Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CAMTA1_chr1_6780454_7774706	7579552	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0032 a0001c0003t0008g0032	1	58	0.0172	12	c.511 others(31): Show c.511-60834_511-60823dupTTTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7594200	G G	GGGAAGGA others(5): Show GGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp2 HG02922.hp2 others(3): Show HG02451.hp2 HG02622.hp2 HG02922.hp2 HG03041.hp2 HG03225.hp1 HG03486.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0001c0015 a0005c0013	a0001c0001t0005 a0001c0002t0004 a0001c0006t0005 others(3): Show a0001c0001t0005 a0001c0002t0004 a0001c0006t0005 a0001c0010t0004 a0001c0015t0006 a0005c0013t0009	a0001c0001t0005g0038 a0001c0002t0004g0030 a0001c0006t0005g0057 others(3): Show a0001c0001t0005g0038 a0001c0002t0004g0030 a0001c0006t0005g0057 a0001c0010t0004g0031 a0001c0015t0006g0043 a0005c0013t0009g0033	6	58	0.1035	12	c.511 others(31): Show c.511-46170_511-46159dupGAAGGAAGGAAG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7668388	A A	AACACACA others(5): Show AACACACACAAAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0006 a0001c0002t0003g0006	1	58	0.0172	12	c.265 others(31): Show c.2653-2514_2653-2513insAACACACACACA	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7688011	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02647.hp1 HG03041.hp2 HG01243.hp2 HG02647.hp1 HG03041.hp2	a0001 a0005 a0001 a0005	a0001c0005 a0001c0017 a0005c0013 a0001c0005 a0001c0017 a0005c0013	a0001c0005t0005 a0001c0017t0026 a0005c0013t0009 a0001c0005t0005 a0001c0017t0026 a0005c0013t0009	a0001c0005t0005g0044 a0001c0017t0026g0027 a0005c0013t0009g0033 a0001c0005t0005g0044 a0001c0017t0026g0027 a0005c0013t0009g0033	3	58	0.0517	12	c.291 others(33): Show c.2914+10284_2914+10295dupTTTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA2_chr17_4962997_4992675	4965826	G G	GTTTATTT others(5): Show GTTTATTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG03834.hp2 NA18953.hp1 others(6): Show HG02148.hp2 HG03834.hp2 NA18953.hp1 NA18968.hp1 NA18973.hp1 NA18975.hp1 NA19057.hp2 NA19060.hp1 NA20805.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0008 a0001c0005t0001g0010 a0001c0005t0001g0027 others(5): Show a0001c0005t0001g0008 a0001c0005t0001g0010 a0001c0005t0001g0027 a0001c0005t0001g0110 a0001c0005t0001g0113 a0001c0005t0001g0114 a0001c0005t0001g0116 a0001c0005t0001g0118	9	380	0.0237	12	c.29 others(23): Show c.2918_*2929dupTAAATAAATAAA	CAMTA2	ENSG00000108509.21	transcript	ENST00000348066.8	protein_coding		2170		chr17	TogoVar
CAND2_chr3_12791680_12839803	12812221	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00423.hp2 others(65): Show HG00099.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00621.hp2 HG00735.hp2 HG01081.hp1 HG01123.hp1 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01515.hp1 HG01884.hp1 HG01978.hp1 HG02055.hp1 HG02074.hp1 HG02080.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03490.hp1 HG03654.hp1 HG03654.hp2 HG03927.hp2 NA18522.hp1 NA18747.hp2 NA18947.hp2 NA18963.hp2 NA18972.hp2 NA18974.hp1 NA18982.hp2 NA18985.hp1 NA18989.hp2 NA18997.hp2 NA18998.hp1 NA19005.hp1 NA19043.hp1 NA19066.hp2 NA19080.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0007 a0010 a0019 a0025 a0029 a0030	a0001c0007 a0003c0002 a0003c0024 others(9): Show a0001c0007 a0003c0002 a0003c0024 a0004c0003 a0004c0032 a0007c0011 a0010c0012 a0010c0042 a0019c0025 a0025c0030 a0029c0043 a0030c0040	a0001c0007t0001 a0003c0002t0001 a0003c0002t0002 others(16): Show a0001c0007t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0003c0002t0004 a0003c0002t0005 a0003c0002t0006 a0003c0024t0003 a0004c0003t0001 a0004c0003t0005 a0004c0032t0001 a0007c0011t0001 a0010c0012t0001 a0010c0042t0001 a0019c0025t0001 a0019c0025t0002 a0025c0030t0001 a0029c0043t0003 a0030c0040t0001	a0001c0007t0001g0016 a0003c0002t0001g0002 a0003c0002t0001g0043 others(63): Show a0001c0007t0001g0016 a0003c0002t0001g0002 a0003c0002t0001g0043 a0003c0002t0001g0044 a0003c0002t0001g0048 a0003c0002t0001g0049 a0003c0002t0001g0070 a0003c0002t0001g0072 a0003c0002t0001g0073 a0003c0002t0001g0075 a0003c0002t0001g0082 a0003c0002t0001g0083 a0003c0002t0001g0084 a0003c0002t0001g0087 a0003c0002t0001g0088 a0003c0002t0001g0113 a0003c0002t0001g0124 a0003c0002t0001g0205 