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
CPNE8_chr12_38647203_38910591	38760435	G G	GTGTATAT others(9): Show GTGTATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	342	0.0029	16	c.722 others(31): Show c.722+411_722+412insTATATATATATATACA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38760451	A A	ATATATAT others(9): Show ATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG06807.hp2 NA18947.hp2 HG02809.hp2 HG06807.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0001 a0001c0001t0003 a0001c0001t0013	a0001c0001t0001g0130 a0001c0001t0003g0305 a0001c0001t0013g0298 a0001c0001t0001g0130 a0001c0001t0003g0305 a0001c0001t0013g0298	3	342	0.0088	16	c.722 others(31): Show c.722+395_722+396insCATATATATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38795867	G G	GGATAGAT others(9): Show GGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00735.hp2 others(73): Show HG00099.hp1 HG00639.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01891.hp1 HG01943.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02155.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03239.hp1 HG03486.hp2 HG03579.hp2 HG04184.hp1 HG04204.hp2 NA18612.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18960.hp2 NA18964.hp2 NA18970.hp1 NA18978.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18993.hp2 NA19002.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp2 NA19072.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0021 a0001c0001t0024 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0016 a0001c0002t0019 a0001c0002t0023 a0001c0003t0011	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 others(73): Show a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0001g0284 a0001c0001t0001g0290 a0001c0001t0001g0333 a0001c0001t0002g0073 a0001c0001t0003g0053 a0001c0001t0003g0058 a0001c0001t0003g0168 a0001c0001t0003g0173 a0001c0001t0003g0175 a0001c0001t0003g0179 a0001c0001t0003g0183 a0001c0001t0003g0190 a0001c0001t0003g0202 a0001c0001t0003g0209 a0001c0001t0003g0213 a0001c0001t0003g0245 a0001c0001t0003g0304 a0001c0001t0004g0046 a0001c0001t0004g0059 a0001c0001t0004g0155 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0255 a0001c0001t0004g0262 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0270 a0001c0001t0005g0342 a0001c0001t0006g0181 a0001c0001t0006g0186 a0001c0001t0006g0187 a0001c0001t0006g0194 a0001c0001t0006g0201 a0001c0001t0006g0302 a0001c0001t0007g0137 a0001c0001t0007g0336 a0001c0001t0013g0300 a0001c0001t0014g0203 a0001c0001t0015g0157 a0001c0001t0021g0022 a0001c0001t0024g0178 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0035 a0001c0002t0002g0043 a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0070 a0001c0002t0002g0076 a0001c0002t0002g0079 a0001c0002t0002g0221 a0001c0002t0002g0248 a0001c0002t0002g0263 a0001c0002t0004g0060 a0001c0002t0008g0216 a0001c0002t0016g0081 a0001c0002t0019g0048 a0001c0002t0023g0080 a0001c0003t0011g0001	76	342	0.2222	16	c.408 others(35): Show c.408-19582_408-19567dupTATCTATCTATCTATC	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	6/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38795867	G G	GGATGGAT others(9): Show GGATGGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	342	0.0029	16	c.408 others(35): Show c.408-19567_408-19566insTATCTATCTATCCATC	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	6/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38900156	T T	TACACCAT others(9): Show TACACCATCAGCACACC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03017.hp2 HG03239.hp1 HG02698.hp2 HG03017.hp2 HG03239.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0001 a0001c0003t0011g0002 a0001c0003t0011g0003 a0001c0003t0011g0001 a0001c0003t0011g0002 a0001c0003t0011g0003	3	342	0.0088	16	c.98+ others(31): Show c.98+5280_98+5281insGGTGTGCTGATGGTGT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902232	G G	GGAAAGAA others(9): Show GGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03195.hp1 NA18906.hp1 HG02965.hp1 HG03195.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009	a0001c0001t0004g0155 a0001c0001t0006g0101 a0001c0001t0009g0154 a0001c0001t0004g0155 a0001c0001t0006g0101 a0001c0001t0009g0154	3	342	0.0088	16	c.98+ others(31): Show c.98+3189_98+3204dupTTTCTTTCTTTCTTTC	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902417	A A	AAGAAAGA others(9): Show AAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA19068.hp2 HG02523.