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
KIFAP3_chr1_169916329_170079695	169973105	G G	GTGTATAT others(29): Show GTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02055.hp2 HG02257.hp1 others(10): Show HG00621.hp2 HG02055.hp2 HG02257.hp1 HG02622.hp1 HG02735.hp2 HG03453.hp2 HG04228.hp1 HG06807.hp1 NA18964.hp1 NA19003.hp2 NA19030.hp1 NA19030.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0021 a0001c0001t0001g0057 a0001c0001t0001g0237 others(10): Show a0001c0001t0001g0021 a0001c0001t0001g0057 a0001c0001t0001g0237 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0363 a0001c0001t0001g0365 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0099 a0001c0001t0002g0112 a0001c0001t0002g0115	13	372	0.0350	36	c.189 others(53): Show c.1898-508_1898-507insTATATATATATATATATATATATATATA TATATACA	KIFAP3	ENSG00000075945.13	transcript	ENST00000361580.7	protein_coding	16/19			chr1	TogoVar
KIFAP3_chr1_169916329_170079695	169973105	G G	GTGTGTAT others(29): Show GTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	372	0.0027	36	c.189 others(53): Show c.1898-508_1898-507insTATATATATATATATATATATATATATA TATACACA	KIFAP3	ENSG00000075945.13	transcript	ENST00000361580.7	protein_coding	16/19			chr1	TogoVar
KIFAP3_chr1_169916329_170079695	169973105	G G	GTGTGTGT others(29): Show GTGTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03471.hp2 HG02486.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0287 a0001c0001t0001g0289	2	372	0.0054	36	c.189 others(53): Show c.1898-508_1898-507insTATATATATATATATATATATATATATA TACACACA	KIFAP3	ENSG00000075945.13	transcript	ENST00000361580.7	protein_coding	16/19			chr1	TogoVar
KIFAP3_chr1_169916329_170079695	169973122	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0350 a0001c0001t0001g0350	1	372	0.0027	36	c.189 others(53): Show c.1898-525_1898-524insTTATATATATATATATATATATATATAT ATATATAT	KIFAP3	ENSG00000075945.13	transcript	ENST00000361580.7	protein_coding	16/19			chr1	TogoVar
KIFBP_chr10_68983803_69021982	69008391	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	408	0.0025	36	c.790 others(51): Show c.790-449_790-448insAAAAAAAAAAAAAAAATATATATATATATA TATATA	KIFBP	ENSG00000198954.9	transcript	ENST00000361983.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIRREL3_chr11_126418358_127005770	126821329	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	114	0.0088	36	c.55+ others(55): Show c.55+179125_55+179126insTATATATATATATATATATATATATA TATATATATA	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KIRREL3_chr11_126418358_127005770	126821351	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03540.hp1 HG02895.hp1 HG02897.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0023 a0001c0004t0006 a0001c0001t0023 a0001c0004t0006	a0001c0001t0023g0003 a0001c0004t0006g0019 a0001c0004t0006g0020 a0001c0001t0023g0003 a0001c0004t0006g0019 a0001c0004t0006g0020	3	114	0.0263	36	c.55+ others(55): Show c.55+179103_55+179104insCATATATATATATATATATATATATA TATATATATA	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KIRREL3_chr11_126418358_127005770	126821351	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02809.hp1 others(2): Show HG01891.hp2 HG02055.hp1 HG02809.hp1 HG03195.