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
CARS1_chr11_2995929_3062423	3031996	T T	TTCCTTCC others(5): Show TTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	321	0.0031	12	c.802 others(29): Show c.802-2554_802-2553insGGGAAGGAAGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CARS2_chr13_110636417_110711116	110679650	C C	CGGAGGGA others(5): Show CGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01123.hp1 HG01243.hp2 others(34): Show HG00642.hp2 HG01123.hp1 HG01243.hp2 HG01884.hp2 HG01975.hp2 HG01993.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02109.hp2 HG02258.hp2 HG02273.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02922.hp2 HG03041.hp2 HG03139.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp2 NA18522.hp2 NA18939.hp2 NA18945.hp2 NA18946.hp2 NA18971.hp2 NA18972.hp2 NA18977.hp2 NA19007.hp1 NA19057.hp1 NA19078.hp2 NA19085.hp2 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0004 others(1): Show a0001c0001 a0001c0003 a0002c0004 a0005c0010	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0002c0004t0003 a0005c0010t0001	a0001c0001t0001g0012 a0001c0001t0001g0080 a0001c0001t0001g0081 others(29): Show a0001c0001t0001g0012 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0231 a0001c0001t0001g0294 a0001c0003t0001g0158 a0001c0003t0001g0290 a0001c0003t0001g0292 a0001c0003t0001g0297 a0001c0003t0002g0006 a0001c0003t0002g0021 a0001c0003t0002g0022 a0001c0003t0002g0283 a0001c0003t0002g0284 a0001c0003t0002g0285 a0001c0003t0002g0287 a0001c0003t0002g0288 a0001c0003t0002g0289 a0001c0003t0002g0291 a0001c0003t0002g0293 a0001c0003t0002g0295 a0001c0003t0002g0296 a0001c0003t0002g0298 a0001c0003t0002g0299 a0001c0003t0002g0301 a0002c0004t0003g0302 a0005c0010t0001g0100	37	372	0.0995	12	c.656 others(29): Show c.656-2559_656-2548dupCTCCCTCCCTCC	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14			chr13	TogoVar
CASC3_chr17_40135537_40177171	40140317	A A	AACACACA others(5): Show AACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01123.hp2 HG00597.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0079 a0001c0001t0001g0044 a0001c0001t0001g0079	2	266	0.0075	12	c.-23 others(21): Show c.-232_-231insACACACACACAC	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		219		chr17	TogoVar
CASC3_chr17_40135537_40177171	40140355	C C	CACACACA others(5): Show CACACACACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02622.hp1 HG01884.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0202 a0001c0001t0001g0024 a0001c0001t0001g0202	2	266	0.0075	12	c.-19 others(21): Show c.-194_-193insACACACACCCCA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		181		chr17	TogoVar
CASC3_chr17_40135537_40177171	40140360	A A	ACCACCAA others(5): Show ACCACCAACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	266	0.0038	12	c.-18 others(21): Show c.-189_-188insCCACCAACACAC	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		176		chr17	TogoVar
CASC3_chr17_40135537_40177171	40140373	A A	AACACACA others(5): Show AACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02451.hp1 HG03225.hp2 others(1): Show HG00741.hp2 HG02451.hp1 HG03225.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0092 a0001c0001t0001g0120 others(1): Show a0001c0001t0001g0036 a0001c0001t0001g0092 a0001c0001t0001g0120 a0001c0001t0001g0181	4	266	0.0150	12	c.-17 others(21): Show c.-176_-175insACACACACACAC	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		163		chr17	TogoVar
CASC3_chr17_40135537_40177171	40140381	C C	CACACACA others(5): Show CACACACACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01123.hp1 HG02717.hp2 others(4): Show HG00621.hp1 HG01123.hp1 HG02717.hp2 NA18747.hp1 NA18969.hp2 NA19002.hp2 NA19062.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0001 a0001c0001t0001 a0003c0007t0001	a0001c0001t0001g0050 a0001c0001t0001g0074 a0001c0001t0001g0084 others(4): Show a0001c0001t0001g0050 a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0101 a0001c0001t0001g0192 a0001c0001t0001g0214 a0003c0007t0001g0071	7	266	0.0263	12	c.-16 others(21): Show c.-168_-167insACACACACCCCA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		155		chr17	TogoVar
