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
CASP6_chr4_109683628_109708445	109706129	T T	TTATATAT others(9): Show TTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG02818.hp2 HG02897.hp1 others(5): Show HG01081.hp1 HG02818.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03492.hp2 NA18906.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0002t0006 a0002c0003t0003	a0001c0001t0001g0108 a0001c0001t0001g0124 a0001c0001t0003g0022 others(4): Show a0001c0001t0001g0108 a0001c0001t0001g0124 a0001c0001t0003g0022 a0001c0001t0007g0196 a0001c0002t0006g0011 a0001c0002t0006g0071 a0002c0003t0003g0010	8	416	0.0192	16	c.-27 others(27): Show c.-2735_-2734insTATATATATATATATA	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2685		chr4	TogoVar
CASP6_chr4_109683628_109708445	109706131	T T	TTATATAT others(9): Show TTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	416	0.0024	16	c.-27 others(27): Show c.-2737_-2736insTATATATATATATATA	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2687		chr4	TogoVar
CASP6_chr4_109683628_109708445	109706168	T T	TATATATA others(9): Show TATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	416	0.0024	16	c.-27 others(27): Show c.-2774_-2773insGTATATATATATATAT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2724		chr4	TogoVar
CASP7_chr10_113674912_113735905	113687794	C C	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00733.hp1 others(23): Show HG00140.hp2 HG00597.hp1 HG00733.hp1 HG00738.hp2 HG01169.hp2 HG02080.hp2 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02818.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03654.hp2 HG03831.hp2 HG03834.hp2 NA18747.hp1 NA18962.hp1 NA18965.hp1 NA18981.hp1 NA18981.hp2 NA18986.hp2 NA18990.hp1 NA18992.hp2 NA19077.hp1 NA19080.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0002c0002t0001 a0003c0003t0002 a0004c0004t0001 a0005c0009t0003	a0001c0001t0002g0010 a0001c0001t0002g0326 a0001c0001t0003g0183 others(23): Show a0001c0001t0002g0010 a0001c0001t0002g0326 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0217 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0005g0180 a0001c0001t0015g0010 a0002c0002t0001g0325 a0002c0002t0001g0327 a0002c0002t0001g0349 a0002c0002t0001g0366 a0003c0003t0002g0111 a0003c0003t0002g0127 a0003c0003t0002g0128 a0003c0003t0002g0145 a0003c0003t0002g0148 a0004c0004t0001g0129 a0004c0004t0001g0130 a0005c0009t0003g0204	26	406	0.0640	16	c.-1+ others(31): Show c.-1+7843_-1+7858dupTTTCTTTCTTTCTTTC	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
CASP7_chr10_113674912_113735905	113687916	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0382 a0001c0001t0005g0382	1	406	0.0025	16	c.-1+ others(31): Show c.-1+7973_-1+7988dupCCTTCCTTCCTTCCTT	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
CASP9_chr1_15486401_15529215	15489225	G G	GTCCCAGC others(9): Show GTCCCAGCATCAGCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01952.hp2 HG01978.hp2 others(2): Show HG01496.hp1 HG01952.hp2 HG01978.hp2 HG02071.hp1 NA18968.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0003 a0002c0001t0001g0058 a0002c0001t0001g0098 a0002c0001t0001g0003 a0002c0001t0001g0058 a0002c0001t0001g0098	5	350	0.0143	16	c.37 others(27): Show c.3702_*3717dupACAGCTGATGCTGGGA	CASP9	ENSG00000132906.18	transcript	ENST00000333868.10	protein_coding		2175		chr1	TogoVar
CASQ1_chr1_160185575_160206886	160186086	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01074.hp1 HG01081.hp1 others(25): Show HG00741.hp1 HG01074.hp1 HG01081.hp1 HG01123.hp2 HG01255.hp1 HG01361.hp1 HG01928.hp2 HG01952.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02148.hp1 HG02148.hp2 HG02717.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp2 NA18957.hp1 NA18972.hp1 NA18982.hp1 NA18984.hp1 NA18991.hp1 NA19003.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19074.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0065 a0001c0001t0001g0074 a0001c0001t0001g0077	28	440	0.0636	16	c.-46 others(27): Show c.-4666_-4665insAAAAAAAAAAAAAAAA	CASQ1	ENSG00000143318.13	transcript	ENST00000368078.8	protein_coding		4488		chr1	TogoVar
