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
KLK11_chr19_51017236_51031616	51020198	C C	CAGAGAGA others(25): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02818.hp2 homoSapiens_chm13v2.hp1 HG00735.hp2 HG02818.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0100 a0001c0001t0002g0017 a0001c0001t0001g0003 a0001c0001t0001g0100 a0001c0001t0002g0017	3	456	0.0066	32	c.23 others(43): Show c.2346_*2347insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	KLK11	ENSG00000167757.14	transcript	ENST00000453757.8	protein_coding		2037		chr19	TogoVar
KLK11_chr19_51017236_51031616	51031132	T T	TTTGACTT others(25): Show TTTGACTTTGAGTGGCATAACTCAAGAACTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	456	0.0022	32	c.-46 others(43): Show c.-4662_-4631dupGAAAGTTCTTGAGTTATGCCACTCAAAGTCAA	KLK11	ENSG00000167757.14	transcript	ENST00000453757.8	protein_coding		4517		chr19	TogoVar
KLK11_chr19_51017236_51031616	51031595	C C	CATACATA others(25): Show CATACATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG02809.hp2 others(1): Show HG01515.hp1 HG01517.hp1 HG02809.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0002g0017 a0001c0001t0002g0055 a0001c0001t0001g0006 a0001c0001t0002g0017 a0001c0001t0002g0055	4	456	0.0088	32	c.-50 others(43): Show c.-5094_-5093insATATATATATATATATATATATATATATGTAT	KLK11	ENSG00000167757.14	transcript	ENST00000453757.8	protein_coding		4980		chr19	TogoVar
KLK11_chr19_51017236_51031616	51031595	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG01099.hp2 others(14): Show HG00642.hp1 HG00733.hp2 HG01099.hp2 HG01169.hp1 HG01496.hp2 HG02027.hp2 HG02145.hp2 NA18947.hp1 NA18965.hp2 NA18986.hp1 NA18999.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19086.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0015 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0076 a0001c0001t0001g0117 a0001c0001t0002g0002 a0001c0001t0002g0004 a0002c0002t0001g0005 a0002c0002t0001g0010 a0003c0003t0001g0030	17	456	0.0373	32	c.-50 others(43): Show c.-5094_-5093insATATATATATATATATATATATATATATATAT	KLK11	ENSG00000167757.14	transcript	ENST00000453757.8	protein_coding		4980		chr19	TogoVar
KLK12_chr19_51024094_51040002	51031595	C C	CATACATA others(25): Show CATACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG02809.hp1 others(1): Show HG01515.hp1 HG01517.hp1 HG02809.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0050 a0001c0001t0002g0139 a0001c0001t0003g0102 a0001c0001t0002g0050 a0001c0001t0002g0139 a0001c0001t0003g0102	4	448	0.0089	32	c.457 others(47): Show c.457+280_457+281insATATATATATATATATATATATATATATGT AT	KLK12	ENSG00000186474.16	transcript	ENST00000684732.1	protein_coding	4/5			chr19	TogoVar
KLK12_chr19_51024094_51040002	51031595	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG01099.hp2 others(9): Show HG00642.hp1 HG00733.hp2 HG01099.hp2 HG01169.hp1 HG01496.hp2 HG02027.hp2 HG02145.hp1 NA18947.hp1 NA18965.hp1 NA18986.hp2 NA19057.hp1 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0003 a0001c0001t0002 a0002c0003t0003	a0001c0001t0002g0047 a0001c0001t0002g0054 a0001c0001t0002g0111 others(7): Show a0001c0001t0002g0047 a0001c0001t0002g0054 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0002c0003t0003g0105	12	448	0.0268	32	c.457 others(47): Show c.457+280_457+281insATATATATATATATATATATATATATATAT AT	KLK12	ENSG00000186474.16	transcript	ENST00000684732.1	protein_coding	4/5			chr19	TogoVar