a0003c0002t0001g0206 a0003c0002t0002g0040 a0003c0002t0002g0138 a0003c0002t0003g0042 a0003c0002t0003g0071 a0003c0002t0004g0086 a0003c0002t0005g0122 a0003c0002t0006g0116 a0003c0002t0006g0119 a0003c0024t0003g0068 a0003c0024t0003g0111 a0004c0003t0001g0003 a0004c0003t0001g0004 a0004c0003t0001g0041 a0004c0003t0001g0051 a0004c0003t0001g0054 a0004c0003t0001g0055 a0004c0003t0001g0060 a0004c0003t0001g0061 a0004c0003t0001g0062 a0004c0003t0001g0064 a0004c0003t0001g0074 a0004c0003t0001g0076 a0004c0003t0001g0081 a0004c0003t0001g0102 a0004c0003t0001g0103 a0004c0003t0001g0106 a0004c0003t0001g0107 a0004c0003t0001g0108 a0004c0003t0001g0126 a0004c0003t0001g0127 a0004c0003t0005g0063 a0004c0003t0005g0117 a0004c0003t0005g0118 a0004c0003t0005g0121 a0004c0032t0001g0069 a0007c0011t0001g0085 a0007c0011t0001g0204 a0010c0012t0001g0004 a0010c0012t0001g0078 a0010c0012t0001g0079 a0010c0012t0001g0080 a0010c0042t0001g0046 a0019c0025t0001g0077 a0019c0025t0002g0105 a0025c0030t0001g0141 a0029c0043t0003g0067 a0030c0040t0001g0112	68	378	0.1799	12	c.758 others(27): Show c.758-761_758-750dupTTTTTTTTTTTT	CAND2	ENSG00000144712.13	transcript	ENST00000456430.6	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CANT1_chr17_78986716_79014764	79014516	A A	ACGGAGGA others(5): Show ACGGAGGAGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	394	0.0025	12	c.-50 others(23): Show c.-5000_-4999insCCTCCTCCTCCG	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding		4753		chr17	TogoVar
CAP1_chr1_40035729_40077648	40049178	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	378	0.0027	12	c.-11 others(29): Show c.-11+8392_-11+8403dupTTTTTTTTTTTT	CAP1	ENSG00000131236.18	transcript	ENST00000372805.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAP1_chr1_40035729_40077648	40054193	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG04184.hp1 HG02300.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0211 a0001c0001t0003g0216 a0001c0001t0003g0211 a0001c0001t0003g0216	2	378	0.0053	12	c.-10 others(29): Show c.-10-5141_-10-5130dupTTTTTTTTTTTT	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(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG01175.hp1 others(68): Show HG00408.hp2 HG00597.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG02015.hp1 HG02135.hp2 HG02257.hp1 HG02300.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG02738.hp1 HG02965.hp1 HG03017.hp1 HG03098.hp1 HG03209.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18969.hp2 NA18970.hp1 NA18977.hp1 NA18981.hp1 NA18995.hp1 NA18999.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19065.hp1 NA19068.hp1 NA19080.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA20129.hp2 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0003 a0001c0001t0012 a0001c0001t0018 others(5): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0002t0010 a0001c0008t0001	a0001c0001t0003g0006 a0001c0001t0003g0019 a0001c0001t0003g0020 others(53): Show a0001c0001t0003g0006 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0225 a0001c0001t0003g0227 a0001c0001t0003g0229 a0001c0001t0003g0231 a0001c0001t0012g0182 a0001c0001t0012g0191 a0001c0001t0012g0228 a0001c0001t0018g0224 a0001c0001t0019g0230 a0001c0001t0020g0194 a0001c0001t0021g0183 a0001c0002t0010g0046 a0001c0002t0010g0047 a0001c0008t0001g0187	71	378	0.1878	12	c.294 others(27): Show c.294+975_294+986dupGTGTGTGTGTGT	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(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03239.hp1 HG02738.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0010 a0001c0002t0001g0011 a0001c0001t0002g0010 a0001c0002t0001g0011	2	206	0.0097	12	c.-2+ others(29): Show c.-2+12656_-2+12667dupTTTTTTTTTTTT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17436067	A A	ATCTTTCT others(5): Show ATCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	206	0.0049	12	c.222 others(29): Show c.222+9388_222+9399dupTTTCTTTCTTTC	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17436078	T T	TTTCCTTC others(5): Show TTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0092 a0001c0013t0001g0092	1	206	0.0049	12	c.222 others(29): Show c.222+9391_222+9392insCTTCCTTCCTTC	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17436082	T T	TTTCCTTC others(5): Show TTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03130.hp2 HG03195.hp1 others(4): Show HG01496.