CASQ2_chr1_115695021_115773714	115723293	A A	ATATCTAT others(9): Show ATATCTATCTATTTATC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0317 a0002c0003t0001g0317	1	364	0.0028	16	c.783 others(33): Show c.783+2199_783+2214dupGATAAATAGATAGATA	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	7/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115723305	T T	TTATCTAT others(9): Show TTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG00639.hp2 others(45): Show HG00558.hp1 HG00609.hp1 HG00639.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01884.hp1 HG01952.hp2 HG02148.hp1 HG02280.hp2 HG02293.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02698.hp1 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG03486.hp1 HG03486.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 NA18747.hp1 NA18943.hp1 NA18948.hp2 NA18949.hp1 NA18952.hp1 NA18965.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp2 NA19006.hp2 NA19012.hp2 NA19091.hp1 NA20129.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0003c0005 a0004c0008	a0001c0001t0002 a0001c0002t0001 a0001c0002t0006 others(9): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0006 a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 a0002c0003t0007 a0002c0003t0010 a0002c0004t0002 a0002c0004t0005 a0003c0005t0001 a0004c0008t0001	a0001c0001t0002g0001 a0001c0001t0002g0081 a0001c0001t0002g0082 others(44): Show a0001c0001t0002g0001 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0130 a0001c0001t0002g0233 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0057 a0001c0002t0001g0077 a0001c0002t0001g0131 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0006g0229 a0002c0003t0001g0284 a0002c0003t0001g0286 a0002c0003t0001g0318 a0002c0003t0001g0329 a0002c0003t0001g0340 a0002c0003t0001g0344 a0002c0003t0001g0345 a0002c0003t0003g0277 a0002c0003t0006g0320 a0002c0003t0006g0321 a0002c0003t0006g0351 a0002c0003t0007g0018 a0002c0003t0007g0019 a0002c0003t0010g0004 a0002c0004t0002g0272 a0002c0004t0002g0274 a0002c0004t0002g0275 a0002c0004t0002g0278 a0002c0004t0002g0312 a0002c0004t0002g0343 a0002c0004t0005g0324 a0003c0005t0001g0237 a0003c0005t0001g0241 a0003c0005t0001g0242 a0003c0005t0001g0246 a0003c0005t0001g0247 a0003c0005t0001g0251 a0004c0008t0001g0273	48	364	0.1319	16	c.783 others(33): Show c.783+2187_783+2202dupGATAGATAGATAGATA	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	7/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761528	A A	AGAAGAAG others(9): Show AGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0277 a0002c0003t0003g0277	1	364	0.0028	16	c.234 others(33): Show c.234+6779_234+6780insCTTCTTCTTCTTCTTC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115773576	G G	GTTTTAAC others(9): Show GTTTTAACCGCTAAGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0006 a0002c0003t0010g0006	1	364	0.0028	16	c.-50 others(27): Show c.-5036_-5035insGACTTAGCGGTTAAAA	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding		4863		chr1	TogoVar
CASR_chr3_122178668_122296629	122252362	A A	AGAAGGAA others(9): Show AGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	314	0.0032	16	c.-24 others(35): Show c.-242-1554_-242-1539dupGGAAGGAAGGAAGGAA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02074.hp1 HG02723.hp2 others(4): Show HG00733.hp2 HG02074.hp1 HG02723.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp2 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0003 a0001c0001 a0002c0002 a0004c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0002c0002t0002 a0004c0003t0004	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0003g0089 others(3): Show a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0003g0089 a0001c0001t0006g0072 a0002c0002t0002g0058 a0004c0003t0004g0007	7	314	0.0223	16	c.