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
COTL1_chr16_84560596_84623078	84616504	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03540.hp2 NA20129.hp1 HG02630.hp2 HG03540.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0001 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0244 a0001c0001t0005g0245 a0001c0001t0009g0012 a0001c0001t0001g0244 a0001c0001t0005g0245 a0001c0001t0009g0012	3	440	0.0068	24	c.160 others(39): Show c.160+973_160+996dupATTTATTTATTTATTTATTTATTT	COTL1	ENSG00000103187.8	transcript	ENST00000262428.5	protein_coding	2/3			chr16	TogoVar
COX10_chr17_14064504_14213677	14163236	A A	AATTTATT others(17): Show AATTTATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0006 a0003c0009t0006	a0003c0009t0006g0090 a0003c0009t0006g0090	1	322	0.0031	24	c.695 others(41): Show c.695+3303_695+3326dupTTTATTTATTTATTTATTTATTTA	COX10	ENSG00000006695.12	transcript	ENST00000261643.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
COX16_chr14_70320081_70364683	70354841	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0271 a0001c0001t0003g0271	1	376	0.0027	24	c.69+ others(39): Show c.69+4677_69+4678insACACACACACACACACACACACAC	COX16	ENSG00000133983.16	transcript	ENST00000389912.7	protein_coding	1/3			chr14	TogoVar
COX16_chr14_70320081_70364683	70358315	A A	ATATACTA others(17): Show ATATACTAATATACAAATATATTAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	376	0.0027	24	c.69+ others(39): Show c.69+1203_69+1204insCTAATATATTTGTATATTAGTATA	COX16	ENSG00000133983.16	transcript	ENST00000389912.7	protein_coding	1/3			chr14	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	384	0.0026	24	c.434 others(39): Show c.434+164_434+165insATATATATATATATATATATTTTT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX4I2_chr20_31632912_31650006	31633906	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	300	0.0033	24	c.-40 others(35): Show c.-4057_-4056insAAAAAAAAAAAAAAAAAAAAAAAA	COX4I2	ENSG00000131055.5	transcript	ENST00000376075.4	protein_coding		4005		chr20	TogoVar
COX4I2_chr20_31632912_31650006	31634652	A A	ATTTATTT others(17): Show ATTTATTTATTTATTTATTTATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG02451.hp2 HG02572.hp1 others(3): Show HG01261.hp1 HG02451.hp2 HG02572.hp1 HG03453.hp2 HG03486.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0042 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0042 a0001c0001t0001g0102 a0001c0001t0001g0118	6	300	0.0200	24	c.-33 others(35): Show c.-3311_-3310insTTTATTTATTTATTTATTTATTTT	COX4I2	ENSG00000131055.5	transcript	ENST00000376075.4	protein_coding		3259		chr20	TogoVar
COX7A2L_chr2_42344338_42366217	42364250	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01433.hp2 HG01496.hp2 others(2): Show HG00323.hp2 HG01433.hp2 HG01496.hp2 HG01934.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0024 a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0024	5	406	0.0123	24	c.-30 others(35): Show c.-3090_-3089insTTTTTTTTTTTTTTTTTTTTTTTT	COX7A2L	ENSG00000115944.15	transcript	ENST00000234301.3	protein_coding		3034		chr2	TogoVar
COX7A2_chr6_75232787_75248801	75248081	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	382	0.0026	24	c.-43 others(35): Show c.-4371_-4348dupAAAAAAAAAAAAAAAAAAAAAAAA	COX7A2	ENSG00000112695.13	transcript	ENST00000684430.2	protein_coding		4281		chr6	TogoVar
COX7B2_chr4_46729827_46914245	46747298	T T	TTTTATTT others(17): Show TTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03209.hp1 NA18982.hp2 others(2): Show HG01261.hp2 HG03209.hp1 NA18982.hp2 NA19001.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0282 a0001c0001t0003g0225 a0001c0001t0003g0244 others(2): Show a0001c0001t0001g0282 a0001c0001t0003g0225 a0001c0001t0003g0244 a0001c0001t0003g0248 a0001c0001t0003g0278	5	300	0.0167	24	c.-49 others(43): Show c.-49-12058_-49-12057insTAAAATAAAATAAAATAAAATAAA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754718	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA18955.hp2 HG00280.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0157 a0001c0001t0003g0264 a0001c0001t0001g0157 a0001c0001t0003g0264	2	300	0.0067	24	c.-49 others(43): Show c.-49-19478_-49-19477insTATATATATATATATATATATATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754726	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG03209.hp2 HG02148.