KLK8_chr19_50991008_51006604	50991751	G G	GAAAAAAA others(25): Show GAAAAAAAAAAAAAAAACTCCATCTCAGGAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02738.hp1 NA18964.hp1 HG02148.hp2 HG02738.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0067 a0001c0001t0001g0142 a0001c0001t0001g0018 a0001c0001t0001g0067 a0001c0001t0001g0142	3	420	0.0071	32	c.43 others(43): Show c.4307_*4308insTTTTCCTGAGATGGAGTTTTTTTTTTTTTTTT	KLK8	ENSG00000129455.16	transcript	ENST00000695909.1	protein_coding		4256		chr19	TogoVar
KLK8_chr19_50991008_51006604	50991751	G G	GAAAAAAA others(25): Show GAAAAAAAAAAAAAAACTCCATCTCAGGAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01515.hp2 HG01952.hp2 others(7): Show HG01106.hp1 HG01515.hp2 HG01952.hp2 HG02055.hp1 HG02145.hp2 HG02559.hp1 HG03486.hp1 NA18940.hp1 NA18991.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0056 a0001c0001t0001g0066	10	420	0.0238	32	c.43 others(43): Show c.4307_*4308insTTTTTCCTGAGATGGAGTTTTTTTTTTTTTTT	KLK8	ENSG00000129455.16	transcript	ENST00000695909.1	protein_coding		4256		chr19	TogoVar
KLRB1_chr12_9589551_9612916	9607335	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	436	0.0023	32	c.85+ others(45): Show c.85+419_85+420insAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAG	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5			chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607335	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG01123.hp1 others(5): Show HG00642.hp1 HG01081.hp1 HG01123.hp1 HG01192.hp2 HG01361.hp1 HG03831.hp2 NA18948.hp1 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0098 a0002c0002t0001g0099 others(3): Show a0002c0002t0001g0006 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164	8	436	0.0184	32	c.85+ others(45): Show c.85+419_85+420insAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAG	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5			chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607335	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG04204.hp1 NA19056.hp1 HG02895.hp1 HG04204.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0095 a0002c0002t0001g0148 a0002c0002t0001g0080 a0002c0002t0001g0095 a0002c0002t0001g0148	3	436	0.0069	32	c.85+ others(45): Show c.85+419_85+420insAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAG	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5			chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607335	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02572.hp1 HG02080.hp2 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0092 a0002c0002t0001g0141 a0002c0002t0001g0092 a0002c0002t0001g0141	2	436	0.0046	32	c.85+ others(45): Show c.85+419_85+420insAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAG	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5			chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607335	C C	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTCCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG03669.hp2 HG03704.hp2 others(6): Show HG01516.hp1 HG03669.hp2 HG03704.hp2 NA18941.hp2 NA18967.hp1 NA19010.hp2 NA19085.hp2 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0050 a0001c0001t0002g0203 others(5): Show a0001c0001t0002g0029 a0001c0001t0002g0050 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208	9	436	0.0206	32	c.85+ others(45): Show c.85+419_85+420insAAAGAAAGGAAGAAAGAAAGAAAGAAAGAAAG	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5			chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607335	C C	CTTCTTTC others(25): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0184 a0002c0002t0001g0184	1	436	0.0023	32	c.85+ others(45): Show c.85+419_85+420insAAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAA	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5			chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607415	T T	TTCTTTCT others(25): Show TTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTTG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02486.hp1 HG02300.