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
CROCC2_chr2_240901336_240998311	240923834	G G	GGCCCCCC others(46): Show GGCCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCCACACTAA CCCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03225.hp1 NA18522.hp2 HG02109.hp2 HG03225.hp1 NA18522.hp2	a0012 a0024 a0012 a0024	a0012c0013 a0024c0077 a0012c0013 a0024c0077	a0012c0013t0001 a0024c0077t0001 a0012c0013t0001 a0024c0077t0001	a0012c0013t0001g0121 a0012c0013t0001g0123 a0024c0077t0001g0111 a0012c0013t0001g0121 a0012c0013t0001g0123 a0024c0077t0001g0111	3	350	0.0086	53	c.488 others(70): Show c.488+1206_488+1207insAGCCCCCACACTGACCCGGCCCCCCACA CTAACCCAGCCCCCCACACTAACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923834	G G	GGCCCCCC others(46): Show GGCCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCCACACTGA CCCA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03209.hp2 HG02809.hp1 HG03209.hp2	a0012 a0013 a0012 a0013	a0012c0013 a0013c0076 a0012c0013 a0013c0076	a0012c0013t0001 a0013c0076t0001 a0012c0013t0001 a0013c0076t0001	a0012c0013t0001g0106 a0013c0076t0001g0105 a0012c0013t0001g0106 a0013c0076t0001g0105	2	350	0.0057	53	c.488 others(70): Show c.488+1206_488+1207insAGCCCCCACACTGACCCGGCCCCCCACA CTGACCCAGCCCCCCACACTAACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923904	G G	GGCCCCCC others(46): Show GGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTAA CCCA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02129.hp2 NA18948.hp2 others(2): Show HG02071.hp2 HG02129.hp2 NA18948.hp2 NA18963.hp2 NA19088.hp1	a0001 a0002 a0062 a0001 a0002 a0062	a0001c0022 a0002c0011 a0062c0095 a0001c0022 a0002c0011 a0062c0095	a0001c0022t0002 a0002c0011t0002 a0062c0095t0002 a0001c0022t0002 a0002c0011t0002 a0062c0095t0002	a0001c0022t0002g0343 a0002c0011t0002g0243 a0002c0011t0002g0297 others(2): Show a0001c0022t0002g0343 a0002c0011t0002g0243 a0002c0011t0002g0297 a0002c0011t0002g0332 a0062c0095t0002g0298	5	350	0.0143	53	c.488 others(70): Show c.488+1265_488+1266insCACACTAACCCGGCCCCCCACACTAACC CAGCCCCCACACTAACCCAGCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923922	G G	GCCCCCAC others(46): Show GCCCCCACACTGACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACC CGGC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0001 a0015c0016t0001	a0015c0016t0001g0070 a0015c0016t0001g0070	1	350	0.0029	53	c.488 others(70): Show c.488+1287_488+1288insGACCCAGCCCCCCACACTAACCCAGCCC CCACACTAACCCGGCCCCCCACACT	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924126	A A	AACCCGGC others(46): Show AACCCGGCCCCCAACACTAACCCAGCCCCCCACACTAACCCAGTCCCCAC ACTG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0057 a0057	a0057c0031 a0057c0031	a0057c0031t0001 a0057c0031t0001	a0057c0031t0001g0107 a0057c0031t0001g0107	1	350	0.0029	53	c.488 others(70): Show c.488+1485_488+1486insGGCCCCCAACACTAACCCAGCCCCCCAC ACTAACCCAGTCCCCACACTGACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924165	G G	GGCCCCCC others(46): Show GGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAA CCCA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0318 a0002c0002t0002g0318	1	350	0.0029	53	c.488 others(70): Show c.488+1537_488+1538insGGCCCCCCACACTAACCCGGCCCCCACA CTAACCCAGCCCCCCACACTAACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924374	C C	CTAACCCC others(46): Show CTAACCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAA CCCG	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18951.hp2 HG00438.hp2 NA18951.