Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KIF26B_chr1_245149985_245714432	245184050	G G	GTTTTTTG others(18): Show GTTTTTTGTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01071.hp1 HG03098.hp1 others(1): Show HG00738.hp1 HG01071.hp1 HG03098.hp1 HG03486.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0013 a0006c0015 a0001c0001 a0001c0013 a0006c0015	a0001c0001t0066 a0001c0013t0001 a0001c0013t0049 others(1): Show a0001c0001t0066 a0001c0013t0001 a0001c0013t0049 a0006c0015t0060	a0001c0001t0066g0009 a0001c0013t0001g0056 a0001c0013t0049g0153 others(1): Show a0001c0001t0066g0009 a0001c0013t0001g0056 a0001c0013t0049g0153 a0006c0015t0060g0004	4	160	0.0250	25	c.465 others(44): Show c.465+27373_465+27374insGTTTTTTTTTTTTTTTTTTTTTTTT	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245184050	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0016 a0016	a0016c0049 a0016c0049	a0016c0049t0006 a0016c0049t0006	a0016c0049t0006g0036 a0016c0049t0006g0036	1	160	0.0063	25	c.465 others(44): Show c.465+27386_465+27387insTTTTTTTTTTTTTTTTTTTTTTTTT	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245532218	T T	TTTTTCTT others(18): Show TTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03579.hp1 HG03041.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0038 a0001c0002 a0001c0038	a0001c0002t0043 a0001c0038t0006 a0001c0002t0043 a0001c0038t0006	a0001c0002t0043g0109 a0001c0038t0006g0147 a0001c0002t0043g0109 a0001c0038t0006g0147	2	160	0.0125	25	c.116 others(44): Show c.1167-8539_1167-8515dupCTTTTCTTTTCTTTTCTTTTCTTTT	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF2A_chr5_62301206_62396025	62389485	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0330 a0001c0001t0029g0330	1	370	0.0027	25	c.39 others(36): Show c.3932_*3933insAAAAAAAAAAAAAAAAAAAAAAAAA	KIF2A	ENSG00000068796.19	transcript	ENST00000407818.8	protein_coding	21/21	3933	INFO_REALIGN_3_PRIME	chr5	TogoVar
KIF3B_chr20_32272651_32340011	32299403	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0008 a0001c0001t0025g0008	1	242	0.0041	25	c.-65 others(44): Show c.-65-10309_-65-10308insATATATATATATATATATTTTTTTT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KIF3B_chr20_32272651_32340011	32299403	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01978.hp2 NA18980.hp2 others(1): Show HG01167.hp1 HG01978.hp2 NA18980.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0039 a0001c0002t0004 a0001c0002t0007 a0001c0001t0039 a0001c0002t0004 a0001c0002t0007	a0001c0001t0039g0002 a0001c0002t0004g0056 a0001c0002t0004g0071 others(1): Show a0001c0001t0039g0002 a0001c0002t0004g0056 a0001c0002t0004g0071 a0001c0002t0007g0076	4	242	0.0165	25	c.-65 others(44): Show c.-65-10309_-65-10308insATATATATATATATATTTTTTTTTT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KIF3B_chr20_32272651_32340011	32299403	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0004 a0001c0001t0009g0004	1	242	0.0041	25	c.-65 others(44): Show c.-65-10309_-65-10308insATATATATATATATTTTTTTTTTTT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KIF3B_chr20_32272651_32340011	32322792	A A	ATTTATAT others(18): Show ATTTATATATAATATTTATATATATT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0039 a0001c0002t0004g0039	1	242	0.0041	25	c.174 others(44): Show c.1749-3978_1749-3977insTTATATATAATATTTATATATATTT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KIF4A_chrX_70285104_70425886	70347974	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	259	0.0039	25	c.143 others(44): Show c.1431+4005_1431+4006insAAAAAAAAAAAAAAAAAAAAAAAAA	KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	13/30		INFO_REALIGN_3_PRIME	chrX	TogoVar