-24 others(35): Show c.-242-1515_-242-1500dupGAAAGAAAGAAAGAAA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAAAA others(9): Show AGGAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01358.hp1 HG02040.hp1 others(7): Show HG01123.hp1 HG01358.hp1 HG02040.hp1 HG02109.hp2 HG02523.hp1 HG02818.hp2 NA18522.hp1 NA18954.hp1 NA18983.hp2 NA19062.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0002c0008 others(3): Show a0001c0001 a0002c0002 a0002c0008 a0003c0004 a0004c0003 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0002c0002t0002 a0002c0008t0012 a0003c0004t0008 a0004c0003t0004 a0005c0006t0006	a0001c0001t0001g0051 a0001c0001t0001g0080 a0001c0001t0001g0237 others(7): Show a0001c0001t0001g0051 a0001c0001t0001g0080 a0001c0001t0001g0237 a0001c0001t0003g0199 a0001c0001t0005g0142 a0002c0002t0002g0054 a0002c0008t0012g0050 a0003c0004t0008g0192 a0004c0003t0004g0277 a0005c0006t0006g0039	10	314	0.0319	16	c.-24 others(35): Show c.-242-1539_-242-1538insGGAAAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(9): Show AGGAAGGAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02109.hp1 HG03704.hp2 others(7): Show HG00621.hp2 HG02109.hp1 HG03704.hp2 HG03834.hp2 NA18986.hp1 NA18994.hp1 NA19005.hp1 NA19007.hp2 NA19084.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0002c0002 others(2): Show a0001c0001 a0001c0007 a0002c0002 a0002c0008 a0003c0015	a0001c0001t0001 a0001c0001t0006 a0001c0007t0001 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0007t0001 a0002c0002t0002 a0002c0002t0012 a0002c0002t0016 a0002c0008t0002 a0003c0015t0011	a0001c0001t0001g0041 a0001c0001t0006g0252 a0001c0007t0001g0270 others(7): Show a0001c0001t0001g0041 a0001c0001t0006g0252 a0001c0007t0001g0270 a0002c0002t0002g0141 a0002c0002t0002g0207 a0002c0002t0002g0214 a0002c0002t0012g0208 a0002c0002t0016g0213 a0002c0008t0002g0267 a0003c0015t0011g0241	10	314	0.0319	16	c.-24 others(35): Show c.-242-1539_-242-1538insGGAAGGAAAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(9): Show AGGAAGGAAGGAAAAAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA19009.hp1 HG02040.hp2 NA19009.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0014 a0002c0002 a0008c0014	a0002c0002t0002 a0008c0014t0002 a0002c0002t0002 a0008c0014t0002	a0002c0002t0002g0222 a0008c0014t0002g0217 a0002c0002t0002g0222 a0008c0014t0002g0217	2	314	0.0064	16	c.-24 others(35): Show c.-242-1539_-242-1538insGGAAGGAAGGAAAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGTAGGA others(9): Show AGGTAGGAAGGAAAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02886.hp2 HG01884.hp1 HG02886.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0007 a0003c0005t0011 a0001c0001t0007 a0003c0005t0011	a0001c0001t0007g0114 a0003c0005t0011g0228 a0001c0001t0007g0114 a0003c0005t0011g0228	2	314	0.0064	16	c.-24 others(35): Show c.-242-1539_-242-1538insGGTAGGAAGGAAAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASS4_chr20_56407260_56465382	56443469	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01169.hp2 HG02300.hp2 others(24): Show HG00280.hp2 HG01169.hp2 HG02300.hp2 HG02622.hp2 NA18950.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18963.hp1 NA18970.hp2 NA18975.hp1 NA18980.hp2 NA18999.hp2 NA19004.hp2 NA19007.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp2 NA19066.hp2 NA19075.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp2 NA19086.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 others(1): Show a0001c0001 a0002c0003 a0002c0004 a0002c0022	a0001c0001t0001 a0002c0003t0001 a0002c0004t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0002c0004t0001 a0002c0022t0001	a0001c0001t0001g0083 a0001c0001t0001g0181 a0002c0003t0001g0002 others(18): Show a0001c0001t0001g0083 a0001c0001t0001g0181 a0002c0003t0001g0002 a0002c0003t0001g0009 a0002c0003t0001g0010 a0002c0003t0001g0148 a0002c0003t0001g0160 a0002c0003t0001g0161 a0002c0003t0001g0162 a0002c0003t0001g0163 a0002c0003t0001g0173 a0002c0003t0001g0176 a0002c0003t0001g0179 a0002c0003t0001g0209 a0002c0003t0001g0218 a0002c0003t0001g0219 a0002c0003t0001g0220 a0002c0003t0001g0300 a0002c0004t0001g0082 a0002c0004t0001g0240 a0002c0022t0001g0093	27	376	0.0718	16	c.460 others(33): Show c.460-2420_460-2419insAAAAAAAAAAAAAAAA	CASS4	ENSG00000087589.17	transcript	ENST00000679887.1	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
