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
LINGO2_chr9_27932617_29218601	28506477	C C	CAGACATA others(19): Show CAGACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	62	0.0161	26	c.-31 others(47): Show c.-313-30453_-313-30452insATATATATATATATATATATATGT CT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	3/6			chr9	TogoVar
LINGO2_chr9_27932617_29218601	28797359	T T	TATATATA others(19): Show TATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0002 a0001c0001t0011g0002	1	62	0.0161	26	c.-39 others(49): Show c.-394-127080_-394-127079insCTCTCTCTCTCTCTCTCTATAT ATAT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6			chr9	TogoVar
LINGO2_chr9_27932617_29218601	28797359	T T	TATATATA others(19): Show TATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	62	0.0161	26	c.-39 others(49): Show c.-394-127080_-394-127079insCTCTCTCTATATATATATATAT ATAT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6			chr9	TogoVar
LINGO2_chr9_27932617_29218601	28884940	A A	ATATATAA others(19): Show ATATATAATATTTTATATATATAATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0059 a0001c0001t0005g0059	1	62	0.0161	26	c.-39 others(47): Show c.-395+62877_-395+62878insATATTATATATATAAAATATTATA TA	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6			chr9	TogoVar
LIPG_chr18_49557057_49604185	49558431	T T	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG02257.hp1 HG02559.hp2 others(4): Show HG01258.hp2 HG02257.hp1 HG02559.hp2 HG02809.hp1 HG02922.hp1 HG04184.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0024 a0001c0001t0055 a0001c0001t0106 others(2): Show a0001c0001t0024 a0001c0001t0055 a0001c0001t0106 a0002c0002t0009 a0002c0002t0028	a0001c0001t0024g0046 a0001c0001t0024g0047 a0001c0001t0024g0048 others(4): Show a0001c0001t0024g0046 a0001c0001t0024g0047 a0001c0001t0024g0048 a0001c0001t0055g0326 a0001c0001t0106g0144 a0002c0002t0009g0351 a0002c0002t0028g0343	7	384	0.0182	26	c.-38 others(37): Show c.-3878_-3877insTCTCTCTCTCTCTCTCTCTCTCTCTC	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding		3625		chr18	TogoVar
LIPG_chr18_49557057_49604185	49558431	T T	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTTTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0335 a0002c0002t0014g0335	1	384	0.0026	26	c.-38 others(37): Show c.-3878_-3877insTCTCTCTCTCTCTCTCTCTTTCTCTC	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding		3625		chr18	TogoVar
LIPG_chr18_49557057_49604185	49558463	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03471.hp2 HG01891.hp2 HG03471.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0032 a0007c0007t0026 a0001c0001t0032 a0007c0007t0026	a0001c0001t0032g0022 a0007c0007t0026g0007 a0001c0001t0032g0022 a0007c0007t0026g0007	2	384	0.0052	26	c.-38 others(37): Show c.-3846_-3845insTCTCTCTCTCTCTCTCTCTCTCTCCT	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding		3593		chr18	TogoVar
LIPG_chr18_49557057_49604185	49579009	G G	GGAGAGGG others(19): Show GGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0141 a0001c0001t0018g0141	1	384	0.0026	26	c.794 others(43): Show c.794-2402_794-2377dupAGGGAGAGGGAGAGGGAGAGGGAGAG	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LIPH_chr3_185501262_185557588	185528308	G G	GAAGAAAG others(19): Show GAAGAAAGAAAGAAGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0042 a0001c0001t0010g0042	1	358	0.0028	26	c.527 others(41): Show c.527-724_527-723insTCTTTCTTTCTTCTTCTTTCTTTCTT	LIPH	ENSG00000163898.10	transcript	ENST00000296252.9	protein_coding	3/9			chr3	TogoVar
LIPI_chr21_14103813_14215955	14213002	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0009 a0005c0004t0009	a0005c0004t0009g0021 a0005c0004t0009g0021	1	362	0.0028	26	c.-21 others(37): Show c.-2158_-2157insATATATATATATATATATATATATAT	LIPI	ENSG00000188992.12	transcript	ENST00000681601.1	protein_coding		2048		chr21	TogoVar
