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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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
CRYBB2_chr22_25214639_25236869	25218779	G G	GAGAGAGA others(24): Show GAGAGAGAGAGAGAAAGAAAGAAAGAAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	464	0.0022	31	c.-91 others(40): Show c.-914_-913insAGAGAGAGAGAGAAAGAAAGAAAGAAAAAGA	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		859		chr22	TogoVar
CRYBG1_chr6_106355717_106577017	106361970	T T	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02717.hp1 HG02818.hp1 others(3): Show HG02486.hp2 HG02717.hp1 HG02818.hp1 HG03130.hp1 NA19240.hp2 NA20129.hp1	a0001 a0007 a0018 others(3): Show a0001 a0007 a0018 a0021 a0055 a0064	a0001c0022 a0007c0007 a0018c0037 others(3): Show a0001c0022 a0007c0007 a0018c0037 a0021c0026 a0055c0032 a0064c0076	a0001c0022t0002 a0007c0007t0003 a0018c0037t0001 others(3): Show a0001c0022t0002 a0007c0007t0003 a0018c0037t0001 a0021c0026t0001 a0055c0032t0002 a0064c0076t0003	a0001c0022t0002g0212 a0007c0007t0003g0210 a0018c0037t0001g0253 others(3): Show a0001c0022t0002g0212 a0007c0007t0003g0210 a0018c0037t0001g0253 a0021c0026t0001g0211 a0055c0032t0002g0252 a0064c0076t0003g0251	6	272	0.0221	31	c.173 others(46): Show c.173+891_173+892insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106377621	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0003 a0007c0007t0003	a0007c0007t0003g0266 a0007c0007t0003g0266	1	272	0.0037	31	c.173 others(50): Show c.173+16540_173+16541insATATATATATATATATATATATATAT ATATA	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21			chr6	TogoVar
CRYGN_chr7_151423832_151445141	151428290	C C	CTTCTTTT others(24): Show CTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 NA18964.hp2 NA18974.hp1 others(1): Show HG03471.hp1 NA18964.hp2 NA18974.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0002 a0001c0003t0001g0030 a0001c0002t0001g0002 a0001c0003t0001g0030	4	452	0.0089	31	c.17 others(42): Show c.1757_*1758insAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA	CRYGN	ENSG00000127377.10	transcript	ENST00000337323.3	protein_coding		541		chr7	TogoVar
CRYZL1_chr21_33584341_33646741	33605530	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp1 HG01071.hp2 others(16): Show HG00280.hp1 HG01070.hp1 HG01071.hp2 HG01192.hp1 HG01433.hp1 HG02074.hp2 HG03831.hp1 NA18964.hp2 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18995.hp1 NA19055.hp1 NA19059.hp2 NA19063.hp2 NA19080.hp1 NA19081.hp1 NA19085.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0021 others(14): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0323 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0001g0343 a0002c0003t0001g0305	19	360	0.0528	31	c.332 others(48): Show c.332-1994_332-1993insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	CRYZL1	ENSG00000205758.12	transcript	ENST00000381554.8	protein_coding	6/12			chr21	TogoVar
CSE1L_chr20_49041312_49101949	49047564	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0242 a0001c0002t0001g0242	1	386	0.0026	31	c.-12 others(48): Show c.-12+1169_-12+1170insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSE1L_chr20_49041312_49101949	49065311	A A	ATTTTTTT others(24): Show ATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	386	0.0026	31	c.229 others(46): Show c.229-881_229-880insTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT T	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	3/24			chr20	TogoVar
CSE1L_chr20_49041312_49101949	49065313	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	386	0.0026	31	c.229 others(46): Show c.229-852_229-851insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(24): Show TTTTTTTTTTTTTTTTTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0004 a0003c0007t0004	a0003c0007t0004g0142 a0003c0007t0004g0142	1	394	0.0025	31	c.-66 others(48): Show c.-66+3294_-66+3295insTTTTTTTTTTTTTTTGTGTGTGTGTGTG TGT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(24): Show TTTTTTTTTTTTTTTTTTTTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01192.hp2 HG00735.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0094 a0001c0001t0001g0095	2	394	0.0051	31	c.-66 others(48): Show c.-66+3294_-66+3295insTTTTTTTTTTTTTTTTTTTGTGTGTGTG TGT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(24): Show TTTTTTTTTTTTTTTTTTTTTTTTTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	394	0.0025	31	c.