CASC3_chr17_40135537_40177171	40169742	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	266	0.0038	12	c.41 others(27): Show c.41+100_*41+111dupTTTTTTTTTTTT	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CASD1_chr7_94504809_94562019	94553786	T T	TTAAATAA others(5): Show TTAAATAAACAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	398	0.0025	12	c.203 others(29): Show c.2035-689_2035-688insCAAATAAATAAA	CASD1	ENSG00000127995.17	transcript	ENST00000297273.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASD1_chr7_94504809_94562019	94553786	T T	TTAAATAA others(5): Show TTAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG01167.hp2 others(35): Show HG00558.hp2 HG00639.hp1 HG01167.hp2 HG01358.hp2 HG01433.hp2 HG01884.hp2 HG02055.hp2 HG02109.hp1 HG02602.hp1 HG02738.hp1 HG03139.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03669.hp2 HG03831.hp1 HG04204.hp1 NA18747.hp1 NA18948.hp1 NA18955.hp1 NA18968.hp1 NA18969.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA18999.hp1 NA19058.hp2 NA19070.hp1 NA19074.hp2 NA19086.hp2 NA19090.hp1 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 others(27): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0003t0001g0031 a0001c0003t0001g0169 a0001c0003t0001g0170	38	398	0.0955	12	c.203 others(29): Show c.2035-676_2035-665dupTAAATAAATAAA	CASD1	ENSG00000127995.17	transcript	ENST00000297273.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASD1_chr7_94504809_94562019	94559276	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG02818.hp1 others(2): Show HG01884.hp2 HG02486.hp2 HG02818.hp1 HG03453.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0114 a0001c0001t0002g0006 a0001c0001t0002g0176 others(2): Show a0001c0001t0001g0114 a0001c0001t0002g0006 a0001c0001t0002g0176 a0001c0001t0004g0039 a0001c0001t0004g0222	5	398	0.0126	12	c.35 others(23): Show c.3518_*3519insTGTGTGTGTGTG	CASD1	ENSG00000127995.17	transcript	ENST00000297273.9	protein_coding		2258		chr7	TogoVar
CASD1_chr7_94504809_94562019	94559304	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	398	0.0025	12	c.35 others(23): Show c.3546_*3547insTGTGTGTGTGTA	CASD1	ENSG00000127995.17	transcript	ENST00000297273.9	protein_coding		2286		chr7	TogoVar
CASD1_chr7_94504809_94562019	94559308	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00558.hp2 others(38): Show HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00673.hp2 HG01081.hp2 HG01192.hp2 HG01496.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02132.hp1 HG02155.hp1 HG02602.hp2 HG03688.hp1 HG04115.hp1 NA18747.hp2 NA18942.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18965.hp2 NA18975.hp2 NA18977.hp1 NA18984.hp1 NA18991.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19001.hp2 NA19011.hp1 NA19054.hp1 NA19058.hp2 NA19060.hp2 NA19079.hp2 NA19083.hp1 NA19086.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0007g0161 a0001c0001t0010g0054 a0002c0004t0001g0001 a0002c0004t0001g0098 a0002c0004t0001g0102	41	398	0.1030	12	c.35 others(23): Show c.3550_*3551insTGTGTGTGTGTA	CASD1	ENSG00000127995.17	transcript	ENST00000297273.9	protein_coding		2290		chr7	TogoVar
CASK_chrX_41509934_41928554	41537818	T T	TTTATTAT others(5): Show TTTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02717.hp1 HG00099.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0144 a0001c0001t0001g0032 a0001c0001t0001g0144	2	164	0.0122	12	c.215 others(31): Show c.2156-2857_2156-2846dupTAATAATAATAA	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	22/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41707432	C C	CCAGGTGT others(5): Show CCAGGTGTGACCA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0080 a0001c0001t0009g0080	1	164	0.0061	12	c.429 others(31): Show c.429+31951_429+31952insTGGTCACACCTG	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	5/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41710081	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01109.hp1 HG01934.hp1 others(5): Show HG01074.hp1 HG01109.hp1 HG01934.hp1 HG02056.hp1 HG03225.hp1 HG03710.hp1 NA18977.