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
CARMIL1_chr6_25274374_25625530	25459269	T T	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03540.hp1 HG01361.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0013 a0001c0004 a0002c0013	a0001c0004t0004 a0002c0013t0013 a0001c0004t0004 a0002c0013t0013	a0001c0004t0004g0023 a0002c0013t0013g0186 a0001c0004t0004g0023 a0002c0013t0013g0186	2	186	0.0108	17	c.615 others(34): Show c.615-6604_615-6603insCTTTCTTTCTTTCTTTC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36			chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25529755	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0040 a0001c0004t0004g0040	1	186	0.0054	17	c.206 others(34): Show c.2067+876_2067+892dupAAAAAAAAAAAAAAAAA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARNS1_chr11_67410678_67430604	67425542	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0039 a0001c0003t0039	a0001c0003t0039g0003 a0001c0003t0039g0003	1	346	0.0029	17	c.94 others(26): Show c.942_*943insAAAAAAAAAAAAAAAAA	CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding	10/10	943	INFO_REALIGN_3_PRIME	chr11	TogoVar
CARS2_chr13_110636417_110711116	110646490	C C	CCCACCAC others(10): Show CCCACCACCCGCTGCCCA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0001 a0015c0022t0001	a0015c0022t0001g0112 a0015c0022t0001g0112	1	372	0.0027	17	c.119 others(34): Show c.1194-401_1194-400insTGGGCAGCGGGTGGTGG	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	11/14			chr13	TogoVar
CARS2_chr13_110636417_110711116	110649931	C C	CTGTTTTT others(10): Show CTGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03486.hp1 NA19030.hp2 HG02970.hp2 HG03486.hp1 NA19030.hp2	a0002 a0006 a0002 a0006	a0002c0004 a0006c0015 a0002c0004 a0006c0015	a0002c0004t0002 a0006c0015t0002 a0002c0004t0002 a0006c0015t0002	a0002c0004t0002g0241 a0006c0015t0002g0064 a0006c0015t0002g0065 a0002c0004t0002g0241 a0006c0015t0002g0064 a0006c0015t0002g0065	3	372	0.0081	17	c.105 others(36): Show c.1054+1102_1054+1103insAAAAAAAAAAAAAAACA	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	10/14			chr13	TogoVar
CARS2_chr13_110636417_110711116	110706782	T T	TCCCAATA others(10): Show TCCCAATACAGTGTGCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00140.hp1 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0132 a0001c0005t0001g0141 a0001c0001t0001g0132 a0001c0005t0001g0141	2	372	0.0054	17	c.-70 others(26): Show c.-706_-690dupGTGCACACTGTATTGGG	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding		667		chr13	TogoVar
CARS2_chr13_110636417_110711116	110709863	C C	CGAGGAAG others(10): Show CGAGGAAGTGTGAAGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	372	0.0027	17	c.-37 others(28): Show c.-3771_-3770insACACTTCACACTTCCTC	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding		3748		chr13	TogoVar
CASK_chrX_41509934_41928554	41754325	T T	TGGAAGGT others(10): Show TGGAAGGTCAAGGCTGCA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	164	0.0061	17	c.279 others(34): Show c.279-8741_279-8725dupTGCAGCCTTGACCTTCC	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	3/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41869812	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18522.hp1 NA19058.hp1 others(1): Show HG01433.hp1 NA18522.hp1 NA19058.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0001c0001t0001 a0001c0001t0004 a0001c0001t0018	a0001c0001t0001g0135 a0001c0001t0001g0156 a0001c0001t0004g0133 others(1): Show a0001c0001t0001g0135 a0001c0001t0001g0156 a0001c0001t0004g0133 a0001c0001t0018g0132	4	164	0.0244	17	c.60- others(34): Show c.60-16602_60-16586dupTTTTTTTTTTTTTTTTT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26			chrX	TogoVar