-66 others(48): Show c.-66+3294_-66+3295insTTTTTTTTTTTTTTTTTTTTTTTGTGTG TGT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSMD1_chr8_2930361_4999914	2985944	G G	GAAGGAGG others(24): Show GAAGGAGGGAAGGGAAGAGGGAGGGGAGGGAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03139.hp1 HG02280.hp2 HG03139.hp1	a0002 a0003 a0002 a0003	a0002c0074 a0003c0034 a0002c0074 a0003c0034	a0002c0074t0041 a0003c0034t0030 a0002c0074t0041 a0003c0034t0030	a0002c0074t0041g0031 a0003c0034t0030g0038 a0002c0074t0041g0031 a0003c0034t0030g0038	2	126	0.0159	31	c.837 others(50): Show c.8378-7145_8378-7144insTTCCCTCCCCTCCCTCTTCCCTTCCC TCCTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	54/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439309	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0023 a0023	a0023c0095 a0023c0095	a0023c0095t0002 a0023c0095t0002	a0023c0095t0002g0124 a0023c0095t0002g0124	1	126	0.0079	31	c.156 others(52): Show c.1561+29402_1561+29403insATATATATATATATATATATATAT ATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439309	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0057 a0003c0057	a0003c0057t0080 a0003c0057t0080	a0003c0057t0080g0075 a0003c0057t0080g0075	1	126	0.0079	31	c.156 others(52): Show c.1561+29402_1561+29403insAAAAAAATATATATATATATATAT ATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3795115	G G	GATATATA others(24): Show GATATATATCTATCATGTATAGCTATAGATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0031 a0001c0043t0031	a0001c0043t0031g0044 a0001c0043t0031g0044	1	126	0.0079	31	c.819 others(50): Show c.819-41074_819-41073insATATCTATAGCTATACATGATAGATA TATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3796379	T T	TATAGATA others(24): Show TATAGATATATATCTATCATGTATAGATATAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG06807.hp1 HG06807.hp2 HG02615.hp1 HG06807.hp1 HG06807.hp2	a0001 a0002 a0026 a0001 a0002 a0026	a0001c0068 a0002c0035 a0026c0082 a0001c0068 a0002c0035 a0026c0082	a0001c0068t0015 a0002c0035t0047 a0026c0082t0052 a0001c0068t0015 a0002c0035t0047 a0026c0082t0052	a0001c0068t0015g0049 a0002c0035t0047g0076 a0026c0082t0052g0097 a0001c0068t0015g0049 a0002c0035t0047g0076 a0026c0082t0052g0097	3	126	0.0238	31	c.819 others(50): Show c.819-42338_819-42337insCTATATCTATACATGATAGATATATA TCTAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4441095	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0037 a0037	a0037c0101 a0037c0101	a0037c0101t0008 a0037c0101t0008	a0037c0101t0008g0023 a0037c0101t0008g0023	1	126	0.0079	31	c.303 others(50): Show c.303-21031_303-21030insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112270359	T T	TGTGTGTG others(24): Show TGTGTGTGTGTGTGTGTGTGTGTTAGGGGTGA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0073 a0001c0016t0001g0073	1	80	0.0125	31	c.950 others(50): Show c.9509-4770_9509-4769insTCACCCCTAACACACACACACACACA CACAC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	59/70			chr8	TogoVar
CSNK1G2_chr19_1936172_1986338	1955486	C C	CGAGGCTC others(24): Show CGAGGCTCCGCGGGGTGGGCGTGTGCCAGGGT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01243.hp1 HG01884.hp1 others(3): Show HG01123.hp1 HG01243.hp1 HG01884.hp1 HG02970.hp2 HG03139.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0009 a0001c0001t0001g0329 a0001c0001t0001g0336 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0329 a0001c0001t0001g0336 a0001c0001t0001g0350 a0001c0001t0001g0368 a0001c0001t0023g0355	6	382	0.0157	31	c.-26 others(52): Show c.-265-13995_-265-13965dupAGGGTGAGGCTCCGCGGGGTGGGC GTGTGCC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1955536	C C	CGTGTGCC others(24): Show CGTGTGCCAGGGTGAGGCTCCGCGGGGTGGGT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	382	0.0026	31	c.-26 others(52): Show c.-265-13965_-265-13964insAGGGTGAGGCTCCGCGGGGTGGGT GTGTGCC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1955536	C C	CGTGTGCC others(24): Show CGTGTGCCAGGGTGAGGCTCTGCGGGGTGGGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp2 HG03130.hp1 others(2): Show HG02572.hp1 HG02630.hp2 HG03130.hp1 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0190 a0001c0002t0002g0198 a0001c0002t0002g0199 others(2): Show a0001c0002t0002g0190 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201	5	382	0.0131	31	c.-26 others(52): Show c.-265-13965_-265-13964insAGGGTGAGGCTCTGCGGGGTGGGT GTGTGCC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSNK2A1_chr20_467498_548790	514520	T T	TCCACCTC others(24): Show TCCACCTCATCTCCTGGGCTTGAGCAATCCTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0311 a0001c0001t0088g0311	1	316	0.0032	31	c.-10 others(50): Show c.-109-5891_-109-5861dupGAGGATTGCTCAAGCCCAGGAGATGA GGTGG	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	2/13			chr20	TogoVar