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0206 a0001c0001t0001g0094 a0001c0001t0001g0206	2	300	0.0067	24	c.-49 others(43): Show c.-49-19486_-49-19485insTATATATATATATATATATATATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754726	G G	GTATATAT others(17): Show GTATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18941.hp1 HG02818.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0090 a0001c0001t0001g0093	2	300	0.0067	24	c.-49 others(43): Show c.-49-19486_-49-19485insTACATATATATATATATATATATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754728	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02083.hp1 HG02922.hp1 others(8): Show HG01516.hp1 HG02083.hp1 HG02922.hp1 HG02965.hp1 HG03139.hp2 HG03486.hp1 HG03491.hp2 NA18957.hp1 NA18977.hp2 NA19009.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0202 others(7): Show a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0002g0010 a0001c0001t0002g0016 a0001c0001t0002g0037 a0001c0001t0003g0003 a0001c0001t0003g0111 a0001c0001t0004g0027	11	300	0.0367	24	c.-49 others(43): Show c.-49-19488_-49-19487insTATATATATATATATATATATATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754728	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18950.hp1 NA18961.hp1 others(1): Show HG03195.hp1 NA18950.hp1 NA18961.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0120 a0001c0001t0001g0183 others(1): Show a0001c0001t0001g0102 a0001c0001t0001g0120 a0001c0001t0001g0183 a0001c0001t0001g0195	4	300	0.0133	24	c.-49 others(43): Show c.-49-19488_-49-19487insTATATATATATATATATATATACA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754728	G G	GTGTGTAT others(17): Show GTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02015.hp2 HG02293.hp1 others(2): Show HG01952.hp1 HG02015.hp2 HG02293.hp1 NA18965.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0190 a0001c0001t0001g0193 others(2): Show a0001c0001t0001g0171 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0236	5	300	0.0167	24	c.-49 others(43): Show c.-49-19488_-49-19487insTATATATATATATATATATACACA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46907848	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	300	0.0033	24	c.-10 others(43): Show c.-105+1288_-105+1311dupAAAAAAAAAAAAAAAAAAAAAAAA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	1/2			chr4	TogoVar
CPA2_chr7_130261863_130294798	130267773	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA19002.hp1 NA18953.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	2	400	0.0050	24	c.71+ others(37): Show c.71+824_71+825insCTCTCTCTTTCTTTCTTTCTTTCT	CPA2	ENSG00000158516.12	transcript	ENST00000222481.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPA2_chr7_130261863_130294798	130267773	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02132.hp2 HG03139.hp2 others(8): Show HG00438.hp2 HG02132.hp2 HG03139.hp2 NA18522.hp2 NA18948.hp1 NA18983.hp1 NA18993.hp2 NA19006.hp1 NA19010.hp1 NA19066.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0014 a0001c0001t0001g0230 a0001c0001t0001g0232 others(5): Show a0001c0001t0001g0014 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0002t0001g0073 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0231	11	400	0.0275	24	c.71+ others(37): Show c.71+860_71+883dupTTTCTTTCTTTCTTTCTTTCTTTC	CPA2	ENSG00000158516.12	transcript	ENST00000222481.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPA2_chr7_130261863_130294798	130267773	C C	CTTTCTCT others(17): Show CTTTCTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp2 HG02155.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0242 a0001c0001t0001g0243	2	400	0.0050	24	c.71+ others(37): Show c.71+822_71+823insTTCTCTTTCTTTCTTTCTTTCTTT	CPA2	ENSG00000158516.12	transcript	ENST00000222481.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPA6_chr8_67417038_67751360	67543774	C C	CTATTATT others(17): Show CTATTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	144	0.0069	24	c.193 others(43): Show c.193-25728_193-25727insATAATAATAATAATAATAATAATA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67607169	C C	CTCTTCTT others(17): Show CTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0047 a0003c0003t0001g0047	1	144	0.0069	24	c.192 others(43): Show c.192+16983_192+17006dupAGAAGAAGAAGAAGAAGAAGAAGA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67630110	A A	AAATAATA others(17): Show AAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA19077.hp2 HG03516.hp1 NA19077.