CASTOR2_chr7_74959705_75036528	74960681	A A	AAAATATA others(9): Show AAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 NA19004.hp2 HG00733.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0073 a0001c0001t0052 a0001c0001t0073	a0001c0001t0052g0037 a0001c0001t0073g0026 a0001c0001t0052g0037 a0001c0001t0073g0026	2	228	0.0088	16	c.-43 others(27): Show c.-4305_-4304insAAATATATATATATAT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		4023		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965905	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0224 a0001c0001t0003g0224	1	228	0.0044	16	c.113 others(31): Show c.113+815_113+816insTCTCTCTGTCTCTCTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	75026189	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0019 a0001c0001t0075g0019	1	228	0.0044	16	c.14 others(27): Show c.1492_*1507dupTTTTTTTTTTTTTTTT	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(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02258.hp1 HG03579.hp2 HG00423.hp2 HG02258.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0063 a0001c0001t0001g0127 a0001c0001t0002g0059 a0001c0001t0001g0063 a0001c0001t0001g0127 a0001c0001t0002g0059	3	358	0.0084	16	c.138 others(33): Show c.138+4763_138+4778dupAAAAAAAAAAAAAAAA	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(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG01192.hp1 others(18): Show HG00140.hp2 HG00609.hp1 HG01192.hp1 HG01243.hp1 HG01516.hp2 HG01934.hp2 HG02155.hp2 HG02257.hp2 HG02280.hp1 HG02602.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03490.hp2 HG03831.hp2 HG06807.hp2 NA18522.hp2 NA18988.hp1 NA18995.hp1 NA19000.hp2 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0012 a0002c0003 others(1): Show a0001c0001 a0001c0012 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0012t0001 a0001c0012t0012 a0002c0003t0001 a0002c0003t0003 a0002c0003t0010 a0002c0004t0003	a0001c0001t0001g0143 a0001c0001t0001g0263 a0001c0001t0002g0262 others(17): Show a0001c0001t0001g0143 a0001c0001t0001g0263 a0001c0001t0002g0262 a0001c0001t0002g0280 a0001c0001t0006g0279 a0001c0012t0001g0328 a0001c0012t0012g0270 a0002c0003t0001g0239 a0002c0003t0001g0240 a0002c0003t0003g0015 a0002c0003t0003g0268 a0002c0003t0003g0271 a0002c0003t0003g0278 a0002c0003t0003g0309 a0002c0003t0003g0312 a0002c0003t0003g0319 a0002c0003t0003g0320 a0002c0003t0003g0331 a0002c0003t0010g0284 a0002c0004t0003g0260	21	358	0.0587	16	c.210 others(31): Show c.210+792_210+793insAAAAAAAAAAAAAAAA	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAST_chr5_96657376_96779683	96776223	T T	TAGCCCAT others(9): Show TAGCCCATTCATGAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG00639.hp1 others(49): Show HG00099.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01516.hp2 HG01934.hp2 HG01943.hp1 HG02004.hp1 HG02083.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG03098.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03942.hp1 NA18612.hp1 NA18946.hp1 NA18954.hp2 NA18956.hp1 NA18959.hp1 NA18963.hp1 NA18982.hp2 NA18988.hp1 NA18995.hp1 NA18997.hp2 NA19004.hp1 NA19005.hp2 NA19011.