CSNK2A2_chr16_58152907_58203106	58171979	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	400	0.0025	31	c.429 others(48): Show c.429+2471_429+2472insATATATATATATATATATATATATATAT ATA	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58171979	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	400	0.0025	31	c.429 others(48): Show c.429+2471_429+2472insAAATATATATATATATATATATATATAT ATA	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNKA2IP_chr3_88333456_88472594	88445932	T T	TTCTTTCT others(24): Show TTCTTTCTTTCCTTCTTTCTTTCTTCTTTCTC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA20129.hp2 NA19030.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0002 a0002c0011t0001 a0002c0002t0002 a0002c0011t0001	a0002c0002t0002g0282 a0002c0011t0001g0005 a0002c0002t0002g0282 a0002c0011t0001g0005	2	386	0.0052	31	c.-27 others(52): Show c.-270-19156_-270-19155insTCTTTCTTTCCTTCTTTCTTTCTT CTTTCTC	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1			chr3	TogoVar
CSPP1_chr8_67059392_67201614	67083548	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0012 a0002c0004t0003g0012	1	158	0.0063	31	c.200 others(48): Show c.200-2458_200-2457insAAAAAAAAAAAAATATATATATATATAT ATA	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CSPP1_chr8_67059392_67201614	67159957	C C	CTTTTCTT others(24): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG06807.hp2 HG02109.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0094 a0001c0001t0001g0039 a0001c0001t0001g0094	2	158	0.0127	31	c.253 others(48): Show c.2538+823_2538+824insTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTT	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CSPP1_chr8_67059392_67201614	67160026	C C	CTTTTCTT others(24): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	158	0.0063	31	c.253 others(48): Show c.2538+898_2538+899insCTTTTCTTTTCTTTTCTTTTCTTTTTCT TTT	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CSRNP3_chr2_165464698_165694407	165520783	T T	TTATATAC others(24): Show TTATATACATATATATATATATTATATACATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0067 a0002c0003t0010g0067	1	246	0.0041	31	c.-24 others(48): Show c.-24+2828_-24+2829insCATATATATATATATTATATACATATAT ATA	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSRNP3_chr2_165464698_165694407	165666988	A A	AAAGAGAG others(24): Show AAAGAGAGAGGAAGGAAGGAAGGAAAGAGAGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00738.hp1 others(29): Show HG00140.hp2 HG00280.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp2 HG01106.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01884.hp2 HG01993.hp2 HG02071.hp2 HG02630.hp1 HG03017.hp1 HG03098.hp1 HG03490.hp2 HG03669.hp1 HG03834.hp1 HG03927.hp2 HG06807.hp1 NA18961.hp2 NA18974.hp2 NA18992.hp2 NA18999.hp1 NA19003.hp1 NA19043.hp1 NA19082.hp1 NA19085.hp2 NA19087.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0011 a0001c0001t0023 others(15): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0023 a0001c0001t0057 a0001c0001t0060 a0001c0001t0069 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0012 a0001c0002t0019 a0001c0002t0021 a0001c0002t0031 a0001c0002t0038 a0001c0002t0039 a0001c0002t0045 a0002c0003t0005	a0001c0001t0002g0016 a0001c0001t0011g0139 a0001c0001t0023g0138 others(29): Show a0001c0001t0002g0016 a0001c0001t0011g0139 a0001c0001t0023g0138 a0001c0001t0057g0028 a0001c0001t0060g0004 a0001c0001t0069g0035 a0001c0002t0001g0024 a0001c0002t0001g0073 a0001c0002t0001g0178 a0001c0002t0005g0027 a0001c0002t0005g0030 a0001c0002t0005g0036 a0001c0002t0005g0042 a0001c0002t0006g0038 a0001c0002t0006g0039 a0001c0002t0006g0040 a0001c0002t0006g0041 a0001c0002t0006g0070 a0001c0002t0006g0077 a0001c0002t0006g0104 a0001c0002t0008g0044 a0001c0002t0012g0071 a0001c0002t0012g0079 a0001c0002t0012g0100 a0001c0002t0012g0160 a0001c0002t0019g0018 a0001c0002t0021g0076 a0001c0002t0031g0223 a0001c0002t0038g0060 a0001c0002t0039g0037 a0001c0002t0045g0043 a0002c0003t0005g0108	32	246	0.1301	31	c.408 others(48): Show c.408+8972_408+8973insGAGAGGAAGGAAGGAAGGAAAGAGAGGA AGA	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CT45A3_chrX_135755044_135773191	135759357	T T	TATATACA others(24): Show TATATACACACCATATATGGTATATATACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02818.hp1 NA20129.hp2 HG02257.hp2 HG02818.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	3	160	0.0188	31	c.99 others(40): Show c.994_*995insGTGGTATATATACCATATATGGTGTGTATAT	CT45A3	ENSG00000269096.7	transcript	ENST00000598716.3	protein_coding		686		chrX	TogoVar