CASP2_chr7_143283351_143312696	143291780	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG02976.hp2 others(3): Show HG02109.hp1 HG02486.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0035 a0001c0001t0001 a0001c0001t0014 a0001c0001t0035	a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0048 others(2): Show a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0014g0052 a0001c0001t0035g0073	6	246	0.0244	17	c.225 others(31): Show c.225+94_225+110dupTTTTTTTTTTTTTTTTT	CASP2	ENSG00000106144.20	transcript	ENST00000310447.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASP3_chr4_184622696_184654447	184631542	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03239.hp2 HG00642.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	2	366	0.0055	17	c.483 others(32): Show c.483+206_483+222dupTTTTTTTTTTTTTTTTT	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding	6/7			chr4	TogoVar
CASP6_chr4_109683628_109708445	109706129	T T	TATATATA others(10): Show TATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0059 a0002c0003t0010g0059	1	416	0.0024	17	c.-27 others(28): Show c.-2735_-2734insTATATATATATATATAT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2685		chr4	TogoVar
CASQ1_chr1_160185575_160206886	160186086	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG04204.hp1 others(4): Show HG00642.hp2 HG00735.hp1 HG04204.hp1 NA18956.hp1 NA18956.hp2 NA18984.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010	7	440	0.0159	17	c.-46 others(28): Show c.-4666_-4665insAAAAAAAAAAAAAAAAA	CASQ1	ENSG00000143318.13	transcript	ENST00000368078.8	protein_coding		4488		chr1	TogoVar
CASQ1_chr1_160185575_160206886	160191838	T T	TGGCCTGG others(10): Show TGGCCTGGCATTCAGATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(136): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00642.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01192.hp2 HG01243.hp2 HG01261.hp2 HG01358.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01981.hp1 HG02055.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18951.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18967.hp2 NA18970.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp2 NA19005.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp2 NA19058.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0008 a0009	a0001c0001 a0002c0004 a0002c0005 others(4): Show a0001c0001 a0002c0004 a0002c0005 a0003c0003 a0005c0011 a0008c0008 a0009c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0002c0004t0002 a0002c0005t0002 a0003c0003t0003 a0005c0011t0001 a0008c0008t0001 a0009c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(55): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0002g0027 a0001c0001t0002g0099 a0001c0001t0003g0098 a0001c0001t0004g0050 a0001c0001t0004g0127 a0001c0001t0005g0048 a0001c0001t0006g0122 a0001c0001t0008g0050 a0002c0004t0002g0116 a0002c0004t0002g0117 a0002c0004t0002g0119 a0002c0005t0002g0049 a0003c0003t0003g0030 a0003c0003t0003g0129 a0005c0011t0001g0003 a0008c0008t0001g0112 a0009c0007t0001g0126	139	440	0.3159	17	c.279 others(32): Show c.279+813_279+814insGGCATTCAGATAGGCCT	CASQ1	ENSG00000143318.13	transcript	ENST00000368078.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CASS4_chr20_56407260_56465382	56443469	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00558.hp2 others(93): Show HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01074.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02523.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02976.hp2 HG03041.hp1 HG03239.hp1 HG03453.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18962.hp2 NA18973.hp2 NA18978.hp2 NA18981.hp1 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19002.hp2 NA19007.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19068.hp1 NA19068.hp2 NA19078.hp1 NA19081.hp2 NA19084.hp1 NA19240.