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0006 a0009c0023	a0001c0001t0003 a0001c0002t0003 a0002c0003t0003 others(3): Show a0001c0001t0003 a0001c0002t0003 a0002c0003t0003 a0002c0004t0003 a0002c0006t0003 a0009c0023t0003	a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0002t0003g0204 others(46): Show a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0002t0003g0204 a0002c0003t0003g0015 a0002c0003t0003g0016 a0002c0003t0003g0021 a0002c0003t0003g0100 a0002c0003t0003g0174 a0002c0003t0003g0268 a0002c0003t0003g0271 a0002c0003t0003g0275 a0002c0003t0003g0278 a0002c0003t0003g0281 a0002c0003t0003g0305 a0002c0003t0003g0306 a0002c0003t0003g0308 a0002c0003t0003g0309 a0002c0003t0003g0310 a0002c0003t0003g0311 a0002c0003t0003g0312 a0002c0003t0003g0314 a0002c0003t0003g0316 a0002c0003t0003g0317 a0002c0003t0003g0319 a0002c0003t0003g0320 a0002c0003t0003g0321 a0002c0003t0003g0324 a0002c0003t0003g0325 a0002c0003t0003g0326 a0002c0003t0003g0327 a0002c0003t0003g0330 a0002c0003t0003g0331 a0002c0003t0003g0333 a0002c0003t0003g0338 a0002c0003t0003g0339 a0002c0003t0003g0340 a0002c0004t0003g0006 a0002c0004t0003g0124 a0002c0004t0003g0260 a0002c0004t0003g0297 a0002c0004t0003g0298 a0002c0004t0003g0299 a0002c0004t0003g0300 a0002c0006t0003g0201 a0002c0006t0003g0212 a0002c0006t0003g0213 a0002c0006t0003g0232 a0002c0006t0003g0237 a0009c0023t0003g0039	52	358	0.1453	16	c.36 others(27): Show c.3607_*3608insAGCCCATTCATGAAAA	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding		1541		chr5	TogoVar
CASZ1_chr1_10631604_10801646	10700080	G G	GACACACA others(9): Show GACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02615.hp2 HG02970.hp1 others(3): Show HG01255.hp2 HG02615.hp2 HG02970.hp1 HG03710.hp2 NA18942.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0013 a0001c0001t0014 a0001c0002t0001 others(3): Show a0001c0001t0013 a0001c0001t0014 a0001c0002t0001 a0001c0002t0007 a0001c0003t0002 a0001c0003t0005	a0001c0001t0013g0043 a0001c0001t0014g0224 a0001c0002t0001g0076 others(3): Show a0001c0001t0013g0043 a0001c0001t0014g0224 a0001c0002t0001g0076 a0001c0002t0007g0080 a0001c0003t0002g0100 a0001c0003t0005g0003	6	236	0.0254	16	c.-24 others(33): Show c.-24+5396_-24+5411dupGTGTGTGTGTGTGTGT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	3/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10741790	T T	TTATATTT others(9): Show TTATATTTTTATATATA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp2 NA18747.hp2 others(1): Show NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0001c0001t0001 a0001c0002t0001 a0001c0003t0002	a0001c0001t0001g0102 a0001c0001t0001g0192 a0001c0002t0001g0121 others(1): Show a0001c0001t0001g0102 a0001c0001t0001g0192 a0001c0002t0001g0121 a0001c0003t0002g0100	4	236	0.0170	16	c.-77 others(35): Show c.-77+18910_-77+18911insTATATATAAAAATATA	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10765495	C C	CACGGCCC others(9): Show CACGGCCCACGACGGGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18906.hp1 HG02258.hp1 NA18906.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0017 a0001c0002 a0006c0017	a0001c0002t0001 a0006c0017t0041 a0001c0002t0001 a0006c0017t0041	a0001c0002t0001g0089 a0006c0017t0041g0090 a0001c0002t0001g0089 a0006c0017t0041g0090	2	236	0.0085	16	c.-23 others(35): Show c.-233-4654_-233-4639dupACCCGTCGTGGGCCGT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	1/20			chr1	TogoVar
CATIP_chr2_218351857_218373094	218357259	G G	GTCTCTCT others(9): Show GTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01099.hp2 HG01123.hp1 others(17): Show HG00741.hp1 HG01099.hp2 HG01123.hp1 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01884.hp1 HG02071.hp1 HG02148.hp1 NA18906.hp2 NA18939.hp1 NA18955.hp2 NA18964.hp1 NA18985.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp2 NA19063.hp1 NA19070.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0026 a0001c0001t0001g0097 a0001c0001t0001g0098 others(12): Show a0001c0001t0001g0026 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0025 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0002c0003t0001g0016	20	366	0.0546	16	c.118 others(30): Show c.118+88_118+103dupCTCTCTCTCTCTCTCT	CATIP	ENSG00000158428.4	transcript	ENST00000289388.4	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CATIP_chr2_218351857_218373094	218359341	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03130.hp2 HG02559.