LIPI_chr21_14103813_14215955	14213002	G G	GATATATA others(19): Show GATATATATATATATATCCATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03225.hp2 HG06807.hp1 others(1): Show HG03130.hp1 HG03225.hp2 HG06807.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0002c0002t0009 a0001c0001t0008 a0002c0002t0009	a0001c0001t0008g0017 a0001c0001t0008g0018 a0001c0001t0008g0019 others(1): Show a0001c0001t0008g0017 a0001c0001t0008g0018 a0001c0001t0008g0019 a0002c0002t0009g0020	4	362	0.0111	26	c.-21 others(37): Show c.-2158_-2157insATATATATGGATATATATATATATAT	LIPI	ENSG00000188992.12	transcript	ENST00000681601.1	protein_coding		2048		chr21	TogoVar
LIPM_chr10_88797730_88825546	88822544	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01496.hp1 HG01516.hp2 others(6): Show HG00558.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG04204.hp2 NA18951.hp1 NA18977.hp2 NA18994.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0095 a0001c0001t0001g0214 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0095 a0001c0001t0001g0214 a0001c0002t0001g0001 a0001c0002t0001g0037 a0001c0002t0001g0124	9	462	0.0195	26	c.20 others(37): Show c.2043_*2044insTTTTTTTTTTTTTTTTTTTTTTTTTT	LIPM	ENSG00000173239.14	transcript	ENST00000404743.9	protein_coding		1999		chr10	TogoVar
LIPM_chr10_88797730_88825546	88823827	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	462	0.0022	26	c.33 others(37): Show c.3326_*3327insAAAAAAAAAAAAAAAAAAAAAAAAAA	LIPM	ENSG00000173239.14	transcript	ENST00000404743.9	protein_coding		3282		chr10	TogoVar
LIPT1_chr2_99149967_99168137	99165061	C C	CACACACA others(19): Show CACACACACACACACACACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	406	0.0025	26	c.19 others(37): Show c.1982_*1983insACACACACACACACACACACACATAT	LIPT1	ENSG00000144182.17	transcript	ENST00000651691.1	protein_coding		1925		chr2	TogoVar
LIPT1_chr2_99149967_99168137	99166858	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	406	0.0025	26	c.37 others(37): Show c.3779_*3780insATATATATATATATATATATATATAT	LIPT1	ENSG00000144182.17	transcript	ENST00000651691.1	protein_coding		3722		chr2	TogoVar
LMF1_chr16_848634_975984	911619	T T	TGGGGGGC others(19): Show TGGGGGGCAGCAATGGGGGGGCAGCAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0246 a0001c0023t0001g0246	1	294	0.0034	26	c.515 others(41): Show c.515-541_515-540insGTGCTGCCCCCCCATTGCTGCCCCCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	3/10			chr16	TogoVar
LMNA_chr1_156109711_156142866	156140160	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01243.hp1 HG01496.hp2 others(4): Show HG00639.hp1 HG01243.hp1 HG01496.hp2 HG01981.hp2 HG02273.hp1 HG03579.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0055 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0055 a0001c0001t0001g0090 a0001c0001t0001g0149	7	286	0.0245	26	c.23 others(37): Show c.2396_*2397insACACACACACACACACACACACACAC	LMNA	ENSG00000160789.24	transcript	ENST00000677389.1	protein_coding		2295		chr1	TogoVar
LMNA_chr1_156109711_156145081	156140160	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01496.hp2 HG01981.hp2 others(3): Show HG01243.hp1 HG01496.hp2 HG01981.hp2 HG02273.hp1 HG03579.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0055 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0055 a0001c0001t0001g0089 a0001c0001t0001g0146	6	286	0.0210	26	c.10 others(37): Show c.1054_*1055insACACACACACACACACACACACACAC	LMNA	ENSG00000160789.24	transcript	ENST00000368300.9	protein_coding		80		chr1	TogoVar
LMNB1_chr5_126772136_126842020	126787546	A A	ATATATAT others(19): Show ATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03041.hp2 HG02976.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0007 a0001c0001t0001 a0001c0006t0007	a0001c0001t0001g0206 a0001c0006t0007g0044 a0001c0001t0001g0206 a0001c0006t0007g0044	2	374	0.0054	26	c.359 others(43): Show c.359+9680_359+9681insATATATATATATATTTTTTTTTTTTT	LMNB1	ENSG00000113368.12	transcript	ENST00000261366.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
