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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DTNA_chr18_34705298_34896844	34790567	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	112	0.0089	25	c.149 others(42): Show c.149-3469_149-3468insATATATATATATATATATTTTTTTT		DTNA	ENSG00000134769.23	transcript	ENST00000444659.6	protein_coding	3/22					INFO_REALIGN_3_PRIME	chr18	TogoVar
DTNB_chr2_25372243_25678577	25526395	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	168	0.0060	25	c.100 others(44): Show c.1001+5077_1001+5078insAAAAAAAAAAATATATATATATATA		DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	9/20						chr2	TogoVar
DUSP14_chr17_37484891_37518498	37490145	C C	CCCGCGGA others(18): Show CCCGCGGAGGAGAGGCCCGAGACCCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0383 a0001c0001t0001g0383	1	421	0.0024	25	c.-18 others(42): Show c.-181+210_-181+211insCTCCGCGGAGGAGAGGCCCGAGACC		DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr17	TogoVar
DUSP14_chr17_37484891_37518498	37509104	C C	CCATATAT others(18): Show CCATATATATATATATGTGTGTATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02818.hp1 HG02895.hp1 others(4): Show HG02280.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02976.hp2 NA18975.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0252 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0001g0329	7	421	0.0166	25	c.-18 others(44): Show c.-180-1573_-180-1572insCATATATATATATATGTGTGTATAT		DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	1/2						chr17	TogoVar
DUSP14_chr17_37484891_37518498	37509104	C C	CCATATAT others(18): Show CCATATATATATATATGTGTGTGTAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18998.hp1 NA19072.hp1 NA18984.hp1 NA18998.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0327 a0001c0001t0001g0025 a0001c0001t0001g0327	3	421	0.0071	25	c.-18 others(44): Show c.-180-1573_-180-1572insCATATATATATATATGTGTGTGTAT		DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	1/2						chr17	TogoVar
DUSP26_chr8_33586330_33605023	33590730	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 NA19030.hp2 HG03471.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0112 a0001c0002t0003g0122 a0001c0002t0003g0112 a0001c0002t0003g0122	2	420	0.0048	25	c.12 others(36): Show c.1282_*1283insAAAAAAAAAAAAAAAAAAAAAAAAA		DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding					599		chr8	TogoVar
DUSP5_chr10_110492907_110516533	110513481	G G	GTTGTTCT others(18): Show GTTGTTCTTCTGAACACCATAAAGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0041 a0001c0002t0003g0041	1	410	0.0024	25	c.30 others(36): Show c.3055_*3056insTTGTTCTTCTGAACACCATAAAGCT		DUSP5	ENSG00000138166.6	transcript	ENST00000369583.4	protein_coding					1949		chr10	TogoVar
DUXA_chr19_57149021_57172485	57161324	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	446	0.0022	25	c.26- others(38): Show c.26-528_26-527insTTTTTTTTTTTTTTTTTTTTTTTTT		DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	1/5						chr19	TogoVar
DUXA_chr19_57149021_57172485	57165320	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	446	0.0022	25	c.25+ others(40): Show c.25+2098_25+2099insATATATATATATATATATATATATA		DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	1/5						chr19	TogoVar
DUXA_chr19_57149021_57172485	57165322	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01978.hp2 HG02148.hp1 HG00642.hp1 HG01978.hp2 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0078 a0001c0001t0002g0079 a0001c0001t0002g0181 a0001c0001t0001g0078 a0001c0001t0002g0079 a0001c0001t0002g0181	3	446	0.0067	25	c.25+ others(40): Show c.25+2096_25+2097insATATATATATATATATATATATATA		DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	1/5						chr19	TogoVar
DUXA_chr19_57149021_57172485	57165322	A A	ATATATAT others(18): Show ATATATATATATATATGTATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	446	0.0022	25	c.25+ others(40): Show c.25+2096_25+2097insATATATATACATATATATATATATA		DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	1/5						chr19	TogoVar
DUXA_chr19_57149021_57172485	57165324	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	446	0.0022	25	c.25+ others(40): Show c.25+2094_25+2095insATATATATATATATATATATATATA		DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	1/5						chr19	TogoVar