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0082 a0002c0002t0001g0083	2	436	0.0046	32	c.85+ others(45): Show c.85+339_85+340insCAAAAAGAAAAGAAAAGAAAAGAAAAGAAAGA	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5			chr12	TogoVar
KL_chr13_33011423_33071143	33069864	A A	AGGGGGGG others(25): Show AGGGGGGGGGGGGGGGGGCAGGGGCGGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0118	1	396	0.0025	32	c.56 others(43): Show c.5678_*5679insGGGGGGGGGGGGGGGGGCAGGGGCGGGGAGAG	KL	ENSG00000133116.8	transcript	ENST00000380099.4	protein_coding		3722		chr13	TogoVar
KMO_chr1_241527378_241600642	241549266	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGTCGGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03041.hp1 HG03486.hp2 others(1): Show HG01243.hp1 HG03041.hp1 HG03486.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0005 a0001c0002t0019 others(1): Show a0001c0001t0001 a0001c0002t0005 a0001c0002t0019 a0001c0005t0013	a0001c0001t0001g0334 a0001c0002t0005g0173 a0001c0002t0019g0329 others(1): Show a0001c0001t0001g0334 a0001c0002t0005g0173 a0001c0002t0019g0329 a0001c0005t0013g0384	4	422	0.0095	32	c.124 others(47): Show c.124+371_124+372insAAAGAAAGAAAGTCGGAAAGAAAGAAAGGA AG	KMO	ENSG00000117009.12	transcript	ENST00000366559.9	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KMT2C_chr7_152129925_152441003	152215688	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0078 a0002c0002t0002g0078	1	172	0.0058	32	c.371 others(51): Show c.3712+4834_3712+4835insGTGTGTATATATATATATATATATAT ATATAT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	23/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152215688	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01884.hp2 HG02071.hp2 others(6): Show HG01361.hp2 HG01884.hp2 HG02071.hp2 HG02523.hp2 HG03834.hp2 HG06807.hp2 NA18522.hp2 NA19010.hp1 NA20129.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0006 a0002c0002 a0002c0007 others(1): Show a0001c0006 a0002c0002 a0002c0007 a0014c0026	a0001c0006t0002 a0002c0002t0002 a0002c0007t0002 others(1): Show a0001c0006t0002 a0002c0002t0002 a0002c0007t0002 a0014c0026t0002	a0001c0006t0002g0097 a0001c0006t0002g0098 a0001c0006t0002g0099 others(6): Show a0001c0006t0002g0097 a0001c0006t0002g0098 a0001c0006t0002g0099 a0002c0002t0002g0019 a0002c0002t0002g0066 a0002c0007t0002g0022 a0002c0007t0002g0050 a0002c0007t0002g0051 a0014c0026t0002g0081	9	172	0.0523	32	c.371 others(51): Show c.3712+4834_3712+4835insGTGTATATATATATATATATATATAT ATATAT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	23/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152215688	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0053 a0002c0002t0002g0053	1	172	0.0058	32	c.371 others(51): Show c.3712+4834_3712+4835insGTATATATATATATATATATATATAT ATATAT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	23/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152235207	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0127 a0001c0006t0002g0127	1	172	0.0058	32	c.276 others(49): Show c.2769+609_2769+610insTATATATATATATATATATATATATATA TATA	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	