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
LARGE1_chr22_33267509_33925476	33785110	CATATGTG others(27): Show CATATGTGTATATGCATATATGTGTATACATACAT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18906.hp1 HG02896.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0033 a0001c0003t0011 a0001c0001t0033 a0001c0003t0011	a0001c0001t0033g0110 a0001c0003t0011g0063 a0001c0001t0033g0110 a0001c0003t0011g0063	2	110	0.0182	-34	c.-82 others(53): Show c.-82-23586_-82-23553delATGTATGTATACACATATATGCATAT ACACATAT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14			chr22	TogoVar
LARP1B_chr4_128056312_128216988	128110658	CAGAGCGA others(27): Show CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp1 HG02622.hp2 others(1): Show HG01891.hp1 HG02486.hp1 HG02622.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0131 a0001c0001t0007g0132 a0001c0001t0007g0133 others(1): Show a0001c0001t0007g0131 a0001c0001t0007g0132 a0001c0001t0007g0133 a0001c0001t0007g0258	4	336	0.0119	-34	c.988 others(51): Show c.988+3349_988+3382delGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAGA	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARS1_chr5_146108034_146187650	146174487	TATATATA others(27): Show TATATATATATATCCATATATATATATATATATCC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02647.hp1 HG02723.hp1 others(1): Show HG02559.hp2 HG02647.hp1 HG02723.hp1 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0006 a0001c0006t0003 a0001c0004t0006 a0001c0006t0003	a0001c0004t0006g0167 a0001c0006t0003g0004 a0001c0006t0003g0177 a0001c0004t0006g0167 a0001c0006t0003g0004 a0001c0006t0003g0177	4	284	0.0141	-34	c.126 others(51): Show c.126-1747_126-1714delGGATATATATATATATATATGGATATAT ATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LAS1L_chrX_65507582_65539787	65538494	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG02109.hp2 HG02145.hp1 others(17): Show HG01167.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02622.hp2 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG03209.hp1 HG03516.hp1 HG03579.hp1 NA19043.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 others(17): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0002t0001g0032	20	203	0.0985	-34	c.-38 others(45): Show c.-3813_-3780delAATATATATATATATATATATATATATATATATA	LAS1L	ENSG00000001497.18	transcript	ENST00000374811.8	protein_coding		3708		chrX	TogoVar
LAS1L_chrX_65507582_65539787	65538496	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02970.hp2 others(1): Show HG02895.hp1 HG02897.hp2 HG02970.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0033 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0045	4	203	0.0197	-34	c.-38 others(45): Show c.-3815_-3782delAAAATATATATATATATATATATATATATATATA	LAS1L	ENSG00000001497.18	transcript	ENST00000374811.8	protein_coding		3710		chrX	TogoVar
LASP1NB_chr17_38920614_38934381	38929459	CTTGATGA others(27): Show CTTGATGAAAACAGGGGGTTTGTGGGGAAGAATGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	422	0.0024	-34	c.31 others(45): Show c.3164_*3197delTTGATGAAAACAGGGGGTTTGTGGGGAAGAATGA	LASP1NB	ENSG00000263874.3	transcript	ENST00000583195.3	protein_coding		79		chr17	TogoVar