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0002 a0008c0008t0002 a0001c0001t0002 a0008c0008t0002	a0001c0001t0002g0280 a0008c0008t0002g0281 a0001c0001t0002g0280 a0008c0008t0002g0281	2	350	0.0057	53	c.489 others(70): Show c.489-1350_489-1349insTAACCCCACACTAACCCGGCCCCCACAC TAACCCGGCCCCCCACACTAACCCG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924426	A A	AGCCCCCC others(46): Show AGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAT CCCG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0060 a0001c0060	a0001c0060t0001 a0001c0060t0001	a0001c0060t0001g0150 a0001c0060t0001g0150	1	350	0.0029	53	c.489 others(70): Show c.489-1292_489-1291insCACACTAACCCGGCCCCCCACACTAACC CAGTCCCCACACTATCCCGGCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924444	G G	GCCCCCAC others(46): Show GCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCTCACACTAACC CGGC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0028 a0028	a0028c0047 a0028c0047	a0028c0047t0001 a0028c0047t0001	a0028c0047t0001g0202 a0028c0047t0001g0202	1	350	0.0029	53	c.489 others(70): Show c.489-1268_489-1267insTCCGGCCCCCACACTAACCCGGCCCCTC ACACTAACCCGGCCCCCCACACTAA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924657	C C	CCCCCACA others(46): Show CCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACC CAGT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0181 a0002c0002t0001g0181	1	350	0.0029	53	c.489 others(70): Show c.489-1053_489-1052insGGCCCCCCACACTAACCCGGCCCCCCAC ACTAACCCAGTCCCCACACTAACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924793	G G	GTCCCCAC others(46): Show GTCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACC CGGC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0001 a0010c0009t0001	a0010c0009t0001g0051 a0010c0009t0001g0051	1	350	0.0029	53	c.489 others(68): Show c.489-931_489-930insTCCCCACACTGACCCGGCCCCCACACTAAC CCGGCCCCCCACACTAACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CRTC3_chr15_90524923_90650345	90643872	C C	CCCAGAGG others(46): Show CCCAGAGGAGCAAGGCTGTACAATGAGGGTCTGAATCTGGCACACCTGTC CCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0026 a0004c0005t0026	a0004c0005t0026g0088 a0004c0005t0026g0088	1	276	0.0036	53	c.17 others(64): Show c.1733_*1785dupCCAGAGGAGCAAGGCTGTACAATGAGGGTCTGAA TCTGGCACACCTGTCCCTT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding	15/15	1786	INFO_REALIGN_3_PRIME	chr15	TogoVar
CRYBG1_chr6_106355717_106577017	106361969	C C	CTTTCTTT others(46): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	272	0.0037	53	c.173 others(68): Show c.173+891_173+892insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106361972	T T	TCTTTCTT others(46): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0005 a0003c0002t0005	a0003c0002t0005g0082 a0003c0002t0005g0082	1	272	0.0037	53	c.173 others(68): Show c.173+891_173+892insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTC	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21			chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106483402	A A	ATATATAT others(46): Show ATATATATATATGTATATATATATATATATATATATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0034 a0011c0014t0001g0034	1	272	0.0037	53	c.313 others(72): Show c.313-28028_313-28027insTATATATATATGTATATATATATATA TATATATATATATATATATATATATAT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	2/21			chr6	TogoVar
CSMD2_chr1_33508998_34170230	33510184	G G	GGGAGAGG others(46): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0017 a0017	a0017c0052 a0017c0052	a0017c0052t0003 a0017c0052t0003	a0017c0052t0003g0040 a0017c0052t0003g0040	1	66	0.0152	53	c.64 others(64): Show c.6439_*6440insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCC	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding		3813		chr1	TogoVar