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0030 a0004c0005t0001g0060 a0001c0001t0001g0030 a0004c0005t0001g0060	2	144	0.0139	24	c.117 others(41): Show c.117-5883_117-5860dupATTATTATTATTATTATTATTATT	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67716151	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02965.hp2 HG02922.hp2 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0022 a0002c0002t0001g0021 a0001c0001t0001g0022 a0002c0002t0001g0021	2	144	0.0139	24	c.116 others(43): Show c.116+29839_116+29862dupTTTTTTTTTTTTTTTTTTTTTTTT	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPAMD8_chr19_16887951_17031810	16937063	G G	GCCTTCCT others(17): Show GCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03098.hp2 HG03471.hp1 others(1): Show HG02922.hp2 HG03098.hp2 HG03471.hp1 NA19043.hp1	a0010 a0029 a0045 others(1): Show a0010 a0029 a0045 a0122	a0010c0004 a0029c0067 a0045c0118 others(1): Show a0010c0004 a0029c0067 a0045c0118 a0122c0162	a0010c0004t0001 a0029c0067t0001 a0045c0118t0001 others(1): Show a0010c0004t0001 a0029c0067t0001 a0045c0118t0001 a0122c0162t0001	a0010c0004t0001g0068 a0029c0067t0001g0004 a0045c0118t0001g0024 others(1): Show a0010c0004t0001g0068 a0029c0067t0001g0004 a0045c0118t0001g0024 a0122c0162t0001g0019	4	278	0.0144	24	c.284 others(43): Show c.2845+1308_2845+1331dupAAGGAAGGAAGGAAGGAAGGAAGG	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	23/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16987179	A A	AAAATATA others(17): Show AAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0041 a0041	a0041c0023 a0041c0023	a0041c0023t0002 a0041c0023t0002	a0041c0023t0002g0157 a0041c0023t0002g0157	1	278	0.0036	24	c.139 others(43): Show c.1395+2463_1395+2464insATATATATATATATATATATATTT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	13/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16987190	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0040 a0040	a0040c0074 a0040c0074	a0040c0074t0002 a0040c0074t0002	a0040c0074t0002g0212 a0040c0074t0002g0212	1	278	0.0036	24	c.139 others(43): Show c.1395+2452_1395+2453insCATATATATATATATATATATATA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	13/41			chr19	TogoVar
CPB1_chr3_148822811_148865187	148846797	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18993.hp1 HG02074.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0226 a0001c0001t0001g0066 a0001c0001t0001g0226	2	456	0.0044	24	c.981 others(41): Show c.981+1172_981+1173insGTGTGTGTGTGTGTATATATATAT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPB1_chr3_148822811_148865187	148849012	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19001.hp1 NA19004.hp2 NA18999.hp2 NA19001.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0341 a0001c0001t0001g0343 a0001c0001t0001g0064 a0001c0001t0001g0341 a0001c0001t0001g0343	3	456	0.0066	24	c.981 others(41): Show c.981+3387_981+3410dupTTTTTTTTTTTTTTTTTTTTTTTT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPB2_chr13_46048186_46110033	46108157	T T	TTATACAT others(17): Show TTATACATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0049 a0003c0003t0003g0049	1	330	0.0030	24	c.-31 others(35): Show c.-3149_-3148insTATATATATATATATATATGTATA	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding		3125		chr13	TogoVar
CPB2_chr13_46048186_46110033	46108157	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01257.hp1 HG01515.hp1 others(10): Show HG01256.hp1 HG01257.hp1 HG01515.hp1 HG02148.hp1 HG02257.hp2 HG02559.hp1 HG02818.hp2 HG03490.hp2 NA18950.hp1 NA18995.hp2 NA19074.hp1 NA19086.hp2 NA19240.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0002c0002t0002 a0003c0003t0003 a0002c0002t0001 a0002c0002t0002 a0003c0003t0003	a0002c0002t0001g0019 a0002c0002t0001g0116 a0002c0002t0001g0117 others(10): Show a0002c0002t0001g0019 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0002g0002 a0002c0002t0002g0007 a0002c0002t0002g0017 a0002c0002t0002g0022 a0002c0002t0002g0106 a0002c0002t0002g0119 a0002c0002t0002g0134 a0002c0002t0002g0146 a0002c0002t0002g0147 a0003c0003t0003g0101	13	330	0.0394	24	c.-31 others(35): Show c.-3149_-3148insTATATATATATATATATATATATA	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding		3125		chr13	TogoVar