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0009 a0011	a0001c0001 a0001c0002 a0001c0005 others(8): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0001c0020 a0002c0003 a0002c0004 a0002c0013 a0005c0007 a0009c0023 a0011c0018	a0001c0001t0001 a0001c0002t0002 a0001c0005t0002 others(9): Show a0001c0001t0001 a0001c0002t0002 a0001c0005t0002 a0001c0009t0001 a0001c0020t0003 a0002c0003t0001 a0002c0004t0001 a0002c0004t0006 a0002c0013t0001 a0005c0007t0002 a0009c0023t0008 a0011c0018t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0025 others(89): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0144 a0001c0001t0001g0153 a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0001g0241 a0001c0002t0002g0069 a0001c0002t0002g0071 a0001c0002t0002g0084 a0001c0002t0002g0099 a0001c0002t0002g0185 a0001c0002t0002g0188 a0001c0002t0002g0339 a0001c0002t0002g0341 a0001c0005t0002g0146 a0001c0005t0002g0151 a0001c0005t0002g0152 a0001c0005t0002g0157 a0001c0005t0002g0159 a0001c0005t0002g0166 a0001c0005t0002g0167 a0001c0005t0002g0169 a0001c0005t0002g0170 a0001c0005t0002g0171 a0001c0005t0002g0204 a0001c0005t0002g0247 a0001c0005t0002g0252 a0001c0005t0002g0264 a0001c0005t0002g0270 a0001c0005t0002g0292 a0001c0005t0002g0293 a0001c0005t0002g0294 a0001c0009t0001g0055 a0001c0020t0003g0184 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0044 a0002c0003t0001g0149 a0002c0003t0001g0165 a0002c0003t0001g0174 a0002c0003t0001g0215 a0002c0003t0001g0222 a0002c0003t0001g0233 a0002c0003t0001g0276 a0002c0003t0001g0290 a0002c0003t0001g0301 a0002c0004t0001g0029 a0002c0004t0001g0053 a0002c0004t0001g0077 a0002c0004t0001g0134 a0002c0004t0001g0138 a0002c0004t0001g0205 a0002c0004t0001g0260 a0002c0004t0006g0052 a0002c0004t0006g0059 a0002c0013t0001g0130 a0002c0013t0001g0135 a0005c0007t0002g0313 a0009c0023t0008g0342 a0011c0018t0001g0036	96	376	0.2553	17	c.460 others(34): Show c.460-2420_460-2419insAAAAAAAAAAAAAAAAA	CASS4	ENSG00000087589.17	transcript	ENST00000679887.1	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
CASTOR2_chr7_74959705_75036528	74960681	A A	AAATATAT others(10): Show AAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0027 a0001c0001t0087g0027	1	228	0.0044	17	c.-43 others(28): Show c.-4305_-4304insAATATATATATATATAT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		4023		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74963074	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	228	0.0044	17	c.-19 others(28): Show c.-1912_-1911insAAAAAAAAAAAAAAAAA	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		1630		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	75026189	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp1 HG01074.hp1 HG01109.hp1 others(6): Show HG00741.hp1 HG01074.hp1 HG01109.hp1 HG01168.hp1 HG01515.hp2 HG01517.hp2 HG02683.hp2 HG03492.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0022 a0001c0001t0034 others(1): Show a0001c0001t0011 a0001c0001t0022 a0001c0001t0034 a0001c0001t0050	a0001c0001t0011g0001 a0001c0001t0011g0078 a0001c0001t0011g0120 others(6): Show a0001c0001t0011g0001 a0001c0001t0011g0078 a0001c0001t0011g0120 a0001c0001t0011g0125 a0001c0001t0022g0207 a0001c0001t0022g0216 a0001c0001t0034g0151 a0001c0001t0034g0157 a0001c0001t0050g0187	9	228	0.0395	17	c.14 others(28): Show c.1491_*1507dupTTTTTTTTTTTTTTTTT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	9/9	1508	INFO_REALIGN_3_PRIME	chr7	TogoVar
CAST_chr5_96657376_96779683	96680354	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18965.hp1 HG02717.hp2 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0058 a0001c0001t0002g0062	2	358	0.0056	17	c.138 others(34): Show c.138+4762_138+4778dupAAAAAAAAAAAAAAAAA	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	2/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAST_chr5_96657376_96779683	96696686	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG01070.hp1 others(12): Show HG00280.hp1 HG00642.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01516.hp1 HG01517.hp2 HG02109.hp1 HG02257.hp1 HG03492.hp2 HG03669.hp2 HG04199.