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
KMT2C_chr7_152129925_152441003	152296995	G G	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA19030.hp1 HG02895.hp1 NA19030.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0010c0016 a0002c0002 a0010c0016	a0002c0002t0006 a0010c0016t0006 a0002c0002t0006 a0010c0016t0006	a0002c0002t0006g0084 a0010c0016t0006g0171 a0002c0002t0006g0084 a0010c0016t0006g0171	2	172	0.0116	28	c.849 others(47): Show c.849+12970_849+12971insTTCTTTCTTTCTTTCTTTCTTTCTTT CT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152297047	A A	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAAAGAAAGACAGAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0002 a0002c0005t0005g0002	1	172	0.0058	28	c.849 others(47): Show c.849+12918_849+12919insGTCTGTCTTTCTTTCTTTCTTTCTTT CT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152297051	A A	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAAAGAAAGACAGAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	172	0.0058	28	c.849 others(47): Show c.849+12914_849+12915insCTCTGTCTTTCTTTCTTTCTTTCTTT CT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152297051	A A	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAAAGACAGACAGAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0009 a0004c0008t0003g0009	1	172	0.0058	28	c.849 others(47): Show c.849+12914_849+12915insCTCTGTCTGTCTTTCTTTCTTTCTTT CT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152308673	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0074 a0002c0002t0002g0074	1	172	0.0058	28	c.849 others(45): Show c.849+1292_849+1293insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58			chr7	TogoVar
KMT2E_chr7_105009205_105120019	105050665	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19003.hp2 NA19010.hp1 others(2): Show NA18999.hp2 NA19003.hp2 NA19010.hp1 NA19057.hp1 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0008 a0001c0002t0003g0009 a0001c0002t0003g0010 others(2): Show a0001c0002t0003g0008 a0001c0002t0003g0009 a0001c0002t0003g0010 a0001c0002t0003g0011 a0001c0002t0003g0180	5	304	0.0165	28	c.71+ others(43): Show c.71+9667_71+9668insTTCTTTCTTTCTTTCTTTCTTTCTTTCT	KMT2E	ENSG00000005483.23	transcript	ENST00000311117.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
KMT2E_chr7_105009205_105120019	105071608	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	304	0.0033	28	c.498 others(45): Show c.498-2010_498-2009insATATATATATATATATATATATATATTT	KMT2E	ENSG00000005483.23	transcript	ENST00000311117.8	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
KMT2E_chr7_105009205_105120019	105074161	A A	ATGGAGAT others(21): Show ATGGAGATTTGGATTGTTTTCATTATTTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03041.hp1 HG02451.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0178 a0001c0002t0006g0179 a0001c0002t0006g0178 a0001c0002t0006g0179	2	304	0.0066	28	c.557 others(43): Show c.557-479_557-452dupGAGATTTGGATTGTTTTCATTATTTCTG	KMT2E	ENSG00000005483.23	transcript	ENST00000311117.8	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
KMT2E_chr7_105009205_105120019	105110891	G G	GGGTTCCA others(21): Show GGGTTCCAAAGGACTTTAGGTTGAGTGCA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	304	0.0033	28	c.406 others(43): Show c.4068+25_4068+52dupGTTCCAAAGGACTTTAGGTTGAGTGCAG	KMT2E	ENSG00000005483.23	transcript	ENST00000311117.8	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
KNG1_chr3_186712359_186749410	186714209	G G	GGAAAGAA others(21): Show GGAAAGAAGGAAAGAAACAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0041 a0002c0002t0008g0041	1	430	0.0023	28	c.-33 others(39): Show c.-3334_-3333insGAAAGAAGGAAAGAAACAAAGAAAGAAA	KNG1	ENSG00000113889.14	transcript	ENST00000644859.2	protein_coding		3149		chr3	TogoVar