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0054 a0001c0001t0001g0055	2	366	0.0055	16	c.376 others(33): Show c.376-1224_376-1209dupAAAAAAAAAAAAAAAA	CATIP	ENSG00000158428.4	transcript	ENST00000289388.4	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CATSPER2_chr15_43623503_43653844	43638286	C C	CTTTCTTT others(9): Show CTTTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp1 HG02976.hp2 others(1): Show HG02615.hp2 HG02647.hp1 HG02976.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0009 a0001c0001t0002 a0002c0002t0009	a0001c0001t0002g0193 a0001c0001t0002g0203 a0001c0001t0002g0204 others(1): Show a0001c0001t0002g0193 a0001c0001t0002g0203 a0001c0001t0002g0204 a0002c0002t0009g0196	4	392	0.0102	16	c.842 others(31): Show c.842+617_842+618insAAAAAAAAAAAAGAAA	CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding	7/12			chr15	TogoVar
CATSPER4_chr1_26185602_26207964	26199598	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG01069.hp1 others(25): Show HG00639.hp1 HG00642.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01123.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG02015.hp2 HG02145.hp1 HG02451.hp2 HG02602.hp1 HG02622.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03579.hp2 HG03704.hp1 HG03834.hp1 HG06807.hp2 NA18522.hp2	a0003 a0006 a0007 a0003 a0006 a0007	a0003c0004 a0003c0006 a0006c0008 others(1): Show a0003c0004 a0003c0006 a0006c0008 a0007c0012	a0003c0004t0001 a0003c0004t0002 a0003c0006t0001 others(3): Show a0003c0004t0001 a0003c0004t0002 a0003c0006t0001 a0006c0008t0001 a0006c0008t0002 a0007c0012t0001	a0003c0004t0001g0009 a0003c0004t0001g0014 a0003c0004t0001g0028 others(17): Show a0003c0004t0001g0009 a0003c0004t0001g0014 a0003c0004t0001g0028 a0003c0004t0001g0049 a0003c0004t0001g0052 a0003c0004t0001g0053 a0003c0004t0001g0055 a0003c0004t0001g0056 a0003c0004t0001g0057 a0003c0004t0001g0058 a0003c0004t0001g0061 a0003c0004t0001g0062 a0003c0004t0002g0014 a0003c0004t0002g0051 a0003c0006t0001g0009 a0006c0008t0001g0027 a0006c0008t0001g0124 a0006c0008t0002g0113 a0007c0012t0001g0029 a0007c0012t0001g0064	28	398	0.0704	16	c.813 others(31): Show c.813-273_813-272insAAAAAAAAAAAAAAAA	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPER4_chr1_26185602_26207964	26206481	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0126 a0002c0002t0002g0126	1	398	0.0025	16	c.39 others(27): Show c.3939_*3940insAAAGAAAGAAAGAAAG	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding		3518		chr1	TogoVar
CATSPER4_chr1_26185602_26207964	26207777	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	1	398	0.0025	16	c.52 others(27): Show c.5235_*5236insAAAGAAAGAAAGAAAG	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding		4814		chr1	TogoVar
CATSPERB_chr14_91575698_91737086	91586561	G G	GAGAGAGA others(9): Show GAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02895.hp2 HG02897.hp2 others(2): Show HG02630.hp1 HG02895.hp2 HG02897.hp2 HG03486.hp2 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0002t0001 a0003c0004t0004 a0001c0001t0001 a0001c0002t0001 a0003c0004t0004	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0002t0001g0178 others(2): Show a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0002t0001g0178 a0003c0004t0004g0001 a0003c0004t0004g0002	5	271	0.0185	16	c.313 others(33): Show c.3132+640_3132+641insTTCTCTCTCTCTCTCT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	26/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91586563	G G	GAGAGAGA others(9): Show GAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03209.hp2 HG03927.hp2 others(3): Show HG01243.hp2 HG03209.hp2 HG03927.hp2 HG06807.hp1 NA18961.hp2 NA18974.