DVL2_chr17_7220342_7239517	7233087	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18954.hp1 NA18992.hp2 others(1): Show NA18943.hp1 NA18954.hp1 NA18992.hp2 NA19079.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0046 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0002g0046 a0001c0003t0002g0153 a0001c0003t0002g0154	4	406	0.0099	25	c.194 others(40): Show c.194+981_194+982insTTTTTTTTTTTTTTTTTTTTTTTTT		DVL2	ENSG00000004975.12	transcript	ENST00000005340.10	protein_coding	1/14						chr17	TogoVar
DYM_chr18_49031387_49465645	49317597	C C	CTCTCTCT others(18): Show CTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19240.hp1 HG02965.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0209 a0001c0002t0001g0224 a0001c0002t0001g0209 a0001c0002t0001g0224	2	290	0.0069	25	c.763 others(44): Show c.763+14266_763+14267insAGAGAGAGAGAGAGAGAGAGAGAGA		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17						chr18	TogoVar
DYNC1H1_chr14_101959573_102061443	102031634	C C	CTTAAAAT others(18): Show CTTAAAATATTTTGTAAAATATTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0053 a0001c0015t0053	a0001c0015t0053g0154 a0001c0015t0053g0154	1	280	0.0036	25	c.988 others(42): Show c.9884-625_9884-601dupGTAAAATATTTTTTTAAAATATTTT		DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	51/77					INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1LI1_chr3_32520974_32575858	32532480	A A	ATGTGTAT others(18): Show ATGTGTATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG01074.hp2 others(5): Show HG00280.hp1 HG00423.hp1 HG01074.hp2 HG01496.hp2 HG01975.hp1 HG02129.hp1 NA18988.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0289 a0001c0001t0001g0292 a0001c0001t0001g0293 others(5): Show a0001c0001t0001g0289 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0306 a0001c0001t0001g0312 a0001c0001t0001g0316 a0001c0001t0005g0074	8	336	0.0238	25	c.108 others(42): Show c.1080+505_1080+506insATATATATATATATATATATACACA		DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	8/12						chr3	TogoVar
DYNC1LI1_chr3_32520974_32575858	32532480	A A	ATGTGTAT others(18): Show ATGTGTATGTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18964.hp2 NA19084.hp2 HG02074.hp1 NA18964.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0017 a0001c0001t0003g0003 a0001c0001t0003g0017	3	336	0.0089	25	c.108 others(42): Show c.1080+505_1080+506insATATATATATATATATACATACACA		DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	8/12						chr3	TogoVar
DYNC1LI1_chr3_32520974_32575858	32532507	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0054 a0001c0001t0014g0054	1	336	0.0030	25	c.108 others(42): Show c.1080+478_1080+479insATATATATATATATATATATATATA		DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	8/12						chr3	TogoVar
DYNC2H1_chr11_103104426_103484863	103309168	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02602.hp2 HG02683.hp2 HG00544.hp2 HG02602.hp2 HG02683.hp2	a0001 a0031 a0001 a0031	a0001c0006 a0001c0025 a0031c0042 a0001c0006 a0001c0025 a0031c0042	a0001c0006t0001 a0001c0025t0001 a0031c0042t0001 a0001c0006t0001 a0001c0025t0001 a0031c0042t0001	a0001c0006t0001g0064 a0001c0025t0001g0050 a0031c0042t0001g0065 a0001c0006t0001g0064 a0001c0025t0001g0050 a0031c0042t0001g0065	3	262	0.0115	25	c.114 others(46): Show c.11493+1361_11493+1362insTTTTTTTTTTTTTTTTTTTTTTTT T		DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	78/88					INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103483022	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0018 a0018	a0018c0030 a0018c0030	a0018c0030t0001 a0018c0030t0001	a0018c0030t0001g0103 a0018c0030t0001g0103	1	262	0.0038	25	c.37 others(36): Show c.3769_*3770insAAAAAAAAAAAAAAAAAAAAAAAAA		DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding					3160		chr11	TogoVar
DYNC2I2_chr9_128628653_128661847	128655335	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	368	0.0027	25	c.186 others(42): Show c.186+1181_186+1205dupTTTTTTTTTTTTTTTTTTTTTTTTT		DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8						chr9	TogoVar