KNTC1_chr12_122522249_122631396	122541287	G G	GCCTGCCT others(21): Show GCCTGCCTGCCTGCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03139.hp2 HG03225.hp1 others(2): Show HG02647.hp1 HG03139.hp2 HG03225.hp1 HG03516.hp1 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0289 a0002c0003t0001g0293 a0002c0003t0001g0294 others(2): Show a0002c0003t0001g0289 a0002c0003t0001g0293 a0002c0003t0001g0294 a0002c0003t0001g0295 a0002c0003t0001g0296	5	320	0.0156	28	c.446 others(43): Show c.446-760_446-759insGCCTGCCTGCCTTCCTTCCTTCCTTCCT	KNTC1	ENSG00000184445.12	transcript	ENST00000333479.12	protein_coding	5/63		INFO_REALIGN_3_PRIME	chr12	TogoVar
KPNA1_chr3_122416902_122519939	122430515	A A	AGTGTGTG others(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01081.hp2 HG01070.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0158 a0001c0001t0002g0159	2	400	0.0050	28	c.125 others(47): Show c.1251-2827_1251-2800dupACACACACACACACACACACACACAC AC	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	12/13			chr3	TogoVar
KPNA1_chr3_122416902_122519939	122452564	G G	GGGAGGGA others(21): Show GGGAGGGAAGGAGGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01070.hp1 HG01071.hp1 others(18): Show HG00438.hp2 HG01070.hp1 HG01071.hp1 HG02015.hp2 HG02074.hp1 HG02280.hp2 HG02735.hp2 HG02738.hp2 HG03041.hp2 HG03239.hp1 HG03239.hp2 HG04115.hp2 NA18943.hp1 NA18956.hp2 NA18960.hp1 NA18964.hp1 NA18978.hp1 NA18994.hp2 NA19011.hp2 NA19062.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 others(1): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0001c0001t0035	a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0306 others(18): Show a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0306 a0001c0001t0003g0317 a0001c0001t0003g0325 a0001c0001t0003g0332 a0001c0001t0003g0340 a0001c0001t0003g0345 a0001c0001t0003g0359 a0001c0001t0003g0365 a0001c0001t0003g0366 a0001c0001t0003g0367 a0001c0001t0003g0369 a0001c0001t0003g0370 a0001c0001t0003g0371 a0001c0001t0009g0311 a0001c0001t0009g0351 a0001c0001t0013g0327 a0001c0001t0013g0364 a0001c0001t0013g0373 a0001c0001t0035g0342	21	400	0.0525	28	c.565 others(43): Show c.565-501_565-500insTTCCTTCCTTCCTTCCCTCCTTCCCTCC	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	6/13			chr3	TogoVar
KPNA7_chr7_99168572_99213115	99180742	C C	CGTCTGTG others(21): Show CGTCTGTGTCTCTCTCTCTCTCCCCGTCT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 NA18747.hp2 HG02896.hp2 HG02897.hp1 NA18747.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0007 a0001c0004 a0002c0007	a0001c0004t0001 a0002c0007t0001 a0001c0004t0001 a0002c0007t0001	a0001c0004t0001g0311 a0002c0007t0001g0267 a0002c0007t0001g0268 a0001c0004t0001g0311 a0002c0007t0001g0267 a0002c0007t0001g0268	3	334	0.0090	28	c.131 others(47): Show c.1317+1140_1317+1141insAGACGGGGAGAGAGAGAGAGACACAG AC	KPNA7	ENSG00000185467.8	transcript	ENST00000327442.7	protein_coding	9/10			chr7	TogoVar
KRAS_chr12_25200246_25255929	25202063	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG04184.hp2 HG03834.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0033 a0001c0001t0003g0026 a0001c0001t0003g0033	2	346	0.0058	28	c.78 others(39): Show c.7852_*7853insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	KRAS	ENSG00000133703.14	transcript	ENST00000256078.10	protein_coding		3182		chr12	TogoVar
KRBA1_chr7_149709951_149739575	149738230	A A	ATCTATAT others(21): Show ATCTATATCTATCTATCTATCTATCTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0162 a0006c0008t0003g0162	1	414	0.0024	28	c.41 others(39): Show c.4183_*4184insTCTATATCTATCTATCTATCTATCTATC	KRBA1	ENSG00000133619.18	transcript	ENST00000496259.6	protein_coding		3656		chr7	TogoVar
KRBA2_chr17_8353822_8381704	8374937	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18522.hp1 HG01109.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0211 a0001c0002t0102 a0001c0001t0211 a0001c0002t0102	a0001c0001t0211g0326 a0001c0002t0102g0201 a0001c0001t0211g0326 a0001c0002t0102g0201	2	388	0.0052	28	c.-21 others(43): Show c.-21+962_-21+963insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	KRBA2	ENSG00000184619.8	transcript	ENST00000396267.3	protein_coding	1/1			chr17	TogoVar