CPEB1_chr15_82538201_82652363	82542204	C C	CTTTATTT others(17): Show CTTTATTTATTTATTTATTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02965.hp1 HG03225.hp2 HG02895.hp2 HG02965.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0026 a0001c0001t0015 a0001c0001t0026	a0001c0001t0015g0191 a0001c0001t0015g0237 a0001c0001t0026g0085 a0001c0001t0015g0191 a0001c0001t0015g0237 a0001c0001t0026g0085	3	354	0.0085	24	c.23 others(35): Show c.2387_*2388insTAAATAAATAAATAAATAAATAAA	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding		996		chr15	TogoVar
CPED1_chr7_120983711_121302442	121117077	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	140	0.0071	24	c.919 others(41): Show c.919-7232_919-7231insTATATATATATATATATATATATA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121199689	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01978.hp2 HG01975.hp2 HG01978.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0004 a0001c0003t0003g0023 a0001c0003t0003g0004 a0001c0003t0003g0023	2	140	0.0143	24	c.205 others(45): Show c.2056-37022_2056-37021insGAAAGAAAGAAAGAAAGAAAGAAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121294806	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA19075.hp2 NA18979.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0004 a0001c0001t0004 a0001c0003t0004	a0001c0001t0004g0064 a0001c0003t0004g0066 a0001c0001t0004g0064 a0001c0003t0004g0066	2	140	0.0143	24	c.286 others(41): Show c.2869-618_2869-617insAAAAAAAAAAAAAAAAAAAAAAAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPE_chr4_165374008_165503547	165461186	A A	AAAAAAAA others(17): Show AAAAAAAAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00621.hp1 others(27): Show HG00408.hp1 HG00423.hp1 HG00621.hp1 HG01934.hp1 HG02015.hp1 HG02040.hp2 HG02132.hp1 HG02155.hp2 HG02523.hp1 HG02683.hp2 HG02976.hp1 HG03471.hp2 HG03492.hp1 HG03688.hp1 NA18522.hp1 NA18906.hp2 NA18948.hp2 NA18967.hp2 NA18971.hp2 NA18978.hp2 NA18983.hp2 NA18992.hp1 NA18992.hp2 NA19005.hp2 NA19009.hp2 NA19057.hp2 NA19060.hp2 NA19072.hp1 NA19080.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0052 others(27): Show a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0052 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0202 a0001c0001t0002g0011 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0049 a0001c0001t0002g0058 a0001c0001t0002g0075 a0001c0001t0002g0080 a0001c0001t0002g0206 a0001c0001t0002g0222 a0001c0001t0002g0246 a0001c0001t0002g0294 a0001c0001t0002g0298 a0001c0001t0002g0314 a0001c0001t0003g0050 a0001c0001t0003g0062 a0001c0001t0003g0205 a0001c0001t0003g0227 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0261 a0001c0001t0007g0315	30	332	0.0904	24	c.308 others(41): Show c.308-3203_308-3202insAAAAAAAAGAAAGAAAGAAAAAGA	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPLANE1_chr5_37101235_37254376	37154459	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	268	0.0037	24	c.812 others(41): Show c.8120-490_8120-467dupAAAAAAAAAAAAAAAAAAAAAAAA	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	41/52			chr5	TogoVar
CPLANE1_chr5_37101235_37254376	37187060	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0003 a0008c0007t0003	a0008c0007t0003g0047 a0008c0007t0003g0047	1	268	0.0037	24	c.408 others(41): Show c.4080+330_4080+353dupTTTTTTTTTTTTTTTTTTTTTTTT	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	23/52			chr5	TogoVar
CPLX1_chr4_779957_831129	826294	G G	GGGGGGCG others(17): Show GGGGGGCGGGGGGTGGACCCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0325 a0001c0001t0002g0325	1	416	0.0024	24	c.-32 others(33): Show c.-329_-328insGCCCCGGGTCCACCCCCCGCCCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		166		chr4	TogoVar
CPLX1_chr4_779957_831129	826399	C C	CGGGGCGG others(17): Show CGGGGCGGGGGCGGGGGTGGACCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01256.hp2 HG01981.hp1 others(2): Show HG01109.hp2 HG01256.hp2 HG01981.hp1 HG02293.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0310 a0001c0001t0002g0312 others(2): Show a0001c0001t0002g0017 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0315 a0001c0001t0002g0333	5	416	0.0120	24	c.-43 others(33): Show c.-434_-433insCGGGTCCACCCCCGCCCCCGCCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		271		chr4	TogoVar