KIF5B_chr10_32004015_32061425	32006436	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18965.hp2 NA18988.hp1 others(2): Show NA18948.hp1 NA18965.hp2 NA18988.hp1 NA18994.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0025 a0001c0001t0001g0146 a0001c0001t0001g0151 others(2): Show a0001c0001t0001g0025 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0002g0002 a0001c0001t0002g0036	5	364	0.0137	25	c.51 others(36): Show c.5100_*5101insTTTTTTTTTTTTTTTTTTTTTTTTT	KIF5B	ENSG00000170759.11	transcript	ENST00000302418.5	protein_coding		2578		chr10	TogoVar
KIF5B_chr10_32004015_32061425	32007209	C C	CACACACC others(18): Show CACACACCCACTAGATAACTATACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	364	0.0028	25	c.43 others(36): Show c.4327_*4328insTTGTATAGTTATCTAGTGGGTGTGT	KIF5B	ENSG00000170759.11	transcript	ENST00000302418.5	protein_coding		1805		chr10	TogoVar
KIF6_chr6_39324990_39730408	39337155	T T	TTTTCCTT others(18): Show TTTTCCTTCCTTCCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02155.hp2 HG00438.hp1 HG02155.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0003 a0003c0003t0001g0115 a0001c0001t0001g0003 a0003c0003t0001g0115	2	174	0.0115	25	c.242 others(42): Show c.2429-608_2429-607insGAAAGAAAGAAAGGAAGGAAGGAAA	KIF6	ENSG00000164627.18	transcript	ENST00000287152.12	protein_coding	22/22			chr6	TogoVar
KIF6_chr6_39324990_39730408	39519703	C C	CAAACAAA others(18): Show CAAACAAAACAAAACAAAACAAAACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00642.hp1 others(29): Show HG00140.hp2 HG00597.hp1 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp2 HG01168.hp1 HG01358.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01978.hp2 HG02040.hp1 HG02055.hp2 HG02148.hp1 HG02258.hp2 HG02451.hp1 HG02622.hp2 HG02809.hp1 HG02897.hp1 HG02922.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp1 HG03492.hp2 HG03710.hp1 HG04204.hp2 NA18522.hp1 NA18906.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0001c0007 others(4): Show a0001c0001 a0001c0005 a0001c0007 a0001c0009 a0002c0002 a0002c0004 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(20): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0032 a0001c0005t0001 a0001c0005t0003 a0001c0005t0012 a0001c0005t0031 a0001c0007t0009 a0001c0009t0027 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0011 a0002c0002t0016 a0002c0002t0043 a0002c0004t0003 a0002c0004t0006 a0002c0004t0016 a0003c0003t0005 a0003c0003t0008 a0003c0003t0021	a0001c0001t0001g0105 a0001c0001t0001g0143 a0001c0001t0004g0048 others(29): Show a0001c0001t0001g0105 a0001c0001t0001g0143 a0001c0001t0004g0048 a0001c0001t0004g0087 a0001c0001t0004g0137 a0001c0001t0007g0082 a0001c0001t0010g0052 a0001c0001t0010g0083 a0001c0001t0032g0163 a0001c0005t0001g0075 a0001c0005t0003g0060 a0001c0005t0012g0036 a0001c0005t0031g0076 a0001c0007t0009g0098 a0001c0007t0009g0099 a0001c0009t0027g0144 a0002c0002t0001g0077 a0002c0002t0002g0168 a0002c0002t0002g0172 a0002c0002t0003g0088 a0002c0002t0011g0057 a0002c0002t0016g0167 a0002c0002t0043g0044 a0002c0004t0003g0071 a0002c0004t0006g0056 a0002c0004t0006g0063 a0002c0004t0006g0064 a0002c0004t0006g0070 a0002c0004t0016g0059 a0003c0003t0005g0173 a0003c0003t0008g0174 a0003c0003t0021g0134	32	174	0.1839	25	c.164 others(46): Show c.1645+20275_1645+20299dupTGTTTTGTTTTGTTTTGTTTTGTT T	KIF6	ENSG00000164627.18	transcript	ENST00000287152.12	protein_coding	13/22			chr6	TogoVar