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0281 a0001c0001t0001g0282	2	342	0.0059	16	c.98+ others(31): Show c.98+3019_98+3020insCTCTTTCTTTCTTTCT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPO_chr2_206934518_206974474	206935784	C C	CCCATCCA others(9): Show CCCATCCATCCATCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02886.hp2 HG02976.hp1 others(4): Show HG02486.hp1 HG02886.hp2 HG02976.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp2 NA18906.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0004 a0002c0003 a0002c0012 others(2): Show a0001c0004 a0002c0003 a0002c0012 a0003c0006 a0008c0011	a0001c0004t0001 a0002c0003t0001 a0002c0012t0001 others(2): Show a0001c0004t0001 a0002c0003t0001 a0002c0012t0001 a0003c0006t0001 a0008c0011t0001	a0001c0004t0001g0156 a0001c0004t0001g0157 a0001c0004t0001g0158 others(4): Show a0001c0004t0001g0156 a0001c0004t0001g0157 a0001c0004t0001g0158 a0002c0003t0001g0099 a0002c0012t0001g0102 a0003c0006t0001g0054 a0008c0011t0001g0123	7	422	0.0166	16	c.-38 others(27): Show c.-3816_-3815insCCATCCATCCATCCAT	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding		3733		chr2	TogoVar
CPQ_chr8_96640242_97148501	96730866	C C	CATACATA others(9): Show CATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG03927.hp2 HG04184.hp1 others(1): Show HG01943.hp1 HG03927.hp2 HG04184.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0001g0057 others(1): Show a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0001g0078	4	126	0.0318	16	c.-34 others(35): Show c.-34-53995_-34-53994insCATATATATATATATA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96730866	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	126	0.0079	16	c.-34 others(35): Show c.-34-53987_-34-53972dupATATATATATATATAT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96737355	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00733.hp1 others(20): Show HG00099.hp1 HG00099.hp2 HG00733.hp1 HG01255.hp2 HG01516.hp2 HG01943.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02273.hp2 HG02723.hp1 HG02922.hp1 HG03927.hp2 NA18945.hp2 NA18964.hp1 NA18964.hp2 NA18989.hp1 NA19012.hp2 NA19084.hp1 NA19088.hp1 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0009 a0001c0001 a0001c0002 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0007c0009t0001	a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0031 others(20): Show a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0080 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0125 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0103 a0001c0001t0004g0083 a0001c0002t0001g0060 a0007c0009t0001g0062	23	126	0.1825	16	c.-34 others(35): Show c.-34-47495_-34-47494insATATATATATATATAT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96783260	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG03579.hp2 HG02004.hp2 HG03579.hp2	a0001 a0006 a0001 a0006	a0001c0007 a0006c0010 a0001c0007 a0006c0010	a0001c0007t0001 a0006c0010t0001 a0001c0007t0001 a0006c0010t0001	a0001c0007t0001g0038 a0006c0010t0001g0045 a0001c0007t0001g0038 a0006c0010t0001g0045	2	126	0.0159	16	c.-34 others(33): Show c.-34-1594_-34-1579dupTGTGTGTGTGTGTGTG	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96783282	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGCGTGC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0090 a0009c0012t0001g0090	1	126	0.0079	16	c.-34 others(33): Show c.-34-1579_-34-1578insTGTGTGTGCGTGCGTG	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96908747	G G	GCGCGCGC others(9): Show GCGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02257.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0005 a0001c0002t0002g0004 a0001c0002t0001g0005 a0001c0002t0002g0004	2	126	0.0159	16	c.849 others(35): Show c.849+28743_849+28744insGCGCGCACACACACAC	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPSF1_chr8_144388231_144414335	144392334	T T	TGGGGGTG others(9): Show TGGGGGTGCAAGGTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	350	0.0029	16	c.96 others(25): Show c.968_*983dupCTCACCTTGCACCCCC	CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding		896		chr8	TogoVar