LMNB1_chr5_126772136_126842020	126787546	A A	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	374	0.0027	26	c.359 others(43): Show c.359+9680_359+9681insATATATATATATTTTTTTTTTTTTTT	LMNB1	ENSG00000113368.12	transcript	ENST00000261366.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
LMNB1_chr5_126772136_126842020	126800981	A A	ATATATAT others(19): Show ATATATATATATATATAATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA20300.hp2 HG03225.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0313 a0001c0001t0003g0312 a0001c0001t0001g0313 a0001c0001t0003g0312	2	374	0.0054	26	c.360 others(43): Show c.360-3795_360-3794insTATATATATATATATAATTTTTTTTT	LMNB1	ENSG00000113368.12	transcript	ENST00000261366.10	protein_coding	1/10			chr5	TogoVar
LMNB2_chr19_2423166_2461959	2450119	C C	CATATACA others(19): Show CATATACATATACATATACATATACAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	356	0.0028	26	c.265 others(43): Show c.265-5580_265-5579insATGTATATGTATATGTATATGTATAT	LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	1/11			chr19	TogoVar
LMNB2_chr19_2423166_2461959	2450119	C C	CATATACA others(19): Show CATATACATATACATATATATATACAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00673.hp2 others(44): Show HG00438.hp1 HG00438.hp2 HG00673.hp2 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp2 HG02258.hp2 HG02886.hp1 HG02897.hp2 HG03041.hp2 HG03486.hp1 HG03490.hp2 HG03704.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18954.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18999.hp2 NA19005.hp1 NA19010.hp1 NA19056.hp2 NA19063.hp2 NA19082.hp2 NA19085.hp1 NA20905.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0016 a0001c0001 a0009c0016	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0009c0016t0002	a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 others(41): Show a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0055 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0263 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0003g0084 a0001c0001t0004g0077 a0001c0001t0008g0089 a0001c0001t0012g0083 a0001c0001t0013g0091 a0001c0001t0013g0092 a0001c0001t0016g0080 a0009c0016t0002g0308	47	356	0.1320	26	c.265 others(43): Show c.265-5580_265-5579insATGTATATATATATGTATATGTATAT	LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	1/11			chr19	TogoVar
LMO7_chr13_75631330_75864866	75681718	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0195 a0003c0002t0001g0195	1	272	0.0037	26	c.70- others(43): Show c.70-31458_70-31433dupATATATATATATATATATATATATAT	LMO7	ENSG00000136153.20	transcript	ENST00000377534.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr13	TogoVar
LMO7_chr13_75631330_75864866	75776162	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0224 a0003c0002t0001g0224	1	272	0.0037	26	c.317 others(45): Show c.317+15142_317+15167dupTATATATATATATATATATATATATA	LMO7	ENSG00000136153.20	transcript	ENST00000377534.8	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr13	TogoVar
LMOD1_chr1_201891456_201951548	201947175	G G	GGAGAGAG others(19): Show GGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	400	0.0025	26	c.-83 others(35): Show c.-836_-835insTCTCTCTCTCTCTCTCTCTCTCTCTC	LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding		628		chr1	TogoVar
LMOD1_chr1_201891456_201951548	201947181	G G	GGAGAGAG others(19): Show GGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01192.hp1 HG02602.hp1 others(3): Show HG00438.hp1 HG01192.hp1 HG02602.hp1 NA18968.hp1 NA19000.hp2 NA19001.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0113 others(3): Show a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0113 a0001c0001t0001g0134 a0002c0002t0002g0039 a0002c0002t0002g0136	6	400	0.0150	26	c.-84 others(35): Show c.-842_-841insTCTCTCTCTCTCTCTCTCTCTCTCTC	LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding		634		chr1	TogoVar