KRI1_chr19_10548085_10571010	10570547	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18981.hp2 NA18997.hp2 others(2): Show NA18950.hp1 NA18981.hp2 NA18997.hp2 NA19077.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0052 a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0052	5	406	0.0123	28	c.-45 others(39): Show c.-4549_-4548insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	KRI1	ENSG00000129347.21	transcript	ENST00000312962.12	protein_coding		4538		chr19	TogoVar
KRT10_chr17_40813117_40827614	40815562	T T	TCTATCTA others(21): Show TCTATCTATCTAGCTAGCTAGCTAGCTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0005 a0004c0004t0001g0005	1	426	0.0024	28	c.29 others(39): Show c.2913_*2914insCTAGCTAGCTAGCTAGCTAGATAGATAG	KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding		2554		chr17	TogoVar
KRT10_chr17_40813117_40827614	40815562	T T	TCTATCTA others(21): Show TCTATCTATCTATCTAGCTAGCTAGCTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00642.hp1 others(13): Show HG00099.hp1 HG00280.hp1 HG00642.hp1 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01175.hp1 HG01943.hp1 HG02698.hp1 HG02818.hp2 HG03239.hp2 HG03669.hp1 HG03710.hp2 HG04204.hp2 NA18906.hp1 NA20805.hp1	a0004 a0004	a0004c0004 a0004c0015 a0004c0019 a0004c0004 a0004c0015 a0004c0019	a0004c0004t0001 a0004c0015t0001 a0004c0019t0001 a0004c0004t0001 a0004c0015t0001 a0004c0019t0001	a0004c0004t0001g0005 a0004c0004t0001g0023 a0004c0015t0001g0017 others(1): Show a0004c0004t0001g0005 a0004c0004t0001g0023 a0004c0015t0001g0017 a0004c0019t0001g0022	16	426	0.0376	28	c.29 others(39): Show c.2913_*2914insCTAGCTAGCTAGCTAGATAGATAGATAG	KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding		2554		chr17	TogoVar
KRT10_chr17_40813117_40827614	40815562	T T	TCTATCTA others(21): Show TCTATCTATCTATCTATCTAGCTAGCTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0005 a0004c0004t0001g0005	1	426	0.0024	28	c.29 others(39): Show c.2913_*2914insCTAGCTAGCTAGATAGATAGATAGATAG	KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding		2554		chr17	TogoVar
KRT23_chr17_40917700_40942646	40937296	T T	TAAGAACA others(21): Show TAAGAACAAACCCTCAATTATAGATGTAA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	437	0.0023	28	c.-35 others(43): Show c.-351+22_-351+49dupTTACATCTATAATTGAGGGTTTGTTCTT	KRT23	ENSG00000108244.17	transcript	ENST00000209718.8	protein_coding	1/8			chr17	TogoVar
KRT39_chr17_40953417_40971948	40970522	A A	ATCTCTCT others(21): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01952.hp1 others(5): Show HG01069.hp1 HG01071.hp2 HG01952.hp1 HG01978.hp1 HG02293.hp2 HG02723.hp2 HG03540.hp2 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0002 a0002c0003t0002 a0002c0002t0002 a0002c0003t0002	a0002c0002t0002g0004 a0002c0002t0002g0029 a0002c0003t0002g0027 a0002c0002t0002g0004 a0002c0002t0002g0029 a0002c0003t0002g0027	8	423	0.0189	28	c.-36 others(39): Show c.-3667_-3666insGAGAGAGAGAGAGAGAGAGAGAGAGAGA	KRT39	ENSG00000196859.8	transcript	ENST00000355612.7	protein_coding		3575		chr17	TogoVar
KRT78_chr12_52832807_52853994	52842959	G G	GAGAGAGA others(21): Show GAGAGAGAAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02056.hp2 HG04199.hp2 others(6): Show HG01361.hp1 HG02056.hp2 HG04199.hp2 NA18965.hp1 NA18970.hp2 NA18973.hp1 NA18977.hp2 NA19012.hp1 NA19065.hp1	a0004 a0004	a0004c0004 a0004c0007 a0004c0004 a0004c0007	a0004c0004t0001 a0004c0004t0002 a0004c0007t0002 a0004c0004t0001 a0004c0004t0002 a0004c0007t0002	a0004c0004t0001g0113 a0004c0004t0001g0119 a0004c0004t0002g0037 others(4): Show a0004c0004t0001g0113 a0004c0004t0001g0119 a0004c0004t0002g0037 a0004c0004t0002g0112 a0004c0004t0002g0114 a0004c0004t0002g0115 a0004c0007t0002g0038	9	410	0.0220	28	c.104 others(47): Show c.1047+1133_1047+1134insTCCTTCCTTCCTTCCTTCCTTTCTCT CT	KRT78	ENSG00000170423.13	transcript	ENST00000304620.5	protein_coding	6/8			chr12	TogoVar