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03540.hp1 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0007	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0003c0007t0001	a0001c0001t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0130 others(4): Show a0001c0001t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0130 a0001c0003t0001g0065 a0001c0003t0002g0131 a0003c0007t0001g0066 a0003c0007t0001g0205	7	206	0.0340	12	c.222 others(29): Show c.222+9395_222+9396insCTTCCTTCCTTC	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17436086	T T	TTTCCTTC others(5): Show TTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02818.hp1 HG02976.hp2 others(1): Show HG02717.hp2 HG02818.hp1 HG02976.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0003t0001 a0002c0004t0002 a0001c0001t0001 a0001c0003t0001 a0002c0004t0002	a0001c0001t0001g0068 a0001c0003t0001g0091 a0002c0004t0002g0077 others(1): Show a0001c0001t0001g0068 a0001c0003t0001g0091 a0002c0004t0002g0077 a0002c0004t0002g0079	4	206	0.0194	12	c.222 others(29): Show c.222+9421_222+9432dupTTCCTTCCTTCC	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17436086	T T	TTTCTTTC others(5): Show TTTCTTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00642.hp2 others(47): Show HG00099.hp1 HG00099.hp2 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01071.hp1 HG01106.hp1 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG02027.hp2 HG02071.hp1 HG02083.hp1 HG02132.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG03017.hp1 HG03490.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG04204.hp2 NA18906.hp1 NA18954.hp2 NA18962.hp2 NA18972.hp2 NA18973.hp1 NA18990.hp2 NA18998.hp2 NA19068.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(47): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0127 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0102 a0001c0001t0002g0141 a0001c0001t0002g0168 a0001c0002t0001g0006 a0001c0002t0001g0035 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0125 a0001c0002t0001g0128 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0187 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0002g0111 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0003t0001g0038 a0001c0006t0001g0033	50	206	0.2427	12	c.222 others(29): Show c.222+9399_222+9400insTTTCCTTCCTTC	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17438433	G G	GTTTTGTT others(5): Show GTTTTGTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02897.hp1 HG02970.hp1 others(5): Show HG01361.hp2 HG02897.hp1 HG02970.hp1 HG03041.hp2 HG03453.hp1 HG03540.hp2 HG03579.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0001c0011 a0001c0014	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0009t0001 a0001c0011t0002 a0001c0014t0008	a0001c0001t0001g0076 a0001c0003t0001g0082 a0001c0003t0002g0060 others(5): Show a0001c0001t0001g0076 a0001c0003t0001g0082 a0001c0003t0002g0060 a0001c0003t0002g0064 a0001c0003t0002g0080 a0001c0009t0001g0014 a0001c0011t0002g0081 a0001c0014t0008g0015	8	206	0.0388	12	c.222 others(31): Show c.222+11747_222+11748insGTTTTTTTTTTT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17444804	C C	CCACACAC others(5): Show CCACACACACACA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02970.hp2 HG02486.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0050 a0001c0002t0001g0198 a0001c0001t0002g0050 a0001c0002t0001g0198	2	206	0.0097	12	c.222 others(31): Show c.222+18143_223-18152dupCACACACACACA	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17499848	C C	CATAAATA others(5): Show CATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp2 HG01517.hp1 others(20): Show HG01361.hp1 HG01361.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG02109.hp2 HG02258.hp1 HG02293.hp1 HG02615.hp2 HG02735.hp1 HG03927.hp1 NA18522.hp1 NA18747.hp2 NA18962.hp1 NA18962.hp2 NA18973.hp1 NA18998.hp2 NA19068.hp2 NA20129.