LAT2_chr7_74205006_74234834	74214523	TAAATATA others(27): Show TAAATATATATATGAATATATATATATATATATGA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01255.hp2 HG03017.hp1 others(1): Show HG00323.hp2 HG01255.hp2 HG03017.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0050 a0001c0001t0001g0182 a0001c0001t0001g0193 others(1): Show a0001c0001t0001g0050 a0001c0001t0001g0182 a0001c0001t0001g0193 a0001c0001t0009g0044	4	344	0.0116	-34	c.-21 others(51): Show c.-218-286_-218-253delGAATATATATATATATATATGAAAATAT ATATAT	LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LAT2_chr7_74205006_74234834	74214553	TATGAAAA others(27): Show TATGAAAATATATATATATGAAAATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	344	0.0029	-34	c.-21 others(51): Show c.-218-266_-218-233delGAAAATATATATATATGAAAATATATAT ATAAAT	LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LBHD1_chr11_62657817_62677267	62675527	CCTGTAAT others(27): Show CCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	360	0.0028	-34	c.-40 others(45): Show c.-4008_-3975delCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAG	LBHD1	ENSG00000162194.13	transcript	ENST00000354588.8	protein_coding		3261		chr11	TogoVar
LCE6A_chr1_152837856_152848983	152839339	ACTGTAAG others(27): Show ACTGTAAGTGTCTGATTTCATCATGGCCTGAGTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	400	0.0025	-34	c.-36 others(45): Show c.-3693_-3660delCTGTAAGTGTCTGATTTCATCATGGCCTGAGTCT	LCE6A	ENSG00000235942.3	transcript	ENST00000431011.3	protein_coding		3516		chr1	TogoVar
LCMT1_chr16_25106742_25183228	25177859	TCATTTTA others(27): Show TCATTTTATGTAGCAGGAGGGCGGTGCTACAGTGG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	348	0.0029	-34	c.983 others(49): Show c.983-141_983-108delCATTTTATGTAGCAGGAGGGCGGTGCTACA GTGG	LCMT1	ENSG00000205629.12	transcript	ENST00000399069.8	protein_coding	10/10			chr16	TogoVar
LCN15_chr9_136754634_136769518	136766486	CTACAATT others(27): Show CTACAATTATAACCTAGGAAAAACCAGGCCATACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0020 a0001c0003t0001g0020	1	356	0.0028	-34	c.-20 others(45): Show c.-2032_-1999delTGTATGGCCTGGTTTTTCCTAGGTTATAATTGTA	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		1969		chr9	TogoVar
LCN15_chr9_136754634_136769518	136768920	TCAGCCTC others(27): Show TCAGCCTCCCATGTAGCTGGGATAACAGTAGCCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	356	0.0028	-34	c.-44 others(45): Show c.-4466_-4433delGTGGCTACTGTTATCCCAGCTACATGGGAGGCTG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4403		chr9	TogoVar
LCN1_chr9_135516440_135531540	135526008	CCACCATA others(27): Show CCACCATAGCCCCCGAGAGCCCACATGTGCCCACA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp2 HG03209.hp2 HG02922.hp2 HG03139.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0069 a0001c0001t0001g0023 a0001c0001t0001g0069	3	436	0.0069	-34	c.2- others(47): Show c.2-304_*2-271delACACACCATAGCCCCCGAGAGCCCACATGTGC CC	LCN1	ENSG00000160349.10	transcript	ENST00000371781.4	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
LCTL_chr15_66542532_66570998	66568865	CACACACA others(27): Show CACACACACACATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02922.hp1 HG03130.hp2 others(3): Show HG01884.hp1 HG02922.hp1 HG03130.hp2 NA18973.hp2 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0001g0156 a0001c0001t0002g0032 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0156 a0001c0001t0002g0032 a0001c0001t0002g0143 a0001c0001t0011g0124	6	434	0.0138	-34	c.-30 others(45): Show c.-3065_-3032delATATATATATATATATATATATATGTGTGTGTGT	LCTL	ENSG00000188501.12	transcript	ENST00000695545.1	protein_coding		2868		chr15	TogoVar
LCTL_chr15_66542532_66570998	66568867	CACACACA others(27): Show CACACACACATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02976.hp2 HG02145.hp1 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0195 a0001c0003t0001g0196 a0001c0003t0001g0195 a0001c0003t0001g0196	2	434	0.0046	-34	c.-30 others(45): Show c.-3067_-3034delATATATATATATATATATATATATATGTGTGTGT	LCTL	ENSG00000188501.12	transcript	ENST00000695545.1	protein_coding		2870		chr15	TogoVar