DYNLL2_chr17_58078419_58100542	58099871	T T	TTTCTAAA others(18): Show TTTCTAAAAATCCAATATTTTTCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0001 a0001c0001t0017g0001	1	306	0.0033	25	c.10 others(38): Show c.10592_*10593insTTCTAAAAATCCAATATTTTTCAGC		DYNLL2	ENSG00000264364.3	transcript	ENST00000579991.3	protein_coding					4330		chr17	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	25	c.75 others(34): Show c.757_*758insATATATATATATATATATATATATA		DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding					404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG03942.hp2 NA19000.hp1 HG02083.hp1 HG03942.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	396	0.0076	25	c.75 others(34): Show c.757_*758insAAATATATATATATATATATATATA		DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding					404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 NA18939.hp1 NA18939.hp2 others(1): Show HG02300.hp2 NA18939.hp1 NA18939.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0004	4	396	0.0101	25	c.75 others(34): Show c.757_*758insAAAAATATATATATATATATATATA		DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding					404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 NA19082.hp2 HG02080.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0001 a0001c0001t0001g0018	2	396	0.0051	25	c.75 others(34): Show c.757_*758insAAAAAAATATATATATATATATATA		DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding					404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	25	c.75 others(34): Show c.757_*758insAAAAAAAAATATATATATATATATA		DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding					404		chr6	TogoVar
DYNLT2B_chr3_196286219_196323240	196317476	T T	TGTGTTGT others(18): Show TGTGTTGTGTGGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02602.hp2 HG03710.hp2 others(5): Show HG00408.hp1 HG02602.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp1 NA18952.hp1 NA19090.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0174 a0001c0001t0001g0175 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179	8	330	0.0242	25	c.113 others(40): Show c.113+563_113+564insCACACACACACACACCACACAACAC		DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4						chr3	TogoVar
DYNLT2B_chr3_196286219_196323240	196317478	T T	TGTTGTGT others(18): Show TGTTGTGTGGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00423.hp2 others(90): Show HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01978.hp2 HG02027.hp2 HG02056.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02738.hp1 HG02738.hp2 HG03017.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18985.hp2 NA18986.hp1 NA18992.hp1 NA18993.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19067.hp1 NA19070.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19089.hp1 NA19090.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(66): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0141 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0241 a0001c0001t0002g0242	93	330	0.2818	25	c.113 others(40): Show c.113+561_113+562insCACACACACACACACACCACACAAC		DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4						chr3	TogoVar
DYNLT2B_chr3_196286219_196323240	196317479	G G	GTTGTGTG others(18): Show GTTGTGTGGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	330	0.0030	25	c.113 others(40): Show c.113+560_113+561insTCACACACACACACACACCACACAA		DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4						chr3	TogoVar
DYRK1A_chr21_37361773_37531358	37417529	C C	CTTTTTCT others(18): Show CTTTTTCTTTTTCTTTTTCTTTTTCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01943.hp1 HG01975.hp2 others(2): Show HG00741.hp2 HG01943.hp1 HG01975.hp2 NA18953.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0017 a0001c0001t0020 others(1): Show a0001c0001t0004 a0001c0001t0017 a0001c0001t0020 a0001c0001t0125	a0001c0001t0004g0227 a0001c0001t0017g0203 a0001c0001t0017g0206 others(2): Show a0001c0001t0004g0227 a0001c0001t0017g0203 a0001c0001t0017g0206 a0001c0001t0020g0198 a0001c0001t0125g0226	5	350	0.0143	25	c.-76 others(42): Show c.-76-2765_-76-2764insCTTTTTCTTTTTCTTTTTCTTTTTT		DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37479612	G G	GTTTTTGT others(18): Show GTTTTTGTTTTTGTTTTTGTTTTTGT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0039 a0001c0001t0006g0039	1	350	0.0029	25	c.301 others(42): Show c.301-1021_301-1020insGTTTTTGTTTTTGTTTTTGTTTTTT		DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37519736	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0024 a0001c0001t0062g0024	1	350	0.0029	25	c.72 others(36): Show c.7228_*7229insTTTTTTTTTTTTTTTTTTTTTTTTT		DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	12/12				7229	INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37519743	T T	TTTTTGTT others(18): Show TTTTTGTTTTGTTTTGTTTTGTTTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(61): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00639.hp1 HG00733.hp1 HG01070.hp1 HG01071.hp2 HG01169.