KIF6_chr6_39324990_39730408	39648230	G G	GGGTGCCT others(18): Show GGGTGCCTCACCATGTTGGCCAGGCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02647.hp2 HG02818.hp1 HG01255.hp1 HG02647.hp2 HG02818.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0016 a0001c0001 a0007c0016	a0001c0001t0019 a0001c0001t0020 a0007c0016t0041 a0001c0001t0019 a0001c0001t0020 a0007c0016t0041	a0001c0001t0019g0086 a0001c0001t0020g0042 a0007c0016t0041g0043 a0001c0001t0019g0086 a0001c0001t0020g0042 a0007c0016t0041g0043	3	174	0.0172	25	c.252 others(42): Show c.252-8498_252-8474dupAGCCTGGCCAACATGGTGAGGCACC	KIF6	ENSG00000164627.18	transcript	ENST00000287152.12	protein_coding	3/22			chr6	TogoVar
KIFAP3_chr1_169916329_170079695	169928699	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02135.hp2 HG00280.hp1 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0318 a0001c0001t0001g0305 a0001c0001t0001g0318	2	372	0.0054	25	c.227 others(44): Show c.2274-6919_2274-6918insTTTTTTTTTTTTTTTTTTTTTTTTT	KIFAP3	ENSG00000075945.13	transcript	ENST00000361580.7	protein_coding	19/19			chr1	TogoVar
KIFBP_chr10_68983803_69021982	69008391	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03098.hp2 HG03486.hp1 HG02922.hp1 HG03098.hp2 HG03486.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0007 a0002c0002 a0004c0007	a0002c0002t0002 a0004c0007t0002 a0002c0002t0002 a0004c0007t0002	a0002c0002t0002g0237 a0002c0002t0002g0238 a0004c0007t0002g0241 a0002c0002t0002g0237 a0002c0002t0002g0238 a0004c0007t0002g0241	3	408	0.0074	25	c.790 others(40): Show c.790-449_790-448insAAAAATATATATATATATATATATA	KIFBP	ENSG00000198954.9	transcript	ENST00000361983.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIFBP_chr10_68983803_69021982	69008391	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0320 a0002c0002t0002g0320	1	408	0.0025	25	c.790 others(40): Show c.790-450_790-449insTATATATATATATATATATATATAT	KIFBP	ENSG00000198954.9	transcript	ENST00000361983.7	protein_coding	4/6			chr10	TogoVar
KIRREL3_chr11_126418358_127005770	126545610	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp2 HG03098.hp1 others(1): Show HG01891.hp2 HG02622.hp2 HG03098.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0012 a0001c0001t0014 a0001c0001t0045 others(1): Show a0001c0001t0012 a0001c0001t0014 a0001c0001t0045 a0001c0004t0020	a0001c0001t0012g0008 a0001c0001t0014g0037 a0001c0001t0045g0036 others(1): Show a0001c0001t0012g0008 a0001c0001t0014g0037 a0001c0001t0045g0036 a0001c0004t0020g0001	4	114	0.0351	25	c.133 others(44): Show c.133+17200_133+17224dupATTTTATTTTATTTTATTTTATTTT	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	2/16			chr11	TogoVar
KIRREL3_chr11_126418358_127005770	126923129	C C	CTCCTCCT others(18): Show CTCCTCCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0046 a0001c0001t0010g0046	1	114	0.0088	25	c.55+ others(42): Show c.55+77325_55+77326insAGAAGAAGAAGAAGAAGAAGGAGGA	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KIRREL3_chr11_126418358_127005770	126923129	C C	CTCCTTCT others(18): Show CTCCTTCTCCTTCTCCTTCTCCTTCT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	114	0.0088	25	c.55+ others(42): Show c.55+77325_55+77326insAGAAGGAGAAGGAGAAGGAGAAGGA	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KIRREL3_chr11_126418358_127005770	126923130	T T	TCCTTCTC others(18): Show TCCTTCTCCTTCTCCTTCTCCTTCTC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0098 a0001c0003t0001g0098	1	114	0.0088	25	c.55+ others(42): Show c.55+77324_55+77325insGAGAAGGAGAAGGAGAAGGAGAAGG	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KIRREL3_chr11_126418358_127005770	126923130	T T	TTCTCCTC others(18): Show TTCTCCTCCTTCTCCTTCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0031 a0001c0009t0031	a0001c0009t0031g0028 a0001c0009t0031g0028	1	114	0.0088	25	c.55+ others(42): Show c.55+77324_55+77325insGAGAAGGAGAAGGAGAAGGAGGAGA	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KLF12_chr13_73681089_74139404	74082163	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0023 a0001c0002t0027g0023	1	120	0.0083	25	c.-32 others(44): Show c.-32+51808_-32+51809insTTTTTTTTTTTTTTTTTTTTTTTTT	KLF12	ENSG00000118922.19	transcript	ENST00000703967.1	protein_coding	1/7			chr13	TogoVar