LCTL_chr15_66542532_66570998	66568871	CACACATA others(27): Show CACACATATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	434	0.0023	-34	c.-30 others(45): Show c.-3071_-3038delATATATATATATATATATATATATATATATGTGT	LCTL	ENSG00000188501.12	transcript	ENST00000695545.1	protein_coding		2874		chr15	TogoVar
LCT_chr2_135782850_135842184	135835482	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0123 a0002c0002t0001g0123	1	366	0.0027	-34	c.640 others(51): Show c.640+1014_640+1047delTATATATATATATATATATATATATATA TATATA	LCT	ENSG00000115850.10	transcript	ENST00000264162.7	protein_coding	1/16			chr2	TogoVar
LDB2_chr4_16496541_16903645	16618868	AGTCAGTT others(27): Show AGTCAGTTCTCACGAGAGATCTGGTTAAGAGTGTG	A A	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	162	0.0062	-34	c.236 others(53): Show c.236-23027_236-22994delCACACTCTTAACCAGATCTCTCGTGA GAACTGAC	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	2/7			chr4	TogoVar
LDB2_chr4_16496541_16903645	16755518	TGTGTGTA others(27): Show TGTGTGTATGTGAGAGAGAGAGAGACAGACAGACA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01258.hp1 HG03834.hp1 others(3): Show HG01192.hp2 HG01258.hp1 HG03834.hp1 HG04228.hp1 HG06807.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0073 others(3): Show a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0073 a0001c0001t0001g0103 a0001c0001t0001g0114 a0001c0001t0002g0045	6	162	0.0370	-34	c.235 others(51): Show c.235+3606_235+3639delTGTCTGTCTGTCTCTCTCTCTCTCACAT ACACAC	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	2/7			chr4	TogoVar
LDB2_chr4_16496541_16903645	16897912	ATATATAT others(27): Show ATATATATATATATATATATATATATACACATATG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19056.hp2 HG06807.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0073 a0001c0001t0001g0074	2	162	0.0124	-34	c.132 others(49): Show c.132+408_132+441delCATATGTGTATATATATATATATATATATA TATA	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	1/7			chr4	TogoVar
LDHAL6A_chr11_18450856_18484601	18453586	GTATATGT others(27): Show GTATATGTGTATGTGTGTGTATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0306 a0001c0002t0013g0306	1	420	0.0024	-34	c.-30 others(45): Show c.-3094_-3061delTATATGTGTATGTGTGTGTATATATATATATATA	LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding		2269		chr11	TogoVar
LDHAL6A_chr11_18450856_18484601	18467958	TATATATA others(27): Show TATATATATACGTATATATATACGTATATATATGC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp2 HG00733.hp1 others(11): Show HG00323.hp1 HG00621.hp2 HG00733.hp1 HG01167.hp2 HG01358.hp2 HG01981.hp1 HG03834.hp2 HG04184.hp1 NA18965.hp1 NA18995.hp2 NA19001.hp1 NA19075.hp1 NA19077.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0006 a0001c0001t0065 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0065 a0001c0001t0066 a0001c0002t0006 a0001c0002t0018	a0001c0001t0004g0324 a0001c0001t0004g0334 a0001c0001t0004g0338 others(11): Show a0001c0001t0004g0324 a0001c0001t0004g0334 a0001c0001t0004g0338 a0001c0001t0004g0341 a0001c0001t0006g0291 a0001c0001t0065g0337 a0001c0001t0066g0323 a0001c0002t0006g0272 a0001c0002t0006g0295 a0001c0002t0006g0304 a0001c0002t0006g0307 a0001c0002t0006g0309 a0001c0002t0018g0103 a0001c0002t0018g0104	14	420	0.0333	-34	c.418 others(51): Show c.418+2171_418+2204delGTATATATATGCATATATATACGTATAT ATATAC	LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDHC_chr11_18407318_18457063	18453586	GTATATGT others(27): Show GTATATGTGTATGTGTGTGTATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0017	1	348	0.0029	-34	c.24 others(45): Show c.2460_*2493delTATATGTGTATGTGTGTGTATATATATATATATA	LDHC	ENSG00000166796.12	transcript	ENST00000541669.6	protein_coding		1524		chr11	TogoVar