CPSF2_chr14_92116969_92177145	92165854	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp1 HG01069.hp1 HG01071.hp1 others(12): Show HG00621.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG02080.hp2 HG02155.hp1 HG03688.hp2 NA18972.hp1 NA18977.hp2 NA18981.hp2 NA18986.hp2 NA19000.hp2 NA19010.hp1 NA19063.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0049 a0001c0001t0050 others(5): Show a0001c0001t0013 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0135 a0001c0001t0137 a0001c0001t0159 a0001c0001t0160	a0001c0001t0013g0040 a0001c0001t0013g0186 a0001c0001t0013g0188 others(11): Show a0001c0001t0013g0040 a0001c0001t0013g0186 a0001c0001t0013g0188 a0001c0001t0013g0212 a0001c0001t0013g0216 a0001c0001t0049g0079 a0001c0001t0049g0090 a0001c0001t0050g0027 a0001c0001t0050g0102 a0001c0001t0051g0014 a0001c0001t0135g0189 a0001c0001t0137g0204 a0001c0001t0159g0084 a0001c0001t0160g0067	15	388	0.0387	16	c.41 others(27): Show c.4120_*4135dupTTTTTTTTTTTTTTTT	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding	16/16	4136	INFO_REALIGN_3_PRIME	chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173330	T T	TATATATA others(9): Show TATATATATACACATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0198 a0001c0001t0016g0198	1	388	0.0026	16	c.11 others(29): Show c.11586_*11587insATATATATACACATAC	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1186		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173330	T T	TATATATA others(9): Show TATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	388	0.0026	16	c.11 others(29): Show c.11586_*11587insATATATATATACACAC	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1186		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173330	T T	TATATATA others(9): Show TATATATATATACATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0130 a0001c0001t0012g0130	1	388	0.0026	16	c.11 others(29): Show c.11586_*11587insATATATATATACATAC	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1186		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173330	T T	TATATATA others(9): Show TATATATATATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02683.hp2 HG03704.hp1 others(5): Show HG02015.hp1 HG02683.hp2 HG03704.hp1 HG04115.hp2 NA18959.hp2 NA18993.hp1 NA18995.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0079 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0079 a0001c0001t0080 a0001c0001t0083 a0001c0001t0089 a0001c0001t0092	a0001c0001t0001g0006 a0001c0001t0001g0164 a0001c0001t0009g0006 others(5): Show a0001c0001t0001g0006 a0001c0001t0001g0164 a0001c0001t0009g0006 a0001c0001t0079g0158 a0001c0001t0080g0174 a0001c0001t0083g0165 a0001c0001t0089g0017 a0001c0001t0092g0003	8	388	0.0206	16	c.11 others(29): Show c.11586_*11587insATATATATATATACAC	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1186		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173330	T T	TATATATA others(9): Show TATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02965.hp2 HG02055.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0086 a0001c0001t0025 a0001c0001t0086	a0001c0001t0025g0175 a0001c0001t0086g0037 a0001c0001t0025g0175 a0001c0001t0086g0037	2	388	0.0052	16	c.11 others(29): Show c.11586_*11587insATATATATATATATAC	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1186		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173370	T T	TATGTATA others(9): Show TATGTATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01884.hp1 HG02040.hp1 others(25): Show HG01099.hp1 HG01884.hp1 HG02040.hp1 HG02572.hp1 HG02683.hp2 HG02738.hp2 HG02976.hp1 HG03139.hp1 HG03239.hp2 HG03704.hp1 HG04115.hp2 NA18942.hp2 NA18951.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18968.hp2 NA18972.hp2 NA18977.hp1 NA18984.hp2 NA18986.hp1 NA18991.hp1 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA19010.hp2 NA19065.