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
CASQ2_chr1_115695021_115773714	115761429	G G	GGGCAACA others(4): Show GGGCAACAGAAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0011 a0002c0004t0011	a0002c0004t0011g0020 a0002c0004t0011g0020	1	364	0.0028	11	c.234 others(28): Show c.234+6878_234+6879insATTCTGTTGCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASR_chr3_122178668_122296629	122252395	G G	GAAAAAGA others(4): Show GAAAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG01109.hp1 HG01109.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0019 a0004c0003t0004 a0001c0001t0019 a0004c0003t0004	a0001c0001t0019g0098 a0004c0003t0004g0159 a0001c0001t0019g0098 a0004c0003t0004g0159	2	314	0.0064	11	c.-24 others(30): Show c.-242-1551_-242-1550insAAAGAAAGAAA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(4): Show AGGAAGGAAAAG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	314	0.0032	11	c.-24 others(30): Show c.-242-1539_-242-1538insGGAAGGAAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASTOR2_chr7_74959705_75036528	74960666	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	228	0.0044	11	c.-43 others(22): Show c.-4320_-4319insAAAAAAAAAAA	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		4038		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74960681	A A	AAAAAAAA others(4): Show AAAAAAAAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	228	0.0044	11	c.-43 others(22): Show c.-4305_-4304insAAAAAAAAAAT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		4023		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74960681	A A	AAAAATAT others(4): Show AAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	228	0.0044	11	c.-43 others(22): Show c.-4305_-4304insAAAATATATAT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		4023		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74960681	A A	AAATATAT others(4): Show AAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	228	0.0044	11	c.-43 others(22): Show c.-4305_-4304insAATATATATAT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		4023		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74995511	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG02055.hp2 others(4): Show HG01109.hp2 HG01243.hp1 HG02055.hp2 HG02280.hp1 HG02486.hp2 HG02976.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0028	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0003g0057 others(4): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0003g0057 a0001c0001t0008g0053 a0001c0001t0009g0010 a0001c0001t0014g0062 a0001c0001t0028g0048	7	228	0.0307	11	c.114 others(30): Show c.114-12479_114-12469dupAAAAAAAAAAA	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAST_chr5_96657376_96779683	96666257	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	358	0.0028	11	c.75+ others(26): Show c.75+3760_75+3761insCACACACACAC	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	1/31			chr5	TogoVar
CAST_chr5_96657376_96779683	96680354	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02976.hp1 HG03017.hp1 others(23): Show HG02451.hp1 HG02976.hp1 HG03017.hp1 HG03540.hp2 HG04199.hp2 HG04204.hp2 NA18612.hp2 NA18939.hp2 NA18946.hp2 NA18952.hp1 NA18957.hp1 NA18962.hp1 NA18974.hp2 NA18977.hp2 NA18984.hp2 NA18989.hp1 NA18997.hp1 NA19002.hp1 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19080.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0021 a0002c0004 a0001c0001 a0001c0021 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0021t0009 a0002c0004t0001	a0001c0001t0001g0024 a0001c0001t0001g0079 a0001c0001t0001g0082 others(23): Show a0001c0001t0001g0024 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0097 a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0098 a0001c0001t0002g0119 a0001c0001t0010g0023 a0001c0021t0009g0035 a0002c0004t0001g0048 a0002c0004t0001g0049 a0002c0004t0001g0053 a0002c0004t0001g0113	26	358	0.0726	11	c.138 others(28): Show c.138+4768_138+4778dupAAAAAAAAAAA	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(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00639.hp1 others(63): Show HG00140.hp1 HG00544.hp1 HG00639.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01515.hp1 HG01517.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02083.hp2 HG02129.hp1 HG02148.hp2 HG02155.hp1 HG02293.