c.601+4801_601+4802insCACACACACACACACATA	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	8/20			chr4	TogoVar
CAMK2D_chr4_113446032_113766738	113603773	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG03516.hp2 HG02109.hp1 HG02280.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0050 a0001c0001t0069 a0001c0001t0004 a0001c0001t0050 a0001c0001t0069	a0001c0001t0004g0035 a0001c0001t0050g0155 a0001c0001t0069g0259 a0001c0001t0004g0035 a0001c0001t0050g0155 a0001c0001t0069g0259	3	278	0.0108	18	c.275 others(35): Show c.275+5361_275+5378dupTATATATATATATATATA	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	4/20			chr4	TogoVar
CAMK2D_chr4_113446032_113766738	113663590	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03041.hp2 HG03098.hp1 others(1): Show HG02451.hp1 HG03041.hp2 HG03098.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0005 a0001c0001t0005 a0001c0003t0005	a0001c0001t0005g0053 a0001c0003t0005g0116 a0001c0003t0005g0118 others(1): Show a0001c0001t0005g0053 a0001c0003t0005g0116 a0001c0003t0005g0118 a0001c0003t0005g0120	4	278	0.0144	18	c.161 others(35): Show c.161-1836_161-1819dupATTATTATTATTATTATT	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	2/20			chr4	TogoVar
CAMK2D_chr4_113446032_113766738	113673994	G G	GTATTTTA others(11): Show GTATTTTAATAAAATAGTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00544.hp1 others(116): Show HG00099.hp2 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp1 HG01074.hp2 HG01123.hp2 HG01168.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01975.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03710.hp2 HG03834.hp1 HG04184.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18944.hp2 NA18949.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18960.hp2 NA18962.hp2 NA18968.hp1 NA18977.hp1 NA18980.hp1 NA18993.hp1 NA18995.hp1 NA19001.hp2 NA19002.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp1 NA19043.hp2 NA19065.hp1 NA19066.hp1 NA19072.hp2 NA19074.hp2 NA19084.hp1 NA19085.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0040 a0001c0001t0041 a0001c0001t0044 a0001c0001t0045 a0001c0001t0049 a0001c0001t0050 a0001c0001t0058 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0071 a0001c0001t0073 a0001c0001t0074 a0001c0001t0076 a0001c0001t0078 a0001c0003t0005 a0001c0005t0004 a0003c0006t0022	a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0071 others(115): Show a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0113 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0217 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0247 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0003g0084 a0001c0001t0003g0088 a0001c0001t0003g0125 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0078 a0001c0001t0004g0114 a0001c0001t0004g0117 a0001c0001t0004g0146 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0004g0179 a0001c0001t0005g0053 a0001c0001t0005g0115 a0001c0001t0005g0121 a0001c0001t0005g0156 a0001c0001t0005g0159 a0001c0001t0006g0222 a0001c0001t0007g0048 a0001c0001t0007g0165 a0001c0001t0007g0171 a0001c0001t0007g0172 a0001c0001t0009g0207 a0001c0001t0009g0214 a0001c0001t0009g0236 a0001c0001t0009g0244 a0001c0001t0010g0174 a0001c0001t0010g0175 a0001c0001t0011g0066 a0001c0001t0011g0145 a0001c0001t0012g0014 a0001c0001t0012g0020 a0001c0001t0012g0021 a0001c0001t0012g0022 a0001c0001t0012g0026 a0001c0001t0012g0027 a0001c0001t0013g0142 a0001c0001t0014g0127 a0001c0001t0014g0128 a0001c0001t0014g0129 a0001c0001t0014g0130 a0001c0001t0015g0227 a0001c0001t0016g0015 a0001c0001t0018g0215 a0001c0001t0018g0216 a0001c0001t0018g0230 a0001c0001t0020g0007 a0001c0001t0020g0008 a0001c0001t0021g0029 a0001c0001t0024g0033 a0001c0001t0024g0176 a0001c0001t0026g0079 a0001c0001t0026g0119 a0001c0001t0027g0037 a0001c0001t0027g0103 a0001c0001t0028g0090 a0001c0001t0028g0091 a0001c0001t0029g0185 a0001c0001t0029g0186 a0001c0001t0031g0251 a0001c0001t0032g0203 a0001c0001t0032g0205 a0001c0001t0034g0002 a0001c0001t0036g0003 a0001c0001t0040g0010 a0001c0001t0041g0009 a0001c0001t0044g0038 a0001c0001t0045g0080 a0001c0001t0049g0044 a0001c0001t0050g0155 a0001c0001t0058g0132 a0001c0001t0061g0122 a0001c0001t0062g0187 a0001c0001t0063g0188 a0001c0001t0065g0190 a0001c0001t0066g0270 a0001c0001t0067g0204 a0001c0001t0071g0210 a0001c0001t0073g0201 a0001c0001t0074g0248 a0001c0001t0076g0245 a0001c0001t0078g0219 a0001c0003t0005g0118 a0001c0003t0005g0120 a0001c0005t0004g0045 a0003c0006t0022g0024	119	278	0.4281	18	c.161 others(37): Show c.161-12223_161-12222insGACTATTTTATTAAAATA	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	2/20			chr4	TogoVar