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01361.hp2 HG01433.hp1 HG01943.hp1 HG01975.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02083.hp1 HG02132.hp2 HG02135.hp1 HG02257.hp1 HG02273.hp1 HG02683.hp1 HG03017.hp2 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG04199.hp2 NA18939.hp2 NA18952.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18983.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19012.hp2 NA19056.hp1 NA19062.hp2 NA19074.hp2 NA19076.hp2 NA19079.hp1 NA19081.hp1 NA19084.hp2 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0017 others(19): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0017 a0001c0001t0019 a0001c0001t0033 a0001c0001t0034 a0001c0001t0039 a0001c0001t0040 a0001c0001t0051 a0001c0001t0075 a0001c0001t0076 a0001c0001t0116 a0001c0001t0118 a0001c0001t0126 a0001c0001t0127 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0136 a0001c0001t0140 a0001c0001t0165	a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0002g0113 others(58): Show a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0249 a0001c0001t0011g0003 a0001c0001t0011g0337 a0001c0001t0011g0338 a0001c0001t0011g0341 a0001c0001t0017g0203 a0001c0001t0017g0204 a0001c0001t0017g0206 a0001c0001t0019g0265 a0001c0001t0019g0266 a0001c0001t0019g0267 a0001c0001t0033g0002 a0001c0001t0034g0001 a0001c0001t0039g0208 a0001c0001t0039g0235 a0001c0001t0040g0190 a0001c0001t0040g0228 a0001c0001t0051g0129 a0001c0001t0075g0250 a0001c0001t0076g0205 a0001c0001t0116g0339 a0001c0001t0118g0340 a0001c0001t0126g0239 a0001c0001t0127g0114 a0001c0001t0131g0191 a0001c0001t0132g0183 a0001c0001t0133g0241 a0001c0001t0134g0240 a0001c0001t0136g0214 a0001c0001t0140g0231 a0001c0001t0165g0174	64	350	0.1829	25	c.72 others(36): Show c.7216_*7217insGTTTTGTTTTGTTTTGTTTTGTTTT		DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	12/12				7217	INFO_REALIGN_3_PRIME	chr21	TogoVar
DZIP3_chr3_108584722_108699840	108697439	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0018 a0004c0005t0005g0018	1	318	0.0031	25	c.40 others(36): Show c.4086_*4087insAAAAAAAAAAAAAAAAAAAAAAAAA		DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding					2600		chr3	TogoVar
E2F6_chr2_11439375_11471161	11468851	A A	AATTATAT others(18): Show AATTATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0195 a0001c0001t0003g0195	1	366	0.0027	25	c.-29 others(36): Show c.-2973_-2972insATATATATATATATATATATATAAT		E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding					2691		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 NA18967.hp2 HG04115.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0044 a0001c0001t0012g0153 a0001c0001t0002g0044 a0001c0001t0012g0153	2	366	0.0055	25	c.-29 others(36): Show c.-2977_-2976insATATATATATATATTTTTTTTTTTT		E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding					2695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	366	0.0027	25	c.-29 others(36): Show c.-2977_-2976insATATATATATATATATTTTTTTTTT		E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding					2695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	366	0.0027	25	c.-29 others(36): Show c.-2977_-2976insATATATATATATATATATTTTTTTT		E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding					2695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	366	0.0027	25	c.-29 others(36): Show c.-2977_-2976insATATATATATATATATATATATATA		E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding					2695		chr2	TogoVar
E2F7_chr12_77016251_77070569	77025032	G G	GTATAGAT others(18): Show GTATAGATGTATATACATCTATGTAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01891.hp2 HG02895.hp1 others(2): Show HG01496.hp1 HG01891.hp2 HG02895.hp1 HG03579.hp1 NA19240.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0003 a0007c0015 a0001c0001 a0002c0003 a0007c0015	a0001c0001t0001 a0002c0003t0001 a0007c0015t0001 a0001c0001t0001 a0002c0003t0001 a0007c0015t0001	a0001c0001t0001g0047 a0001c0001t0001g0131 a0002c0003t0001g0150 others(1): Show a0001c0001t0001g0047 a0001c0001t0001g0131 a0002c0003t0001g0150 a0007c0015t0001g0162	5	394	0.0127	25	c.256 others(42): Show c.2565+501_2565+525dupATACATAGATGTATATACATCTATA		E2F7	ENSG00000165891.16	transcript	ENST00000322886.12	protein_coding	12/12						chr12	TogoVar