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG03017.hp2 HG03098.hp2 HG03225.hp2 HG03492.hp1 HG03654.hp2 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04228.hp2 NA18939.hp1 NA18944.hp2 NA18945.hp2 NA18949.hp1 NA18954.hp2 NA18963.hp2 NA18964.hp2 NA18970.hp2 NA18972.hp2 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18990.hp2 NA18991.hp2 NA18994.hp2 NA19000.hp1 NA19001.hp1 NA19009.hp2 NA19011.hp1 NA19058.hp1 NA19060.hp1 NA19085.hp1 NA19086.hp1 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0006 a0007 a0011 a0012 a0014	a0001c0002 a0001c0028 a0002c0006 others(8): Show a0001c0002 a0001c0028 a0002c0006 a0002c0024 a0004c0008 a0005c0010 a0006c0009 a0007c0015 a0011c0026 a0012c0025 a0014c0027	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(13): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0017 a0001c0028t0001 a0002c0006t0001 a0002c0006t0003 a0002c0024t0001 a0004c0008t0011 a0005c0010t0014 a0005c0010t0024 a0006c0009t0008 a0007c0015t0012 a0011c0026t0001 a0012c0025t0001 a0014c0027t0001	a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0012 others(60): Show a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0183 a0001c0002t0001g0186 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0220 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0235 a0001c0002t0001g0241 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0250 a0001c0002t0001g0302 a0001c0002t0001g0304 a0001c0002t0002g0202 a0001c0002t0002g0301 a0001c0002t0003g0204 a0001c0002t0017g0195 a0001c0002t0017g0219 a0001c0028t0001g0230 a0002c0006t0001g0040 a0002c0006t0001g0041 a0002c0006t0003g0201 a0002c0006t0003g0212 a0002c0006t0003g0213 a0002c0006t0003g0232 a0002c0024t0001g0225 a0004c0008t0011g0238 a0005c0010t0014g0131 a0005c0010t0024g0042 a0006c0009t0008g0139 a0006c0009t0008g0140 a0006c0009t0008g0141 a0006c0009t0008g0142 a0007c0015t0012g0137 a0007c0015t0012g0138 a0011c0026t0001g0017 a0012c0025t0001g0019 a0014c0027t0001g0221	66	358	0.1844	11	c.210 others(26): Show c.210+782_210+792dupAAAAAAAAAAA	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CASZ1_chr1_10631604_10801646	10663372	C C	CTGTGTGC others(4): Show CTGTGTGCTGAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02109.hp1 HG02145.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0037 a0001c0004 a0002c0037	a0001c0004t0001 a0002c0037t0061 a0001c0004t0001 a0002c0037t0061	a0001c0004t0001g0134 a0002c0037t0061g0174 a0001c0004t0001g0134 a0002c0037t0061g0174	2	236	0.0085	11	c.505 others(28): Show c.505+1710_505+1711insCTCAGCACACA	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	5/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10693497	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0037 a0002c0037	a0002c0037t0061 a0002c0037t0061	a0002c0037t0061g0174 a0002c0037t0061g0174	1	236	0.0042	11	c.16+ others(24): Show c.16+366_16+376dupTTTTTTTTTTT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	4/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10722442	A A	AGCGAACA others(4): Show AGCGAACAAGGG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0043 a0001c0001t0013g0043	1	236	0.0042	11	c.-76 others(30): Show c.-76-16899_-76-16898insCCCTTGTTCGC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10743417	A A	AGGAGAGC others(4): Show AGGAGAGCCCTG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG03927.hp2 HG02155.hp1 HG03927.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0058 a0003c0010t0021 a0001c0001t0058 a0003c0010t0021	a0001c0001t0058g0197 a0003c0010t0021g0231 a0001c0001t0058g0197 a0003c0010t0021g0231	2	236	0.0085	11	c.-77 others(30): Show c.-77+17273_-77+17283dupCAGGGCTCTCC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CATIP_chr2_218351857_218373094	218359341	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA19030.hp1 HG03540.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	2	366	0.0055	11	c.376 others(28): Show c.376-1219_376-1209dupAAAAAAAAAAA	CATIP	ENSG00000158428.4	transcript	ENST00000289388.4	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CATSPER1_chr11_66011752_66031479	66027488	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0023 a0002c0005t0003g0023	1	408	0.0025	11	c.-11 others(22): Show c.-1110_-1109insAAAAAAAAAAA	CATSPER1	ENSG00000175294.6	transcript	ENST00000312106.6	protein_coding		1010		chr11	TogoVar