CAMK2D_chr4_113446032_113766738	113709746	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01891.hp1 HG02257.hp2 others(1): Show HG01261.hp2 HG01891.hp1 HG02257.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0033	a0001c0001t0004g0164 a0001c0001t0005g0156 a0001c0001t0010g0174 others(1): Show a0001c0001t0004g0164 a0001c0001t0005g0156 a0001c0001t0010g0174 a0001c0001t0033g0249	4	278	0.0144	18	c.161 others(37): Show c.161-47992_161-47975dupATATATATATATATATAT	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	2/20			chr4	TogoVar
CAMK2G_chr10_73807501_73879555	73812076	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	280	0.0036	18	c.24 others(29): Show c.2441_*2442insAAAAAAAAAAAAAAAAAA	CAMK2G	ENSG00000148660.22	transcript	ENST00000423381.6	protein_coding		424		chr10	TogoVar
CAMK2G_chr10_73807501_73879555	73829700	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03098.hp1 HG02280.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0263 a0001c0001t0005g0271 a0001c0001t0003g0263 a0001c0001t0005g0271	2	280	0.0071	18	c.105 others(37): Show c.1054-1597_1054-1580dupACACACACACACACACAC	CAMK2G	ENSG00000148660.22	transcript	ENST00000423381.6	protein_coding	14/22			chr10	TogoVar
CAMK2G_chr10_73807501_73879555	73850799	A A	ATAGGACA others(11): Show ATAGGACACAGCCCAAGAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	280	0.0036	18	c.341 others(35): Show c.341+1437_341+1454dupCTCTTGGGCTGTGTCCTA	CAMK2G	ENSG00000148660.22	transcript	ENST00000423381.6	protein_coding	5/22			chr10	TogoVar
CAMK4_chr5_111219384_111499886	111302363	A A	AGTGGGCG others(11): Show AGTGGGCGCAGGCCAGTGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0240 a0001c0001t0093g0240	1	246	0.0041	18	c.162 others(37): Show c.162-41657_162-41640dupGGCGCAGGCCAGTGTGTG	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111406194	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0192 a0001c0001t0095g0192	1	246	0.0041	18	c.459 others(37): Show c.459+11425_459+11442dupTCTCTCTCTCTCTCTCTC	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111480249	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG01099.hp2 others(7): Show HG00735.hp1 HG00738.hp2 HG01099.hp2 HG01361.hp2 HG01978.hp1 HG02976.hp2 NA18522.hp2 NA18970.hp1 NA19030.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 others(7): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0001t0025 a0001c0001t0070 a0001c0001t0118 a0001c0001t0133 a0001c0001t0146 a0001c0001t0163 a0002c0003t0035	a0001c0001t0003g0194 a0001c0001t0007g0008 a0001c0001t0012g0165 others(7): Show a0001c0001t0003g0194 a0001c0001t0007g0008 a0001c0001t0012g0165 a0001c0001t0025g0184 a0001c0001t0070g0201 a0001c0001t0118g0028 a0001c0001t0133g0096 a0001c0001t0146g0022 a0001c0001t0163g0004 a0002c0003t0035g0143	10	246	0.0407	18	c.828 others(35): Show c.828+1765_828+1782dupACACACACACACACACAC	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMKK2_chr12_121232692_121301709	121268083	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01884.hp1 HG02280.hp2 others(5): Show HG00733.hp1 HG01884.hp1 HG02280.hp2 HG02486.hp1 HG02723.hp2 HG03195.hp2 HG06807.hp1 NA19030.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0007 a0001c0011 others(2): Show a0001c0001 a0001c0007 a0001c0011 a0002c0002 a0004c0005	a0001c0001t0002 a0001c0007t0001 a0001c0011t0006 others(2): Show a0001c0001t0002 a0001c0007t0001 a0001c0011t0006 a0002c0002t0001 a0004c0005t0002	a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 others(5): Show a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0007t0001g0263 a0001c0011t0006g0003 a0002c0002t0001g0060 a0002c0002t0001g0114 a0004c0005t0002g0018	8	330	0.0242	18	c.625 others(33): Show c.625+554_625+555insATATATATATATATATAT	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	5/16			chr12	TogoVar