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0010 a0001c0001 a0002c0003 a0004c0010	a0001c0001t0001 a0002c0003t0001 a0004c0010t0001 a0001c0001t0001 a0002c0003t0001 a0004c0010t0001	a0001c0001t0001g0112 a0001c0001t0001g0158 a0001c0001t0001g0191 others(3): Show a0001c0001t0001g0112 a0001c0001t0001g0158 a0001c0001t0001g0191 a0001c0001t0001g0221 a0002c0003t0001g0050 a0004c0010t0001g0125	6	271	0.0221	16	c.313 others(33): Show c.3132+638_3132+639insTTCTCTCTCTCTCTCT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	26/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91586571	A A	AAGAGAGA others(9): Show AAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	271	0.0037	16	c.313 others(33): Show c.3132+615_3132+630dupCTCTCTCTCTCTCTCT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	26/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91587477	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG01192.hp2 others(1): Show HG00140.hp1 HG00735.hp1 HG01192.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0175 a0001c0001t0002g0179 others(1): Show a0001c0001t0002g0096 a0001c0001t0002g0175 a0001c0001t0002g0179 a0001c0001t0002g0208	4	271	0.0148	16	c.305 others(33): Show c.3058-217_3058-202dupAAAAAAAAAAAAAAAA	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	25/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91612012	T T	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG03098.hp1 others(4): Show HG01168.hp1 HG01169.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG04184.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0201 a0001c0001t0002g0033 a0001c0002t0001g0161 others(4): Show a0001c0001t0001g0201 a0001c0001t0002g0033 a0001c0002t0001g0161 a0001c0002t0002g0187 a0001c0002t0002g0189 a0001c0002t0002g0195 a0001c0002t0002g0262	7	271	0.0258	16	c.240 others(35): Show c.2401-1351_2401-1336dupGAAAGAAAGAAAGAAA	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	20/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91661524	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02015.hp1 NA19058.hp1 HG01168.hp2 HG02015.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0174 a0001c0001t0001g0190 a0001c0001t0001g0044 a0001c0001t0001g0174 a0001c0001t0001g0190	3	271	0.0111	16	c.128 others(35): Show c.1288-1559_1288-1544dupATATATATATATATAT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	14/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91736497	A A	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	271	0.0037	16	c.-45 others(27): Show c.-4569_-4568insCCTTCCTTCCTTCCTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding		4412		chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91736501	A A	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG03927.hp1 HG06807.hp1 others(3): Show HG01361.hp1 HG03927.hp1 HG06807.hp1 NA18961.hp2 NA19005.hp1 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0010	a0001c0001t0001 a0001c0002t0002 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0002 a0002c0003t0001 a0004c0010t0001	a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0002t0002g0136 others(3): Show a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0002t0002g0136 a0002c0003t0001g0037 a0002c0003t0001g0050 a0004c0010t0001g0125	6	271	0.0221	16	c.-45 others(27): Show c.-4588_-4573dupCCTTCCTTCCTTCCTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding		4416		chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91736526	A A	AAGGAAGG others(9): Show AAGGAAGGAAGGAAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01175.hp2 others(3): Show HG01069.hp1 HG01071.hp2 HG01175.hp2 HG02886.hp1 HG02922.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0152 a0001c0002t0001g0154	6	271	0.0221	16	c.-45 others(27): Show c.