CT45A6_chrX_135789685_135807787	135803898	A A	AAAGAAAG others(24): Show AAAGAAAGAGAGAAAGAAAGAGAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG02922.hp2 HG01258.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0006 a0001c0001t0001g0022	2	36	0.0556	31	c.-13 others(42): Show c.-1395_-1394insCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTT	CT45A6	ENSG00000278289.5	transcript	ENST00000620654.2	protein_coding		1112		chrX	TogoVar
CTBP1_chr4_1206445_1254130	1210755	C C	CACCCGCT others(24): Show CACCCGCTGCAGCCCCTCCTCGCACCGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 NA18983.hp1 HG01243.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0191 a0001c0001t0002g0161 a0001c0001t0002g0191	2	422	0.0047	31	c.14 others(42): Show c.1484_*1485insCCAGGCGGTGCGAGGAGGGGCTGCAGCGGGT	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding		689		chr4	TogoVar
CTBP1_chr4_1206445_1254130	1210777	T T	TACCACCT others(24): Show TACCACCTGGACCCGCTGCAGCCCCTCCTCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	422	0.0024	31	c.14 others(42): Show c.1462_*1463insGCGAGGAGGGGCTGCAGCGGGTCCAGGTGGT	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding		667		chr4	TogoVar
CTBP1_chr4_1206445_1254130	1210781	A A	ACCTGGAC others(24): Show ACCTGGACCCGCTGCAGCCCCTCCTCGCACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG01069.hp1 others(20): Show HG00408.hp1 HG00558.hp1 HG01069.hp1 HG01071.hp2 HG01167.hp1 HG02451.hp2 HG02486.hp1 HG02647.hp1 HG02683.hp1 HG02738.hp2 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG03139.hp1 HG03209.hp1 HG03516.hp2 HG04115.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18978.hp2 NA18993.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0009 a0001c0001 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0001t0021 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0021 a0001c0004t0001 a0001c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0342 a0001c0001t0021g0352 a0001c0004t0001g0065 a0001c0004t0001g0147 a0001c0009t0001g0346	23	422	0.0545	31	c.14 others(42): Show c.1458_*1459insCGGTGCGAGGAGGGGCTGCAGCGGGTCCAGG	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding		663		chr4	TogoVar
CTDSPL2_chr15_44422629_44534038	44506412	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0039 a0001c0002t0005g0039	1	234	0.0043	31	c.969 others(48): Show c.969+6620_969+6621insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	CTDSPL2	ENSG00000137770.14	transcript	ENST00000260327.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CTNNA1_chr5_138748425_138940034	138777929	A A	AGGGGGAG others(24): Show AGGGGGAGGAGGGAGAGGGGGAGGAGGGAGAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0048 a0001c0002t0003g0048	1	180	0.0056	31	c.-2- others(46): Show c.-2-3989_-2-3959dupGAGGAGGGAGAGGGGGAGGAGGGAGAGGGG G	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA2_chr2_79508051_80653780	80562146	C C	CTAAGTAT others(24): Show CTAAGTATTTTGAATACTTAGGTTACCAGTAT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG03688.hp1 HG03927.hp2 HG02148.hp2 HG03688.hp1 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0003t0002 a0001c0005t0002 a0001c0003t0001 a0001c0003t0002 a0001c0005t0002	a0001c0003t0001g0018 a0001c0003t0002g0008 a0001c0005t0002g0063 a0001c0003t0001g0018 a0001c0003t0002g0008 a0001c0005t0002g0063	3	68	0.0441	31	c.174 others(50): Show c.1741+6254_1741+6255insAAGTATTTTGAATACTTAGGTTACCA GTATT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80591457	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	68	0.0147	31	c.218 others(50): Show c.2189+1993_2189+1994insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA3_chr10_65907523_67701195	66021852	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0014 a0002c0002t0005g0014	1	46	0.0217	31	c.216 others(52): Show c.2160-33056_2160-33055insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	15/17			chr10	TogoVar