CAMKMT_chr2_44356947_44777592	44497709	A A	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03831.hp1 NA18952.hp1 others(1): Show HG01934.hp1 HG03831.hp1 NA18952.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0001g0088 others(1): Show a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0001g0088 a0001c0001t0001g0094	4	198	0.0202	18	c.376 others(39): Show c.376+107421_376+107438dupAGAGAGAGAGAGAGAGAG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44503984	G G	GGAGAGAG others(11): Show GGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA20129.hp1 HG00738.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0113 a0001c0001t0002g0114	2	198	0.0101	18	c.376 others(39): Show c.376+113686_376+113703dupGAGAGAGAGAGAGAGAGA	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44614936	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02897.hp1 HG00280.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0164 a0001c0001t0001g0014 a0001c0001t0001g0164	2	198	0.0101	18	c.377 others(37): Show c.377-89340_377-89323dupTTTTTTTTTTTTTTTTTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44621271	A A	AAAAAAAA others(11): Show AAAAAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01169.hp2 HG01258.hp2 others(7): Show HG01099.hp2 HG01169.hp2 HG01258.hp2 HG02145.hp2 HG02451.hp2 HG02486.hp1 HG03041.hp2 NA19030.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0115 others(7): Show a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0115 a0001c0001t0002g0011 a0001c0001t0002g0023 a0001c0001t0002g0042 a0001c0001t0002g0047 a0001c0001t0002g0170 a0001c0001t0003g0104 a0001c0001t0003g0165	10	198	0.0505	18	c.377 others(37): Show c.377-83005_377-83004insTAAAATAAAATAAAAAAA	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMSAP1_chr9_135803487_135912546	135808711	G G	GGTGCACG others(11): Show GGTGCACGCACACAGCCAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0290 a0001c0002t0021g0290	1	340	0.0029	18	c.25 others(29): Show c.2580_*2597dupATGGCTGTGTGCGTGCAC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	17/17	2597		chr9	TogoVar
CAMSAP1_chr9_135803487_135912546	135892848	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG00741.hp1 others(20): Show HG00642.hp2 HG00735.hp2 HG00741.hp1 HG01255.hp2 HG02004.hp1 HG02300.hp1 HG02647.hp1 HG02698.hp1 HG02735.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03453.hp2 HG03486.hp2 HG03704.hp1 HG04184.hp1 NA18522.hp1 NA18961.hp1 NA19057.hp1 NA19081.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0021	a0001c0001t0001 a0001c0001t0002 a0001c0002t0021 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0021 a0001c0006t0001 a0001c0007t0009 a0001c0021t0016	a0001c0001t0001g0023 a0001c0001t0001g0104 a0001c0001t0001g0105 others(20): Show a0001c0001t0001g0023 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0261 a0001c0001t0001g0278 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0002t0021g0290 a0001c0006t0001g0062 a0001c0007t0009g0112 a0001c0021t0016g0030	23	340	0.0677	18	c.161 others(35): Show c.161-9788_161-9771dupTTTTTTTTTTTTTTTTTT	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	1/16			chr9	TogoVar
CAMSAP2_chr1_200733893_200865704	200814131	C C	CGGGGGGA others(11): Show CGGGGGGAGGGGTGGGCGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00423.hp2 others(67): Show HG00099.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00735.hp1 HG01099.hp1 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01358.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01981.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02615.hp2 HG02886.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03130.hp1 HG03471.hp1 HG03490.hp2 HG03704.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18950.hp2 NA18955.hp1 NA18963.hp2 NA18964.hp2 NA18970.hp2 NA18973.hp1 NA18975.hp1 NA18979.hp2 NA18982.hp2 NA18998.hp1 NA19000.hp1 NA19004.hp1 NA19011.hp2 NA19054.hp2 NA19068.hp1 NA19068.hp2 NA19078.hp1 NA19080.hp2 NA19087.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0011 others(3): Show a0001c0001 a0001c0002 a0001c0011 a0003c0004 a0004c0006 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0002t0002 a0001c0002t0015 a0001c0011t0002 a0003c0004t0008 a0004c0006t0016 a0006c0007t0003	a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0002g0184 others(67): Show a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0002g0184 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0039 a0001c0001t0003g0046 a0001c0001t0003g0050 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0068 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0083 a0001c0001t0003g0194 a0001c0001t0005g0085 a0001c0001t0005g0091 a0001c0001t0012g0003 a0001c0001t0012g0004 a0001c0002t0002g0092 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0097 a0001c0002t0002g0099 a0001c0002t0002g0104 a0001c0002t0002g0106 a0001c0002t0002g0112 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0127 a0001c0002t0002g0129 a0001c0002t0002g0132 