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0020 a0002c0003 a0001c0001 a0001c0020 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0018 a0001c0001t0019 a0001c0020t0004 a0002c0003t0002 a0002c0003t0003	a0001c0001t0001g0261 a0001c0001t0004g0014 a0001c0001t0004g0266 others(11): Show a0001c0001t0001g0261 a0001c0001t0004g0014 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0269 a0001c0001t0004g0272 a0001c0001t0004g0277 a0001c0001t0004g0285 a0001c0001t0006g0273 a0001c0001t0018g0274 a0001c0001t0019g0332 a0001c0020t0004g0022 a0002c0003t0002g0276 a0002c0003t0003g0275	15	358	0.0419	17	c.210 others(32): Show c.210+792_210+793insAAAAAAAAAAAAAAAAA	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CATSPER2_chr15_43623503_43653844	43638286	C C	CTTTCTTT others(10): Show CTTTCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02723.hp2 HG02738.hp2 others(10): Show HG01981.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02970.hp1 HG03130.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03688.hp2 HG04115.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0042 a0001c0001t0002g0184 a0001c0001t0002g0185 others(7): Show a0001c0001t0002g0042 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0010g0026	13	392	0.0332	17	c.842 others(32): Show c.842+617_842+618insAAAAAAAAAAAAAGAAA	CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding	7/12			chr15	TogoVar
CATSPER2_chr15_43623503_43653844	43645962	A A	ATTTCCTT others(10): Show ATTTCCTTTTTAAGTAAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	392	0.0026	17	c.388 others(34): Show c.388+1071_388+1087dupATTACTTAAAAAGGAAA	CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding	4/12			chr15	TogoVar
CATSPER4_chr1_26185602_26207964	26199598	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02630.hp1 HG03098.hp2 others(2): Show HG00738.hp1 HG02630.hp1 HG03098.hp2 HG03516.hp1 HG04199.hp2	a0003 a0003	a0003c0004 a0003c0006 a0003c0004 a0003c0006	a0003c0004t0001 a0003c0006t0001 a0003c0004t0001 a0003c0006t0001	a0003c0004t0001g0048 a0003c0004t0001g0050 a0003c0004t0001g0054 others(2): Show a0003c0004t0001g0048 a0003c0004t0001g0050 a0003c0004t0001g0054 a0003c0006t0001g0059 a0003c0006t0001g0060	5	398	0.0126	17	c.813 others(32): Show c.813-273_813-272insAAAAAAAAAAAAAAAAA	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPER4_chr1_26185602_26207964	26207777	A A	AAAAAGAA others(10): Show AAAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01099.hp1 others(22): Show HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01168.hp2 HG01169.hp2 HG01515.hp1 HG02258.hp1 HG02602.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG03098.hp1 HG03139.hp1 HG03579.hp2 HG03710.hp1 HG04199.hp1 HG06807.hp2 NA18522.hp2 NA18946.hp1 NA18957.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0004c0005 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002 a0003c0004t0001 a0004c0005t0002 a0006c0008t0001	a0001c0001t0001g0013 a0001c0001t0001g0046 a0001c0001t0001g0183 others(15): Show a0001c0001t0001g0013 a0001c0001t0001g0046 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0002g0118 a0001c0003t0002g0015 a0001c0003t0002g0069 a0001c0003t0002g0070 a0001c0003t0002g0071 a0002c0002t0001g0003 a0002c0002t0001g0021 a0002c0002t0002g0003 a0003c0004t0001g0028 a0003c0004t0001g0049 a0003c0004t0001g0053 a0003c0004t0001g0056 a0004c0005t0002g0174 a0006c0008t0001g0027	25	398	0.0628	17	c.52 others(28): Show c.5235_*5236insAAAAGAAAGAAAGAAAG	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding		4814		chr1	TogoVar