CSNK1G2_chr19_1936172_1986338	1967647	G G	GCCACCCT others(46): Show GCCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCCAGGCTGCC CCCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01123.hp2 HG01256.hp1 others(1): Show HG00140.hp2 HG01123.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0130 a0001c0001t0001g0260 others(1): Show a0001c0001t0001g0094 a0001c0001t0001g0130 a0001c0001t0001g0260 a0001c0001t0001g0261	4	382	0.0105	53	c.-26 others(72): Show c.-265-1828_-265-1776dupCTCCTCCCCAGGCTGCCCCCACCACC CTTCAGTTCTGCAGGTGGGGCTCCTCC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1967821	G G	GACCACCC others(46): Show GACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCATCCTCCCCAGGCTGC CCCC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18995.hp2 NA18747.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0218 a0001c0001t0001g0197 a0001c0001t0001g0218	2	382	0.0052	53	c.-26 others(72): Show c.-265-1654_-265-1653insATCCTCCCCAGGCTGCCCCCACCACC CTTCAGTTCTGCAGGTGGGGCTCCTCC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1967969	G G	GCTCCTCC others(46): Show GCTCCTCCCCAGGCTGCCCCCACCACCCTTCAGTTCTGCAGGTGGGGCTC CTCC	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	382	0.0026	53	c.-26 others(72): Show c.-265-1531_-265-1530insCAGGCTGCCCCCACCACCCTTCAGTT CTGCAGGTGGGGCTCCTCCCTCCTCCC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CT45A1_chrX_135708639_135728228	135712982	C C	CTTTCTTT others(46): Show CTTTCTTTCTTTCTTTTCTTTCTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01928.hp1 HG00741.hp2 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	57	0.0351	53	c.-71 others(62): Show c.-715_-714insTTTCTTTCTTTCTTTTCTTTCTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCT	CT45A1	ENSG00000268940.6	transcript	ENST00000594565.6	protein_coding		656		chrX	TogoVar
CT45A1_chrX_135708639_135728228	135712982	C C	CTTTCTTT others(46): Show CTTTCTTTCTTTTCTTTCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	57	0.0175	53	c.-71 others(62): Show c.-715_-714insTTTCTTTCTTTTCTTTCTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCT	CT45A1	ENSG00000268940.6	transcript	ENST00000594565.6	protein_coding		656		chrX	TogoVar
CT45A1_chrX_135708639_135728228	135712982	C C	CTTTCTTT others(46): Show CTTTCTTTTCTTTCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	57	0.0175	53	c.-71 others(62): Show c.-715_-714insTTTCTTTTCTTTCTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCT	CT45A1	ENSG00000268940.6	transcript	ENST00000594565.6	protein_coding		656		chrX	TogoVar
CT45A1_chrX_135708639_135728228	135723962	C C	CATATATG others(46): Show CATATATGGTATATATACCATATATGGTATATATATATATATATATATAT ATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	57	0.0175	53	c.92 others(62): Show c.929_*930insATATATGGTATATATACCATATATGGTATATATATA TATATATATATATATAT	CT45A1	ENSG00000268940.6	transcript	ENST00000594565.6	protein_coding		735		chrX	TogoVar
CT45A3_chrX_135755044_135773191	135769441	G G	GAAAGAAA others(46): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAA AAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	160	0.0063	53	c.-13 others(64): Show c.-1341_-1340insTTTTTTTCTTTCTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTT	CT45A3	ENSG00000269096.7	transcript	ENST00000598716.3	protein_coding		1251		chrX	TogoVar
CTNNA1_chr5_138748425_138940034	138840715	T T	TAGAAATG others(46): Show TAGAAATGTACTATAGAAATGTAATATATATATATATAGAATAGTAGAAA TGTA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	180	0.0056	53	c.106 others(74): Show c.1062+12997_1062+12998insAGAAATGTACTATAGAAATGTAAT ATATATATATATAGAATAGTAGAAATGTA	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	7/17			chr5	TogoVar
CTNS_chr17_3631760_3668103	3659597	C C	CCAGCTAC others(46): Show CCAGCTACAGGGAAACTAGCACAGGCCTTGCCCCAGGGATGTGAGAGCGT CAGA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	372	0.0027	53	c.853 others(68): Show c.853-261_853-260insCAGCTACAGGGAAACTAGCACAGGCCTTGC CCCAGGGATGTGAGAGCGTCAGA	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	10/11			chr17	TogoVar
CYP4Z1_chr1_47062231_47123318	47076844	C C	CAAAAAAA others(46): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	318	0.0031	53	c.320 others(70): Show c.320-3761_320-3760insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAA	CYP4Z1	ENSG00000186160.5	transcript	ENST00000334194.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