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0141 a0001c0002t0002g0144 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0149 a0001c0002t0002g0159 a0001c0002t0002g0161 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0168 a0001c0002t0002g0173 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0182 a0001c0002t0002g0187 a0001c0002t0002g0189 a0001c0002t0015g0110 a0001c0011t0002g0100 a0003c0004t0008g0191 a0003c0004t0008g0192 a0004c0006t0016g0005 a0006c0007t0003g0037	70	366	0.1913	18	c.562 others(35): Show c.562-1428_562-1411dupGGGGGAGGGGTGGGCGGG	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200827676	T T	TATATTAT others(11): Show TATATTATTTTTCTAAATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(168): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18986.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp1 NA19006.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19078.hp1 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0006 a0008	a0001c0001 a0001c0002 a0001c0011 others(6): Show a0001c0001 a0001c0002 a0001c0011 a0003c0004 a0004c0005 a0004c0006 a0005c0010 a0006c0007 a0008c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(20): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0002t0002 a0001c0002t0010 a0001c0002t0011 a0001c0002t0013 a0001c0002t0015 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0011t0002 a0003c0004t0008 a0004c0005t0014 a0004c0006t0016 a0005c0010t0002 a0006c0007t0003 a0008c0009t0003	a0001c0001t0002g0184 a0001c0001t0003g0031 a0001c0001t0003g0032 others(168): Show a0001c0001t0002g0184 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0005g0084 a0001c0001t0005g0085 a0001c0001t0005g0087 a0001c0001t0005g0088 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0001t0005g0091 a0001c0001t0005g0185 a0001c0001t0008g0028 a0001c0001t0012g0003 a0001c0001t0012g0004 a0001c0001t0024g0051 a0001c0001t0025g0064 a0001c0001t0026g0081 a0001c0002t0002g0030 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0109 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0119 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0010g0105 a0001c0002t0010g0113 a0001c0002t0010g0114 a0001c0002t0011g0118 a0001c0002t0011g0120 a0001c0002t0013g0026 a0001c0002t0013g0027 a0001c0002t0015g0110 a0001c0002t0018g0150 a0001c0002t0019g0153 a0001c0002t0020g0172 a0001c0011t0002g0100 a0003c0004t0008g0191 a0003c0004t0008g0192 a0003c0004t0008g0193 a0004c0005t0014g0023 a0004c0005t0014g0024 a0004c0006t0016g0005 a0005c0010t0002g0108 a0006c0007t0003g0037 a0008c0009t0003g0029	171	366	0.4672	18	c.646 others(35): Show c.646-4511_646-4510insAAATAATATTATTTTTCT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP3_chr19_7590863_7623304	7605147	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00597.hp1 others(37): Show HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00673.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01258.hp1 HG01358.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG02071.hp2 HG02109.hp1 HG02280.hp2 HG02486.hp2 HG02683.hp1 HG02717.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp2 HG03225.hp2 HG03486.hp1 HG03516.hp1 NA18959.hp1 NA18964.hp1 NA18969.hp2 NA18977.hp1 NA18980.hp1 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19010.hp2 NA19043.hp1 NA19057.hp2 NA19084.hp1 NA19240.hp1 NA20752.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0010c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0010c0022t0001	a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0025 others(32): Show a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0163 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0237 a0001c0001t0002g0254 a0001c0001t0002g0260 a0001c0001t0002g0311 a0001c0001t0002g0321 a0001c0001t0005g0110 a0001c0001t0006g0098 a0001c0002t0001g0199 a0001c0003t0001g0058 a0001c0003t0001g0074 a0001c0003t0003g0004 a0001c0003t0003g0071 a0001c0003t0003g0072 a0010c0022t0001g0147	40	358	0.1117	18	c.149 others(31): Show c.149-66_149-49dupGTGTGTGTGTGTGTGTGT	CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAMTA1_chr1_6780454_7774706	6827508	A A	ATTATGTG others(11): Show ATTATGTGGCGATGATAGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02280.hp2 others(1): Show HG01884.hp2 HG02257.hp2 HG02280.