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(11): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0038 a0001c0001t0078 a0001c0001t0080 a0001c0001t0083 a0001c0001t0084 a0001c0001t0089 a0001c0001t0092 a0001c0001t0122	a0001c0001t0001g0006 a0001c0001t0001g0110 a0001c0001t0001g0141 others(22): Show a0001c0001t0001g0006 a0001c0001t0001g0110 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0008g0148 a0001c0001t0009g0006 a0001c0001t0009g0143 a0001c0001t0009g0145 a0001c0001t0022g0006 a0001c0001t0022g0038 a0001c0001t0023g0003 a0001c0001t0024g0017 a0001c0001t0024g0157 a0001c0001t0038g0142 a0001c0001t0078g0035 a0001c0001t0080g0174 a0001c0001t0083g0165 a0001c0001t0084g0172 a0001c0001t0089g0017 a0001c0001t0092g0003 a0001c0001t0122g0256	28	388	0.0722	16	c.11 others(29): Show c.11626_*11627insATGTATATATATATAC	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1226		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173370	T T	TGTGTATA others(9): Show TGTGTATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA18999.hp1 NA19011.hp2 others(1): Show NA18961.hp1 NA18999.hp1 NA19011.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0024 a0001c0001t0001 a0001c0001t0009 a0001c0001t0024	a0001c0001t0001g0005 a0001c0001t0001g0168 a0001c0001t0009g0149 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0168 a0001c0001t0009g0149 a0001c0001t0024g0005	4	388	0.0103	16	c.11 others(29): Show c.11626_*11627insGTGTATATATATATAC	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1226		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173381	A A	ATACGTAT others(9): Show ATACGTATATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG03098.hp1 HG02015.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0082 a0001c0001t0079 a0001c0001t0082	a0001c0001t0079g0158 a0001c0001t0082g0182 a0001c0001t0079g0158 a0001c0001t0082g0182	2	388	0.0052	16	c.11 others(29): Show c.11637_*11638insTACGTATATATATACG	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1237		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173381	A A	ATACGTAT others(9): Show ATACGTATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG03209.hp1 NA18906.hp2 HG02145.hp2 HG03209.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0121 a0001c0001t0042 a0001c0001t0121	a0001c0001t0042g0252 a0001c0001t0042g0257 a0001c0001t0121g0258 a0001c0001t0042g0252 a0001c0001t0042g0257 a0001c0001t0121g0258	3	388	0.0077	16	c.11 others(29): Show c.11637_*11638insTACGTATATATATATG	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1237		chr14	TogoVar
CPSF3_chr2_9418654_9478101	9459638	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	230	0.0044	16	c.178 others(31): Show c.1786+33_1786+48dupTTTTTTTTTTTTTTTT	CPSF3	ENSG00000119203.14	transcript	ENST00000238112.8	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPSF4_chr7_99433943_99462373	99440655	C C	CGCATATA others(9): Show CGCATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA18939.hp1 NA19002.hp2 HG01175.hp2 NA18939.hp1 NA19002.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0009 a0001c0003t0002 a0001c0003t0009	a0001c0003t0002g0107 a0001c0003t0002g0109 a0001c0003t0009g0108 a0001c0003t0002g0107 a0001c0003t0002g0109 a0001c0003t0009g0108	3	364	0.0082	16	c.103 others(33): Show c.103+1470_103+1471insGCATATATATATATAT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7			chr7	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(9): Show ATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0173	1	364	0.0028	16	c.103 others(33): Show c.103+1490_103+1491insATATATATTTTTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF6_chr12_69234569_69279358	69249152	C C	CGGTGGGG others(9): Show CGGTGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01175.hp1 HG01934.hp2 others(4): Show HG01099.hp1 HG01175.hp1 HG01934.hp2 HG02155.hp2 NA19002.hp1 NA19083.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0084 a0001c0002t0001 a0001c0002t0084	a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0055 others(2): Show a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0055 a0001c0002t0001g0139 a0001c0002t0084g0221	7	392	0.0179	16	c.61- others(31): Show c.61-1975_61-1974insTGGGGGGGGGGGGGGG	CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
CPSF7_chr11_61397729_61434975	61434591	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG03130.hp2 HG02922.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	2	190	0.0105	16	c.-47 others(27): Show c.-4749_-4734dupAAAAAAAAAAAAAAAA	CPSF7	ENSG00000149532.16	transcript	ENST00000439958.8	protein_coding		4617		chr11	TogoVar