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0012 a0001c0002t0007 a0001c0002t0040 others(2): Show a0001c0001t0012 a0001c0002t0007 a0001c0002t0040 a0001c0003t0034 a0001c0004t0001	a0001c0001t0012g0008 a0001c0002t0007g0045 a0001c0002t0040g0035 others(2): Show a0001c0001t0012g0008 a0001c0002t0007g0045 a0001c0002t0040g0035 a0001c0003t0034g0041 a0001c0004t0001g0040	5	114	0.0439	36	c.55+ others(55): Show c.55+179103_55+179104insCACATATATATATATATATATATATA TATATATATA	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KIRREL3_chr11_126418358_127005770	126821351	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0083 a0001c0004t0014g0083	1	114	0.0088	36	c.55+ others(55): Show c.55+179103_55+179104insCACACATATATATATATATATATATA TATATATATA	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KISS1_chr1_204185341_204201491	204200299	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	400	0.0025	36	c.-39 others(47): Show c.-3963_-3962insTATATATATATATATATATATATATATATATATA TA	KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding		3809		chr1	TogoVar
KISS1_chr1_204185341_204201491	204200299	G G	GTGTATAT others(29): Show GTGTATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0002 a0000c0002t0002	a0000c0002t0002g0001 a0000c0002t0002g0001	1	400	0.0025	36	c.-39 others(47): Show c.-3963_-3962insTATATATATATATATATATATATATATATATATA CA	KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding		3809		chr1	TogoVar
KISS1_chr1_204185341_204201491	204200299	G G	GTGTGTGT others(29): Show GTGTGTGTGTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02809.hp2 HG02723.hp1 HG02809.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0017 a0002c0003t0008 a0001c0001t0017 a0002c0003t0008	a0001c0001t0017g0093 a0002c0003t0008g0015 a0001c0001t0017g0093 a0002c0003t0008g0015	2	400	0.0050	36	c.-39 others(47): Show c.-3963_-3962insTATATATATATATATATATATATATATACACACA CA	KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding		3809		chr1	TogoVar
KISS1_chr1_204185341_204201491	204200299	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0090 a0002c0003t0008g0090	1	400	0.0025	36	c.-39 others(47): Show c.-3963_-3962insTATATATATATATATATATATATATACACACACA CA	KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding		3809		chr1	TogoVar
KLF11_chr2_10038550_10059836	10043222	G G	GCCGCCCC others(29): Show GCCGCCCCCGCCGCCCCCTCCGCCCCCGCCGCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01069.hp2 HG01071.hp1 others(4): Show HG00099.hp2 HG01069.hp2 HG01071.hp1 HG02083.hp1 HG02300.hp1 HG03239.hp2 HG04228.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0018 a0002c0003t0005g0030 a0002c0003t0005g0159 others(1): Show a0002c0003t0005g0018 a0002c0003t0005g0030 a0002c0003t0005g0159 a0002c0003t0005g0160	7	414	0.0169	36	c.-49 others(45): Show c.-495_-494insCCGCCCCCGCCGCCCCCTCCGCCCCCGCCGCCCCCT	KLF11	ENSG00000172059.11	transcript	ENST00000305883.6	protein_coding		327		chr2	TogoVar
KLF12_chr13_73681089_74139404	73738056	T T	TATATATA others(29): Show TATATATATATATACACACACATATATGTATGTGTAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA19030.hp2 HG03579.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0040 a0001c0002t0015 a0001c0001t0040 a0001c0002t0015	a0001c0001t0040g0105 a0001c0002t0015g0003 a0001c0001t0040g0105 a0001c0002t0015g0003	2	120	0.0167	36	c.870 others(55): Show c.870-22567_870-22532dupGTACACATACATATATGTGTGTGTAT ATATATATAT	KLF12	ENSG00000118922.19	transcript	ENST00000703967.1	protein_coding	6/7			chr13	TogoVar
KLF15_chr3_126337635_126362408	126341337	C C	CACAGAAG others(29): Show CACAGAAGGTGCATATGCTCCCGAGGTTATTCCACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0051 a0001c0001t0074g0051	1	382	0.0026	36	c.23 others(47): Show c.2389_*2390insACGTGGAATAACCTCGGGAGCATATGCACCTTCT GT	KLF15	ENSG00000163884.4	transcript	ENST00000296233.4	protein_coding		1297		chr3	TogoVar