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0076 a0001c0001t0001g0096 a0001c0001t0001g0106 others(5): Show a0001c0001t0001g0076 a0001c0001t0001g0096 a0001c0001t0001g0106 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0021g0146	8	164	0.0488	12	c.429 others(31): Show c.429+29291_429+29302dupCACACACACACA	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	5/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41718535	G G	GTGTCCAC others(5): Show GTGTCCACTGAAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0150 a0001c0001t0015g0150	1	164	0.0061	12	c.429 others(31): Show c.429+20848_429+20849insATTCAGTGGACA	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	5/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41770257	C C	CATCTATC others(5): Show CATCTATCTATCT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	164	0.0061	12	c.278 others(31): Show c.278+16909_278+16920dupAGATAGATAGAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	3/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41770295	T T	TCTATCTA others(5): Show TCTATCTATCTAC	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0061	1	164	0.0061	12	c.278 others(31): Show c.278+16882_278+16883insGTAGATAGATAG	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	3/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41770313	T T	TACCTATC others(5): Show TACCTATCCATCC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01952.hp1 HG01261.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0119 a0001c0001t0001g0120	2	164	0.0122	12	c.278 others(31): Show c.278+16864_278+16865insGGATGGATAGGT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	3/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41829696	G G	GATATATA others(5): Show GATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01109.hp1 HG03130.hp1 others(2): Show HG01074.hp1 HG01109.hp1 HG03130.hp1 HG03688.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0109 a0001c0001t0001g0114 others(2): Show a0001c0001t0001g0062 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0162 a0001c0001t0001g0163	5	164	0.0305	12	c.172 others(31): Show c.172+23407_172+23418dupATATATATATAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41854224	G G	GCGCACAC others(5): Show GCGCACACACACA	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19077.hp1 HG02717.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0144 a0001c0001t0001g0135 a0001c0001t0001g0144	2	164	0.0122	12	c.60- others(25): Show c.60-998_60-997insTGTGTGTGTGCG	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26			chrX	TogoVar
CASP10_chr2_201178141_201226665	201192394	A A	AAATAATA others(5): Show AAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0188 a0002c0002t0002g0188	1	322	0.0031	12	c.442 others(27): Show c.442-570_442-559dupATAATAATAATA	CASP10	ENSG00000003400.16	transcript	ENST00000286186.11	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASP10_chr2_201178141_201226665	201215211	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA20752.hp2 HG01261.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0172 a0001c0003t0007g0173 a0001c0003t0007g0172 a0001c0003t0007g0173	2	322	0.0062	12	c.141 others(31): Show c.1416-2363_1416-2352dupTTTTTTTTTTTT	CASP10	ENSG00000003400.16	transcript	ENST00000286186.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASP1_chr11_105020508_105040144	105035618	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00544.hp1 others(74): Show HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00673.hp1 HG00741.hp2 HG01109.hp2 HG01123.hp1 HG01192.hp2 HG01346.hp1 HG01433.hp2 HG01884.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG02056.hp1 HG02083.hp2 HG02132.hp1 HG02148.hp2 HG02258.hp1 HG02300.hp1 HG02559.hp1 HG02735.hp2 HG02738.hp2 HG02965.hp1 HG03098.hp1 HG03471.hp1 HG03540.hp1 HG03654.hp2 HG04184.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18944.hp2 NA18946.hp1 NA18950.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18972.hp1 NA18977.hp1 NA18982.hp2 NA18989.