LDLR_chr19_11084463_11138820	11134835	AAGGACCC others(27): Show AAGGACCCAGAAGGGGAAGACTCCCAGAACTCCGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0059 a0001c0003t0059	a0001c0003t0059g0129 a0001c0003t0059g0129	1	358	0.0028	-34	c.35 others(45): Show c.3520_*3553delAGGACCCAGAAGGGGAAGACTCCCAGAACTCCGG	LDLR	ENSG00000130164.15	transcript	ENST00000558518.6	protein_coding		1016		chr19	TogoVar
LETMD1_chr12_51043327_51065424	51045053	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGTGCGTGTGCACGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	416	0.0024	-34	c.-33 others(45): Show c.-3303_-3270delGTGTGTGTGTGTGTGTGTGTGCGTGTGCACGCGC	LETMD1	ENSG00000050426.16	transcript	ENST00000262055.9	protein_coding		3273		chr12	TogoVar
LGALS1_chr22_37670636_37684802	37683674	TTTTTAAT others(27): Show TTTTTAATAGAGATGGGGTTTCATCATGTTGGTCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	420	0.0024	-34	c.39 others(45): Show c.3926_*3959delTTTTAATAGAGATGGGGTTTCATCATGTTGGTCA	LGALS1	ENSG00000100097.12	transcript	ENST00000215909.10	protein_coding		3873		chr22	TogoVar
LHFPL6_chr13_39337892_39608193	39352936	TGTGTGTA others(27): Show TGTGTGTATATATATATACATACATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03579.hp1 HG02135.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0020 a0001c0001t0010 a0001c0001t0020	a0001c0001t0010g0118 a0001c0001t0020g0003 a0001c0001t0010g0118 a0001c0001t0020g0003	2	242	0.0083	-34	c.485 others(51): Show c.485-8916_485-8883delGTGTGTGTGTATGTATGTATATATATAT ACACAC	LHFPL6	ENSG00000183722.9	transcript	ENST00000379589.4	protein_coding	3/3			chr13	TogoVar
LHFPL6_chr13_39337892_39608193	39562441	TATATACA others(27): Show TATATACACATATATACATATATACACATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	242	0.0041	-34	c.385 others(53): Show c.385+38357_385+38390delGTGTATATGTGTATATATGTATATAT GTGTATAT	LHFPL6	ENSG00000183722.9	transcript	ENST00000379589.4	protein_coding	2/3			chr13	TogoVar
LHPP_chr10_124456823_124619141	124615550	TGTGATGC others(27): Show TGTGATGCCGGGCTGTGCGTGATGCCGGGCTGGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG02451.hp2 HG02735.hp2 others(7): Show HG01070.hp2 HG02451.hp2 HG02735.hp2 HG03688.hp2 HG04204.hp1 NA18944.hp2 NA18947.hp2 NA18986.hp2 NA19077.hp1 NA19081.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0007 a0001c0001 a0003c0003 a0004c0007	a0001c0001t0003 a0001c0001t0012 a0003c0003t0009 others(1): Show a0001c0001t0003 a0001c0001t0012 a0003c0003t0009 a0004c0007t0003	a0001c0001t0003g0101 a0001c0001t0003g0171 a0001c0001t0003g0177 others(7): Show a0001c0001t0003g0101 a0001c0001t0003g0171 a0001c0001t0003g0177 a0001c0001t0003g0182 a0001c0001t0003g0202 a0001c0001t0003g0205 a0001c0001t0003g0207 a0001c0001t0012g0027 a0003c0003t0009g0257 a0004c0007t0003g0215	10	260	0.0385	-34	c.21 others(45): Show c.2191_*2224delGTGATGCCGGGCTGTGCGTGATGCCGGGCTGGGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding		1410		chr10	TogoVar
LIFR_chr5_38469668_38561646	38553622	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18956.hp2 NA18960.hp2 others(3): Show NA18955.hp2 NA18956.hp2 NA18960.hp2 NA18983.hp2 NA19058.hp1 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0176 a0002c0002t0003g0005 a0002c0002t0003g0167 others(2): Show a0001c0001t0001g0176 a0002c0002t0003g0005 a0002c0002t0003g0167 a0002c0002t0003g0168 a0002c0002t0003g0169	6	374	0.0160	-34	c.-20 others(51): Show c.-20+2678_-20+2711delTATATATATATATATATATATATATATA TATATA	LIFR	ENSG00000113594.10	transcript	ENST00000453190.7	protein_coding	1/19			chr5	TogoVar