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0002t0006	a0001c0001t0001g0007 a0001c0001t0002g0009 a0001c0002t0003g0006 others(1): Show a0001c0001t0001g0007 a0001c0001t0002g0009 a0001c0002t0003g0006 a0001c0002t0006g0008	4	58	0.0690	18	c.234 others(35): Show c.234+2298_234+2299insTTATGTGGCGATGATAGC	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22			chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7221922	C C	CACACACA others(11): Show CACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03453.hp2 NA19043.hp2 HG01243.hp1 HG03453.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0008 a0001c0001t0002 a0001c0003t0008	a0001c0001t0002g0002 a0001c0001t0002g0046 a0001c0003t0008g0032 a0001c0001t0002g0002 a0001c0001t0002g0046 a0001c0003t0008g0032	3	58	0.0517	18	c.303 others(37): Show c.303-27564_303-27563insCACACACACACATACACA	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7276303	A A	ATATATAT others(11): Show ATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	58	0.0172	18	c.438 others(37): Show c.438+26678_438+26679insATATATTTTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7335124	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02630.hp1 HG02647.hp1 others(7): Show HG01243.hp1 HG02630.hp1 HG02647.hp1 HG02922.hp1 HG03041.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03704.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0017	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(7): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020 a0001c0002t0001 a0001c0002t0010 a0001c0006t0005 a0001c0017t0026	a0001c0001t0002g0002 a0001c0001t0005g0038 a0001c0001t0008g0003 others(7): Show a0001c0001t0002g0002 a0001c0001t0005g0038 a0001c0001t0008g0003 a0001c0001t0013g0054 a0001c0001t0015g0037 a0001c0001t0020g0049 a0001c0002t0001g0020 a0001c0002t0010g0010 a0001c0006t0005g0057 a0001c0017t0026g0027	10	58	0.1724	18	c.438 others(37): Show c.438+85514_438+85515insTGTGTGTGTGTGTGTGTG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7688011	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0028 a0001c0003t0005g0028	1	58	0.0172	18	c.291 others(39): Show c.2914+10295_2914+10296insTTTTTTTTTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAND2_chr3_12791680_12839803	12812221	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03710.hp2 NA18967.hp1 others(3): Show HG03017.hp2 HG03710.hp2 NA18967.hp1 NA18985.hp2 NA18997.hp1 NA19007.hp2	a0008 a0012 a0018 others(1): Show a0008 a0012 a0018 a0022	a0008c0008 a0012c0014 a0018c0021 others(1): Show a0008c0008 a0012c0014 a0018c0021 a0022c0027	a0008c0008t0001 a0008c0008t0003 a0012c0014t0001 others(2): Show a0008c0008t0001 a0008c0008t0003 a0012c0014t0001 a0018c0021t0001 a0022c0027t0001	a0008c0008t0001g0012 a0008c0008t0003g0011 a0008c0008t0003g0037 others(3): Show a0008c0008t0001g0012 a0008c0008t0003g0011 a0008c0008t0003g0037 a0012c0014t0001g0038 a0018c0021t0001g0036 a0022c0027t0001g0025	6	378	0.0159	18	c.758 others(33): Show c.758-767_758-750dupTTTTTTTTTTTTTTTTTT	CAND2	ENSG00000144712.13	transcript	ENST00000456430.6	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CAND2_chr3_12791680_12839803	12825650	G G	GAGCTGGG others(11): Show GAGCTGGGGACCCAGGGGA	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA18963.hp1 NA18983.hp1 HG02602.hp1 NA18963.hp1 NA18983.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0170 a0005c0004t0001g0250 a0005c0004t0001g0297 a0005c0004t0001g0170 a0005c0004t0001g0250 a0005c0004t0001g0297	3	378	0.0079	18	c.321 others(33): Show c.3210+20_3210+37dupACCCAGGGGAAGCTGGGG	CAND2	ENSG00000144712.13	transcript	ENST00000456430.6	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CANX_chr5_179693967_179736641	179710707	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00597.hp1 others(53): Show HG00408.hp1 HG00408.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00738.hp2 HG01074.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02055.hp2 HG02083.hp1 HG02155.hp1 HG02165.hp1 HG02273.hp2 HG02523.hp1 HG02886.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03579.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp2 HG04228.hp1 NA18747.hp1 NA18941.hp2 NA18946.hp1 NA18947.hp2 NA18951.hp1 NA18952.hp2 NA18955.hp2 NA18959.hp2 NA18963.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp2 NA19004.hp1 NA19081.hp1 NA19084.hp2 NA19087.