KLF7_chr2_207069137_207170948	207071139	G G	GAACCTGG others(29): Show GAACCTGGAATTAAGGCCTTCCTGGAGCATGCTAGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0137 a0001c0001t0015g0137	1	318	0.0031	36	c.10 others(49): Show c.10073_*10074insGACTAGCATGCTCCAGGAAGGCCTTAATTCCA GGTT	KLF7	ENSG00000118263.16	transcript	ENST00000309446.11	protein_coding		2997		chr2	TogoVar
KLF7_chr2_207069137_207170948	207099551	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02055.hp1 HG03540.hp2 others(2): Show HG01167.hp1 HG02055.hp1 HG03540.hp2 NA18957.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0010 a0001c0001t0027 others(2): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0027 a0001c0001t0033 a0001c0002t0002	a0001c0001t0003g0269 a0001c0001t0010g0112 a0001c0001t0027g0160 others(2): Show a0001c0001t0003g0269 a0001c0001t0010g0112 a0001c0001t0027g0160 a0001c0001t0033g0312 a0001c0002t0002g0210	5	318	0.0157	36	c.734 others(55): Show c.734-10971_734-10970insATATATATATATATATATATATATAT ATATATATAT	KLF7	ENSG00000118263.16	transcript	ENST00000309446.11	protein_coding	2/3			chr2	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAA others(29): Show AAAAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 NA18962.hp2 NA20752.hp1 HG00609.hp2 NA18962.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0155 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0155	3	208	0.0144	36	c.22 others(47): Show c.2297_*2298insAAAAAAAAAAATATATATATATATATATATATAT AT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAA others(29): Show AAAAAAAAAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01167.hp1 HG01361.hp2 others(3): Show HG00621.hp2 HG01167.hp1 HG01361.hp2 HG01516.hp2 HG01981.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0053 a0001c0001t0001g0054 others(3): Show a0001c0001t0001g0034 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0144 a0001c0001t0001g0158	6	208	0.0289	36	c.22 others(47): Show c.2297_*2298insAAAAAAAAATATATATATATATATATATATATAT AT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAA others(29): Show AAAAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01975.hp1 HG02071.hp2 others(6): Show HG01515.hp2 HG01975.hp1 HG02071.hp2 HG02083.hp2 HG02486.hp1 HG03017.hp2 HG03688.hp1 HG03831.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0049 a0001c0001t0001g0060 a0001c0001t0001g0063 others(6): Show a0001c0001t0001g0049 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0148 a0001c0007t0001g0135	9	208	0.0433	36	c.22 others(47): Show c.2297_*2298insAAAAAAATATATATATATATATATATATATATAT AT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAATA others(29): Show AAAAAATATATACATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	208	0.0048	36	c.22 others(47): Show c.2297_*2298insAAAAATATATACATATATATATATATATATATAT AT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01081.hp2 HG00280.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0070 a0001c0001t0001g0051 a0001c0001t0001g0070	2	208	0.0096	36	c.22 others(47): Show c.2297_*2298insAAAAATATATATATATATATATATATATATATAT AT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHL13_chrX_117892813_118121810	117962041	A A	AAATAATA others(29): Show AAATAATAATAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19030.hp1 HG02615.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0166 a0001c0002t0001g0196 a0001c0002t0001g0166 a0001c0002t0001g0196	2	207	0.0097	36	c.51- others(53): Show c.51-16467_51-16466insATTATTATTATTATTATTATTATTATTA TTATTATT	KLHL13	ENSG00000003096.15	transcript	ENST00000540167.6	protein_coding	2/7			chrX	TogoVar
KLHL13_chrX_117892813_118121810	118099919	A A	AAAGGAAG others(29): Show AAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0166 a0001c0002t0001g0166	1	207	0.0048	36	c.-25 others(55): Show c.-25+16588_-25+16589insCCTTCCTTCCTTCCTTCCTTCCTTTC TTCCTTCCTT	KLHL13	ENSG00000003096.15	transcript	ENST00000540167.6	protein_coding	1/7			chrX	TogoVar