KRT78_chr12_52832807_52853994	52843008	A A	AGGAAGGA others(21): Show AGGAAGGAAGGAAGGAAGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0103 a0004c0004t0002g0103	1	410	0.0024	28	c.104 others(47): Show c.1047+1084_1047+1085insCTCCCTCCCTCCTTCCTTCCTTCCTT CC	KRT78	ENSG00000170423.13	transcript	ENST00000304620.5	protein_coding	6/8			chr12	TogoVar
KRTAP1-1_chr17_41035541_41046450	41035672	C C	CTTCTTTC others(21): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 NA18969.hp2 HG02083.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	403	0.0050	28	c.51 others(39): Show c.5191_*5192insAGAAAGAAAGAAAGAAAGAAAGAAAGAA	KRTAP1-1	ENSG00000188581.9	transcript	ENST00000306271.5	protein_coding		4868		chr17	TogoVar
KRTAP1-3_chr17_41028884_41039874	41035672	C C	CTTCTTTC others(21): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 NA18969.hp2 HG02083.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	435	0.0046	28	c.-85 others(37): Show c.-852_-851insAGAAAGAAAGAAAGAAAGAAAGAAAGAA	KRTAP1-3	ENSG00000221880.4	transcript	ENST00000344363.7	protein_coding		799		chr17	TogoVar
KRTAP10-10_chr21_44632356_44643455	44637351	A A	ACACACAC others(21): Show ACACACACTCACTCACACACTCACTCACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0018 a0018	a0018c0062 a0018c0062	a0018c0062t0001 a0018c0062t0001	a0018c0062t0001g0000 a0018c0062t0001g0000	1	438	0.0023	28	c.-67 others(35): Show c.-67_-66insCACACACTCACTCACACACTCACTCACT	KRTAP10-10	ENSG00000221859.2	transcript	ENST00000380095.2	protein_coding		4		chr21	TogoVar
KRTAP10-7_chr21_44595597_44607174	44599134	T T	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01952.hp2 HG02080.hp2 others(8): Show HG00738.hp1 HG01952.hp2 HG02080.hp2 NA18947.hp2 NA18960.hp1 NA18966.hp1 NA18971.hp1 NA18989.hp1 NA19060.hp1 NA19070.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	11	446	0.0247	28	c.-14 others(39): Show c.-1488_-1487insTCTCTCTCTCTCTCTCTCTCTCTCTCTC	KRTAP10-7	ENSG00000272804.3	transcript	ENST00000609664.2	protein_coding		1462		chr21	TogoVar
KRTAP10-7_chr21_44595597_44607174	44599172	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCAATGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02896.hp2 HG03225.hp1 HG02559.hp2 HG02896.hp2 HG03225.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0000 a0003c0005t0002g0000	3	446	0.0067	28	c.-14 others(39): Show c.-1450_-1449insTCTCTCTCTCTCTCTCTCTCTCAATGTA	KRTAP10-7	ENSG00000272804.3	transcript	ENST00000609664.2	protein_coding		1424		chr21	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310342	G G	GAAGAAAG others(21): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	421	0.0024	28	c.-10 others(39): Show c.-1090_-1089insTCTTTCTTTCTTTCTTTCTTTCTTTCTT	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1034		chr17	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310386	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG01081.hp1 NA18967.hp1 others(5): Show HG00438.hp2 HG01081.hp1 NA18967.hp1 NA18975.hp1 NA18999.hp1 NA19070.hp1 NA19079.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0000 a0003c0004t0001g0000 a0001c0001t0001g0000 a0003c0004t0001g0000	8	421	0.0190	28	c.-11 others(39): Show c.-1134_-1133insCTTTCTTTCTTTCTTTCCTTTCTTTCTT	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1078		chr17	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310389	G G	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAAAGGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	421	0.0024	28	c.-11 others(39): Show c.-1137_-1136insTTTCTTTCCTTTCTTTCTTTCTTTCTTT	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1081		chr17	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310389	G G	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG02109.hp1 NA18980.hp2 HG00323.hp1 HG02109.hp1 NA18980.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0016c0012 a0001c0001 a0016c0012	a0001c0001t0001 a0016c0012t0001 a0001c0001t0001 a0016c0012t0001	a0001c0001t0001g0000 a0016c0012t0001g0000 a0001c0001t0001g0000 a0016c0012t0001g0000	3	421	0.0071	28	c.