EBF2_chr8_25836725_26050413	25838165	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0034 a0001c0005t0001g0034	1	220	0.0046	25	c.64 others(36): Show c.6443_*6444insTTTTTTTTTTTTTTTTTTTTTTTTT		EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding					3559		chr8	TogoVar
EBF3_chr10_129830233_129969274	129875187	C C	CTTCTTTT others(18): Show CTTCTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	338	0.0030	25	c.637 others(42): Show c.637-1592_637-1591insAAAAAAAAAAAAAAAAAAAAAAGAA		EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	7/16						chr10	TogoVar
EBI3_chr19_4224523_4242528	4236518	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	438	0.0023	25	c.538 others(40): Show c.538-417_538-393dupAAAAAAAAAAAAAAAAAAAAAAAAA		EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
EBLN1_chr10_22203475_22223015	22209293	T T	TTTGTCCT others(18): Show TTTGTCCTTTTTCGCTGACTACTTTA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01070.hp1 HG01070.hp1	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0002 a0015c0015t0002	a0015c0015t0002g0065 a0015c0015t0002g0065	1	432	0.0023	25	c.690 others(32): Show c.690_691insTAAAGTAGTCAGCGAAAAAGGACAA	p.Lys others(5): Show p.Lys231fs	EBLN1	ENSG00000223601.3	transcript	ENST00000422359.3	protein_coding	3/3	958/1777	690/1101	230/366			chr10	TogoVar
EBP_chrX_48516808_48533716	48527937	T T	TTCTTTAG others(18): Show TTCTTTAGTTCTAGCGATATGAGTTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	311	0.0032	25	c.470 others(40): Show c.470-288_470-264dupTCTAGCGATATGAGTTATCTTTAGT		EBP	ENSG00000147155.11	transcript	ENST00000495186.6	protein_coding	4/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
ECE1_chr1_21212250_21295463	21281191	G G	GAAAACAA others(18): Show GAAAACAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	304	0.0033	25	c.139 others(42): Show c.139-1884_139-1860dupGTTTTGTTTTGTTTTGTTTTGTTTT		ECE1	ENSG00000117298.16	transcript	ENST00000374893.11	protein_coding	2/18						chr1	TogoVar
ECE1_chr1_21212250_21295463	21294057	T T	TCATTCCA others(18): Show TCATTCCAAAACCCCCCCCCTGACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	304	0.0033	25	c.-36 others(36): Show c.-3644_-3643insGGGTCAGGGGGGGGGTTTTGGAATG		ECE1	ENSG00000117298.16	transcript	ENST00000374893.11	protein_coding					3595		chr1	TogoVar
ECHDC3_chr10_11737382_11769070	11742311	G G	GGGGGCGG others(18): Show GGGGGCGGGGCGGGGCGTGCCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 NA18962.hp1 HG02129.hp1 NA18962.hp1	a0001 a0010 a0001 a0010	a0001c0002 a0010c0019 a0001c0002 a0010c0019	a0001c0002t0002 a0010c0019t0002 a0001c0002t0002 a0010c0019t0002	a0001c0002t0002g0090 a0010c0019t0002g0043 a0001c0002t0002g0090 a0010c0019t0002g0043	2	420	0.0048	25	c.-26 others(34): Show c.-266_-265insGGGGCGGGGCGGGGCGTGCCGGGGC		ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding					70		chr10	TogoVar
ECHDC3_chr10_11737382_11769070	11742341	A A	AGGGGCGT others(18): Show AGGGGCGTGCCGGGGCGGGGCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01243.hp1 HG02145.hp1 others(18): Show HG01167.hp2 HG01243.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02559.hp2 HG02818.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp2 NA19240.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0005 a0002c0006 others(4): Show a0001c0001 a0001c0005 a0002c0006 a0002c0008 a0002c0012 a0002c0013 a0009c0017	a0001c0001t0001 a0001c0005t0001 a0002c0006t0003 others(4): Show a0001c0001t0001 a0001c0005t0001 a0002c0006t0003 a0002c0008t0003 a0002c0012t0003 a0002c0013t0003 a0009c0017t0001	a0001c0001t0001g0179 a0001c0005t0001g0029 a0001c0005t0001g0188 others(12): Show a0001c0001t0001g0179 a0001c0005t0001g0029 a0001c0005t0001g0188 a0002c0006t0003g0027 a0002c0006t0003g0028 a0002c0006t0003g0181 a0002c0008t0003g0012 a0002c0008t0003g0227 a0002c0008t0003g0229 a0002c0008t0003g0230 a0002c0012t0003g0184 a0002c0012t0003g0185 a0002c0013t0003g0027 a0002c0013t0003g0180 a0009c0017t0001g0029	21	420	0.0500	25	c.-23 others(34): Show c.-236_-235insGGGGCGTGCCGGGGCGGGGCGGGGC		ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding					40		chr10	TogoVar

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