KLHL14_chr18_32667673_32778023	32773926	G G	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	204	0.0049	36	c.-13 others(47): Show c.-1304_-1303insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	KLHL14	ENSG00000197705.10	transcript	ENST00000359358.9	protein_coding		904		chr18	TogoVar
KLHL17_chr1_955584_970719	970374	G G	GAAAAGTT others(29): Show GAAAAGTTGTGCATTACGCCAAGGTCCAGCTGCGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0003 a0001c0004t0004g0003	1	432	0.0023	36	c.51 others(47): Show c.5183_*5184insAAAAGTTGTGCATTACGCCAAGGTCCAGCTGCGG TT	KLHL17	ENSG00000187961.15	transcript	ENST00000338591.8	protein_coding		4656		chr1	TogoVar
KLHL18_chr3_47277944_47351816	47316721	G G	GTATATAT others(29): Show GTATATATGTGTATATATACACATATATACGTATATA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	338	0.0030	36	c.130 others(53): Show c.130-2931_130-2930insATATATGTGTATATATACACATATATAC GTATATAT	KLHL18	ENSG00000114648.12	transcript	ENST00000232766.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
KLHL1_chr13_69695597_70113452	70024620	T T	TTCTCTCT others(29): Show TTCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG04228.hp2 NA19085.hp2 HG01433.hp2 HG04228.hp2 NA19085.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0019 a0001c0002t0002 a0003c0006t0005 a0001c0001t0019 a0001c0002t0002 a0003c0006t0005	a0001c0001t0019g0131 a0001c0002t0002g0108 a0003c0006t0005g0005 a0001c0001t0019g0131 a0001c0002t0002g0108 a0003c0006t0005g0005	3	182	0.0165	36	c.498 others(55): Show c.498-48819_498-48818insGAGAGAGAGAAAGAGAGAAAGAGAGA GAGAGAGAGA	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	1/10			chr13	TogoVar
KLHL1_chr13_69695597_70113452	70024620	T T	TTCTCTCT others(29): Show TTCTCTCTCTCTCTTTCTCTCTTTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0135 a0001c0003t0011g0135	1	182	0.0055	36	c.498 others(55): Show c.498-48819_498-48818insGAGAGAGAGAGAGAAAGAGAGAAAGA GAGAGAGAGA	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	1/10			chr13	TogoVar
KLHL23_chr2_169728832_169756878	169740766	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0063 a0001c0001t0024g0063	1	400	0.0025	36	c.121 others(53): Show c.1214-593_1214-592insTATATATATATATATATATATATATATA TATATATA	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL23_chr2_169728832_169756878	169749913	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0142 a0001c0001t0142	a0001c0001t0142g0226 a0001c0001t0142g0226	1	400	0.0025	36	c.19 others(45): Show c.199_*200insTATATATATATATATATATATATATATATATATATA	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	200	INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL23_chr2_169728832_169756878	169749986	C C	CGCATGTA others(29): Show CGCATGTATGTATACATATATGTGTGTATATACGCAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0103 a0001c0005t0103	a0001c0005t0103g0309 a0001c0005t0103g0309	1	400	0.0025	36	c.25 others(45): Show c.255_*256insCATGTATGTATACATATATGTGTGTATATACGCATG	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	256	INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL23_chr2_169728832_169756878	169753123	A A	ATATATAT others(29): Show ATATATATATATCTATATATATATCTATATATATATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0254 a0001c0001t0005g0254	1	400	0.0025	36	c.33 others(47): Show c.3391_*3392insTATATATATATCTATATATATATCTATATATATA TC	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding		1246		chr2	TogoVar