D2HGDH_chr2_241729630_241773811	241767344	A A	AGGGGGGA others(46): Show AGGGGGGAGAAGTTGGGGAGATGGGAGCCCCCGGGCTGAGGGGAGTAGGA AGAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0050 a0004c0005t0050	a0004c0005t0050g0074 a0004c0005t0050g0074	1	412	0.0024	53	c.130 others(70): Show c.1307-336_1307-335insCGGGCTGAGGGGAGTAGGAAGAGGGGGG GAGAAGTTGGGGAGATGGGAGCCCC	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DAPK1_chr9_87492867_87713634	87571474	C C	CACACACA others(46): Show CACACACACACCCCAACACACACACACACACACCCCCCAACACACACACA CACA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0175 a0001c0009t0001g0175	1	236	0.0042	53	c.63- others(70): Show c.63-33480_63-33479insACACACACACCCCAACACACACACACAC ACACCCCCCAACACACACACACACA	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25			chr9	TogoVar
DAZAP1_chr19_1402586_1440684	1419926	A A	AGCGAGCA others(46): Show AGCGAGCACTCACCCCACGCGCACACTCATGAAACCATCCCTACAGTCAC GGCG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp1 HG02896.hp2 others(5): Show HG02717.hp1 HG02818.hp1 HG02896.hp2 HG02976.hp1 HG03453.hp2 HG03516.hp1 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0029 a0001c0001t0047 a0001c0003t0017	a0001c0001t0002g0316 a0001c0001t0004g0035 a0001c0001t0006g0297 others(5): Show a0001c0001t0002g0316 a0001c0001t0004g0035 a0001c0001t0006g0297 a0001c0001t0006g0302 a0001c0001t0007g0035 a0001c0001t0029g0034 a0001c0001t0047g0034 a0001c0003t0017g0276	8	374	0.0214	53	c.304 others(70): Show c.304-1116_304-1064dupGGCGAGCACTCACCCCACGCGCACACTC ATGAAACCATCCCTACAGTCACGGC	DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
DAZAP1_chr19_1402586_1440684	1420116	A A	AAACCATC others(46): Show AAACCATCCCTACAGTCACGGCGGCGAGCACTCACCCCACGCGCACACTC ATGG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02723.hp2 HG03041.hp2 others(4): Show HG00733.hp2 HG02723.hp2 HG03041.hp2 HG03139.hp2 HG03516.hp2 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 others(1): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0020	a0001c0001t0005g0004 a0001c0001t0009g0004 a0001c0001t0009g0299 others(2): Show a0001c0001t0005g0004 a0001c0001t0009g0004 a0001c0001t0009g0299 a0001c0001t0012g0004 a0001c0001t0020g0298	7	374	0.0187	53	c.304 others(70): Show c.304-1023_304-1022insTACAGTCACGGCGGCGAGCACTCACCCC ACGCGCACACTCATGGAACCATCCC	DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
DAZAP1_chr19_1402586_1440684	1420122	T T	TCCCGAAC others(46): Show TCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAA CCAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG01993.hp2 others(6): Show HG01109.hp2 HG01884.hp2 HG01993.hp2 HG02055.hp1 HG02451.hp2 HG02818.hp2 HG02895.hp2 HG03540.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013	a0001c0001t0001g0095 a0001c0001t0002g0234 a0001c0001t0004g0163 others(6): Show a0001c0001t0001g0095 a0001c0001t0002g0234 a0001c0001t0004g0163 a0001c0001t0004g0245 a0001c0001t0007g0226 a0001c0001t0008g0018 a0001c0001t0011g0018 a0001c0001t0011g0286 a0001c0001t0013g0287	9	374	0.0241	53	c.304 others(68): Show c.304-814_304-762dupCCCCGAACGTCACGGCGGCGAGCACTCACC CCACGCGCACACTCATGAAACCA	DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
DBNDD1_chr16_89999871_90024456	90003477	A A	ACGTGCAC others(46): Show ACGTGCACGTGGGGCGGGACTTCTATGACTCCCTCCCCCGGCCCGGGCCA CCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	412	0.0024	53	c.28 others(64): Show c.2857_*2858insAAGGTGGCCCGGGCCGGGGGAGGGAGTCATAGAA GTCCCGCCCCACGTGCACG	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1393		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003477	A A	ACGTGCAC others(46): Show ACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCCA CCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	412	0.0024	53	c.28 others(64): Show c.2857_*2858insAAGGTGGCCCGGGCCGGGGGAGGGAGTCACAGAA GTCCCGCCCCACGTGCACG	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1393		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003477	