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0018 a0001c0001t0034	a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0098 others(41): Show a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0098 a0001c0001t0001g0123 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0176 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0003g0065 a0001c0001t0004g0004 a0001c0001t0004g0008 a0001c0001t0004g0020 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0131 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0169 a0001c0001t0004g0219 a0001c0001t0005g0017 a0001c0001t0006g0022 a0001c0001t0006g0175 a0001c0001t0006g0194 a0001c0001t0006g0205 a0001c0001t0006g0209 a0001c0001t0014g0218 a0001c0001t0018g0008 a0001c0001t0018g0200 a0001c0001t0034g0129	56	380	0.1474	18	c.721 others(33): Show c.721+658_721+659insAAAAAAAAAAAAAAAAAA	CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAP1_chr1_40035729_40077648	40049178	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19009.hp1 NA18995.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0190 a0001c0001t0003g0218 a0001c0001t0003g0190 a0001c0001t0003g0218	2	378	0.0053	18	c.-11 others(35): Show c.-11+8386_-11+8403dupTTTTTTTTTTTTTTTTTT	CAP1	ENSG00000131236.18	transcript	ENST00000372805.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAP1_chr1_40035729_40077648	40062773	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01433.hp1 HG01978.hp1 others(10): Show HG00280.hp1 HG01433.hp1 HG01978.hp1 HG02074.hp2 HG02280.hp2 HG02523.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG03688.hp2 HG03710.hp1 HG03834.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0015 a0001c0001t0004 a0001c0002t0015	a0001c0001t0004g0136 a0001c0001t0004g0138 a0001c0001t0004g0142 others(9): Show a0001c0001t0004g0136 a0001c0001t0004g0138 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0146 a0001c0001t0004g0152 a0001c0001t0004g0159 a0001c0001t0004g0161 a0001c0001t0004g0168 a0001c0001t0004g0172 a0001c0001t0004g0175 a0001c0002t0015g0045	13	378	0.0344	18	c.294 others(33): Show c.294+969_294+986dupGTGTGTGTGTGTGTGTGT	CAP1	ENSG00000131236.18	transcript	ENST00000372805.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAP2_chr6_17388595_17562780	17406398	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01361.hp1 HG02027.hp2 others(16): Show HG01192.hp1 HG01361.hp1 HG02027.hp2 HG02135.hp2 HG02258.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG03669.hp1 HG03831.hp1 HG03927.hp1 HG04228.hp2 NA18612.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18982.hp2 NA18992.hp2 NA19003.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0005t0001	a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0018 others(16): Show a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0178 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0037 a0001c0001t0002g0045 a0001c0001t0002g0177 a0001c0003t0001g0038 a0002c0005t0001g0003 a0002c0005t0001g0203	19	206	0.0922	18	c.-2+ others(35): Show c.-2+12667_-2+12668insTTTTTTTTTTTTTTTTTT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17461992	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA18990.hp1 NA18992.hp1 others(1): Show HG01168.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0001t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0001g0143 a0001c0001t0002g0030 a0001c0001t0002g0150 others(1): Show a0001c0001t0001g0143 a0001c0001t0002g0030 a0001c0001t0002g0150 a0001c0006t0001g0120	4	206	0.0194	18	c.223 others(33): Show c.223-990_223-973dupAAAAAAAAAAAAAAAAAA	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17500340	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp1 HG01516.hp2 others(11): Show HG00735.hp1 HG01109.hp1 HG01516.hp2 HG01517.hp2 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03491.hp2 NA18612.hp1 NA18747.hp1 NA18972.hp1 NA18982.hp1 NA18990.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0006t0001	a0001c0001t0001g0032 a0001c0001t0001g0048 a0001c0001t0001g0103 others(11): Show a0001c0001t0001g0032 a0001c0001t0001g0048 a0001c0001t0001g0103 a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0002g0141 a0001c0001t0002g0157 a0001c0001t0002g0175 a0001c0001t0005g0200 a0001c0002t0001g0100 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0006t0001g0033	14	206	0.0680	18	c.301 others(35): Show c.301-6802_301-6785dupATATATATATATATATAT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182042	C C	CACACTCA others(11): Show CACACTCACACACACACAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00544.hp2 others(42): Show HG00140.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG01167.hp2 HG01975.hp2 HG02027.hp2 HG02083.hp1 HG02132.hp1 HG02273.hp2 HG02300.hp2 HG02738.hp1 HG03491.hp1 HG03492.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG04204.hp2 HG04228.