CATSPER1_chr11_66011752_66031479	66029708	G G	GAAAGTAA others(4): Show GAAAGTAATGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01074.hp2 HG01433.hp1 others(1): Show HG00738.hp1 HG01074.hp2 HG01433.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0028 a0001c0001 a0001c0028	a0001c0001t0001 a0001c0028t0001 a0001c0001t0001 a0001c0028t0001	a0001c0001t0001g0016 a0001c0028t0001g0138 a0001c0001t0001g0016 a0001c0028t0001g0138	4	408	0.0098	11	c.-33 others(22): Show c.-3330_-3329insTTCATTACTTT	CATSPER1	ENSG00000175294.6	transcript	ENST00000312106.6	protein_coding		3230		chr11	TogoVar
CATSPERB_chr14_91575698_91737086	91587477	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	271	0.0037	11	c.305 others(28): Show c.3058-212_3058-202dupAAAAAAAAAAA	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	25/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91709524	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01361.hp1 HG02015.hp2 others(18): Show HG01175.hp1 HG01361.hp1 HG02015.hp2 HG02300.hp1 HG02622.hp1 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18947.hp2 NA18956.hp1 NA18956.hp2 NA18974.hp1 NA19000.hp1 NA19009.hp1 NA19076.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0002c0003t0001	a0001c0001t0001g0029 a0001c0001t0001g0051 a0001c0001t0001g0052 others(18): Show a0001c0001t0001g0029 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0109 a0001c0001t0001g0119 a0001c0001t0001g0133 a0001c0001t0002g0033 a0001c0001t0002g0064 a0001c0002t0002g0120 a0001c0002t0002g0136 a0002c0003t0001g0039	21	271	0.0775	11	c.371 others(28): Show c.371-1299_371-1289dupTTTTTTTTTTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	5/26			chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5731560	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02818.hp2 others(4): Show HG01884.hp1 HG01891.hp1 HG02818.hp2 HG03516.hp1 HG03540.hp1 HG04228.hp1 NA21309.hp2	a0001 a0002 a0031 a0001 a0002 a0031	a0001c0001 a0002c0002 a0031c0028 a0001c0001 a0002c0002 a0031c0028	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0031c0028t0001	a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0099 others(4): Show a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0099 a0001c0001t0001g0128 a0001c0001t0002g0064 a0002c0002t0001g0050 a0031c0028t0001g0130	7	336	0.0208	11	c.276 others(28): Show c.276+1632_276+1642dupTTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5741785	C C	CGGGGGGG others(4): Show CGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02293.hp1 HG03516.hp1 others(2): Show HG01433.hp2 HG02293.hp1 HG03516.hp1 HG03579.hp2 HG04228.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 a0001c0001t0001 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0054 a0001c0001t0001g0090 a0002c0002t0001g0050 others(2): Show a0001c0001t0001g0054 a0001c0001t0001g0090 a0002c0002t0001g0050 a0002c0002t0001g0056 a0003c0004t0001g0336	5	336	0.0149	11	c.573 others(28): Show c.573+2349_573+2359dupGGGGGGGGGGG	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5741800	G G	GGGGGGGG others(4): Show GGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA18522.hp1 HG00280.hp1 NA18522.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0015 a0001c0001 a0012c0015	a0001c0001t0001 a0012c0015t0001 a0001c0001t0001 a0012c0015t0001	a0001c0001t0001g0045 a0012c0015t0001g0122 a0001c0001t0001g0045 a0012c0015t0001g0122	2	336	0.0060	11	c.573 others(28): Show c.573+2362_573+2363insGGGGGGGGGTG	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5741801	G G	GGGGGGGG others(4): Show GGGGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	336	0.0030	11	c.573 others(28): Show c.573+2362_573+2363insGGGGGGGGGGA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	7/21			chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5751531	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0043 a0003c0043	a0003c0043t0001 a0003c0043t0001	a0003c0043t0001g0233 a0003c0043t0001g0233	1	336	0.0030	11	c.988 others(24): Show c.988-89_988-79dupAAAAAAAAAAA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	336	0.0030	11	c.142 others(30): Show c.1428-1156_1428-1155insATATATATATT	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(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	336	0.0030	11	c.142 others(30): Show c.1428-1156_1428-1155insATATATATTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5763847	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG00642.hp1 others(23): Show HG00609.hp1 HG00609.hp2 HG00642.hp1 HG01258.hp1 HG01361.hp1 HG01515.hp2 HG02145.hp2 HG02257.hp1 HG02451.hp2 HG02559.