16/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152296995	G G	GAGAAAGA others(25): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0006 a0010c0016t0006	a0010c0016t0006g0172 a0010c0016t0006g0172	1	172	0.0058	32	c.849 others(51): Show c.849+12970_849+12971insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152297031	A A	AAGAAAGA others(25): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGACAGAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0008 a0002c0007t0008	a0002c0007t0008g0021 a0002c0007t0008g0021	1	172	0.0058	32	c.849 others(51): Show c.849+12934_849+12935insGTCTGTCTTTCTTTCTTTCTTTCTTT CTTTCT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152385611	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	172	0.0058	32	c.162 others(51): Show c.162-26968_162-26937dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	1/58			chr7	TogoVar
KMT2E_chr7_105009205_105120019	105050665	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18989.hp2 NA19087.hp1 NA18977.hp1 NA18989.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0014 a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0014	3	304	0.0099	32	c.71+ others(47): Show c.71+9667_71+9668insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	KMT2E	ENSG00000005483.23	transcript	ENST00000311117.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
KNDC1_chr10_133155219_133231412	133182309	C C	CGTCCACT others(25): Show CGTCCACTCAGCCAGCCCAGGATGCAGGTGCAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp2 HG01071.hp1 others(24): Show HG00733.hp1 HG01069.hp2 HG01071.hp1 HG01243.hp1 HG01891.hp1 HG02145.hp1 HG02647.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp1	a0003 a0006 a0007 a0003 a0006 a0007	a0003c0011 a0003c0015 a0003c0032 others(5): Show a0003c0011 a0003c0015 a0003c0032 a0003c0034 a0006c0010 a0006c0019 a0007c0009 a0007c0047	a0003c0011t0001 a0003c0015t0002 a0003c0032t0010 others(7): Show a0003c0011t0001 a0003c0015t0002 a0003c0032t0010 a0003c0034t0011 a0006c0010t0001 a0006c0010t0026 a0006c0019t0005 a0007c0009t0001 a0007c0009t0002 a0007c0047t0001	a0003c0011t0001g0018 a0003c0011t0001g0022 a0003c0011t0001g0153 others(24): Show a0003c0011t0001g0018 a0003c0011t0001g0022 a0003c0011t0001g0153 a0003c0011t0001g0154 a0003c0011t0001g0210 a0003c0011t0001g0248 a0003c0011t0001g0249 a0003c0015t0002g0237 a0003c0032t0010g0308 a0003c0034t0011g0313 a0006c0010t0001g0019 a0006c0010t0001g0020 a0006c0010t0001g0021 a0006c0010t0001g0048 a0006c0010t0001g0105 a0006c0010t0001g0240 a0006c0010t0026g0017 a0006c0019t0005g0277 a0006c0019t0005g0278 a0007c0009t0001g0002 a0007c0009t0001g0047 a0007c0009t0001g0104 a0007c0009t0001g0130 a0007c0009t0001g0132 a0007c0009t0001g0133 a0007c0009t0002g0131 a0007c0047t0001g0002	27	332	0.0813	32	c.361 others(49): Show c.361-1014_361-1013insTGCAGGTGCATGTCCACTCAGCCAGCCC AGGA	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133190776	G G	GGAAAGCA others(25): Show GGAAAGCACTGTCATCTGCAGGTGGCCCAGGCC	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0029 a0029	a0029c0069 a0029c0069	a0029c0069t0002 a0029c0069t0002	a0029c0069t0002g0170 a0029c0069t0002g0170	1	332	0.0030	32	c.157 others(49): Show c.1575+966_1575+997dupAAGCACTGTCATCTGCAGGTGGCCCAGG CCGA	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133220114	T T	TGAGGAGG others(25): Show TGAGGAGGGGCTCAGGCGGCCGCGCGCCCAGGA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	332	0.0030	32	c.501 others(47): Show c.5018+21_5018+52dupCCGCGCGCCCAGGAGAGGAGGGGCTCAGGC GG	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133220210	A A	AGAGGAGG others(25): Show AGAGGAGGGGCTCAGGCGGGCGCGCGCCCAGGT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03209.hp1 HG03579.hp2 others(2): Show HG02965.hp2 HG03209.hp1 HG03579.hp2 NA18522.hp2 NA19043.