CATSPERB_chr14_91575698_91737086	91577961	C C	CGGGTGGG others(10): Show CGGGTGGGAACCAGGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	271	0.0037	17	c.29 others(28): Show c.2927_*2928insAACCCTGGTTCCCACCC	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding		2736		chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91577965	T T	TGGGAACC others(10): Show TGGGAACCAGGGTTGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp1 others(213): Show HG00140.hp1 HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0004c0010 a0006c0008 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0002c0003t0001 a0002c0003t0003 a0003c0004t0001 a0003c0004t0004 a0004c0010t0001 a0006c0008t0001 a0007c0007t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(213): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0264 a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0040 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0108 a0001c0001t0002g0168 a0001c0001t0002g0175 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0185 a0001c0001t0002g0208 a0001c0001t0002g0233 a0001c0001t0002g0247 a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0002t0001g0014 a0001c0002t0001g0024 a0001c0002t0001g0140 a0001c0002t0001g0142 a0001c0002t0001g0154 a0001c0002t0001g0161 a0001c0002t0001g0178 a0001c0002t0001g0255 a0002c0003t0001g0037 a0002c0003t0001g0039 a0002c0003t0001g0050 a0002c0003t0001g0061 a0002c0003t0001g0138 a0002c0003t0001g0141 a0002c0003t0001g0143 a0002c0003t0001g0144 a0002c0003t0001g0145 a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0001g0148 a0002c0003t0001g0149 a0002c0003t0001g0150 a0002c0003t0003g0267 a0002c0003t0003g0268 a0002c0003t0003g0269 a0002c0003t0003g0270 a0002c0003t0003g0271 a0003c0004t0001g0025 a0003c0004t0001g0113 a0003c0004t0001g0114 a0003c0004t0001g0194 a0003c0004t0001g0196 a0003c0004t0001g0256 a0003c0004t0004g0001 a0003c0004t0004g0002 a0004c0010t0001g0125 a0006c0008t0001g0047 a0007c0007t0001g0093	216	271	0.7971	17	c.29 others(28): Show c.2923_*2924insGCCCAACCCTGGTTCCC	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding		2732		chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91587477	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	271	0.0037	17	c.305 others(34): Show c.3058-218_3058-202dupAAAAAAAAAAAAAAAAA	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	25/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91667552	A A	AACCTATA others(10): Show AACCTATATCTGCCTCTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0003 a0001c0001t0004g0004	2	271	0.0074	17	c.128 others(36): Show c.1287+2245_1287+2261dupGAGAGGCAGATATAGGT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	14/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91736635	T T	TAAATAAC others(10): Show TAAATAACAAAACAACTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0114 a0003c0004t0001g0114	1	271	0.0037	17	c.-47 others(28): Show c.-4707_-4706insTAGTTGTTTTGTTATTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding		4550		chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5715643	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0267 a0004c0003t0001g0267	1	336	0.0030	17	c.-50 others(28): Show c.-5095_-5094insAAAAAAAAAAAAAAAAA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4993		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5741785	C C	CGGGGGGG others(10): Show CGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp2 HG02735.hp2 others(3): Show HG02055.hp2 HG02486.hp2 HG02735.hp2 HG03688.hp2 NA18968.hp2 NA19065.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0026	a0001c0001 a0002c0002 a0004c0003 others(2): Show a0001c0001 a0002c0002 a0004c0003 a0006c0007 a0026c0033	a0001c0001t0002 a0002c0002t0001 a0004c0003t0003 others(2): Show a0001c0001t0002 a0002c0002t0001 a0004c0003t0003 a0006c0007t0001 a0026c0033t0001	a0001c0001t0002g0059 a0002c0002t0001g0085 a0002c0002t0001g0097 others(3): Show a0001c0001t0002g0059 a0002c0002t0001g0085 a0002c0002t0001g0097 a0004c0003t0003g0071 a0006c0007t0001g0017 a0026c0033t0001g0301	6	336	0.0179	17	c.573 others(34): Show c.573+2359_573+2360insGGGGGGGGGGGGGGGGG	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA21309.hp2 