CPLX1_chr4_779957_831129	826429	G G	GGGGGCGG others(17): Show GGGGGCGGGGGCGGGGGGTGGACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	416	0.0024	24	c.-46 others(33): Show c.-464_-463insGGGTCCACCCCCCGCCCCCGCCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		301		chr4	TogoVar
CPLX2_chr5_175866578_175889021	175871410	G G	GGAGAGAG others(17): Show GGAGAGAGAGAGAGAGAGAGACAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01257.hp1 HG03942.hp2 others(5): Show HG00609.hp1 HG01257.hp1 HG03942.hp2 NA18962.hp2 NA18990.hp2 NA18995.hp2 NA19002.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0002 a0001c0001t0002g0002 a0001c0001t0002g0013 others(3): Show a0001c0001t0001g0002 a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0002g0020 a0001c0001t0006g0002 a0001c0001t0006g0061	8	378	0.0212	24	c.-38 others(33): Show c.-384_-383insGAGAGAGAGAGAGAGAGAGACAGA	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		167		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871413	G G	GAGAGAGA others(17): Show GAGAGAGAGAGAGAGAGAGAGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0003 a0001c0001t0007g0003	1	378	0.0027	24	c.-38 others(33): Show c.-381_-380insAGAGAGAGAGAGAGAGAGAGAGAC	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		164		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871429	G G	GAGAGACA others(17): Show GAGAGACAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG03130.hp2 HG02055.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0006 a0001c0001t0008g0006	2	378	0.0053	24	c.-36 others(33): Show c.-365_-364insAGAGACAGAGAGAGAGAGAGAGAA	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		148		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871433	C C	CAGAGAGA others(17): Show CAGAGAGAGAGAGAGAGAAAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG03139.hp2 HG03225.hp1 others(1): Show HG01884.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0016 a0001c0001t0065 a0001c0001t0015 a0001c0001t0016 a0001c0001t0065	a0001c0001t0015g0018 a0001c0001t0016g0008 a0001c0001t0065g0045 a0001c0001t0015g0018 a0001c0001t0016g0008 a0001c0001t0065g0045	4	378	0.0106	24	c.-36 others(33): Show c.-361_-360insAGAGAGAGAGAGAGAGAAAGAGAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		144		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871433	C C	CAGAGAGA others(17): Show CAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG02055.hp1 HG01358.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0023 a0001c0001t0005 a0001c0001t0023	a0001c0001t0005g0024 a0001c0001t0023g0003 a0001c0001t0005g0024 a0001c0001t0023g0003	2	378	0.0053	24	c.-36 others(33): Show c.-361_-360insAGAGAGAGAGAGAGAGAGAGAGAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		144		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871433	C C	CAGAGAGA others(17): Show CAGAGAGATAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	378	0.0027	24	c.-36 others(33): Show c.-361_-360insAGAGAGATAGAGAGAGAGAGAGAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		144		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871454	A A	AGAGAGGG others(17): Show AGAGAGGGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0030 a0001c0001t0010g0030	1	378	0.0027	24	c.-34 others(33): Show c.-340_-339insGAGAGGGAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		123		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871456	A A	AGAGAGGG others(17): Show AGAGAGGGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01928.hp2 HG02300.hp2 others(5): Show HG01496.hp2 HG01928.hp2 HG02300.hp2 HG02738.hp2 HG04228.hp1 NA18950.hp1 NA19062.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0039 a0001c0001t0043 a0001c0001t0001 a0001c0001t0039 a0001c0001t0043	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0033 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0039g0082 a0001c0001t0043g0001	8	378	0.0212	24	c.-33 others(33): Show c.-338_-337insGAGAGGGAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		121		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871458	A A	AGAGAGAG others(17): Show AGAGAGAGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	378	0.0027	24	c.-33 others(33): Show c.-336_-335insGAGAGAGAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		119		chr5	TogoVar

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