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0014 others(1): Show a0001c0001 a0001c0002 a0001c0014 a0002c0012	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0014t0008 a0002c0012t0001	a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0025 others(20): Show a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0069 a0001c0002t0001g0002 a0001c0002t0001g0062 a0001c0002t0001g0108 a0001c0002t0001g0130 a0001c0002t0001g0166 a0001c0002t0002g0111 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0160 a0001c0002t0002g0167 a0001c0014t0008g0015 a0002c0012t0001g0013	23	206	0.1117	12	c.301 others(29): Show c.301-7299_301-7288dupTAAATAAATAAA	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17500340	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01109.hp2 HG01167.hp1 others(25): Show HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01243.hp2 HG01361.hp1 HG01496.hp2 HG01884.hp1 HG02055.hp2 HG02145.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02922.hp1 HG02970.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 NA18962.hp2 NA18995.hp1 NA19043.hp2 NA19057.hp1 NA20129.hp1 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0002c0004 a0002c0005 a0003c0007 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0008t0001 a0002c0004t0002 a0002c0005t0003 a0003c0007t0001 a0005c0015t0001	a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0075 others(25): Show a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0127 a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0002g0055 a0001c0002t0001g0011 a0001c0002t0001g0035 a0001c0002t0001g0093 a0001c0002t0001g0101 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0193 a0001c0002t0001g0198 a0001c0002t0002g0118 a0001c0002t0002g0129 a0001c0003t0001g0065 a0001c0003t0002g0131 a0001c0008t0001g0204 a0002c0004t0002g0182 a0002c0005t0003g0170 a0003c0007t0001g0110 a0003c0007t0001g0119 a0005c0015t0001g0070	28	206	0.1359	12	c.301 others(29): Show c.301-6796_301-6785dupATATATATATAT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17529651	A A	AAAAAAAA others(5): Show AAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03834.hp1 HG01361.hp2 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0014 a0001c0002 a0001c0014	a0001c0002t0001 a0001c0014t0008 a0001c0002t0001 a0001c0014t0008	a0001c0002t0001g0019 a0001c0014t0008g0015 a0001c0002t0001g0019 a0001c0014t0008g0015	2	206	0.0097	12	c.637 others(29): Show c.637-9617_637-9616insAAAAAAAATATA	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17529651	A A	AAAAAAAA others(5): Show AAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03831.hp2 HG02055.hp2 HG03831.hp2	a0001 a0006 a0001 a0006	a0001c0008 a0006c0016 a0001c0008 a0006c0016	a0001c0008t0001 a0006c0016t0001 a0001c0008t0001 a0006c0016t0001	a0001c0008t0001g0204 a0006c0016t0001g0194 a0001c0008t0001g0204 a0006c0016t0001g0194	2	206	0.0097	12	c.637 others(29): Show c.637-9617_637-9616insAAAAAATATATA	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPG_chr2_85389753_85415366	85408338	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01168.hp1 HG01516.hp1 others(7): Show HG00609.hp2 HG01168.hp1 HG01516.hp1 HG01517.hp2 HG02451.hp2 HG02698.hp1 HG03704.hp1 NA19240.hp1 NA20752.hp2 NA20805.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0003c0004 a0003c0006 others(2): Show a0001c0002 a0003c0004 a0003c0006 a0003c0008 a0005c0007	a0001c0002t0001 a0003c0004t0001 a0003c0006t0001 others(2): Show a0001c0002t0001 a0003c0004t0001 a0003c0006t0001 a0003c0008t0001 a0005c0007t0001	a0001c0002t0001g0075 a0001c0002t0001g0213 a0001c0002t0001g0230 others(7): Show a0001c0002t0001g0075 a0001c0002t0001g0213 a0001c0002t0001g0230 a0003c0004t0001g0200 a0003c0006t0001g0062 a0003c0006t0001g0077 a0003c0006t0001g0078 a0003c0006t0001g0079 a0003c0008t0001g0076 a0005c0007t0001g0199	10	410	0.0244	12	c.-14 others(29): Show c.-14+1967_-14+1978dupTGTGTGTGTGTG	CAPG	ENSG00000042493.16	transcript	ENST00000263867.9	protein_coding	1/9			chr2	TogoVar
CAPN11_chr6_44153820_44189401	44177475	C C	CCTTTCTT others(5): Show CCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0276 a0002c0002t0001g0276	1	460	0.0022	12	c.141 others(27): Show c.1416+64_1416+75dupCTTTCTTTCTTT	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181574	C C	CCACACTC others(5): Show CCACACTCACACA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02451.hp1 HG03130.hp1 others(1): Show HG01257.hp2 HG02451.hp1 HG03130.hp1 HG03453.