HG01928.hp1 NA21309.hp2	a0004 a0031 a0004 a0031	a0004c0003 a0031c0028 a0004c0003 a0031c0028	a0004c0003t0001 a0031c0028t0001 a0004c0003t0001 a0031c0028t0001	a0004c0003t0001g0274 a0031c0028t0001g0130 a0004c0003t0001g0274 a0031c0028t0001g0130	2	336	0.0060	17	c.142 others(36): Show c.1428-1156_1428-1155insATATATATATATATATT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA19078.hp2 HG00609.hp2 NA19078.hp2	a0003 a0004 a0003 a0004	a0003c0005 a0004c0003 a0003c0005 a0004c0003	a0003c0005t0001 a0004c0003t0001 a0003c0005t0001 a0004c0003t0001	a0003c0005t0001g0269 a0004c0003t0001g0320 a0003c0005t0001g0269 a0004c0003t0001g0320	2	336	0.0060	17	c.142 others(36): Show c.1428-1156_1428-1155insATATATATATATATTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0159 a0009c0012t0001g0159	1	336	0.0030	17	c.142 others(36): Show c.1428-1156_1428-1155insATATATATATATTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0153 a0009c0012t0001g0156 a0009c0012t0001g0153 a0009c0012t0001g0156	2	336	0.0060	17	c.142 others(36): Show c.1428-1156_1428-1155insATATATATATTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762059	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0125 a0012c0015t0001g0125	1	336	0.0030	17	c.142 others(36): Show c.1428-1156_1428-1155insATATATATATATATATA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21			chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244625430	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19065.hp1 NA18612.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0117 a0001c0001t0001g0090 a0001c0001t0001g0117	2	206	0.0097	17	c.264 others(36): Show c.2648+7745_2648+7746insTTTTTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01496.hp2 HG03041.hp2 others(1): Show HG01109.hp2 HG01496.hp2 HG03041.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0067 a0001c0001t0001g0093 a0001c0001t0002g0025 others(1): Show a0001c0001t0001g0067 a0001c0001t0001g0093 a0001c0001t0002g0025 a0001c0001t0003g0165	4	206	0.0194	17	c.264 others(36): Show c.2648+7747_2648+7748insATATTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATTTTT others(10): Show ATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG01928.hp2 others(7): Show HG00280.hp2 HG00438.hp2 HG01928.hp2 HG02055.hp2 HG02451.hp1 HG02965.hp2 HG03831.hp2 NA18989.hp1 NA18989.hp2 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0007t0001 a0002c0004t0001	a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0055 others(7): Show a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0055 a0001c0001t0001g0094 a0001c0001t0003g0183 a0001c0002t0002g0062 a0001c0002t0003g0204 a0001c0002t0004g0184 a0001c0007t0001g0133 a0002c0004t0001g0068	10	206	0.0485	17	c.264 others(36): Show c.2648+7747_2648+7748insATTTTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01891.hp1 HG02148.hp1 others(4): Show HG01516.hp1 HG01891.hp1 HG02148.hp1 HG03491.hp2 NA19054.hp1 NA19086.hp1 NA19240.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0009c0022	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0009c0022t0001	a0001c0001t0001g0020 a0001c0001t0001g0070 a0001c0001t0001g0097 others(4): Show a0001c0001t0001g0020 a0001c0001t0001g0070 a0001c0001t0001g0097 a0001c0002t0002g0111 a0001c0002t0004g0191 a0001c0003t0001g0198 a0009c0022t0001g0080	7	206	0.0340	17	c.264 others(36): Show c.2648+7761_2648+7762insTTTTTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAT_chr11_34433934_34477060	34442393	G G	GGAGTTCA others(10): Show GGAGTTCAAAACTAGCCT	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0187 a0001c0002t0001g0187	1	424	0.0024	17	c.66+ others(32): Show c.66+3317_66+3333dupGTTCAAAACTAGCCTGA	CAT	ENSG00000121691.7	transcript	ENST00000241052.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAV1_chr7_116520036_116566179	116530208	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01433.hp2 HG02257.hp2 others(7): Show HG01106.hp1 HG01433.hp2 HG02257.hp2 HG02630.hp2 HG02683.hp2 HG02738.hp1 HG02970.hp2 HG03834.hp1 HG06807.