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18948.hp1 NA18955.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18970.hp2 NA18977.hp1 NA18978.hp1 NA18981.hp2 NA18985.hp1 NA18994.hp1 NA18998.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19012.hp2 NA19054.hp2 NA19064.hp1 NA19068.hp1 NA19070.hp1 NA19080.hp2 NA19081.hp2 NA20905.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0001 a0002c0002 a0005c0010 others(1): Show a0001c0001 a0002c0002 a0005c0010 a0009c0009	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0002c0002t0002 a0005c0010t0005 a0009c0009t0001	a0001c0001t0001g0004 a0001c0001t0001g0293 a0001c0001t0005g0214 others(41): Show a0001c0001t0001g0004 a0001c0001t0001g0293 a0001c0001t0005g0214 a0001c0001t0005g0291 a0001c0001t0005g0340 a0002c0002t0001g0040 a0002c0002t0001g0060 a0002c0002t0001g0069 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0079 a0002c0002t0001g0082 a0002c0002t0001g0096 a0002c0002t0001g0117 a0002c0002t0001g0119 a0002c0002t0001g0132 a0002c0002t0001g0134 a0002c0002t0001g0145 a0002c0002t0001g0159 a0002c0002t0001g0175 a0002c0002t0001g0181 a0002c0002t0001g0199 a0002c0002t0001g0215 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0239 a0002c0002t0001g0260 a0002c0002t0001g0318 a0002c0002t0001g0348 a0002c0002t0001g0356 a0002c0002t0001g0358 a0002c0002t0001g0375 a0002c0002t0001g0397 a0002c0002t0001g0398 a0002c0002t0001g0404 a0002c0002t0001g0409 a0002c0002t0001g0415 a0002c0002t0002g0343 a0005c0010t0005g0038 a0005c0010t0005g0139 a0005c0010t0005g0227 a0009c0009t0001g0268 a0009c0009t0001g0269 a0009c0009t0001g0369	45	460	0.0978	18	c.193 others(35): Show c.1938+726_1938+727insTCACACACACACATACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN12_chr19_38725192_38749474	38735639	G G	GGTAGGGA others(11): Show GGTAGGGACCGTAGGGACC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02040.hp1 HG02055.hp2 others(19): Show HG02015.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02132.hp1 HG03017.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG04184.hp1 HG04228.hp2 NA18612.hp2 NA18941.hp1 NA18970.hp2 NA18993.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19079.hp2 NA19084.hp1 NA19091.hp1	a0001 a0004 a0012 a0001 a0004 a0012	a0001c0001 a0001c0026 a0004c0008 others(1): Show a0001c0001 a0001c0026 a0004c0008 a0012c0032	a0001c0001t0005 a0001c0026t0005 a0004c0008t0005 others(1): Show a0001c0001t0005 a0001c0026t0005 a0004c0008t0005 a0012c0032t0005	a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0285 others(19): Show a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0001t0005g0287 a0001c0001t0005g0289 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0296 a0001c0001t0005g0298 a0001c0001t0005g0299 a0001c0001t0005g0303 a0001c0001t0005g0305 a0001c0001t0005g0306 a0001c0001t0005g0309 a0001c0026t0005g0304 a0004c0008t0005g0288 a0012c0032t0005g0302	22	342	0.0643	18	c.158 others(33): Show c.1584-96_1584-95insGGTCCCTACGGTCCCTAC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38736008	A A	AGGTCTCG others(11): Show AGGTCTCGGGGGTCTCGGG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01975.hp2 HG03017.hp1 others(6): Show HG01099.hp1 HG01975.hp2 HG03017.hp1 HG03041.hp2 HG03471.hp1 HG04115.hp2 NA18522.hp1 NA19091.hp1 NA20129.hp2	a0001 a0003 a0013 others(1): Show a0001 a0003 a0013 a0024	a0001c0001 a0003c0005 a0013c0030 others(1): Show a0001c0001 a0003c0005 a0013c0030 a0024c0018	a0001c0001t0001 a0001c0001t0005 a0003c0005t0004 others(2): Show a0001c0001t0001 a0001c0001t0005 a0003c0005t0004 a0013c0030t0007 a0024c0018t0004	a0001c0001t0001g0239 a0001c0001t0005g0290 a0001c0001t0005g0292 others(6): Show a0001c0001t0001g0239 a0001c0001t0005g0290 a0001c0001t0005g0292 a0003c0005t0004g0023 a0003c0005t0004g0028 a0003c0005t0004g0034 a0003c0005t0004g0035 a0013c0030t0007g0300 a0024c0018t0004g0039	9	342	0.0263	18	c.158 others(34): Show c.1583+84_1583+101dupCCCGAGACCCCCGAGACC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38736842	T T	TCTGTCCC others(11): Show TCTGTCCCTGAGCCCCTCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02647.hp2 HG02896.hp2 others(2): Show HG01109.hp2 HG02647.hp2 HG02896.hp2 HG02897.hp1 HG03453.hp1	a0006 a0006	a0006c0009 a0006c0029 a0006c0009 a0006c0029	a0006c0009t0003 a0006c0029t0003 a0006c0009t0003 a0006c0029t0003	a0006c0009t0003g0009 a0006c0009t0003g0264 a0006c0029t0003g0308 a0006c0009t0003g0009 a0006c0009t0003g0264 a0006c0029t0003g0308	5	342	0.0146	18	c.136 others(35): Show c.1362+296_1363-280dupGGAGGGGCTCAGGGACAG	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	10/20			chr19	TogoVar