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0026 a0006c0010t0001 a0006c0010t0026	a0006c0010t0001g0019 a0006c0010t0001g0020 a0006c0010t0001g0021 others(2): Show a0006c0010t0001g0019 a0006c0010t0001g0020 a0006c0010t0001g0021 a0006c0010t0001g0240 a0006c0010t0026g0017	5	332	0.0151	32	c.501 others(49): Show c.5018+116_5018+117insGCGCGCGCCCAGGTGAGGAGGGGCTCAG GCGG	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133220274	A A	AGAGGAGG others(25): Show AGAGGAGGGGCTCAGGCGGCCGCGCGCCCAGGT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02145.hp1 HG02615.hp1 others(6): Show HG00733.hp1 HG02145.hp1 HG02615.hp1 HG02818.hp2 HG02886.hp2 HG03139.hp1 NA18906.hp1 NA18906.hp2 NA20300.hp1	a0003 a0003	a0003c0011 a0003c0015 a0003c0034 a0003c0011 a0003c0015 a0003c0034	a0003c0011t0001 a0003c0015t0002 a0003c0015t0028 others(1): Show a0003c0011t0001 a0003c0015t0002 a0003c0015t0028 a0003c0034t0011	a0003c0011t0001g0018 a0003c0011t0001g0022 a0003c0011t0001g0153 others(6): Show a0003c0011t0001g0018 a0003c0011t0001g0022 a0003c0011t0001g0153 a0003c0011t0001g0154 a0003c0011t0001g0210 a0003c0011t0001g0248 a0003c0015t0002g0238 a0003c0015t0028g0109 a0003c0034t0011g0313	9	332	0.0271	32	c.501 others(49): Show c.5018+181_5018+212dupCCGCGCGCCCAGGTGAGGAGGGGCTCAG GCGG	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133220709	G G	GCGCGCGC others(25): Show GCGCGCGCCCAGGTGAGGAGGGGCTCAGGCGGC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02145.hp1 HG02818.hp2 others(4): Show HG00733.hp1 HG02145.hp1 HG02818.hp2 HG02886.hp2 HG03139.hp1 NA18906.hp1 NA20300.hp1	a0003 a0003	a0003c0011 a0003c0034 a0003c0011 a0003c0034	a0003c0011t0001 a0003c0034t0011 a0003c0011t0001 a0003c0034t0011	a0003c0011t0001g0018 a0003c0011t0001g0022 a0003c0011t0001g0153 others(4): Show a0003c0011t0001g0018 a0003c0011t0001g0022 a0003c0011t0001g0153 a0003c0011t0001g0154 a0003c0011t0001g0210 a0003c0011t0001g0248 a0003c0034t0011g0313	7	332	0.0211	32	c.501 others(49): Show c.5018+609_5018+610insTGAGGAGGGGCTCAGGCGGCCGCGCGCC CAGG	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133227483	G G	GCGCCATC others(25): Show GCGCCATCCACTCCCCGGCTCTGTCCCCCACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0016 a0016	a0016c0029 a0016c0029	a0016c0029t0021 a0016c0029t0021	a0016c0029t0021g0151 a0016c0029t0021g0151	1	332	0.0030	32	c.25 others(43): Show c.2593_*2594insCGCCATCCACTCCCCGGCTCTGTCCCCCACGC	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding		1072		chr10	TogoVar
KNTC1_chr12_122522249_122631396	122541287	G G	GCCTGCCT others(25): Show GCCTGCCTGCCTGCCTGCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0290 a0002c0003t0001g0290	1	320	0.0031	32	c.446 others(47): Show c.446-760_446-759insGCCTGCCTGCCTGCCTTCCTTCCTTCCTTC CT	KNTC1	ENSG00000184445.12	transcript	ENST00000333479.12	protein_coding	5/63		INFO_REALIGN_3_PRIME	chr12	TogoVar
KNTC1_chr12_122522249_122631396	122541287	G G	GCCTGCCT others(25): Show GCCTGCCTGCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0277 a0002c0003t0001g0277	1	320	0.0031	32	c.446 others(47): Show c.446-760_446-759insGCCTGCCTTCCTTCCTTCCTTCCTTCCTTC CT	KNTC1	ENSG00000184445.12	transcript	ENST00000333479.12	protein_coding	5/63		INFO_REALIGN_3_PRIME	chr12	TogoVar