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp2 NA19011.hp1 NA19054.hp1 NA19058.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19081.hp2 NA19083.hp1 NA19086.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0015 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0002g0002 a0001c0001t0002g0018 a0001c0001t0002g0028 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0012g0048 a0001c0001t0013g0049 a0001c0001t0014g0050	77	398	0.1935	12	c.-50 others(21): Show c.-506_-505insAAAAAAAAAAAA	CASP1	ENSG00000137752.25	transcript	ENST00000533400.6	protein_coding		475		chr11	TogoVar
CASP2_chr7_143283351_143312696	143291780	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19030.hp2 HG02717.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0070 a0001c0001t0001g0071	2	246	0.0081	12	c.225 others(26): Show c.225+99_225+110dupTTTTTTTTTTTT	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(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00735.hp1 HG01099.hp1 others(10): Show HG00609.hp1 HG00735.hp1 HG01099.hp1 HG02004.hp1 HG02135.hp2 HG02148.hp1 HG02273.hp1 HG04184.hp1 NA18954.hp1 NA18961.hp2 NA18974.hp2 NA18999.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0045 a0001c0001t0002g0172 others(3): Show a0001c0001t0002g0003 a0001c0001t0002g0045 a0001c0001t0002g0172 a0001c0001t0002g0184 a0001c0001t0002g0205 a0001c0001t0002g0209	13	366	0.0355	12	c.483 others(27): Show c.483+211_483+222dupTTTTTTTTTTTT	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding	6/7			chr4	TogoVar
CASP3_chr4_184622696_184654447	184631542	T T	TCAAAAAA others(5): Show TCAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0055 a0001c0001t0004g0055	1	366	0.0027	12	c.483 others(27): Show c.483+222_483+223insTTTTTTTTTTTG	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding	6/7			chr4	TogoVar
CASP4_chr11_104937866_104973574	104950797	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00423.hp1 others(38): Show HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02132.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02300.hp1 HG02647.hp1 HG02735.hp2 HG02818.hp2 HG03486.hp2 HG03491.hp1 HG03654.hp1 NA18906.hp1 NA18941.hp1 NA18946.hp2 NA18990.hp2 NA19059.hp2 NA19066.hp2 NA19085.hp1 NA20129.hp1 NA21309.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0005 a0004c0007 a0001c0001 a0003c0005 a0004c0007	a0001c0001t0001 a0003c0005t0001 a0004c0007t0001 a0001c0001t0001 a0003c0005t0001 a0004c0007t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 others(20): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0043 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0110 a0001c0001t0001g0120 a0001c0001t0001g0144 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0196 a0003c0005t0001g0010 a0004c0007t0001g0107	41	358	0.1145	12	c.546 others(27): Show c.546+116_546+127dupGTGTGTGTGTGT	CASP4	ENSG00000196954.14	transcript	ENST00000444739.7	protein_coding	4/8			chr11	TogoVar
CASP5_chr11_104989243_105028168	105009720	C C	CACACACA others(5): Show CACACACACATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0057 a0003c0003t0001g0057	1	396	0.0025	12	c.8-7 others(23): Show c.8-741_8-740insATATGTGTGTGT	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	1/9			chr11	TogoVar
CASP5_chr11_104989243_105028168	105009720	C C	CACACACA others(5): Show CACACACATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0054 a0003c0003t0001g0054	1	396	0.0025	12	c.8-7 others(23): Show c.8-741_8-740insATATATGTGTGT	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	1/9			chr11	TogoVar
CASP5_chr11_104989243_105028168	105009734	T T	TATATATA others(5): Show TATATATATACAC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02257.hp1 HG02976.hp2 HG02083.hp1 HG02257.hp1 HG02976.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0003c0005 a0004c0004 a0003c0003 a0003c0005 a0004c0004	a0003c0003t0001 a0003c0005t0001 a0004c0004t0001 a0003c0003t0001 a0003c0005t0001 a0004c0004t0001	a0003c0003t0001g0144 a0003c0005t0001g0143 a0004c0004t0001g0102 a0003c0003t0001g0144 a0003c0005t0001g0143 a0004c0004t0001g0102	3	396	0.0076	12	c.8-7 others(23): Show c.8-755_8-754insGTGTATATATAT	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	1/9			chr11	TogoVar