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0002 a0004c0004t0001 a0003c0003t0002 a0004c0004t0001	a0003c0003t0002g0090 a0003c0003t0002g0124 a0003c0003t0002g0125 others(1): Show a0003c0003t0002g0090 a0003c0003t0002g0124 a0003c0003t0002g0125 a0004c0004t0001g0042	4	460	0.0087	12	c.193 others(29): Show c.1938+259_1938+260insTCACACACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182041	C C	CCACACTC others(5): Show CCACACTCACACA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0235 a0004c0004t0002g0235	1	460	0.0022	12	c.193 others(29): Show c.1938+726_1938+727insTCACACACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182049	A A	ACACACAC others(5): Show ACACACACACACT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	460	0.0022	12	c.193 others(29): Show c.1938+733_1938+734insCACACACTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182049	A A	ACACATAC others(5): Show ACACATACACACT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp2 HG02723.hp2 others(2): Show HG02109.hp1 HG02451.hp2 HG02723.hp2 HG03098.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0205 a0001c0001t0001g0206 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208	5	460	0.0109	12	c.193 others(29): Show c.1938+737_1938+738insCACTCACATACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN12_chr19_38725192_38749474	38726410	T T	TAGGGGCC others(5): Show TAGGGGCCCACAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0158 a0001c0002t0002g0158	1	342	0.0029	12	c.44 others(23): Show c.4430_*4441dupCTGTGGGCCCCT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding		3781		chr19	TogoVar
CAPN12_chr19_38725192_38749474	38728410	G G	GCTCCTCC others(5): Show GCTCCTCCTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00733.hp1 others(30): Show HG00099.hp2 HG00140.hp1 HG00733.hp1 HG00738.hp2 HG01074.hp1 HG01081.hp2 HG01175.hp2 HG01358.hp1 HG01496.hp2 HG01934.hp1 HG01943.hp1 HG01981.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG03239.hp1 HG03239.hp2 HG03492.hp2 HG04115.hp1 NA18959.hp2 NA18964.hp2 NA18995.hp2 NA18998.hp1 NA19011.hp1 NA19030.hp1 NA19077.hp1 NA19077.hp2 NA19090.hp2 NA20129.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0013 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0017 a0001c0002t0002 a0003c0005t0004	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0012 others(25): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0001g0150 a0001c0001t0013g0044 a0001c0001t0017g0133 a0001c0002t0002g0195 a0003c0005t0004g0032	33	342	0.0965	12	c.24 others(23): Show c.2430_*2441dupGAGGAGGAGGAG	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding		1781		chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735955	G G	GGCGGGGC others(5): Show GGCGGGGCGGGGC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0060 a0002c0004t0001g0060	1	342	0.0029	12	c.158 others(29): Show c.1583+154_1583+155insGCCCCGCCCCGC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38742850	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp1 HG01192.hp2 others(13): Show HG00642.hp2 HG01109.hp1 HG01192.hp2 HG02040.hp1 HG02055.hp2 HG03017.hp1 HG03516.hp2 HG03669.hp1 HG03704.hp2 HG03942.hp1 HG04184.hp1 NA18612.hp2 NA18993.hp1 NA19011.hp2 NA19091.hp1 NA20129.hp2	a0001 a0002 a0012 others(2): Show a0001 a0002 a0012 a0013 a0014	a0001c0001 a0002c0004 a0012c0032 others(2): Show a0001c0001 a0002c0004 a0012c0032 a0013c0030 a0014c0031	a0001c0001t0005 a0001c0001t0007 a0002c0004t0001 others(3): Show a0001c0001t0005 a0001c0001t0007 a0002c0004t0001 a0012c0032t0005 a0013c0030t0007 a0014c0031t0007	a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0005g0292 others(13): Show a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0296 a0001c0001t0005g0298 a0001c0001t0005g0299 a0001c0001t0005g0309 a0001c0001t0007g0297 a0002c0004t0001g0072 a0002c0004t0001g0073 a0012c0032t0005g0302 a0013c0030t0007g0300 a0014c0031t0007g0301	16	342	0.0468	12	c.307 others(27): Show c.307+171_307+182dupTTTTTTTTTTTT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	2/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38749044	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG03516.hp2 HG03942.hp1 others(1): Show HG02818.hp1 HG03516.hp2 HG03942.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0005 a0001c0001t0007 a0001c0011t0003 a0001c0001t0005 a0001c0001t0007 a0001c0011t0003	a0001c0001t0005g0290 a0001c0001t0005g0295 a0001c0001t0007g0297 others(1): Show a0001c0001t0005g0290 a0001c0001t0005g0295 a0001c0001t0007g0297 a0001c0011t0003g0261	4	342	0.0117	12	c.-48 others(23): Show c.-4880_-4879insTTTTTTTTTTTT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding		4571		chr19	TogoVar