KLF15_chr3_126337635_126362408	126343153	C C	CCCCCCAC others(18): Show CCCCCCACCCCCCCACCCCCCCCCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0145 a0001c0001t0145	a0001c0001t0145g0102 a0001c0001t0145g0102	1	382	0.0026	25	c.57 others(34): Show c.573_*574insTGGGGGGGGGGTGGGGGGGTGGGGG	KLF15	ENSG00000163884.4	transcript	ENST00000296233.4	protein_coding	3/3	573		chr3	TogoVar
KLF15_chr3_126337635_126362408	126343153	C C	CCCCCCAC others(18): Show CCCCCCACCCCCCCCACCCCCCCCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0121 a0001c0001t0090g0121	1	382	0.0026	25	c.57 others(34): Show c.573_*574insTGGGGGGGGGTGGGGGGGGTGGGGG	KLF15	ENSG00000163884.4	transcript	ENST00000296233.4	protein_coding	3/3	573		chr3	TogoVar
KLF15_chr3_126337635_126362408	126343154	C C	CCCCCACC others(18): Show CCCCCACCCCCCCACCCCCCCCCCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02273.hp2 HG02738.hp1 HG02809.hp2 others(3): Show HG02273.hp2 HG02738.hp1 HG02809.hp2 NA18994.hp1 NA18998.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0136 a0001c0001t0016 a0001c0001t0136	a0001c0001t0016g0106 a0001c0001t0016g0133 a0001c0001t0016g0142 others(3): Show a0001c0001t0016g0106 a0001c0001t0016g0133 a0001c0001t0016g0142 a0001c0001t0016g0144 a0001c0001t0016g0213 a0001c0001t0136g0135	6	382	0.0157	25	c.57 others(34): Show c.572_*573insTGGGGGGGGGGGTGGGGGGGTGGGG	KLF15	ENSG00000163884.4	transcript	ENST00000296233.4	protein_coding	3/3	572		chr3	TogoVar
KLF15_chr3_126337635_126362408	126343155	C C	CCCCACCC others(18): Show CCCCACCCCCCCCCACCCCCCCCCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0133 a0001c0001t0133	a0001c0001t0133g0193 a0001c0001t0133g0193	1	382	0.0026	25	c.57 others(34): Show c.571_*572insTGGGGGGGGGGTGGGGGGGGGTGGG	KLF15	ENSG00000163884.4	transcript	ENST00000296233.4	protein_coding	3/3	571		chr3	TogoVar
KLF15_chr3_126337635_126362408	126343158	C C	CACCCCCC others(18): Show CACCCCCCCACCCCCCCCCCCACCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0134 a0001c0001t0134	a0001c0001t0134g0182 a0001c0001t0134g0182	1	382	0.0026	25	c.56 others(34): Show c.568_*569insTGGGTGGGGGGGGGGGTGGGGGGGT	KLF15	ENSG00000163884.4	transcript	ENST00000296233.4	protein_coding	3/3	568		chr3	TogoVar
KLF16_chr19_1847399_1868579	1856950	C C	CGGGGGGG others(18): Show CGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0112 a0001c0001t0007g0112	1	398	0.0025	25	c.458 others(42): Show c.458-2191_458-2190insCCCCCCCCCCCCCCCCCCCCCCCCC	KLF16	ENSG00000129911.9	transcript	ENST00000250916.6	protein_coding	1/1			chr19	TogoVar
KLF17_chr1_44113821_44140140	44127692	T T	TTTCTTTC others(18): Show TTTCTTTCTTTCTTTCTTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03471.hp2 HG02559.hp2 HG03471.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0249 a0004c0004t0004g0258 a0004c0004t0004g0249 a0004c0004t0004g0258	2	444	0.0045	25	c.82- others(40): Show c.82-1659_82-1658insCTTTCTTTCTTTCTTTTTCTTTCTT	KLF17	ENSG00000171872.5	transcript	ENST00000372299.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLF6_chr10_3770996_3790209	3773449	T T	TAAATACA others(18): Show TAAATACAAACACACACACACTTACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0089 a0001c0001t0063g0089	1	458	0.0022	25	c.60 others(36): Show c.6089_*6090insTGTAAGTGTGTGTGTGTTTGTATTT	KLF6	ENSG00000067082.15	transcript	ENST00000497571.6	protein_coding		2546		chr10	TogoVar