CASP6_chr4_109683628_109708445	109706129	T T	TTATATAT others(5): Show TTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG06807.hp2 NA20129.hp1 HG03453.hp2 HG06807.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0003 a0001c0001t0003 a0002c0003t0003	a0001c0001t0003g0022 a0001c0001t0003g0116 a0002c0003t0003g0010 a0001c0001t0003g0022 a0001c0001t0003g0116 a0002c0003t0003g0010	3	416	0.0072	12	c.-27 others(23): Show c.-2735_-2734insTATATATATATA	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2685		chr4	TogoVar
CASP6_chr4_109683628_109708445	109706131	T T	TTATATAT others(5): Show TTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01346.hp2 HG01943.hp1 others(16): Show HG00558.hp1 HG01346.hp2 HG01943.hp1 HG01993.hp1 HG02040.hp1 HG03195.hp1 HG03669.hp2 HG03927.hp2 NA18747.hp1 NA18944.hp1 NA18954.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18975.hp1 NA18990.hp2 NA18998.hp2 NA19009.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0166 a0001c0001t0001g0175 a0001c0001t0002g0001 others(7): Show a0001c0001t0001g0166 a0001c0001t0001g0175 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0005g0193	19	416	0.0457	12	c.-27 others(23): Show c.-2737_-2736insTATATATATATA	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2687		chr4	TogoVar
CASP6_chr4_109683628_109708445	109706168	T T	TATATACA others(5): Show TATATACACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	416	0.0024	12	c.-27 others(23): Show c.-2774_-2773insGTATGTGTATAT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2724		chr4	TogoVar
CASP6_chr4_109683628_109708445	109706168	T T	TATATATA others(5): Show TATATATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0191 a0001c0001t0003g0191	1	416	0.0024	12	c.-27 others(23): Show c.-2774_-2773insGTATGTATATAT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2724		chr4	TogoVar
CASP6_chr4_109683628_109708445	109706170	T T	TATATATA others(5): Show TATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	416	0.0024	12	c.-27 others(23): Show c.-2776_-2775insGTATATATATAT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2726		chr4	TogoVar
CASP7_chr10_113674912_113735905	113678603	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	406	0.0025	12	c.-13 others(23): Show c.-1376_-1375insGTGTGTGTGTGT	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding		1308		chr10	TogoVar
CASP7_chr10_113674912_113735905	113678968	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0153 a0001c0001t0004g0153	1	406	0.0025	12	c.-10 others(23): Show c.-1011_-1010insGTGTGTGTGTGT	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding		943		chr10	TogoVar
CASP7_chr10_113674912_113735905	113682456	T T	TTCTCTCT others(5): Show TTCTCTCTGCCTG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0148 a0003c0003t0002g0148	1	406	0.0025	12	c.-1+ others(27): Show c.-1+2479_-1+2490dupTCTCTCTGCCTG	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
CASP7_chr10_113674912_113735905	113687794	C C	CTCTTTCT others(5): Show CTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG01070.hp2 others(30): Show HG00280.hp2 HG00544.hp1 HG01070.hp2 HG01071.hp1 HG01358.hp2 HG02040.hp1 HG02129.hp2 HG02572.hp1 HG02630.hp2 HG02809.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03130.hp2 HG03471.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp1 NA18612.hp2 NA18945.hp1 NA18957.hp2 NA18970.hp2 NA18974.hp1 NA18978.hp1 NA18979.hp1 NA18983.hp2 NA18985.hp2 NA18993.hp2 NA19056.hp2 NA19057.hp1 NA19072.hp1 NA19091.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0002c0002t0001 a0003c0003t0002	a0001c0001t0002g0234 a0001c0001t0002g0307 a0001c0001t0002g0308 others(28): Show a0001c0001t0002g0234 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0362 a0001c0001t0003g0009 a0001c0001t0003g0169 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0270 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0083 a0001c0001t0004g0096 a0001c0001t0004g0157 a0001c0001t0005g0384 a0001c0001t0009g0387 a0001c0001t0011g0092 a0002c0002t0001g0013 a0002c0002t0001g0275 a0002c0002t0001g0310 a0002c0002t0001g0361 a0003c0003t0002g0117 a0003c0003t0002g0118 a0003c0003t0002g0119 a0003c0003t0002g0120	33	406	0.0813	12	c.-1+ others(27): Show c.-1+7847_-1+7858dupTTTCTTTCTTTC	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