CAPN13_chr2_30717771_30812446	30768678	T T	TTTCCTTC others(5): Show TTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0365 a0001c0001t0001g0365	1	384	0.0026	12	c.524 others(29): Show c.524+1623_524+1634dupGGAAGGAAGGAA	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	5/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30796173	T T	TATATATA others(5): Show TATATATATACAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0227 a0001c0001t0007g0228 a0001c0001t0007g0227 a0001c0001t0007g0228	2	384	0.0052	12	c.-32 others(29): Show c.-32-8817_-32-8816insGTGTATATATAT	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30796175	T T	TATATATA others(5): Show TATATATACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18522.hp1 NA19043.hp2 HG03041.hp2 NA18522.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0235 a0001c0001t0002g0243 a0001c0001t0002g0229 a0001c0001t0002g0235 a0001c0001t0002g0243	3	384	0.0078	12	c.-32 others(29): Show c.-32-8819_-32-8818insGTGTGTATATAT	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30796177	T T	TATATACA others(5): Show TATATACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02818.hp1 HG02818.hp2 others(4): Show HG02257.hp2 HG02818.hp1 HG02818.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0241 others(4): Show a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0002g0233 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0003g0286	7	384	0.0182	12	c.-32 others(29): Show c.-32-8821_-32-8820insGTGTGTGTATAT	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30796186	A A	ACACATAT others(5): Show ACACATATATATG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0239 a0001c0002t0012g0239	1	384	0.0026	12	c.-32 others(29): Show c.-32-8830_-32-8829insCATATATATGTG	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30800116	A A	AAAAGAAA others(5): Show AAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(35): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00597.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01123.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01261.hp2 HG01361.hp1 HG01884.hp1 HG01891.hp1 HG02132.hp2 HG02258.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG03017.hp2 HG03130.hp2 HG03704.hp1 HG03834.hp2 NA18944.hp1 NA18950.hp2 NA18957.hp1 NA18963.hp1 NA18971.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp2 NA18991.hp2 NA18993.hp2 NA19070.hp1 NA19078.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0013 others(3): Show a0001c0001 a0001c0002 a0001c0013 a0002c0003 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0013t0002 a0002c0003t0001 a0003c0004t0002 a0003c0004t0005 a0004c0005t0002	a0001c0001t0001g0070 a0001c0001t0001g0116 a0001c0001t0001g0118 others(35): Show a0001c0001t0001g0070 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0160 a0001c0001t0002g0044 a0001c0001t0002g0071 a0001c0001t0002g0223 a0001c0001t0002g0231 a0001c0001t0003g0074 a0001c0001t0004g0377 a0001c0001t0005g0350 a0001c0002t0001g0017 a0001c0002t0001g0046 a0001c0002t0001g0291 a0001c0002t0001g0297 a0001c0002t0001g0303 a0001c0002t0001g0338 a0001c0002t0001g0349 a0001c0002t0002g0149 a0001c0002t0002g0162 a0001c0002t0002g0211 a0001c0002t0002g0352 a0001c0002t0002g0375 a0001c0002t0003g0161 a0001c0002t0005g0113 a0001c0002t0005g0347 a0001c0002t0006g0163 a0001c0013t0002g0075 a0002c0003t0001g0019 a0002c0003t0001g0073 a0002c0003t0001g0164 a0002c0003t0001g0210 a0002c0003t0001g0348 a0003c0004t0002g0018 a0003c0004t0002g0072 a0003c0004t0005g0117 a0003c0004t0005g0374 a0004c0005t0002g0351	38	384	0.0990	12	c.-33 others(29): Show c.-33+7174_-33+7185dupCTTTCTTTCTTT	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30805747	C C	CTTTATTT others(5): Show CTTTATTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0001 a0016c0019t0001	a0016c0019t0001g0138 a0016c0019t0001g0138	1	384	0.0026	12	c.-33 others(29): Show c.-33+1554_-33+1555insAAAAAAAATAAA	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30805747	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(128): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01258.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG04204.hp1 HG04228.hp1 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp2 NA18961.hp1 NA18966.