-4598_-4597insGCCTTCCTTCCTTCCT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding		4441		chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5716253	A A	AATATATA others(9): Show AATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0049 a0002c0002t0001g0049	1	336	0.0030	16	c.-44 others(27): Show c.-4485_-4484insATATATATATATATAT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4383		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5716259	C C	CATATATA others(9): Show CATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01975.hp1 HG02559.hp2 others(12): Show HG01934.hp1 HG01975.hp1 HG02559.hp2 HG02818.hp2 HG02896.hp1 HG02922.hp1 HG03139.hp1 HG03139.hp2 HG03654.hp1 HG03927.hp1 HG04228.hp2 NA18972.hp1 NA19074.hp2 NA19240.hp2 NA20805.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0017 a0029	a0001c0001 a0003c0004 a0003c0005 others(4): Show a0001c0001 a0003c0004 a0003c0005 a0004c0003 a0005c0006 a0017c0014 a0029c0039	a0001c0001t0001 a0001c0001t0004 a0003c0004t0001 others(6): Show a0001c0001t0001 a0001c0001t0004 a0003c0004t0001 a0003c0005t0001 a0004c0003t0001 a0004c0003t0003 a0005c0006t0001 a0017c0014t0002 a0029c0039t0001	a0001c0001t0001g0051 a0001c0001t0001g0099 a0001c0001t0001g0100 others(12): Show a0001c0001t0001g0051 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0231 a0001c0001t0004g0106 a0003c0004t0001g0303 a0003c0005t0001g0214 a0004c0003t0001g0218 a0004c0003t0003g0075 a0004c0003t0003g0131 a0005c0006t0001g0207 a0005c0006t0001g0212 a0017c0014t0002g0011 a0017c0014t0002g0013 a0029c0039t0001g0140	15	336	0.0446	16	c.-44 others(27): Show c.-4479_-4478insATATATATATATATAT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4377		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5730561	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01258.hp1 NA19091.hp2 HG00738.hp2 HG01258.hp1 NA19091.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 a0001c0001t0001 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0189 a0002c0002t0001g0190 a0003c0004t0001g0246 a0001c0001t0001g0189 a0002c0002t0001g0190 a0003c0004t0001g0246	3	336	0.0089	16	c.276 others(31): Show c.276+620_276+635dupATAAATAAATAAATAA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5735607	G G	GGACTACA others(9): Show GGACTACAGGCGTGTGC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0087 a0004c0003t0001g0087	1	336	0.0030	16	c.392 others(33): Show c.392-1530_392-1515dupGACTACAGGCGTGTGC	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5741785	C C	CGGGGGGG others(9): Show CGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19074.hp2 NA20752.hp2 HG02055.hp1 NA19074.hp2 NA20752.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0003 a0001c0001 a0003c0004 a0004c0003	a0001c0001t0001 a0003c0004t0001 a0004c0003t0003 a0001c0001t0001 a0003c0004t0001 a0004c0003t0003	a0001c0001t0001g0039 a0003c0004t0001g0061 a0004c0003t0003g0075 a0001c0001t0001g0039 a0003c0004t0001g0061 a0004c0003t0003g0075	3	336	0.0089	16	c.573 others(33): Show c.573+2359_573+2360insGGGGGGGGGGGGGGGG	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5750450	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0199 a0003c0004t0001g0199	1	336	0.0030	16	c.988 others(33): Show c.988-1189_988-1174dupAAAAAAAAAAAAAAAA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5751531	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0296 a0001c0001t0002g0296	1	336	0.0030	16	c.988 others(29): Show c.988-94_988-79dupAAAAAAAAAAAAAAAA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762041	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18983.hp1 NA18990.hp2 NA18952.hp2 NA18983.hp1 NA18990.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0110 a0004c0003t0001g0245 a0004c0003t0001g0248 a0004c0003t0001g0110 a0004c0003t0001g0245 a0004c0003t0001g0248	3	336	0.0089	16	c.142 others(35): Show c.1428-1171_1428-1156dupATATATATATATATAT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar

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