LMOD1_chr1_201891456_201951548	201948342	A A	AAAGAAGA others(19): Show AAAGAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	400	0.0025	26	c.-20 others(37): Show c.-2003_-2002insCTTTCTTTCTTTCTTTCTTTCTTCTT	LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding		1795		chr1	TogoVar
LMOD1_chr1_201891456_201951548	201948342	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	400	0.0025	26	c.-20 others(37): Show c.-2003_-2002insCTTTCTTTCTTTCTTTCTTTCTTTCT	LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding		1795		chr1	TogoVar
LMOD3_chr3_69101065_69127595	69110853	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA19010.hp1 NA18985.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0042 a0001c0002t0041 a0001c0002t0042	a0001c0002t0041g0355 a0001c0002t0042g0356 a0001c0002t0041g0355 a0001c0002t0042g0356	2	428	0.0047	26	c.165 others(45): Show c.1657-1733_1657-1732insATATATATTTTTTTTTTTTTTTTTTT	LMOD3	ENSG00000163380.16	transcript	ENST00000420581.7	protein_coding	2/2			chr3	TogoVar
LMOD3_chr3_69101065_69127595	69110853	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03041.hp2 HG06807.hp1 others(1): Show HG02630.hp2 HG03041.hp2 HG06807.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0133 a0001c0001t0003 a0001c0001t0133	a0001c0001t0003g0070 a0001c0001t0003g0089 a0001c0001t0003g0243 others(1): Show a0001c0001t0003g0070 a0001c0001t0003g0089 a0001c0001t0003g0243 a0001c0001t0133g0318	4	428	0.0094	26	c.165 others(45): Show c.1657-1733_1657-1732insATATATATATTTTTTTTTTTTTTTTT	LMOD3	ENSG00000163380.16	transcript	ENST00000420581.7	protein_coding	2/2			chr3	TogoVar
LMX1A_chr1_165196867_165361715	165337888	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp1 HG02630.hp1 others(8): Show HG02280.hp2 HG02559.hp1 HG02630.hp1 HG02647.hp2 HG02965.hp1 HG03225.hp2 HG03471.hp1 HG03516.hp2 HG06807.hp2 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 others(5): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0020 a0001c0001t0026 a0001c0001t0029 a0001c0003t0004 a0001c0004t0007	a0001c0001t0004g0027 a0001c0001t0004g0029 a0001c0001t0004g0171 others(8): Show a0001c0001t0004g0027 a0001c0001t0004g0029 a0001c0001t0004g0171 a0001c0001t0004g0173 a0001c0001t0007g0170 a0001c0001t0012g0274 a0001c0001t0020g0221 a0001c0001t0026g0018 a0001c0001t0029g0172 a0001c0003t0004g0072 a0001c0004t0007g0118	11	288	0.0382	26	c.263 others(45): Show c.263+15187_263+15188insCACACACACACACACACACACACACA	LMX1A	ENSG00000162761.14	transcript	ENST00000342310.7	protein_coding	3/8			chr1	TogoVar
LNPK_chr2_175918882_176007267	175951584	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01169.hp1 HG01346.hp1 others(8): Show HG00609.hp1 HG01169.hp1 HG01346.hp1 HG01433.hp2 HG01981.hp2 HG02273.hp2 HG02280.hp1 HG02723.hp2 NA18999.hp1 NA19240.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 others(4): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0024 a0001c0001t0060 a0001c0001t0064	a0001c0001t0005g0099 a0001c0001t0005g0101 a0001c0001t0005g0108 others(8): Show a0001c0001t0005g0099 a0001c0001t0005g0101 a0001c0001t0005g0108 a0001c0001t0005g0110 a0001c0001t0006g0171 a0001c0001t0006g0181 a0001c0001t0010g0178 a0001c0001t0014g0346 a0001c0001t0024g0156 a0001c0001t0060g0170 a0001c0001t0064g0192	11	368	0.0299	26	c.494 others(43): Show c.494-3918_494-3893dupATATATATATATATATATATATATAT	LNPK	ENSG00000144320.14	transcript	ENST00000272748.9	protein_coding	8/12			chr2	TogoVar
LNX1_chr4_53454301_53596486	53492506	T T	TGAGAGAG others(19): Show TGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG01934.hp2 others(6): Show HG00544.hp2 HG00621.hp1 HG01934.hp2 HG02056.hp1 HG02135.hp2 HG02165.hp2 NA19009.hp2 NA19057.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0140 a0001c0001t0001g0245 a0001c0001t0001g0259 others(6): Show a0001c0001t0001g0140 a0001c0001t0001g0245 a0001c0001t0001g0259 a0001c0001t0001g0265 a0001c0001t0001g0291 a0001c0001t0002g0101 a0001c0001t0002g0296 a0001c0004t0001g0281 a0002c0003t0001g0244	9	356	0.0253	26	c.135 others(45): Show c.1350+3491_1350+3516dupTCTCTCTCTCTCTCTCTCTCTCTCTC	LNX1	ENSG00000072201.14	transcript	ENST00000263925.8	protein_coding	6/10			chr4	TogoVar