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA19002.hp1 NA19003.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19070.hp1 NA19081.hp1 NA19082.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0009 a0010 a0012 a0013 a0015	a0001c0001 a0001c0002 a0001c0013 others(9): Show a0001c0001 a0001c0002 a0001c0013 a0002c0003 a0003c0004 a0004c0005 a0005c0006 a0009c0014 a0010c0015 a0012c0011 a0013c0012 a0015c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0013t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0003c0004t0002 a0003c0004t0005 a0004c0005t0001 a0004c0005t0002 a0005c0006t0001 a0005c0006t0004 a0009c0014t0002 a0010c0015t0001 a0012c0011t0002 a0013c0012t0002 a0015c0017t0002	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0038 others(127): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0070 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0148 a0001c0001t0001g0267 a0001c0001t0002g0023 a0001c0001t0002g0044 a0001c0001t0002g0047 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0079 a0001c0001t0002g0093 a0001c0001t0002g0104 a0001c0001t0002g0115 a0001c0001t0002g0121 a0001c0001t0002g0126 a0001c0001t0002g0133 a0001c0001t0003g0009 a0001c0001t0003g0036 a0001c0001t0003g0043 a0001c0001t0003g0074 a0001c0001t0003g0096 a0001c0001t0003g0100 a0001c0001t0003g0103 a0001c0001t0003g0108 a0001c0001t0003g0119 a0001c0001t0003g0122 a0001c0001t0003g0125 a0001c0001t0003g0269 a0001c0001t0004g0024 a0001c0001t0004g0041 a0001c0001t0004g0064 a0001c0001t0004g0095 a0001c0001t0004g0124 a0001c0001t0005g0101 a0001c0001t0006g0042 a0001c0001t0006g0128 a0001c0001t0008g0078 a0001c0002t0001g0002 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0046 a0001c0002t0001g0060 a0001c0002t0001g0089 a0001c0002t0001g0098 a0001c0002t0001g0106 a0001c0002t0002g0021 a0001c0002t0002g0029 a0001c0002t0002g0039 a0001c0002t0002g0045 a0001c0002t0002g0059 a0001c0002t0002g0066 a0001c0002t0002g0069 a0001c0002t0002g0082 a0001c0002t0002g0091 a0001c0002t0002g0099 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0120 a0001c0002t0002g0149 a0001c0002t0002g0152 a0001c0002t0002g0270 a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0004g0037 a0001c0002t0004g0076 a0001c0002t0005g0011 a0001c0002t0005g0022 a0001c0002t0005g0026 a0001c0002t0005g0113 a0001c0013t0002g0075 a0002c0003t0001g0019 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0035 a0002c0003t0001g0048 a0002c0003t0001g0073 a0002c0003t0001g0084 a0002c0003t0001g0102 a0002c0003t0001g0123 a0002c0003t0002g0020 a0002c0003t0002g0030 a0002c0003t0004g0025 a0002c0003t0004g0107 a0002c0003t0004g0150 a0003c0004t0002g0013 a0003c0004t0002g0016 a0003c0004t0002g0018 a0003c0004t0002g0065 a0003c0004t0002g0067 a0003c0004t0002g0072 a0003c0004t0002g0077 a0003c0004t0002g0083 a0003c0004t0002g0097 a0003c0004t0002g0132 a0003c0004t0005g0031 a0003c0004t0005g0117 a0004c0005t0001g0080 a0004c0005t0002g0034 a0004c0005t0002g0040 a0004c0005t0002g0105 a0005c0006t0001g0085 a0005c0006t0001g0092 a0005c0006t0001g0109 a0005c0006t0004g0151 a0009c0014t0002g0055 a0010c0015t0001g0081 a0012c0011t0002g0131 a0013c0012t0002g0268 a0015c0017t0002g0012	131	384	0.3412	12	c.-33 others(29): Show c.-33+1554_-33+1555insAAAAAAAAAAAA	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN14_chr2_31168056_31222515	31179060	C C	CTATATAT others(5): Show CTATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	326	0.0031	12	c.171 others(29): Show c.1711-493_1711-482dupTATATATATATA	CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	17/21			chr2	TogoVar
CAPN14_chr2_31168056_31222515	31181386	T T	TTCTCTTT others(5): Show TTCTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18612.hp2 NA18747.hp1 others(6): Show HG01884.hp2 NA18612.hp2 NA18747.hp1 NA18942.hp2 NA18954.hp2 NA18974.hp1 NA18984.hp1 NA18986.hp1 NA20300.hp1	a0002 a0006 a0007 a0002 a0006 a0007	a0002c0002 a0006c0007 a0007c0009 a0002c0002 a0006c0007 a0007c0009	a0002c0002t0001 a0002c0002t0017 a0006c0007t0008 others(1): Show a0002c0002t0001 a0002c0002t0017 a0006c0007t0008 a0007c0009t0006	a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0211 others(6): Show a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0211 a0002c0002t0001g0228 a0002c0002t0001g0234 a0002c0002t0017g0224 a0002c0002t0017g0251 a0006c0007t0008g0267 a0007c0009t0006g0150	9	326	0.0276	12	c.164 others(29): Show c.1646-387_1646-386insGAAAGAAAGAGA	CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	16/21			chr2	TogoVar