KPNA1_chr3_122416902_122519939	122452564	G G	GGGAGGGA others(25): Show GGGAGGGAAGGAGGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0372 a0001c0001t0003g0372	1	400	0.0025	32	c.565 others(47): Show c.565-501_565-500insTTCCTTCCTTCCTTCCTTCCCTCCTTCCCT CC	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	6/13			chr3	TogoVar
KPNA1_chr3_122416902_122519939	122452564	G G	GGGAGGGA others(25): Show GGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03704.hp1 HG03669.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0310 a0001c0001t0022g0322 a0001c0001t0022g0310 a0001c0001t0022g0322	2	400	0.0050	32	c.565 others(47): Show c.565-501_565-500insTTCCTTCCTTCCCTCCTTCCCTCCCTCCCT CC	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	6/13			chr3	TogoVar
KPNA7_chr7_99168572_99213115	99181103	G G	GTCTCTCT others(25): Show GTCTCTCTCTCTCTCTCCGTCTGTGTCTCTCTC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04199.hp2 HG04115.hp2 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0080 a0001c0003t0001g0321 a0001c0003t0001g0080 a0001c0003t0001g0321	2	334	0.0060	32	c.131 others(49): Show c.1317+779_1317+780insGAGAGAGACACAGACGGAGAGAGAGAGA GAGA	KPNA7	ENSG00000185467.8	transcript	ENST00000327442.7	protein_coding	9/10			chr7	TogoVar
KPNA7_chr7_99168572_99213115	99181121	G G	GTCTCTCT others(25): Show GTCTCTCTCTCTCTCTCCGTCTGTGTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	334	0.0030	32	c.131 others(49): Show c.1317+761_1317+762insGAGAGAGACACAGACGGAGAGAGAGAGA GAGA	KPNA7	ENSG00000185467.8	transcript	ENST00000327442.7	protein_coding	9/10			chr7	TogoVar
KRBA1_chr7_149709951_149739575	149738224	A A	ATATATAT others(25): Show ATATATATATCTATATCTATCTATCTATCTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0032 a0006c0008t0003g0032	1	414	0.0024	32	c.41 others(43): Show c.4177_*4178insTATATATATCTATATCTATCTATCTATCTATC	KRBA1	ENSG00000133619.18	transcript	ENST00000496259.6	protein_coding		3650		chr7	TogoVar
KRBA2_chr17_8353822_8381704	8374937	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA18974.hp1 HG01358.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0090 a0001c0001t0014 a0001c0002t0090	a0001c0001t0014g0206 a0001c0002t0090g0097 a0001c0001t0014g0206 a0001c0002t0090g0097	2	388	0.0052	32	c.-21 others(47): Show c.-21+962_-21+963insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	KRBA2	ENSG00000184619.8	transcript	ENST00000396267.3	protein_coding	1/1			chr17	TogoVar
KREMEN1_chr22_29068035_29151820	29120626	A A	AGGAGAGG others(25): Show AGGAGAGGTGCTGACGGAAACAGAGGAAGGAGG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0052 a0003c0004t0052	a0003c0004t0052g0021 a0003c0004t0052g0021	1	368	0.0027	32	c.353 others(47): Show c.353-706_353-705insAAGGAGGGGAGAGGTGCTGACGGAAACAGA GG	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
KREMEN1_chr22_29068035_29151820	29120626	A A	AGGAGAGG others(25): Show AGGAGAGGTGCTGACGGGAAACAGAGGAAGGAG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	368	0.0027	32	c.353 others(47): Show c.353-715_353-714insGAAACAGAGGAAGGAGGGAGAGGTGCTGAC GG	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
KRT10_chr17_40813117_40827614	40815562	T T	TCTATCTA others(25): Show TCTATCTATCTATCTAGCTAGCTAGCTAGCTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 NA18997.hp2 HG03942.hp2 NA18997.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0005 a0004c0004t0001g0005	2	426	0.0047	32	c.29 others(43): Show c.2913_*2914insCTAGCTAGCTAGCTAGCTAGATAGATAGATAG	KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding		2554		chr17	TogoVar