CAPN13_chr2_30717771_30812446	30800116	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19081.hp1 NA19030.hp2 NA19081.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0002 a0001c0001t0002 a0003c0004t0002	a0001c0001t0002g0115 a0003c0004t0002g0013 a0001c0001t0002g0115 a0003c0004t0002g0013	2	384	0.0052	18	c.-33 others(35): Show c.-33+7185_-33+7186insCTTTCTTTCTTTCTTTCT	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN14_chr2_31168056_31222515	31179060	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0288 a0001c0003t0015g0288	1	326	0.0031	18	c.171 others(35): Show c.1711-499_1711-482dupTATATATATATATATATA	CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	17/21			chr2	TogoVar
CAPN14_chr2_31168056_31222515	31190137	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA19086.hp2 HG02738.hp1 NA19086.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0007 a0002c0002 a0006c0007	a0002c0002t0020 a0006c0007t0008 a0002c0002t0020 a0006c0007t0008	a0002c0002t0020g0296 a0006c0007t0008g0277 a0002c0002t0020g0296 a0006c0007t0008g0277	2	326	0.0061	18	c.128 others(35): Show c.1288-677_1288-660dupGAGAGAGAGAGAGAGAGA	CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	12/21			chr2	TogoVar
CAPN15_chr16_522712_559636	544076	C C	CGGCGGCT others(11): Show CGGCGGCTCAGCACTGAGA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0320 a0003c0014t0001g0320	1	410	0.0024	18	c.-22 others(35): Show c.-22-2728_-22-2727insTGAGAGGCGGCTCAGCAC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544874	T T	TCACGTCG others(11): Show TCACGTCGTCGTCTCCCCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG01099.hp2 others(7): Show HG00741.hp2 HG01069.hp1 HG01099.hp2 HG01256.hp1 HG01258.hp1 HG01515.hp2 HG02698.hp2 NA18948.hp2 NA19080.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0013	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0003t0001 a0001c0003t0003 a0001c0004t0003 a0001c0013t0003	a0001c0001t0001g0240 a0001c0001t0003g0208 a0001c0002t0003g0241 others(5): Show a0001c0001t0001g0240 a0001c0001t0003g0208 a0001c0002t0003g0241 a0001c0003t0001g0093 a0001c0003t0003g0003 a0001c0004t0003g0001 a0001c0013t0003g0324 a0001c0013t0003g0325	10	410	0.0244	18	c.-22 others(35): Show c.-22-1925_-22-1908dupCCACGTCGTCGTCTCCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN2_chr1_223707539_223781018	223719831	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0355 a0002c0016t0001g0355	1	378	0.0027	18	c.307 others(35): Show c.307+2001_307+2002insTGTGTGTGTGTGTGTGCG	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN3_chr15_42354501_42417317	42380728	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18612.hp2 NA18954.hp2 HG01891.hp2 NA18612.hp2 NA18954.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0001 a0001c0001t0001 a0004c0007t0001	a0001c0001t0001g0209 a0001c0001t0001g0261 a0004c0007t0001g0211 a0001c0001t0001g0209 a0001c0001t0001g0261 a0004c0007t0001g0211	3	306	0.0098	18	c.310 others(35): Show c.310-3748_310-3731dupATATATATATATATATAT	CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
CAPN5_chr11_77061971_77131155	77067632	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG02055.hp1 others(7): Show HG00609.hp1 HG00673.hp1 HG02055.hp1 HG02615.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 NA18959.hp1 NA19030.hp1 NA19076.hp1	a0001 a0010 a0013 a0001 a0010 a0013	a0001c0001 a0010c0018 a0013c0022 a0001c0001 a0010c0018 a0013c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0015 a0001c0001t0019 a0010c0018t0004 a0013c0022t0003	a0001c0001t0001g0175 a0001c0001t0002g0105 a0001c0001t0002g0106 others(7): Show a0001c0001t0001g0175 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0178 a0001c0001t0005g0172 a0001c0001t0011g0176 a0001c0001t0015g0173 a0001c0001t0019g0174 a0010c0018t0004g0107 a0013c0022t0003g0177	10	382	0.0262	18	c.-36 others(33): Show c.-36+559_-36+576dupGTGTGTGTGTGTGTGTGT	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN5_chr11_77061971_77131155	77125614	C C	CTATATAT others(11): Show CTATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0044 a0001c0019t0044	a0001c0019t0044g0228 a0001c0019t0044g0228	1	382	0.0026	18	c.17 others(29): Show c.1753_*1770dupTATATATATATATATATA	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	13/13	1771	INFO_REALIGN_3_PRIME	chr11	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)