CAPN14_chr2_31168056_31222515	31181398	T T	TTTTCTTT others(5): Show TTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA19060.hp1 NA18980.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0082 a0001c0001t0002g0060 a0001c0001t0002g0082	2	326	0.0061	12	c.164 others(29): Show c.1646-410_1646-399dupGAAAGAAAGAAA	CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	16/21			chr2	TogoVar
CAPN14_chr2_31168056_31222515	31190137	T T	TTCTCTCT others(5): Show TTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01361.hp2 HG02257.hp2 others(9): Show HG00735.hp2 HG01361.hp2 HG02257.hp2 HG02258.hp2 HG02622.hp2 HG02965.hp2 HG02976.hp1 HG03209.hp1 HG03209.hp2 HG03516.hp1 NA18957.hp1 NA20129.hp2	a0002 a0003 a0004 others(5): Show a0002 a0003 a0004 a0013 a0015 a0016 a0021 a0026	a0002c0002 a0002c0012 a0003c0005 others(6): Show a0002c0002 a0002c0012 a0003c0005 a0004c0006 a0013c0022 a0015c0024 a0016c0026 a0021c0030 a0026c0042	a0002c0002t0001 a0002c0002t0012 a0002c0012t0009 others(8): Show a0002c0002t0001 a0002c0002t0012 a0002c0012t0009 a0003c0005t0001 a0004c0006t0005 a0013c0022t0005 a0015c0024t0010 a0016c0026t0020 a0016c0026t0031 a0021c0030t0001 a0026c0042t0027	a0002c0002t0001g0198 a0002c0002t0012g0281 a0002c0002t0012g0283 others(9): Show a0002c0002t0001g0198 a0002c0002t0012g0281 a0002c0002t0012g0283 a0002c0012t0009g0124 a0003c0005t0001g0145 a0004c0006t0005g0085 a0013c0022t0005g0077 a0015c0024t0010g0276 a0016c0026t0020g0298 a0016c0026t0031g0297 a0021c0030t0001g0271 a0026c0042t0027g0243	12	326	0.0368	12	c.128 others(29): Show c.1288-671_1288-660dupGAGAGAGAGAGA	CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	12/21			chr2	TogoVar
CAPN15_chr16_522712_559636	544791	T T	TCGCCTCC others(5): Show TCGCCTCCCCTCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03209.hp2 HG01109.hp1 HG03209.hp2	a0002 a0016 a0002 a0016	a0002c0035 a0016c0034 a0002c0035 a0016c0034	a0002c0035t0004 a0016c0034t0001 a0002c0035t0004 a0016c0034t0001	a0002c0035t0004g0400 a0016c0034t0001g0399 a0002c0035t0004g0400 a0016c0034t0001g0399	2	410	0.0049	12	c.-22 others(29): Show c.-22-2024_-22-2023insCCTCCCCTCACG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544793	G G	GCCTCCCC others(5): Show GCCTCCCCTCACA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0143	1	410	0.0024	12	c.-22 others(29): Show c.-22-2024_-22-2023insCCTCCCCTCACA	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13			chr16	TogoVar
CAPN1_chr11_65176928_65217006	65196123	G G	GGTAAAGA others(5): Show GGTAAAGAATTGT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA19090.hp1 NA18981.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0177 a0001c0001t0001g0165 a0001c0001t0001g0177	2	394	0.0051	12	c.116 others(31): Show c.1165+7377_1165+7378insGTAAAGAATTGT	CAPN1	ENSG00000014216.16	transcript	ENST00000279247.11	protein_coding	10/21			chr11	TogoVar
CAPN2_chr1_223707539_223781018	223709661	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA19081.hp2 NA18954.hp2 NA19081.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0004 a0004c0008t0004	a0004c0008t0004g0112 a0004c0008t0004g0116 a0004c0008t0004g0112 a0004c0008t0004g0116	2	378	0.0053	12	c.-29 others(23): Show c.-2980_-2979insAAAAAAAAAAAA	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding		2877		chr1	TogoVar
CAPN2_chr1_223707539_223781018	223719805	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01255.hp2 HG01361.hp1 others(6): Show HG01081.hp2 HG01255.hp2 HG01361.hp1 HG02738.hp2 HG03490.hp1 NA18940.hp1 NA18943.hp1 NA19079.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0016 a0001c0003 a0002c0016	a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 others(1): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0002c0016t0001	a0001c0003t0001g0361 a0001c0003t0001g0363 a0001c0003t0001g0371 others(6): Show a0001c0003t0001g0361 a0001c0003t0001g0363 a0001c0003t0001g0371 a0001c0003t0001g0372 a0001c0003t0001g0373 a0001c0003t0002g0364 a0001c0003t0002g0370 a0001c0003t0004g0362 a0002c0016t0001g0360	9	378	0.0238	12	c.307 others(29): Show c.307+1990_307+2001dupTGTGTGTGTGTG	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar

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