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02886.hp1 HG02976.hp1 HG03098.hp1 HG03225.hp1 HG03486.hp2 HG04228.hp2 NA18943.hp1 NA18995.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19091.hp1 NA20300.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0008 a0018 a0022 a0027	a0001c0001 a0002c0002 a0003c0004 others(6): Show a0001c0001 a0002c0002 a0003c0004 a0003c0005 a0003c0043 a0008c0009 a0018c0020 a0022c0025 a0027c0036	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0004t0001 a0003c0005t0001 a0003c0043t0001 a0008c0009t0001 a0018c0020t0001 a0022c0025t0001 a0027c0036t0001	a0001c0001t0001g0001 a0001c0001t0001g0055 a0001c0001t0001g0060 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0078 a0001c0001t0001g0145 a0001c0001t0001g0310 a0001c0001t0001g0318 a0001c0001t0002g0226 a0002c0002t0001g0283 a0002c0002t0001g0299 a0003c0004t0001g0058 a0003c0004t0001g0192 a0003c0004t0001g0246 a0003c0004t0001g0324 a0003c0004t0001g0328 a0003c0004t0001g0333 a0003c0005t0001g0185 a0003c0005t0001g0214 a0003c0005t0001g0249 a0003c0005t0001g0254 a0003c0005t0001g0269 a0003c0043t0001g0233 a0008c0009t0001g0008 a0018c0020t0001g0018 a0022c0025t0001g0146 a0027c0036t0001g0297	26	336	0.0774	11	c.150 others(28): Show c.1506+562_1506+572dupTTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244553598	A A	ATACACAC others(4): Show ATACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18522.hp1 HG01496.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0003 a0001c0003t0002 a0001c0003t0003	a0001c0003t0002g0006 a0001c0003t0003g0190 a0001c0003t0002g0006 a0001c0003t0003g0190	2	206	0.0097	11	c.102 others(28): Show c.1029+784_1029+785insTACACACACAC	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	9/21			chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244557583	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	206	0.0049	11	c.103 others(30): Show c.1030-3085_1030-3084insTATATATATAT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	9/21			chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244621306	A A	AAATATAT others(4): Show AAATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	206	0.0049	11	c.264 others(30): Show c.2648+3621_2648+3622insATATATATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625426	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03195.hp1 HG02970.hp1 HG03195.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0016 a0002c0004t0002g0017 a0002c0004t0002g0016 a0002c0004t0002g0017	2	206	0.0097	11	c.264 others(30): Show c.2648+7741_2648+7742insTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625428	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	206	0.0049	11	c.264 others(30): Show c.2648+7743_2648+7744insTTTTTTTTTTT	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(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	206	0.0049	11	c.264 others(30): Show c.2648+7751_2648+7761dupTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAT_chr11_34433934_34477060	34445495	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	424	0.0024	11	c.67- others(26): Show c.67-3680_67-3670dupAAAAAAAAAAA	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(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03579.hp2 NA21309.hp2 HG01433.hp1 HG03579.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0014 a0001c0001t0018 a0001c0001t0008 a0001c0001t0014 a0001c0001t0018	a0001c0001t0008g0068 a0001c0001t0014g0269 a0001c0001t0018g0018 a0001c0001t0008g0068 a0001c0001t0014g0269 a0001c0001t0018g0018	3	342	0.0088	11	c.195 others(28): Show c.195+3522_195+3532dupTTTTTTTTTTT	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(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	342	0.0029	11	c.195 others(28): Show c.195+7707_195+7708insATATATATATT	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(4): Show ATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	342	0.0029	11	c.195 others(28): Show c.195+7707_195+7708insATTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAVIN1_chr17_42397449_42428256	42405682	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03139.hp1 NA18906.hp2 HG02280.hp1 HG03139.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0099 a0001c0003t0006g0106 a0001c0003t0006g0107 a0001c0003t0006g0099 a0001c0003t0006g0106 a0001c0003t0006g0107	3	338	0.0089	11	c.472 others(26): Show c.472-305_472-295dupAAAAAAAAAAA	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1			chr17	TogoVar