KLHDC10_chr7_130065534_130140705	130107843	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA19010.hp1 NA19088.hp1 NA18990.hp2 NA19010.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0200 a0001c0001t0002g0217 a0001c0001t0002g0182 a0001c0001t0002g0200 a0001c0001t0002g0217	3	386	0.0078	25	c.254 others(42): Show c.254-8578_254-8577insAAAAAAAAAAAAAAAAAAAAAAAAA	KLHDC10	ENSG00000128607.14	transcript	ENST00000335420.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
KLHDC10_chr7_130065534_130140705	130128889	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0068 a0001c0001t0004g0069	2	386	0.0052	25	c.980 others(40): Show c.980-547_980-546insAAAAAAAAAAAAATATATATATATA	KLHDC10	ENSG00000128607.14	transcript	ENST00000335420.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
KLHDC10_chr7_130065534_130140705	130128889	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0073 a0001c0001t0004g0073	1	386	0.0026	25	c.980 others(40): Show c.980-547_980-546insAAAAAAAAAAATATATATATATATA	KLHDC10	ENSG00000128607.14	transcript	ENST00000335420.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
KLHDC10_chr7_130065534_130140705	130128889	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0072 a0001c0001t0004g0072	1	386	0.0026	25	c.980 others(40): Show c.980-547_980-546insAAAAAAAAATATATATATATATATA	KLHDC10	ENSG00000128607.14	transcript	ENST00000335420.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
KLHDC10_chr7_130065534_130140705	130128889	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0084 a0001c0001t0004g0084	1	386	0.0026	25	c.980 others(40): Show c.980-547_980-546insAAAAATATATATATATATATATATA	KLHDC10	ENSG00000128607.14	transcript	ENST00000335420.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
KLHDC1_chr14_49688120_49758150	49693742	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02886.hp2 HG03471.hp1 others(3): Show HG02559.hp2 HG02886.hp2 HG03471.hp1 HG03516.hp1 HG03704.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 others(3): Show a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170	6	208	0.0289	25	c.96+ others(38): Show c.96+457_96+458insTTTTTTTTTTTTTTTTTTTTTTTTT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49693748	C C	CTTTTTCT others(18): Show CTTTTTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	208	0.0048	25	c.96+ others(38): Show c.96+463_96+464insCTTTTTTTTTTTTTTTTTTTTTTTT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49693748	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01358.hp1 HG01433.hp1 others(9): Show HG01070.hp2 HG01358.hp1 HG01433.hp1 HG01934.hp2 HG02004.hp2 HG02132.hp1 HG02717.hp2 HG03041.hp1 HG03139.hp2 HG03453.hp1 HG03831.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 others(9): Show a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100	12	208	0.0577	25	c.96+ others(38): Show c.96+474_96+475insTTTTTTTTTTTTTTTTTTTTTTTTT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	208	0.0048	25	c.22 others(36): Show c.2297_*2298insAAAAAAAATATATATATATATATAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	208	0.0048	25	c.22 others(36): Show c.2297_*2298insAAAAAATATATATATATATATATAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 NA18906.hp1 NA20752.hp2 HG01433.hp1 NA18906.