-11 others(39): Show c.-1137_-1136insTTTCTTTCTTTCCTTTCTTTCTTTCTTT	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1081		chr17	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310389	G G	GAAAGAAA others(21): Show GAAAGAAAGAAAGGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG02559.hp1 NA18973.hp2 others(2): Show HG01975.hp2 HG02559.hp1 NA18973.hp2 NA18998.hp2 NA19082.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0000 a0003c0004t0001g0000 a0001c0001t0001g0000 a0003c0004t0001g0000	5	421	0.0119	28	c.-11 others(39): Show c.-1137_-1136insTTTCTTTCTTTCTTTCCTTTCTTTCTTT	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1081		chr17	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310389	G G	GAAAGGAA others(21): Show GAAAGGAAAGAAAGAAAGAAAGAAGGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01106.hp1 HG01261.hp2 others(4): Show HG00639.hp2 HG01106.hp1 HG01261.hp2 HG01928.hp2 HG01993.hp2 HG02004.hp2 NA19076.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0000 a0003c0004t0001g0000 a0001c0001t0001g0000 a0003c0004t0001g0000	7	421	0.0166	28	c.-11 others(39): Show c.-1137_-1136insTTTCCTTCTTTCTTTCTTTCTTTCCTTT	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1081		chr17	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310409	G G	GGAAAGAA others(21): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03831.hp2 NA18957.hp1 others(1): Show HG03017.hp1 HG03831.hp2 NA18957.hp1 NA19063.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0000 a0003c0004t0001g0000 a0001c0001t0001g0000 a0003c0004t0001g0000	4	421	0.0095	28	c.-11 others(39): Show c.-1157_-1156insTTTCTTTCTTTCTTTCTTTCTTTCTTTC	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1101		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310386	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG01081.hp1 NA18967.hp1 others(4): Show HG00438.hp2 HG01081.hp1 NA18967.hp1 NA18975.hp1 NA18999.hp1 NA19070.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0000 a0001c0003t0001g0000 a0001c0001t0001g0000 a0001c0003t0001g0000	7	413	0.0170	28	c.49 others(39): Show c.4946_*4947insCTTTCTTTCTTTCTTTCCTTTCTTTCTT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4525		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310389	G G	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAAAGGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	413	0.0024	28	c.49 others(39): Show c.4943_*4944insTTTCTTTCCTTTCTTTCTTTCTTTCTTT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4522		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310389	G G	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG02109.hp2 NA18980.hp1 HG00323.hp2 HG02109.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	413	0.0073	28	c.49 others(39): Show c.4943_*4944insTTTCTTTCTTTCCTTTCTTTCTTTCTTT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4522		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310389	G G	GAAAGAAA others(21): Show GAAAGAAAGAAAGGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG02559.hp1 NA18986.hp2 others(1): Show HG01975.hp2 HG02559.hp1 NA18986.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0000 a0001c0003t0001g0000 a0001c0001t0001g0000 a0001c0003t0001g0000	4	413	0.0097	28	c.49 others(39): Show c.4943_*4944insTTTCTTTCTTTCTTTCCTTTCTTTCTTT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4522		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310389	G G	GAAAGGAA others(21): Show GAAAGGAAAGAAAGAAAGAAAGAAGGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01106.hp1 HG01261.hp1 others(2): Show HG00639.hp1 HG01106.hp1 HG01261.hp1 HG01928.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0000 a0001c0003t0001g0000 a0001c0001t0001g0000 a0001c0003t0001g0000	5	413	0.0121	28	c.49 others(39): Show c.4943_*4944insTTTCCTTCTTTCTTTCTTTCTTTCCTTT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4522		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310409	G G	GGAAAGAA others(21): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03831.hp2 NA19063.hp2 HG03017.hp1 HG03831.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0000 a0001c0003t0001g0000 a0001c0001t0001g0000 a0001c0003t0001g0000	3	413	0.0073	28	c.49 others(39): Show c.4923_*4924insTTTCTTTCTTTCTTTCTTTCTTTCTTTC	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4502		chr17	TogoVar