KRT10_chr17_40813117_40827614	40815562	T T	TCTATCTA others(25): Show TCTATCTATCTATCTATCTAGCTAGCTAGCTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG02970.hp2 HG03516.hp1 HG00323.hp2 HG02970.hp2 HG03516.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0005 a0004c0004t0001g0005	3	426	0.0070	32	c.29 others(43): Show c.2913_*2914insCTAGCTAGCTAGCTAGATAGATAGATAGATAG	KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding		2554		chr17	TogoVar
KRT38_chr17_41431154_41445983	41443914	T T	TTCTTATC others(25): Show TTCTTATCAGGTTTTGCTAAGTTGGATAATAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01192.hp1 others(1): Show HG01168.hp2 HG01169.hp1 HG01192.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	4	432	0.0093	32	c.-29 others(43): Show c.-2994_-2993insGCTATTATCCAACTTAGCAAAACCTGATAAGA	KRT38	ENSG00000171360.4	transcript	ENST00000246646.4	protein_coding		2932		chr17	TogoVar
KRT39_chr17_40953417_40971948	40970522	A A	ATCTCTCT others(25): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	423	0.0024	32	c.-36 others(43): Show c.-3667_-3666insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	KRT39	ENSG00000196859.8	transcript	ENST00000355612.7	protein_coding		3575		chr17	TogoVar
KRT40_chr17_40972715_40989326	40974468	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTTTCTTTCTTTCTCTCTCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02970.hp2 HG03041.hp2 HG01243.hp1 HG02970.hp2 HG03041.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0025 a0004c0005t0002g0025	3	451	0.0067	32	c.37 others(43): Show c.3728_*3729insAAGAGAGAGAGAAAGAAAGAAAGAGAGAGAGA	KRT40	ENSG00000204889.11	transcript	ENST00000377755.9	protein_coding		3246		chr17	TogoVar
KRT78_chr12_52832807_52853994	52842959	G G	GAGAGAGA others(25): Show GAGAGAGAAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01943.hp1 NA18967.hp2 others(2): Show HG01255.hp2 HG01943.hp1 NA18967.hp2 NA19001.hp2 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0004 a0004c0007 a0004c0004 a0004c0007	a0004c0004t0001 a0004c0004t0002 a0004c0007t0002 a0004c0004t0001 a0004c0004t0002 a0004c0007t0002	a0004c0004t0001g0122 a0004c0004t0002g0109 a0004c0004t0002g0110 others(2): Show a0004c0004t0001g0122 a0004c0004t0002g0109 a0004c0004t0002g0110 a0004c0004t0002g0111 a0004c0007t0002g0125	5	410	0.0122	32	c.104 others(51): Show c.1047+1133_1047+1134insTCCTTCCTTCCTTCCTTCCTTCCTTT CTCTCT	KRT78	ENSG00000170423.13	transcript	ENST00000304620.5	protein_coding	6/8			chr12	TogoVar
KRT78_chr12_52832807_52853994	52842959	G G	GAGAGAGA others(25): Show GAGAGAGAGAGAAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01516.hp2 HG01517.hp1 others(2): Show HG01243.hp2 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01978.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0004 a0006c0005t0004	a0006c0005t0004g0016 a0006c0005t0004g0098 a0006c0005t0004g0016 a0006c0005t0004g0098	5	410	0.0122	32	c.104 others(51): Show c.1047+1133_1047+1134insTCCTTCCTTCCTTCCTTCCTTTCTCT CTCTCT	KRT78	ENSG00000170423.13	transcript	ENST00000304620.5	protein_coding	6/8			chr12	TogoVar
KRT78_chr12_52832807_52853994	52842959	G G	GAGAGAGA others(25): Show GAGAGAGAGAGAGAGAGAGAAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0005 a0003c0018t0005	a0003c0018t0005g0176 a0003c0018t0005g0176	1	410	0.0024	32	c.104 others(51): Show c.1047+1133_1047+1134insTCCTTCCTTCCTTTCTCTCTCTCTCT CTCTCT	KRT78	ENSG00000170423.13	transcript	ENST00000304620.5	protein_coding	6/8			chr12	TogoVar

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Search Results (Total: 10000 hits)