KLHL23_chr2_169728832_169756878	169753135	A A	ATATATAT others(29): Show ATATATATATATCTATATATATATCTATATATATATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0170 a0001c0002t0005g0170	1	400	0.0025	36	c.34 others(47): Show c.3403_*3404insTATATATATATCTATATATATATCTATATATATA TC	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding		1258		chr2	TogoVar
KLHL23_chr2_169728832_169756878	169753171	C C	CTATATAT others(29): Show CTATATATCTATATATATATATCTATATATATATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0186 a0001c0002t0003g0186	1	400	0.0025	36	c.34 others(47): Show c.3439_*3440insTATATATCTATATATATATATCTATATATATATC TA	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding		1294		chr2	TogoVar
KLHL28_chr14_44919324_44966947	44935890	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01106.hp2 HG01261.hp1 others(10): Show HG00099.hp2 HG01106.hp2 HG01261.hp1 HG01943.hp1 HG02071.hp1 HG02071.hp2 HG02135.hp1 HG02155.hp1 HG02559.hp2 HG02647.hp1 NA18952.hp2 NA19030.hp2 NA19066.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0007 a0001c0001 a0002c0002 a0007c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 a0002c0002t0001 a0007c0007t0001	a0001c0001t0001g0008 a0001c0001t0001g0045 a0001c0001t0001g0059 others(7): Show a0001c0001t0001g0008 a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0129 a0001c0001t0003g0013 a0001c0001t0003g0124 a0001c0001t0006g0091 a0001c0001t0015g0052 a0002c0002t0001g0122 a0007c0007t0001g0080	13	224	0.0580	36	c.900 others(53): Show c.900-1333_900-1332insTATATATATATATATATATATATATATA TATATATA	KLHL28	ENSG00000179454.14	transcript	ENST00000396128.9	protein_coding	2/4			chr14	TogoVar
KLHL29_chr2_23380179_23713606	23670917	G G	GCGCGCGC others(29): Show GCGCGCGCACTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0131 a0001c0001t0004g0131	1	160	0.0063	36	c.941 others(55): Show c.941-13481_941-13480insGCGCGCACTCTCTCTCTCTCTCTCTC TCTCTCTCTC	KLHL29	ENSG00000119771.15	transcript	ENST00000486442.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL2_chr4_165202561_165328147	165264704	G G	GTGTGTAT others(29): Show GTGTGTATATATATATATATACATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	254	0.0039	36	c.544 others(53): Show c.544+1346_544+1347insGTGTATATATATATATATACATATATAT ATATATAT	KLHL2	ENSG00000109466.14	transcript	ENST00000226725.11	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
KLHL31_chr6_53642916_53670756	53665964	A A	AAAAGAAA others(29): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAGAAAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp1 NA19012.hp2 NA18991.hp1 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0010 a0001c0002t0004 a0001c0002t0010	a0001c0002t0004g0265 a0001c0002t0010g0244 a0001c0002t0004g0265 a0001c0002t0010g0244	2	420	0.0048	36	c.-39 others(45): Show c.-398_-397insCCTTCTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTT	KLHL31	ENSG00000124743.6	transcript	ENST00000370905.4	protein_coding		209		chr6	TogoVar
KLHL31_chr6_53642916_53670756	53666076	G G	GAAAGAGA others(29): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0054 a0001c0002t0022g0054	1	420	0.0024	36	c.-51 others(45): Show c.-510_-509insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTT	KLHL31	ENSG00000124743.6	transcript	ENST00000370905.4	protein_coding		321		chr6	TogoVar
KLHL31_chr6_53642916_53670756	53666076	G G	GAGAAAGA others(29): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 NA18966.hp2 NA19078.hp2 others(1): Show HG02896.hp2 NA18966.hp2 NA19078.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0084	a0001c0001t0005g0262 a0001c0001t0006g0120 a0001c0001t0014g0097 others(1): Show a0001c0001t0005g0262 a0001c0001t0006g0120 a0001c0001t0014g0097 a0001c0001t0084g0126	4	420	0.0095	36	c.-51 others(45): Show c.-510_-509insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	KLHL31	ENSG00000124743.6	transcript	ENST00000370905.4	protein_coding		321		chr6	TogoVar