KRTAP19-7_chr21_30555875_30566314	30562380	T T	TATATATA others(21): Show TATATATATATACATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01433.hp2 HG02523.hp1 others(3): Show HG01106.hp1 HG01433.hp2 HG02523.hp1 HG04199.hp1 NA18978.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	6	422	0.0142	28	c.-10 others(39): Show c.-1092_-1091insGTATATATATATATATGTATATATATAT	KRTAP19-7	ENSG00000244362.3	transcript	ENST00000334849.2	protein_coding		1067		chr21	TogoVar
KRTAP19-7_chr21_30555875_30566314	30562382	T T	TATATATA others(21): Show TATATATATACATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(84): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02273.hp1 HG02293.hp2 HG02698.hp1 HG02738.hp2 HG02818.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03654.hp2 HG03669.hp2 HG03831.hp2 HG03834.hp2 NA18522.hp1 NA18612.hp2 NA18941.hp2 NA18942.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18956.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18970.hp1 NA18972.hp2 NA18975.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18992.hp1 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19068.hp1 NA19078.hp1 NA19078.hp2 NA19089.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0000 a0003c0003t0001g0000 a0001c0001t0001g0000 a0003c0003t0001g0000	87	422	0.2062	28	c.-10 others(39): Show c.-1094_-1093insGTATATATATATATATATGTATATATAT	KRTAP19-7	ENSG00000244362.3	transcript	ENST00000334849.2	protein_coding		1069		chr21	TogoVar
KRTAP19-7_chr21_30555875_30566314	30562382	T T	TATATATA others(21): Show TATATATATATATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	422	0.0024	28	c.-10 others(39): Show c.-1094_-1093insGTGTATATATATATATATATATATATAT	KRTAP19-7	ENSG00000244362.3	transcript	ENST00000334849.2	protein_coding		1069		chr21	TogoVar
KRTAP19-7_chr21_30555875_30566314	30562384	T T	TATATATA others(21): Show TATATATACATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG03139.hp2 NA18955.hp2 HG01496.hp1 HG03139.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	422	0.0071	28	c.-10 others(39): Show c.-1096_-1095insGTATATATATATATATATATGTATATAT	KRTAP19-7	ENSG00000244362.3	transcript	ENST00000334849.2	protein_coding		1071		chr21	TogoVar
KRTAP19-7_chr21_30555875_30566314	30562394	T T	TATATACA others(21): Show TATATACACACATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	422	0.0024	28	c.-11 others(39): Show c.-1106_-1105insGTGTATATATATATATATGTGTGTATAT	KRTAP19-7	ENSG00000244362.3	transcript	ENST00000334849.2	protein_coding		1081		chr21	TogoVar
KRTAP2-1_chr17_41041541_41052316	41051006	A A	ATATATAT others(21): Show ATATATATAGTAAAATATATATAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01257.hp2 HG01258.hp1 others(1): Show HG00544.hp2 HG01257.hp2 HG01258.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0000 a0001c0005t0001g0000 a0001c0001t0001g0000 a0001c0005t0001g0000	4	407	0.0098	28	c.-37 others(39): Show c.-3740_-3739insATATATTATATATATTTTACTATATATA	KRTAP2-1	ENSG00000212725.4	transcript	ENST00000391419.3	protein_coding		3691		chr17	TogoVar
KRTAP2-1_chr17_41041541_41052316	41051090	T T	TTATATAT others(21): Show TTATATATAGTAAAATATATAATATATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	407	0.0025	28	c.-38 others(39): Show c.-3824_-3823insTAATATATTATATATTTTACTATATATA	KRTAP2-1	ENSG00000212725.4	transcript	ENST00000391419.3	protein_coding		3775		chr17	TogoVar

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Search Results (Total: 10000 hits)