LNX1_chr4_53454301_53596486	53495548	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02004.hp2 NA18940.hp1 others(6): Show HG00423.hp1 HG02004.hp2 NA18940.hp1 NA18956.hp2 NA18969.hp1 NA18977.hp2 NA18984.hp2 NA19060.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0034 a0001c0001t0004g0047 others(6): Show a0001c0001t0004g0025 a0001c0001t0004g0034 a0001c0001t0004g0047 a0001c0001t0004g0129 a0001c0001t0004g0141 a0001c0001t0004g0202 a0001c0001t0004g0280 a0001c0001t0004g0282 a0001c0001t0004g0283	9	356	0.0253	26	c.135 others(43): Show c.1350+474_1350+475insAAAAAAAAAAAAAAAAAAAAAAAAAA	LNX1	ENSG00000072201.14	transcript	ENST00000263925.8	protein_coding	6/10			chr4	TogoVar
LNX1_chr4_53454301_53596486	53506856	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	356	0.0028	26	c.775 others(41): Show c.775+460_775+461insTTTTTTTTTTTTTTTTTTTTTTTTTT	LNX1	ENSG00000072201.14	transcript	ENST00000263925.8	protein_coding	4/10			chr4	TogoVar
LNX1_chr4_53454301_53596486	53529102	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0255 a0001c0001t0003g0255	1	356	0.0028	26	c.381 others(45): Show c.381-20901_381-20876dupGTGTGTGTGTGTGTGTGTGTGTGTGT	LNX1	ENSG00000072201.14	transcript	ENST00000263925.8	protein_coding	2/10			chr4	TogoVar
LNX2_chr13_27540913_27625529	27560565	G G	GCATATAT others(19): Show GCATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01358.hp2 NA18939.hp1 others(4): Show HG00673.hp1 HG01358.hp2 NA18939.hp1 NA18941.hp2 NA18959.hp1 NA18965.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0027 a0001c0001t0005g0032 a0001c0001t0005g0033 others(4): Show a0001c0001t0005g0027 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0036 a0001c0001t0005g0043 a0001c0001t0005g0044	7	358	0.0196	26	c.122 others(43): Show c.1225-581_1225-580insTATATATATATATATATATATATATG	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	5/9			chr13	TogoVar
LNX2_chr13_27540913_27625529	27560565	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01169.hp1 HG01978.hp2 others(9): Show HG00140.hp2 HG01169.hp1 HG01978.hp2 HG02523.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG03017.hp1 HG03239.hp1 HG04204.hp2 NA18967.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 a0001c0001t0020	a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0261 others(9): Show a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0005g0038 a0001c0001t0005g0041 a0001c0001t0005g0048 a0001c0001t0018g0337 a0001c0001t0018g0338 a0001c0001t0020g0345	12	358	0.0335	26	c.122 others(43): Show c.1225-581_1225-580insTATATATATATATATATATATATATA	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	5/9			chr13	TogoVar
LNX2_chr13_27540913_27625529	27560565	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	358	0.0028	26	c.122 others(43): Show c.1225-581_1225-580insTATATATATATATATATATATATACA	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	5/9			chr13	TogoVar
LNX2_chr13_27540913_27625529	27560565	G G	GTGTGTAT others(19): Show GTGTGTATGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18940.hp1 NA18944.hp2 others(2): Show HG00544.hp2 NA18940.hp1 NA18944.hp2 NA18971.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0016 a0001c0001t0003 a0001c0001t0016	a0001c0001t0003g0225 a0001c0001t0003g0286 a0001c0001t0003g0295 others(2): Show a0001c0001t0003g0225 a0001c0001t0003g0286 a0001c0001t0003g0295 a0001c0001t0003g0301 a0001c0001t0016g0246	5	358	0.0140	26	c.122 others(43): Show c.1225-581_1225-580insTATATATATATATATACACATACACA	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	5/9			chr13	TogoVar