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0100 a0001c0001t0004g0064 a0001c0001t0004g0101 others(7): Show a0001c0001t0001g0100 a0001c0001t0004g0064 a0001c0001t0004g0101 a0001c0001t0004g0319 a0001c0001t0004g0320 a0001c0001t0005g0099 a0001c0001t0005g0106 a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0321	10	342	0.0292	17	c.195 others(34): Show c.195+3532_195+3533insTTTTTTTTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	342	0.0029	17	c.195 others(34): Show c.195+7707_195+7708insATATATATATTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA18939.hp2 HG01978.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0147 a0001c0001t0002g0228 a0001c0001t0001g0147 a0001c0001t0002g0228	2	342	0.0059	17	c.195 others(34): Show c.195+7707_195+7708insATATATATTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(10): Show ATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18985.hp1 NA18975.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0148 a0001c0001t0002g0232 a0001c0001t0001g0148 a0001c0001t0002g0232	2	342	0.0059	17	c.195 others(34): Show c.195+7707_195+7708insATATATTTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18977.hp1 HG00621.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0263 a0001c0001t0002g0240 a0001c0001t0002g0263	2	342	0.0059	17	c.195 others(34): Show c.195+7707_195+7708insATATTTTTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATTTTT others(10): Show ATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	342	0.0029	17	c.195 others(34): Show c.195+7707_195+7708insATTTTTTTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116546697	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0278 a0001c0001t0003g0278	1	342	0.0029	17	c.196 others(36): Show c.196-12248_196-12232dupAAAAAAAAAAAAAAAAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV2_chr7_116494738_116513541	116498910	C C	CCACACAC others(10): Show CCACACACACACACAACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	374	0.0027	17	c.-87 others(26): Show c.-872_-871insCACACACACACACAACA	CAV2	ENSG00000105971.15	transcript	ENST00000222693.5	protein_coding		827		chr7	TogoVar
CAVIN1_chr17_42397449_42428256	42411207	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02015.hp1 HG02040.hp2 others(36): Show HG00558.hp2 HG02015.hp1 HG02040.hp2 HG02083.hp2 HG02145.hp2 HG02280.hp2 HG02523.hp2 HG02717.hp1 HG02735.hp1 HG03195.hp1 HG03669.hp1 HG04184.hp1 NA18952.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp2 NA18974.hp2 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18988.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA19003.hp1 NA19004.hp2 NA19055.hp1 NA19062.hp2 NA19064.hp1 NA19070.hp1 NA19081.hp2 NA19083.hp1 NA19085.hp2 NA19087.hp2 NA19091.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0010 a0001c0001 a0001c0004 a0004c0010	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0004t0004 a0004c0010t0004	a0001c0001t0002g0025 a0001c0001t0002g0240 a0001c0001t0002g0245 others(32): Show a0001c0001t0002g0025 a0001c0001t0002g0240 a0001c0001t0002g0245 a0001c0001t0002g0249 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0279 a0001c0001t0002g0282 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0004g0114 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0120 a0001c0001t0004g0121 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0150 a0001c0001t0009g0026 a0001c0001t0009g0251 a0001c0001t0009g0260 a0001c0001t0009g0273 a0001c0001t0012g0008 a0001c0001t0018g0250 a0001c0001t0020g0210 a0001c0004t0004g0294 a0001c0004t0004g0295 a0004c0010t0004g0079	39	338	0.1154	17	c.472 others(34): Show c.472-5820_472-5819insGTTTTTTTTTTTTTTTT	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1			chr17	TogoVar

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