CPT1A_chr11_68749883_68846916	68791963	G G	GTGCACAC others(9): Show GTGCACACTACTGACTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0019 a0001c0001t0030g0019	1	236	0.0042	16	c.967 others(33): Show c.967+1336_967+1351dupTAGTCAGTAGTGTGCA	CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	9/18			chr11	TogoVar
CPT1A_chr11_68749883_68846916	68838571	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp2 HG01192.hp1 others(8): Show HG00438.hp1 HG00741.hp2 HG01192.hp1 HG01243.hp2 HG01358.hp2 HG01952.hp1 HG02300.hp2 HG03669.hp2 HG06807.hp1 NA18975.hp1 NA19000.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0001c0002t0003 a0001c0004t0017 a0003c0005t0002	a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0003g0205 others(8): Show a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0003g0205 a0001c0001t0003g0209 a0001c0001t0004g0210 a0001c0001t0007g0203 a0001c0001t0007g0204 a0001c0002t0001g0212 a0001c0002t0003g0211 a0001c0004t0017g0213 a0003c0005t0002g0206	11	236	0.0466	16	c.-14 others(33): Show c.-14+3203_-14+3204insTTTTTTTTTTTTTTTT	CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	1/18			chr11	TogoVar
CPT1C_chr19_49686116_49718731	49703563	T T	TCCTCCCT others(9): Show TCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG01891.hp2 others(12): Show HG01109.hp1 HG01243.hp2 HG01891.hp2 HG02083.hp2 HG02155.hp2 HG02451.hp2 HG02615.hp2 HG02717.hp2 HG02896.hp2 HG02897.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp2 NA18960.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0141 others(11): Show a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0162 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0002g0020 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0003g0007 a0001c0001t0003g0087 a0001c0001t0003g0090 a0001c0001t0003g0116	15	350	0.0429	16	c.694 others(33): Show c.694-1127_694-1112dupCCCTCCCTCCCTCCCT	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPT1C_chr19_49686116_49718731	49703595	C C	CCCTCCCT others(9): Show CCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01175.hp1 HG01346.hp2 others(15): Show HG00609.hp2 HG01175.hp1 HG01346.hp2 HG01975.hp1 HG01981.hp2 HG02080.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02818.hp2 HG03486.hp2 HG03704.hp2 HG03710.hp2 NA18612.hp2 NA18962.hp1 NA19082.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0001t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0128 a0001c0001t0001g0129 others(14): Show a0001c0001t0001g0003 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0209 a0001c0006t0001g0003 a0001c0006t0001g0145	18	350	0.0514	16	c.694 others(33): Show c.694-1112_694-1111insCCCTCCCTCCCTTCCT	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPT1C_chr19_49686116_49718731	49712343	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG03710.hp2 others(1): Show HG00558.hp2 HG00609.hp2 HG03710.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0150 others(1): Show a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0150 a0001c0001t0001g0155	4	350	0.0114	16	c.201 others(33): Show c.2019+383_2020-377dupAAAAAAAAAAAAAAAA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPTP_chr1_1319802_1333896	1324181	A A	AGACTGGA others(9): Show AGACTGGAGGGCTGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	16	c.-99 others(25): Show c.-997_-996insGACTGGAGGGCTGTGG	CPTP	ENSG00000224051.7	transcript	ENST00000343938.9	protein_coding		620		chr1	TogoVar
CPVL_chr7_28990235_29151537	29003154	G G	GCACACAC others(9): Show GCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02071.hp1 HG01081.hp2 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0195 a0001c0001t0001g0090 a0001c0001t0001g0195	2	282	0.0071	16	c.132 others(35): Show c.1321-7288_1321-7273dupTGTGTGTGTGTGTGTG	CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	12/12			chr7	TogoVar
CPXM2_chr10_123740639_123896807	123830870	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0006 a0001c0031t0006	a0001c0031t0006g0193 a0001c0031t0006g0193	1	288	0.0035	16	c.653 others(35): Show c.653+11478_653+11479insCACACACACACACACA	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	4/13			chr10	TogoVar
CPXM2_chr10_123740639_123896807	123830872	C C	CTCTCTCT others(9): Show CTCTCTCTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0069 a0001c0001t0005g0069	1	288	0.0035	16	c.653 others(35): Show c.653+11476_653+11477insCACACACACAGAGAGA	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	4/13			chr10	TogoVar