CASP7_chr10_113674912_113735905	113687846	T T	TTTTCTTT others(5): Show TTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18943.hp2 NA18960.hp1 others(1): Show HG02135.hp1 NA18943.hp2 NA18960.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0060 a0001c0001t0004g0066 a0001c0001t0005g0052 others(1): Show a0001c0001t0004g0060 a0001c0001t0004g0066 a0001c0001t0005g0052 a0001c0001t0005g0053	4	406	0.0099	12	c.-1+ others(27): Show c.-1+7901_-1+7912dupTTTCTTTCTTTC	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(5): Show TTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03471.hp1 homoSapiens_chm13v2.hp1 HG03471.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0155 a0001c0001t0005g0384 a0001c0001t0004g0155 a0001c0001t0005g0384	2	406	0.0049	12	c.-1+ others(27): Show c.-1+7977_-1+7988dupCCTTCCTTCCTT	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
CASP9_chr1_15486401_15529215	15490220	A A	ATATCTAT others(5): Show ATATCTATCTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	350	0.0029	12	c.27 others(23): Show c.2711_*2722dupGATAGATAGATA	CASP9	ENSG00000132906.18	transcript	ENST00000333868.10	protein_coding		1180		chr1	TogoVar
CASP9_chr1_15486401_15529215	15526207	T T	TTTTTTTG others(5): Show TTTTTTTGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0049 a0002c0001t0001g0049	1	350	0.0029	12	c.-20 others(23): Show c.-2008_-2007insTCTCTCAAAAAA	CASP9	ENSG00000132906.18	transcript	ENST00000333868.10	protein_coding		1993		chr1	TogoVar
CASQ1_chr1_160185575_160206886	160186086	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG02129.hp2 HG02145.hp1 others(9): Show HG01258.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02559.hp1 HG03834.hp2 NA18943.hp1 NA18981.hp2 NA18995.hp1 NA19058.hp2 NA19063.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0046 a0001c0001t0001g0084 a0001c0001t0001g0102 a0001c0001t0001g0130 a0001c0001t0002g0008	12	440	0.0273	12	c.-46 others(23): Show c.-4666_-4665insAAAAAAAAAAAA	CASQ1	ENSG00000143318.13	transcript	ENST00000368078.8	protein_coding		4488		chr1	TogoVar
CASQ2_chr1_115695021_115773714	115723274	C C	CTATCATC others(5): Show CTATCATCTATCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00558.hp1 others(79): Show HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00639.hp2 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG02015.hp1 HG02055.hp2 HG02109.hp1 HG02148.hp1 HG02280.hp2 HG02300.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02895.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18952.hp2 NA18962.hp1 NA18970.hp2 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA19001.hp1 NA19005.hp2 NA19006.hp2 NA19043.hp1 NA19054.hp1 NA19057.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp1 NA19077.hp2 NA19078.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0003c0005	a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 others(7): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 a0002c0004t0002 a0002c0004t0005 a0003c0005t0001	a0001c0001t0002g0051 a0001c0001t0002g0060 a0001c0002t0001g0043 others(79): Show a0001c0001t0002g0051 a0001c0001t0002g0060 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0055 a0001c0002t0001g0066 a0001c0002t0001g0077 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0003g0056 a0001c0002t0006g0040 a0001c0002t0006g0229 a0002c0003t0001g0270 a0002c0003t0001g0271 a0002c0003t0001g0281 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0300 a0002c0003t0001g0304 a0002c0003t0001g0305 a0002c0003t0001g0311 a0002c0003t0001g0313 a0002c0003t0001g0317 a0002c0003t0001g0323 a0002c0003t0001g0326 a0002c0003t0001g0328 a0002c0003t0001g0329 a0002c0003t0001g0333 