LILRA5_chr19_54302070_54318166	54308335	GTATATAT others(27): Show GTATATATATGTATATATAAATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02717.hp2 HG01081.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0126 a0001c0001t0004g0123 a0001c0001t0001g0126 a0001c0001t0004g0123	2	409	0.0049	-34	c.713 others(49): Show c.713-621_713-588delTATATATATATATATTTATATATACATATA TATA	LILRA5	ENSG00000187116.14	transcript	ENST00000432233.8	protein_coding	5/6			chr19	TogoVar
LIMS4_chr2_110440883_110477816	110451745	GAATCATG others(27): Show GAATCATGGAGATTTGAAAGGATTGGTTACCCCTT	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02970.hp2 HG02897.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0062 a0002c0002t0002g0066 a0002c0002t0002g0062 a0002c0002t0002g0066	2	90	0.0222	-34	c.831 others(48): Show c.831+85_831+118delAAGGGGTAACCAATCCTTTCAAATCTCCATG ATT	LIMS4	ENSG00000256671.7	transcript	ENST00000632897.2	protein_coding	6/9			chr2	TogoVar
LIN28B_chr6_104952107_105088332	105037162	TTTTGTTA others(27): Show TTTTGTTACTTGCACTGCTGAATCCTTCCACTGAA	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0119 a0001c0001t0003g0119	1	278	0.0036	-34	c.383 others(53): Show c.383+10715_383+10748delTTTGTTACTTGCACTGCTGAATCCTT CCACTGAA	LIN28B	ENSG00000187772.8	transcript	ENST00000345080.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
LIN54_chr4_82919603_83015823	83001893	AGGAGGGA others(27): Show AGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG04184.hp2 HG02647.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0189 a0001c0001t0003g0172 a0001c0001t0003g0189	2	304	0.0066	-34	c.-33 others(51): Show c.-33+8557_-33+8590delCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCC	LIN54	ENSG00000189308.11	transcript	ENST00000340417.8	protein_coding	1/12			chr4	TogoVar
LINGO2_chr9_27932617_29218601	28769496	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01071.hp2 HG02027.hp2 others(2): Show HG00741.hp1 HG01071.hp2 HG02027.hp2 HG02602.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 a0001c0001t0001 a0001c0001t0007 a0001c0001t0013	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0029 others(2): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0007g0009 a0001c0001t0013g0010	5	62	0.0807	-34	c.-39 others(55): Show c.-394-99250_-394-99217delAAAAAAAAAAAATATATATATATA TATATATATA	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6			chr9	TogoVar
LIPC_chr15_58426991_58574844	58567279	GTGTATAT others(27): Show GTGTATATATATATACATATATATATACATATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00438.hp2 others(41): Show HG00099.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG01978.hp2 HG02015.hp1 HG02071.hp2 HG02080.hp1 HG02717.hp2 HG02896.hp1 HG02965.hp1 HG02976.hp1 HG03942.hp2 NA18747.hp1 NA18939.hp1 NA18940.hp2 NA18942.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18960.hp1 NA18964.hp1 NA18967.hp1 NA18972.hp1 NA18977.hp1 NA18985.hp1 NA18986.hp2 NA18989.hp1 NA18994.hp1 NA18994.hp2 NA18999.hp2 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19009.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19083.hp1 NA19084.hp1 NA19087.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0002c0012 a0003c0011 a0003c0034	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0009t0001 a0002c0012t0001 a0003c0011t0001 a0003c0034t0001	a0001c0001t0001g0013 a0001c0001t0001g0155 a0001c0001t0001g0303 others(41): Show a0001c0001t0001g0013 a0001c0001t0001g0155 a0001c0001t0001g0303 a0001c0001t0001g0320 a0001c0001t0002g0199 a0001c0002t0001g0022 a0001c0002t0001g0036 a0001c0002t0001g0048 a0001c0002t0001g0069 a0001c0002t0001g0083 a0001c0002t0001g0087 a0001c0002t0001g0111 a0001c0002t0001g0124 a0001c0002t0001g0134 a0001c0002t0001g0151 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0159 a0001c0002t0001g0168 a0001c0002t0001g0246 a0001c0002t0001g0257 