LNX2_chr13_27540913_27625529	27583216	G G	GCGCGCGC others(19): Show GCGCGCGCGTCCTCTCCTATATAACTT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18955.hp1 NA18995.hp1 others(2): Show NA18949.hp1 NA18955.hp1 NA18995.hp1 NA19058.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0275 a0001c0001t0003g0277 a0001c0001t0003g0288 others(2): Show a0001c0001t0003g0275 a0001c0001t0003g0277 a0001c0001t0003g0288 a0001c0001t0003g0297 a0001c0001t0003g0314	5	358	0.0140	26	c.-10 others(45): Show c.-100-1414_-100-1413insAAGTTATATAGGAGAGGACGCGCGCG	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	1/9			chr13	TogoVar
LNX2_chr13_27540913_27625529	27583218	G G	GCGCGCGC others(19): Show GCGCGCGCGTCCTCTCCTATATAACTT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0045 a0001c0001t0005g0045	1	358	0.0028	26	c.-10 others(45): Show c.-100-1416_-100-1415insAAGTTATATAGGAGAGGACGCGCGCG	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	1/9			chr13	TogoVar
LNX2_chr13_27540913_27625529	27583224	G G	GCGCGCGC others(19): Show GCGCGCGCGTCCTCTCCTATATAACTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02280.hp2 HG02486.hp1 others(4): Show HG01109.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02647.hp2 HG02717.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0035 a0001c0001t0008 a0001c0001t0009 a0001c0001t0035	a0001c0001t0008g0022 a0001c0001t0008g0023 a0001c0001t0008g0024 others(4): Show a0001c0001t0008g0022 a0001c0001t0008g0023 a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0008g0026 a0001c0001t0009g0195 a0001c0001t0035g0346	7	358	0.0196	26	c.-10 others(45): Show c.-100-1422_-100-1421insAAGTTATATAGGAGAGGACGCGCGCG	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	1/9			chr13	TogoVar
LNX2_chr13_27540913_27625529	27583255	T T	TGTGTGTG others(19): Show TGTGTGTGCGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0131 a0002c0002t0001g0131	1	358	0.0028	26	c.-10 others(45): Show c.-100-1453_-100-1452insGCGCGCGCGCGCGCGCGCGCACACAC	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	1/9			chr13	TogoVar
LOC102723971_chr9_135609183_135624893	135619921	A A	ATCTCCCC others(19): Show ATCTCCCCCTTCTCCCCCTACTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	2	450	0.0044	26	c.96 others(35): Show c.969_*970insTCTCCCCCTTCTCCCCCTACTCCCCT	LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding		29		chr9	TogoVar
LOC128031835_chr6_53060602_53070673	53069405	T T	TAACAACA others(19): Show TAACAACAACGGAGGAGGAGGAAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	380	0.0026	26	c.37 others(37): Show c.3732_*3733insAACAACAACGGAGGAGGAGGAAAAGA	LOC128031835	ENSG00000288646.1	transcript	ENST00000678782.1	protein_coding		3733		chr6	TogoVar
LOC128092248_chr9_130708626_130718724	130716449	A A	ACATCTGA others(19): Show ACATCTGAGAAAATTATGAAGGTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	1	424	0.0024	26	c.27 others(37): Show c.2725_*2726insCATCTGAGAAAATTATGAAGGTTATT	LOC128092248	ENSG00000288570.1	transcript	ENST00000674075.1	protein_coding		2726		chr9	TogoVar
LOC128092252_chr15_50643802_50691717	50681264	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 NA21309.hp2 HG01167.hp1 HG01169.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0018 a0001c0001t0000g0025 a0001c0001t0000g0363 a0001c0001t0000g0018 a0001c0001t0000g0025 a0001c0001t0000g0363	3	388	0.0077	26	c.187 others(43): Show c.187+5241_187+5266dupGTGTGTGTGTGTGTGTGTGTGTGTGT	LOC128092252	ENSG00000288645.1	transcript	ENST00000676296.1	protein_coding	1/3			chr15	TogoVar
LOC128462377_chr16_89312046_89423292	89384879	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02698.hp2 HG02132.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0304 a0001c0001t0000g0359 a0001c0001t0000g0304 a0001c0001t0000g0359	2	366	0.0055	26	c.9+3 others(41): Show c.9+33379_9+33404dupAAAAAAAAAAAAAAAAAAAAAAAAAA	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar

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Search Results (Total: 10000 hits)