A A	ACGTGCAC others(46): Show ACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCA CCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	412	0.0024	53	c.28 others(64): Show c.2857_*2858insAAGGTGGCCCGGGCCAGGGGAGGGAGTCACAGAA GTCCCGCCCCACGTGCACG	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1393		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003587	A A	ACGTGCAC others(46): Show ACGTGCACGTGGGGCGGGACTTCTATGACTCCCTCCCCTGGCCCGGGCCA CCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	412	0.0024	53	c.27 others(64): Show c.2747_*2748insAAGGTGGCCCGGGCCAGGGGAGGGAGTCATAGAA GTCCCGCCCCACGTGCACG	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1283		chr16	TogoVar
DCANP1_chr5_135439214_135452348	135445798	A A	AAAAACCT others(46): Show AAAAACCTGTGTTTTCCTAGTGGATGATTTCCTTCTATTGTTTTGATAAA ATAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0000 a0001c0001t0019g0000	1	456	0.0022	53	c.57 others(62): Show c.575_*576insCTATTTTATCAAAACAATAGAAGGAAATCATCCACT AGGAAAACACAGGTTTT	DCANP1	ENSG00000251380.3	transcript	ENST00000503143.3	protein_coding	1/1	575		chr5	TogoVar
DCC_chr18_52335197_53540899	53300972	T T	TCTTTCTT others(46): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01993.hp2 HG01346.hp2 HG01993.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0023 a0001c0008t0026 a0001c0008t0023 a0001c0008t0026	a0001c0008t0023g0098 a0001c0008t0026g0095 a0001c0008t0023g0098 a0001c0008t0026g0095	2	114	0.0175	53	c.191 others(72): Show c.1912-4586_1912-4585insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCCTTTCTTTCTTTCTTTCTTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCLK2_chr4_150073445_150262438	150251133	T T	TCCCCCAC others(46): Show TCCCCCACATCCCCCACACCCCCCACATCCCCACACACCCCCCACATCCC CCAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	116	0.0086	53	c.207 others(72): Show c.2073+1449_2073+1450insCCCCCACATCCCCCACACCCCCCACA TCCCCACACACCCCCCACATCCCCCAC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15			chr4	TogoVar
DENND6B_chr22_50304030_50332012	50307888	A A	AGGGGGCG others(46): Show AGGGGGCGGGGGGAGGGGGCGGGGCGTGGGGGGCGGGGAGGGGCCGGGGA GGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0217 a0002c0002t0001g0217	1	326	0.0031	53	c.42 others(64): Show c.4250_*4251insCCCCTCCCCGGCCCCTCCCCGCCCCCCACGCCCC GCCCCCTCCCCCCGCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding		1141		chr22	TogoVar
DEPTOR_chr8_119868722_120055918	119887143	T T	TCCCCTCC others(46): Show TCCCCTCCCCTCCCCCCCTCCTCCCCTCCCCTCCCCCCCCTCCTCCCCTC CTCC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0009 a0004c0006t0009	a0004c0006t0009g0193 a0004c0006t0009g0193	1	198	0.0051	53	c.122 others(72): Show c.122+13177_122+13178insCCTCCCCTCCCCCCCTCCTCCCCTCC CCTCCCCCCCCTCCTCCCCTCCTCCCC	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEUP1_chr11_93325742_93443470	93417220	G G	GGAAAAGA others(46): Show GGAAAAGAGGAAGTCAAATTGTCCCTGTTTGCAGATGACATGATTGTATA TCGA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0235 a0003c0003t0002g0235	1	368	0.0027	53	c.163 others(72): Show c.1638+2112_1638+2164dupGAGGAAGTCAAATTGTCCCTGTTTGC AGATGACATGATTGTATATCGAGAAAA	DEUP1	ENSG00000165325.15	transcript	ENST00000298050.9	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
DHRS12_chr13_51762993_51809163	51775091	T T	TCTCCTAC others(46): Show TCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTAT TCTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	420	0.0024	53	c.364 others(70): Show c.364-1058_364-1057insGAGAATACTGTAGAATACATGTAGGAGA ATACTGTAGGAGAATACTGTAGGAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHX40_chr17_59560610_59613345	59570062	T T	TTATAATA others(46): Show TTATAATATATTATAATGTATATTAATATATATAATATATAGTATATATT ATAA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	324	0.0031	53	c.281 others(68): Show c.281-452_281-451insATATATTATAATGTATATTAATATATATAA TATATAGTATATATTATAATATA	DHX40	ENSG00000108406.10	transcript	ENST00000251241.9	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