a0001c0002t0001g0267 a0001c0002t0001g0287 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0312 a0001c0002t0001g0325 a0001c0003t0001g0113 a0001c0009t0001g0029 a0001c0009t0001g0046 a0001c0009t0001g0084 a0001c0009t0001g0147 a0001c0009t0001g0161 a0001c0009t0001g0176 a0001c0009t0001g0226 a0001c0009t0001g0266 a0002c0012t0001g0104 a0003c0011t0001g0116 a0003c0011t0001g0117 a0003c0011t0001g0142 a0003c0011t0001g0237 a0003c0011t0001g0308 a0003c0011t0001g0329 a0003c0034t0001g0164	44	358	0.1229	-34	c.138 others(53): Show c.1389-1429_1389-1396delATATATACATATATATATACATATAT ATGTATAT	LIPC	ENSG00000166035.11	transcript	ENST00000299022.10	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
LIPC_chr15_58426991_58574844	58567287	ATATATAC others(27): Show ATATATACATATATATATACATATATATGTATATG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03225.hp2 HG03195.hp1 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0200 a0001c0003t0004g0209 a0001c0003t0004g0200 a0001c0003t0004g0209	2	358	0.0056	-34	c.138 others(53): Show c.1389-1427_1389-1394delATATACATATATATATACATATATAT GTATATGT	LIPC	ENSG00000166035.11	transcript	ENST00000299022.10	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
LIPI_chr21_14103813_14215955	14106190	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0032 a0002c0002t0002g0032	1	362	0.0028	-34	c.27 others(45): Show c.2769_*2802delATATATATATATATATATATTTTTTTTTTTTTTT	LIPI	ENSG00000188992.12	transcript	ENST00000681601.1	protein_coding		2622		chr21	TogoVar
LIPI_chr21_14103813_14215955	14106192	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp2 NA18970.hp1 NA18970.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0002c0002 a0003c0005	a0002c0002t0002 a0003c0005t0002 a0002c0002t0002 a0003c0005t0002	a0002c0002t0002g0107 a0003c0005t0002g0271 a0002c0002t0002g0107 a0003c0005t0002g0271	2	362	0.0055	-34	c.27 others(45): Show c.2767_*2800delATATATATATATATATATATATTTTTTTTTTTTT	LIPI	ENSG00000188992.12	transcript	ENST00000681601.1	protein_coding		2620		chr21	TogoVar
LIPI_chr21_14103813_14215955	14106194	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01175.hp1 HG01175.hp2 others(4): Show HG00280.hp1 HG01175.hp1 HG01175.hp2 HG01975.hp2 HG02602.hp2 NA19006.hp2 NA19075.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0003c0006 a0002c0002 a0003c0005 a0003c0006	a0002c0002t0002 a0003c0005t0002 a0003c0006t0002 a0002c0002t0002 a0003c0005t0002 a0003c0006t0002	a0002c0002t0002g0080 a0002c0002t0002g0162 a0003c0005t0002g0279 others(4): Show a0002c0002t0002g0080 a0002c0002t0002g0162 a0003c0005t0002g0279 a0003c0005t0002g0285 a0003c0005t0002g0292 a0003c0005t0002g0296 a0003c0006t0002g0137	7	362	0.0193	-34	c.27 others(45): Show c.2765_*2798delATATATATATATATATATATATATTTTTTTTTTT	LIPI	ENSG00000188992.12	transcript	ENST00000681601.1	protein_coding		2618		chr21	TogoVar
LIPI_chr21_14103813_14215955	14106198	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 NA18522.hp2 HG03041.hp1 NA18522.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0029 a0005c0004t0002g0219 a0005c0004t0002g0029 a0005c0004t0002g0219	2	362	0.0055	-34	c.27 others(45): Show c.2761_*2794delATATATATATATATATATATATATATATTTTTTT	LIPI	ENSG00000188992.12	transcript	ENST00000681601.1	protein_coding		2614		chr21	TogoVar
LIPT1_chr2_99149967_99168137	99161269	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG04228.hp2 HG03209.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0241 a0001c0001t0001g0169 a0001c0001t0001g0241	2	406	0.0049	-34	c.-1- others(47): Show c.-1-686_-1-653delAAAAAAAAAAAAAAAAAAAAAATATATATATA TA	LIPT1	ENSG00000144182.17	transcript	ENST00000651691.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