CTR9_chr11_10746246_10784746	10747213	G G	GTATATTA others(24): Show GTATATTATATATTTATATAATTATATAAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01433.hp1 HG01106.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	2	406	0.0049	31	c.-42 others(42): Show c.-4200_-4199insTATATTATATATTTATATAATTATATAAATA	CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding		4032		chr11	TogoVar
CTR9_chr11_10746246_10784746	10747213	G G	GTATATTA others(24): Show GTATATTATATATTTATATAATTATATTAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp1 NA19091.hp2 NA19055.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0003 a0001c0001t0007g0003 a0001c0001t0001g0003 a0001c0001t0007g0003	2	406	0.0049	31	c.-42 others(42): Show c.-4200_-4199insTATATTATATATTTATATAATTATATTAATA	CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding		4032		chr11	TogoVar
CTR9_chr11_10746246_10784746	10747234	T T	TTATATAT others(24): Show TTATATATAATATATATTATATATTTATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01891.hp1 HG02615.hp1 HG01257.hp1 HG01891.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0003t0001g0185 a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0003t0001g0185	3	406	0.0074	31	c.-41 others(42): Show c.-4179_-4178insTATATATAATATATATTATATATTTATATAA	CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding		4011		chr11	TogoVar
CTR9_chr11_10746246_10784746	10747241	T T	TAATATAT others(24): Show TAATATATATTATATATTTATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	406	0.0025	31	c.-41 others(42): Show c.-4172_-4171insAATATATATTATATATTTATATAATTATATA	CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding		4004		chr11	TogoVar
CTR9_chr11_10746246_10784746	10747348	T T	TATATATA others(24): Show TATATATAAAATATATTTATATTATATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	406	0.0025	31	c.-40 others(42): Show c.-4065_-4064insATATATAAAATATATTTATATTATATATAAA	CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding		3897		chr11	TogoVar
CTSS_chr1_150725188_150770778	150743561	G G	GTATGTAT others(24): Show GTATGTATACATAATATATTATATATGTATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02027.hp2 HG02897.hp1 others(3): Show HG00323.hp1 HG02027.hp2 HG02897.hp1 HG03579.hp2 NA18906.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0002 a0002c0002t0005	a0002c0002t0002g0016 a0002c0002t0002g0055 a0002c0002t0002g0067 others(2): Show a0002c0002t0002g0016 a0002c0002t0002g0055 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0005g0082	6	344	0.0174	31	c.896 others(48): Show c.896+4185_896+4215dupATATACATATATAATATATTATGTATAC ATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTSS_chr1_150725188_150770778	150743852	T T	TTATATAT others(24): Show TTATATATTATATGTATATTATGTATACATAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0075 a0002c0002t0002g0075	1	344	0.0029	31	c.896 others(48): Show c.896+3894_896+3924dupTTATGTATACATAATATACATATAATAT ATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTSS_chr1_150725188_150770778	150744633	G G	GATTATGT others(24): Show GATTATGTATGCATACATAATATGTATTGTAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03239.hp1 HG03834.hp2 HG02738.hp2 HG03239.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0156 a0001c0001t0001g0202 a0001c0001t0016g0214 a0001c0001t0001g0156 a0001c0001t0001g0202 a0001c0001t0016g0214	3	344	0.0087	31	c.896 others(48): Show c.896+3113_896+3143dupATACAATACATATTATGTATGCATACAT AAT	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTTNBP2_chr7_117705651_117878441	117811829	T T	TAAAATTT others(24): Show TAAAATTTTAATTAAATTAAAATTTTAATGTA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	164	0.0061	31	c.190 others(46): Show c.190-871_190-841dupTACATTAAAATTTTAATTTAATTAAAATTT T	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	2/22			chr7	TogoVar
CTTNBP2_chr7_117705651_117878441	117817361	A A	ATAAATAA others(24): Show ATAAATAAATAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	164	0.0061	31	c.190 others(48): Show c.190-6373_190-6372insATATATATATATATATATATTTATTTAT TTA	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	2/22			chr7	TogoVar

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Search Results (Total: 5228 hits)