a0002c0003t0001g0340 a0002c0003t0001g0355 a0002c0003t0001g0356 a0002c0003t0001g0357 a0002c0003t0003g0277 a0002c0003t0006g0320 a0002c0003t0006g0321 a0002c0003t0006g0331 a0002c0003t0006g0351 a0002c0003t0006g0359 a0002c0003t0006g0360 a0002c0004t0002g0255 a0002c0004t0002g0259 a0002c0004t0002g0274 a0002c0004t0002g0278 a0002c0004t0002g0279 a0002c0004t0002g0280 a0002c0004t0005g0324 a0003c0005t0001g0234 a0003c0005t0001g0235 a0003c0005t0001g0236 a0003c0005t0001g0237 a0003c0005t0001g0238 a0003c0005t0001g0239 a0003c0005t0001g0240 a0003c0005t0001g0241 a0003c0005t0001g0242 a0003c0005t0001g0243 a0003c0005t0001g0245 a0003c0005t0001g0246 a0003c0005t0001g0247 a0003c0005t0001g0248 a0003c0005t0001g0249 a0003c0005t0001g0250 a0003c0005t0001g0251 a0003c0005t0001g0252 a0003c0005t0001g0253 a0003c0005t0001g0254	82	364	0.2253	12	c.783 others(29): Show c.783+2233_783+2234insAGATAGATGATA	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	7/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115723274	C C	CTATCTAT others(5): Show CTATCTATCATCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0310 a0002c0003t0001g0310	1	364	0.0028	12	c.783 others(29): Show c.783+2233_783+2234insAGATGATAGATA	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	7/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115723293	A A	ATATCTAT others(5): Show ATATCTATTTATC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0028 a0001c0002t0012g0028	1	364	0.0028	12	c.783 others(29): Show c.783+2214_783+2215insGATAAATAGATA	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	7/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115723305	T T	TTATCTAT others(5): Show TTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00673.hp2 others(75): Show HG00438.hp2 HG00597.hp2 HG00673.hp2 HG01070.hp1 HG01074.hp1 HG01106.hp1 HG01175.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp1 HG01993.hp1 HG02135.hp1 HG02145.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02970.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03710.hp1 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18946.hp1 NA18948.hp1 NA18951.hp1 NA18955.hp1 NA18961.hp2 NA18962.hp1 NA18970.hp2 NA18980.hp1 NA18988.hp1 NA18995.hp1 NA19001.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19077.hp1 NA19077.hp2 NA19084.hp1 NA19085.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0003c0005 a0004c0008 a0006c0011	a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 others(13): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 a0001c0002t0001 a0002c0003t0001 a0002c0003t0006 a0002c0003t0010 a0002c0004t0002 a0002c0004t0004 a0002c0004t0015 a0002c0004t0018 a0003c0005t0001 a0004c0008t0001 a0004c0008t0003 a0006c0011t0001	a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 others(75): Show a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0127 a0001c0001t0004g0159 a0001c0001t0014g0030 a0001c0001t0014g0031 a0001c0001t0015g0054 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0055 a0001c0002t0001g0066 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0166 a0001c0002t0001g0167 a0002c0003t0001g0270 a0002c0003t0001g0271 a0002c0003t0001g0283 a0002c0003t0001g0305 a0002c0003t0001g0310 a0002c0003t0001g0311 a0002c0003t0001g0313 a0002c0003t0001g0316 a0002c0003t0001g0326 a0002c0003t0001g0328 a0002c0003t0001g0347 a0002c0003t0001g0348 a0002c0003t0001g0355 a0002c0003t0006g0331 a0002c0003t0010g0006 a0002c0003t0010g0007 a0002c0003t0010g0008 a0002c0004t0002g0279 a0002c0004t0002g0280 a0002c0004t0002g0325 a0002c0004t0004g0332 a0002c0004t0015g0330 a0002c0004t0018g0016 a0003c0005t0001g0234 a0003c0005t0001g0235 a0003c0005t0001g0236 a0003c0005t0001g0238 a0003c0005t0001g0239 a0003c0005t0001g0240 a0003c0005t0001g0243 a0003c0005t0001g0245 a0003c0005t0001g0248 a0004c0008t0001g0314 a0004c0008t0001g0315 a0004c0008t0003g0358 a0006c0011t0001g0139	78	364	0.2143	12	c.783 others(29): Show c.783+2191_783+2202dupGATAGATAGATA	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	7/10			chr1	TogoVar

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