KLHL33_chr14_20420852_20441166	20432926	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA18995.hp1 HG02738.hp2 NA18995.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0018 a0006c0006t0007 a0001c0001t0018 a0006c0006t0007	a0001c0001t0018g0226 a0006c0006t0007g0126 a0001c0001t0018g0226 a0006c0006t0007g0126	2	480	0.0042	36	c.748 others(53): Show c.748+2102_748+2137dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	KLHL33	ENSG00000185271.9	transcript	ENST00000636854.3	protein_coding	2/4			chr14	TogoVar
KLHL36_chr16_84643511_84672686	84643815	A A	AGTGGGGA others(29): Show AGTGGGGAGAACAATAGCATTGACCATAGGTTACTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0017 a0001c0013t0017	a0001c0013t0017g0079 a0001c0013t0017g0079	1	448	0.0022	36	c.-48 others(47): Show c.-4851_-4850insGTGGGGAGAACAATAGCATTGACCATAGGTTACT GT	KLHL36	ENSG00000135686.13	transcript	ENST00000564996.6	protein_coding		4695		chr16	TogoVar
KLHL3_chr5_137612500_137741089	137682403	T T	TAGAGAGA others(29): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02027.hp2 HG00735.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0090 a0001c0001t0001g0062 a0001c0001t0001g0090	2	252	0.0079	36	c.527 others(53): Show c.527-4750_527-4749insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCT	KLHL3	ENSG00000146021.15	transcript	ENST00000309755.9	protein_coding	5/14			chr5	TogoVar
KLHL4_chrX_87512802_87675050	87551608	T T	TAGATAGA others(29): Show TAGATAGATAGATAGATAGATAGATAGATAGATAGAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0093 a0001c0002t0003g0093	1	259	0.0039	36	c.422 others(55): Show c.422+33296_422+33297insTAGATAGATAGATAGATAGATAGATA GATAGAAAGA	KLHL4	ENSG00000102271.14	transcript	ENST00000373119.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
KLK11_chr19_51017236_51031616	51031595	C C	CATACATA others(29): Show CATACATACATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	456	0.0022	36	c.-50 others(47): Show c.-5094_-5093insATATATATATATATATATATATATATATGTATGT AT	KLK11	ENSG00000167757.14	transcript	ENST00000453757.8	protein_coding		4980		chr19	TogoVar
KLK11_chr19_51017236_51031616	51031595	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG02523.hp1 HG02523.hp2 others(3): Show HG00609.hp2 HG02523.hp1 HG02523.hp2 NA18957.hp1 NA19012.hp2 NA19062.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0002g0002 a0002c0002t0001g0010 a0001c0001t0001g0001 a0001c0001t0002g0002 a0002c0002t0001g0010	6	456	0.0132	36	c.-50 others(47): Show c.-5094_-5093insATATATATATATATATATATATATATATATATAT AT	KLK11	ENSG00000167757.14	transcript	ENST00000453757.8	protein_coding		4980		chr19	TogoVar
KLK11_chr19_51017236_51031616	51031610	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	456	0.0022	36	c.-51 others(47): Show c.-5109_-5108insCATATATATATATATATATATATATATATATATA TA	KLK11	ENSG00000167757.14	transcript	ENST00000453757.8	protein_coding		4995		chr19	TogoVar
KLK12_chr19_51024094_51040002	51031132	T T	TTTGACTT others(29): Show TTTGACTTTGAGTGGCTTTTTCTCTCTTTTTCTTATC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0099	1	448	0.0022	36	c.458 others(51): Show c.458-212_458-211insGATAAGAAAAAGAGAGAAAAAGCCACTCAA AGTCAA	KLK12	ENSG00000186474.16	transcript	ENST00000684732.1	protein_coding	4/5			chr19	TogoVar

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