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0027 a0001c0001t0001g0091 a0001c0001t0001g0092	3	208	0.0144	25	c.22 others(36): Show c.2297_*2298insAAAATATATATATATATATATATAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC2_chr14_49763153_49791385	49766569	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 NA18949.hp1 NA18985.hp1 HG01516.hp1 NA18949.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0048 a0001c0001t0001g0122 a0001c0001t0002g0002 a0001c0001t0001g0048 a0001c0001t0001g0122 a0001c0001t0002g0002	3	336	0.0089	25	c.-19 others(36): Show c.-1900_-1899insTTTTTTTTTTTTTTTTTTTTTTTTT	KLHDC2	ENSG00000165516.11	transcript	ENST00000298307.10	protein_coding		1583		chr14	TogoVar
KLHDC4_chr16_87702812_87770986	87704982	G G	GCGAGGAG others(18): Show GCGAGGAGGAGCTGTGGCCCTGCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0157 a0002c0002t0001g0157	1	380	0.0026	25	c.30 others(36): Show c.3070_*3094dupGCAGCAGGGCCACAGCTCCTCCTCG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding		2829		chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87718340	T T	TCCCTCTC others(18): Show TCCCTCTCCCTCCCCCTCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0004 a0007c0009t0004	a0007c0009t0004g0034 a0007c0009t0004g0034	1	380	0.0026	25	c.760 others(42): Show c.760-3768_760-3767insGAGAGGGAGAGGGGGAGGGAGAGGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	7/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87726633	G G	GCCGCGCC others(18): Show GCCGCGCCTCGCCCGTCTCCCCACCC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0200 a0002c0002t0002g0200	1	380	0.0026	25	c.759 others(40): Show c.759+131_759+132insGGGTGGGGAGACGGGCGAGGCGCGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	7/11			chr16	TogoVar
KLHL13_chrX_117892813_118121810	117991137	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02818.hp2 NA19240.hp1 others(1): Show HG02486.hp1 HG02818.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 others(1): Show a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002	a0001c0002t0001g0054 a0001c0002t0004g0001 a0001c0003t0001g0087 others(1): Show a0001c0002t0001g0054 a0001c0002t0004g0001 a0001c0003t0001g0087 a0001c0003t0002g0071	4	207	0.0193	25	c.50+ others(42): Show c.50+37286_50+37287insTTTTTTTTTTTTTTTTTTTTTTTTT	KLHL13	ENSG00000003096.15	transcript	ENST00000540167.6	protein_coding	2/7			chrX	TogoVar
KLHL14_chr18_32667673_32778023	32773926	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01346.hp2 HG02055.hp1 others(4): Show HG01071.hp1 HG01346.hp2 HG02055.hp1 HG02280.hp1 HG02970.hp2 HG03041.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0016 a0001c0001t0002g0024 a0001c0001t0003g0066 others(4): Show a0001c0001t0001g0016 a0001c0001t0002g0024 a0001c0001t0003g0066 a0001c0001t0005g0003 a0001c0001t0005g0052 a0001c0003t0001g0077 a0001c0003t0002g0078	7	204	0.0343	25	c.-13 others(36): Show c.-1304_-1303insAAAAAAAAAAAAAAAAAAAAAAAAA	KLHL14	ENSG00000197705.10	transcript	ENST00000359358.9	protein_coding		904		chr18	TogoVar
KLHL18_chr3_47277944_47351816	47324298	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	338	0.0030	25	c.401 others(42): Show c.401+1592_401+1616dupTTTTTTTTTTTTTTTTTTTTTTTTT	KLHL18	ENSG00000114648.12	transcript	ENST00000232766.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
KLHL1_chr13_69695597_70113452	69797758	G G	GGCGGCGC others(18): Show GGCGGCGCTTGCAGTGAGCAGAGATC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0023 a0005c0009t0023	a0005c0009t0023g0179 a0005c0009t0023g0179	1	182	0.0055	25	c.141 others(42): Show c.1415-821_1415-797dupGATCTCTGCTCACTGCAAGCGCCGC	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	6/10			chr13	TogoVar

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Search Results (Total: 8644 hits)