LIPT1_chr2_99149967_99168137	99161271	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01169.hp1 HG01515.hp2 others(8): Show HG00639.hp2 HG01169.hp1 HG01515.hp2 HG01517.hp1 HG01975.hp1 HG02273.hp2 HG03710.hp1 NA18994.hp1 NA19010.hp2 NA19056.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0045 a0001c0001t0001g0149 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0045 a0001c0001t0001g0149 a0001c0001t0001g0157 a0001c0001t0001g0200 a0001c0001t0001g0207	11	406	0.0271	-34	c.-1- others(47): Show c.-1-684_-1-651delAAAAAAAAAAAAAAAAAAAATATATATATATA TA	LIPT1	ENSG00000144182.17	transcript	ENST00000651691.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
LIPT1_chr2_99149967_99168137	99161273	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01515.hp1 NA18986.hp1 HG01175.hp2 HG01515.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0155 a0001c0001t0001g0043 a0001c0001t0001g0155	3	406	0.0074	-34	c.-1- others(47): Show c.-1-682_-1-649delAAAAAAAAAAAAAAAAAATATATATATATATA TA	LIPT1	ENSG00000144182.17	transcript	ENST00000651691.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
LIPT1_chr2_99149967_99168137	99161277	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0238 a0001c0003t0001g0238	1	406	0.0025	-34	c.-1- others(47): Show c.-1-678_-1-645delAAAAAAAAAAAAAATATATATATATATATATA TA	LIPT1	ENSG00000144182.17	transcript	ENST00000651691.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
LMAN1L_chr15_74807835_74830754	74822105	GAGGTCAA others(27): Show GAGGTCAAAAGACTGACACCATCGGGCAGATCACA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01255.hp2 HG01884.hp1 others(16): Show HG01109.hp2 HG01255.hp2 HG01884.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02965.hp1 HG03098.hp1 HG03098.hp2 HG03453.hp1 NA18522.hp2 NA18906.hp2 NA19043.hp2 NA20300.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0013 a0003c0003t0001g0043 a0003c0003t0001g0044 others(7): Show a0003c0003t0001g0013 a0003c0003t0001g0043 a0003c0003t0001g0044 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0109 a0003c0003t0001g0111 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0002g0112	19	408	0.0466	-34	c.113 others(51): Show c.1131+217_1131+250delCTGACACCATCGGGCAGATCACAAGGTC AAAAGA	LMAN1L	ENSG00000140506.17	transcript	ENST00000309664.10	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
LMF1_chr16_848634_975984	886545	ATTCCCCA others(27): Show ATTCCCCAGGCCCCTCCCACCCTAGGCCCCCGGCG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA18975.hp1 HG01978.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0204 a0001c0002t0001g0029 a0001c0001t0001g0204 a0001c0002t0001g0029	2	294	0.0068	-34	c.729 others(51): Show c.729+6428_729+6461delCGCCGGGGGCCTAGGGTGGGAGGGGCCT GGGGAA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	5/10			chr16	TogoVar
LMF1_chr16_848634_975984	948133	AAGTCAGC others(27): Show AAGTCAGCCAACGACAGAGTCAGAGCCAACGACAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0022 a0022	a0022c0042 a0022c0042	a0022c0042t0001 a0022c0042t0001	a0022c0042t0001g0084 a0022c0042t0001g0084	1	294	0.0034	-34	c.503 others(51): Show c.503+6190_503+6223delCTGTCGTTGGCTCTGACTCTGTCGTTGG CTGACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	948388	TCAGAGTC others(27): Show TCAGAGTCAGCCAACGACAGAGTCAAAGCCAACGA	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0023 a0023	a0023c0063 a0023c0063	a0023c0063t0001 a0023c0063t0001	a0023c0063t0001g0187 a0023c0063t0001g0187	1	294	0.0034	-34	c.503 others(51): Show c.503+5935_503+5968delTCGTTGGCTTTGACTCTGTCGTTGGCTG ACTCTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar

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Search Results (Total: 3456 hits)