DIAPH2_chrX_96679842_97609997	97129122	T T	TTTTCTTT others(46): Show TTTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	147	0.0068	53	c.259 others(74): Show c.2590-12531_2590-12530insCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTCTTTTCTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	21/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97129122	T T	TTTTCTTT others(46): Show TTTTCTTTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp1 HG00738.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0006 a0001c0009t0001 a0001c0001t0006 a0001c0009t0001	a0001c0001t0006g0056 a0001c0009t0001g0007 a0001c0001t0006g0056 a0001c0009t0001g0007	2	147	0.0136	53	c.259 others(74): Show c.2590-12526_2590-12525insCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTCTTTTCTTTTCTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	21/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97129127	T T	TTTTCTTT others(46): Show TTTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0099 a0001c0001t0009g0099	1	147	0.0068	53	c.259 others(74): Show c.2590-12526_2590-12525insCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTCTTTTCTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	21/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIDO1_chr20_62872743_62931505	62875314	G G	GCACCCCC others(46): Show GCACCCCCACCCCCACCCTCACCCCCACCCGCACCCGCACCCCCACCCTC ACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0219 a0003c0003t0001g0219	1	320	0.0031	53	c.39 others(64): Show c.3918_*3919insGGGTGAGGGTGGGGGTGCGGGTGCGGGTGGGGGT GAGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2428		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875314	G G	GCACCCCC others(46): Show GCACCCCCACCCCCACCCTCACCCTCACCCGCACCCGCACCCCCACCCTC ACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00544.hp2 others(29): Show HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00621.hp2 HG01175.hp1 HG01258.hp1 HG01928.hp1 HG01952.hp2 HG02080.hp1 HG02135.hp1 HG02165.hp1 HG02572.hp2 HG02818.hp2 HG03209.hp2 HG03239.hp2 HG04115.hp2 HG04204.hp2 NA18952.hp1 NA18953.hp2 NA18961.hp2 NA18965.hp1 NA18968.hp2 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18999.hp2 NA19000.hp2 NA19007.hp2 NA19056.hp2 NA19066.hp2 NA19068.hp2 NA19080.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0003c0042 a0003c0043 a0006c0008	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0003c0042t0001 a0003c0043t0001 a0006c0008t0001	a0001c0001t0001g0051 a0001c0001t0001g0053 a0002c0002t0001g0168 others(27): Show a0001c0001t0001g0051 a0001c0001t0001g0053 a0002c0002t0001g0168 a0002c0002t0001g0181 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0025 a0003c0003t0001g0026 a0003c0003t0001g0064 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0224 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0229 a0003c0003t0001g0230 a0003c0003t0001g0235 a0003c0003t0001g0239 a0003c0003t0001g0245 a0003c0003t0001g0246 a0003c0003t0001g0253 a0003c0003t0001g0254 a0003c0003t0001g0256 a0003c0003t0001g0262 a0003c0003t0001g0265 a0003c0003t0001g0268 a0003c0042t0001g0233 a0003c0043t0001g0234 a0006c0008t0001g0153	32	320	0.1000	53	c.39 others(64): Show c.3918_*3919insGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGT GAGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2428		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875314	G G	GCACCCCC others(46): Show GCACCCCCACCCCCACCCTCACCCTCACCGCACCCCGCACCCCCACCCTC ACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	1	320	0.0031	53	c.39 others(64): Show c.3918_*3919insGGGTGAGGGTGGGGGTGCGGGGTGCGGTGAGGGT GAGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2428		chr20	TogoVar

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Search Results (Total: 10000 hits)