CAVIN1_chr17_42397449_42428256	42411192	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01099.hp1 HG01891.hp1 others(10): Show HG00280.hp2 HG01099.hp1 HG01891.hp1 HG01943.hp1 HG02922.hp1 HG03041.hp2 HG03209.hp2 HG03225.hp2 HG03579.hp1 NA18974.hp1 NA18994.hp2 NA19043.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 a0001c0007t0001	a0001c0001t0001g0005 a0001c0001t0001g0038 a0001c0001t0001g0050 others(8): Show a0001c0001t0001g0005 a0001c0001t0001g0038 a0001c0001t0001g0050 a0001c0001t0001g0147 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0197 a0001c0001t0001g0214 a0001c0001t0011g0229 a0001c0001t0014g0149 a0001c0007t0001g0030	13	338	0.0385	11	c.472 others(28): Show c.472-5815_472-5805dupTTTTTTTTTTT	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1			chr17	TogoVar
CAVIN1_chr17_42397449_42428256	42413566	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	338	0.0030	11	c.472 others(28): Show c.472-8189_472-8179dupTTTTTTTTTTT	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1			chr17	TogoVar
CBFA2T2_chr20_33485096_33655030	33494271	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0292 a0001c0001t0004g0292	1	298	0.0034	11	c.34+ others(26): Show c.34+3971_34+3972insTTTTTTTTTTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33494273	A A	ATATATTT others(4): Show ATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	298	0.0034	11	c.34+ others(26): Show c.34+3973_34+3974insATATTTTTTTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33494273	A A	ATATTTTT others(4): Show ATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	298	0.0034	11	c.34+ others(26): Show c.34+3973_34+3974insATTTTTTTTTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33494274	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02273.hp2 HG03486.hp2 HG00438.hp1 HG02273.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0040 a0001c0001t0004g0042 a0001c0001t0004g0030 a0001c0001t0004g0040 a0001c0001t0004g0042	3	298	0.0101	11	c.34+ others(26): Show c.34+3973_34+3974insATATATATATA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10			chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33559172	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp2 HG01167.hp1 others(14): Show HG00738.hp2 HG01070.hp2 HG01167.hp1 HG01169.hp2 HG01496.hp1 HG01952.hp1 HG02273.hp2 HG02615.hp2 HG02630.hp1 HG03098.hp2 HG03139.hp2 HG06807.hp1 NA18944.hp2 NA18960.hp2 NA18975.hp2 NA19012.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 others(14): Show a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0028 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0056 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0015g0015	17	298	0.0571	11	c.35- others(28): Show c.35-47773_35-47763dupTTTTTTTTTTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33621287	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	298	0.0034	11	c.510 others(28): Show c.510+1697_510+1707dupTTTTTTTTTTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFB_chr16_67024149_67106058	67037666	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0210 a0001c0001t0004g0210	1	212	0.0047	11	c.282 others(26): Show c.282+920_282+930dupTTTTTTTTTTT	CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBFB_chr16_67024149_67106058	67055357	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	212	0.0047	11	c.283 others(30): Show c.283-11308_283-11298dupTTTTTTTTTTT	CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBFB_chr16_67024149_67106058	67066393	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02080.hp2 HG02630.hp1 others(4): Show HG01109.hp1 HG02080.hp2 HG02630.hp1 HG03209.hp1 HG03453.hp1 NA18948.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0029 a0001c0001t0001g0161 a0001c0001t0001g0167 others(4): Show a0001c0001t0001g0029 a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0005g0190 a0001c0001t0008g0030	7	212	0.0330	11	c.283 others(26): Show c.283-282_283-272dupAAAAAAAAAAA	CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr16	TogoVar

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