CPXM2_chr10_123740639_123896807	123832826	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0028 a0001c0002t0002g0028	1	288	0.0035	16	c.653 others(33): Show c.653+9522_653+9523insTTTTTTTTTTTTTTTT	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	4/13			chr10	TogoVar
CPZ_chr4_8587765_8624752	8605322	T T	TCATCCAT others(9): Show TCATCCATCCATCCATC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(242): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18990.hp1 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0007 a0009 a0010 a0011 a0013 a0015 a0016 a0017 a0022 a0023 a0024	a0001c0001 a0001c0006 a0001c0007 others(27): Show a0001c0001 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0026 a0001c0040 a0001c0049 a0001c0051 a0001c0052 a0001c0053 a0002c0004 a0003c0003 a0003c0008 a0003c0031 a0003c0060 a0003c0061 a0004c0002 a0004c0018 a0007c0054 a0009c0019 a0010c0030 a0011c0028 a0013c0024 a0015c0023 a0016c0063 a0017c0062 a0022c0055 a0023c0038 a0024c0046	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0006t0002 a0001c0007t0003 a0001c0010t0002 a0001c0011t0003 a0001c0026t0002 a0001c0040t0001 a0001c0049t0002 a0001c0051t0001 a0001c0052t0002 a0001c0053t0002 a0002c0004t0001 a0003c0003t0003 a0003c0008t0002 a0003c0031t0001 a0003c0060t0005 a0003c0061t0003 a0004c0002t0002 a0004c0002t0004 a0004c0018t0004 a0007c0054t0002 a0009c0019t0001 a0010c0030t0001 a0011c0028t0001 a0013c0024t0001 a0015c0023t0002 a0016c0063t0003 a0017c0062t0002 a0022c0055t0001 a0023c0038t0001 a0024c0046t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(162): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0002g0072 a0001c0001t0002g0150 a0001c0006t0001g0168 a0001c0006t0002g0003 a0001c0006t0002g0066 a0001c0006t0002g0067 a0001c0006t0002g0174 a0001c0006t0002g0286 a0001c0006t0002g0306 a0001c0007t0003g0041 a0001c0007t0003g0198 a0001c0007t0003g0236 a0001c0010t0002g0192 a0001c0010t0002g0194 a0001c0010t0002g0195 a0001c0010t0002g0304 a0001c0011t0003g0036 a0001c0011t0003g0144 a0001c0011t0003g0279 a0001c0026t0002g0193 a0001c0026t0002g0196 a0001c0040t0001g0118 a0001c0049t0002g0182 a0001c0051t0001g0183 a0001c0052t0002g0003 a0001c0053t0002g0129 a0002c0004t0001g0264 a0002c0004t0001g0269 a0002c0004t0001g0271 a0003c0003t0003g0029 a0003c0003t0003g0030 a0003c0003t0003g0032 a0003c0003t0003g0077 a0003c0003t0003g0083 a0003c0003t0003g0084 a0003c0003t0003g0085 a0003c0003t0003g0086 a0003c0003t0003g0087 a0003c0003t0003g0088 a0003c0003t0003g0090 a0003c0003t0003g0096 a0003c0003t0003g0097 a0003c0003t0003g0098 a0003c0003t0003g0099 a0003c0003t0003g0100 a0003c0003t0003g0102 a0003c0008t0002g0028 a0003c0008t0002g0093 a0003c0008t0002g0094 a0003c0008t0002g0095 a0003c0008t0002g0101 a0003c0031t0001g0091 a0003c0031t0001g0092 a0003c0060t0005g0089 a0003c0061t0003g0029 a0004c0002t0002g0018 a0004c0002t0002g0051 a0004c0002t0002g0052 a0004c0002t0002g0110 a0004c0002t0002g0175 a0004c0002t0002g0177 a0004c0002t0002g0178 a0004c0002t0002g0179 a0004c0002t0002g0180 a0004c0002t0002g0181 a0004c0002t0002g0184 a0004c0002t0002g0231 a0004c0002t0002g0232 a0004c0002t0004g0208 a0004c0002t0004g0210 a0004c0002t0004g0211 a0004c0002t0004g0212 a0004c0002t0004g0214 a0004c0002t0004g0218 a0004c0018t0004g0213 a0007c0054t0002g0003 a0009c0019t0001g0005 a0010c0030t0001g0016 a0011c0028t0001g0048 a0013c0024t0001g0050 a0015c0023t0002g0156 a0016c0063t0003g0275 a0017c0062t0002g0276 a0022c0055t0001g0140 a0023c0038t0001g0163 a0024c0046t0001g0187	245	442	0.5543	16	c.710 others(31): Show c.710-655_710-640dupCCATCCATCCATCCAT	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPZ_chr4_8587765_8624752	8605322	T T	TCATCCAT others(9): Show TCATCCATCTATCCATC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18990.hp2 NA19077.hp2 others(1): Show NA18951.hp2 NA18990.hp2 NA19077.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0227 a0001c0001t0001g0020 a0001c0001t0001g0227	4	442	0.0091	16	c.710 others(31): Show c.710-659_710-658insTATCCATCCATCCATC	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPZ_chr4_8587765_8624752	8608644	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTATGCC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18959.hp1 NA18975.hp1 others(6): Show NA18947.hp1 NA18959.hp1 NA18975.hp1 NA18977.hp2 NA19000.hp2 NA19010.hp1 NA19072.hp2 NA19081.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0065 a0001c0001t0002g0280 others(3): Show a0001c0001t0002g0024 a0001c0001t0002g0065 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0292 a0001c0001t0002g0293	9	442	0.0204	16	c.122 others(35): Show c.1227+1223_1227+1224insTGTGTGTATGCCTGTG	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPZ_chr4_8587765_8624752	8609028	T T	TTCACTCA others(9): Show TTCACTCACCCATTCAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02559.hp1 others(22): Show HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp1 HG03540.hp1 HG03579.hp1 NA19043.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp2	a0002 a0004 a0007 others(1): Show a0002 a0004 a0007 a0019	a0002c0067 a0004c0002 a0004c0029 others(2): Show a0002c0067 a0004c0002 a0004c0029 a0007c0025 a0019c0068	a0002c0067t0001 a0004c0002t0002 a0004c0029t0002 others(2): Show a0002c0067t0001 a0004c0002t0002 a0004c0029t0002 a0007c0025t0002 a0019c0068t0002	a0002c0067t0001g0240 a0004c0002t0002g0018 a0004c0002t0002g0051 others(16): Show a0002c0067t0001g0240 a0004c0002t0002g0018 a0004c0002t0002g0051 a0004c0002t0002g0052 a0004c0002t0002g0053 a0004c0002t0002g0110 a0004c0002t0002g0175 a0004c0002t0002g0177 a0004c0002t0002g0178 a0004c0002t0002g0179 a0004c0002t0002g0180 a0004c0002t0002g0184 a0004c0002t0002g0191 a0004c0002t0002g0231 a0004c0002t0002g0232 a0004c0029t0002g0058 a0007c0025t0002g0225 a0007c0025t0002g0226 a0019c0068t0002g0246	25	442	0.0566	16	c.122 others(35): Show c.1227+1606_1227+1621dupACTCACCCATTCACTC	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPZ_chr4_8587765_8624752	8609193	C C	CACTCCCT others(9): Show CACTCCCTCATTCACTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0076 a0003c0003t0003g0076	1	442	0.0023	16	c.122 others(35): Show c.1227+1777_1227+1778insTTCACTTACTCCCTCA	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPZ_chr4_8587765_8624752	8622800	G G	GAAAAAAA others(9): Show GAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0002 a0002c0014t0002	a0002c0014t0002g0244 a0002c0014t0002g0244	1	442	0.0023	16	c.31 others(27): Show c.3183_*3184insAAAAAAAAAAAAAAAA	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding		3049		chr4	TogoVar
CP_chr3_149167497_149226829	149172318	T T	TCACACAC others(9): Show TCACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0294 a0002c0002t0001g0294	1	376	0.0027	16	c.13 others(27): Show c.1380_*1395dupTGTGTGTGTGTGTGTG	CP	ENSG00000047457.14	transcript	ENST00000264613.11	protein_coding		178		chr3	TogoVar
CP_chr3_149167497_149226829	149172318	T T	TCTCACAC others(9): Show TCTCACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0007 a0012c0017t0007	a0012c0017t0007g0306 a0012c0017t0007g0306	1	376	0.0027	16	c.13 others(27): Show c.1395_*1396insTGTGTGTGTGTGTGAG	CP	ENSG00000047457.14	transcript	ENST00000264613.11	protein_coding		178		chr3	TogoVar
CP_chr3_149167497_149226829	149175664	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02257.hp1 HG02630.hp1 others(4): Show HG01346.hp2 HG02257.hp1 HG02630.hp1 HG02683.hp2 HG03927.hp1 NA18962.hp1 NA19080.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0002 a0001c0003t0007 a0002c0002t0002 others(2): Show a0001c0001t0002 a0001c0003t0007 a0002c0002t0002 a0002c0002t0007 a0003c0004t0002	a0001c0001t0002g0157 a0001c0001t0002g0163 a0001c0001t0002g0256 others(4): Show a0001c0001t0002g0157 a0001c0001t0002g0163 a0001c0001t0002g0256 a0001c0003t0007g0092 a0002c0002t0002g0301 a0002c0002t0007g0318 a0003c0004t0002g0230	7	376	0.0186	16	c.318 others(33): Show c.3181+570_3181+585dupACACACACACACACAC	CP	ENSG00000047457.14	transcript	ENST00000264613.11	protein_coding	18/18			chr3	TogoVar
CR1L_chr1_207640133_207728703	207643914	G G	GTATATAT others(9): Show GTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0018 a0018	a0018c0021 a0018c0021	a0018c0021t0001 a0018c0021t0001	a0018c0021t0001g0266 a0018c0021t0001g0266	1	346	0.0029	16	c.-13 others(27): Show c.-1320_-1319insTATATATATATATATA	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding		1218		chr1	TogoVar

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