Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DAP_chr5_10674230_10766234	10761385	C C	CCGAGGGC others(11): Show CCGAGGGCGGAGGCGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0270 a0001c0001t0011g0270	1	372	0.0027	18	c.-31 others(27): Show c.-318_-317insCCTCCGCCTCCGCCCTCG	DAP	ENSG00000112977.16	transcript	ENST00000230895.11	protein_coding		152		chr5	TogoVar
DAP_chr5_10674230_10766234	10761385	C C	CCGAGGGC others(11): Show CCGAGGGCGGAGGCGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0214 a0001c0001t0008g0214	1	372	0.0027	18	c.-31 others(27): Show c.-318_-317insCCCCCGCCTCCGCCCTCG	DAP	ENSG00000112977.16	transcript	ENST00000230895.11	protein_coding		152		chr5	TogoVar
DAP_chr5_10674230_10766234	10761385	C C	CCGAGGGC others(11): Show CCGAGGGCGGGGGCGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01099.hp1 HG01109.hp2 others(30): Show HG00597.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG02004.hp2 HG02080.hp1 HG02129.hp1 HG02293.hp2 HG02683.hp2 HG02809.hp2 HG02896.hp1 HG02965.hp2 HG03041.hp2 HG03239.hp1 HG03704.hp2 HG03710.hp1 HG04204.hp1 NA18941.hp2 NA18942.hp2 NA18970.hp2 NA18985.hp2 NA18992.hp2 NA19000.hp2 NA19077.hp1 NA19084.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022	a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0051 others(27): Show a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0090 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0037 a0001c0001t0002g0079 a0001c0001t0002g0099 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0042 a0001c0001t0005g0003 a0001c0001t0005g0006 a0001c0001t0005g0032 a0001c0001t0005g0035 a0001c0001t0005g0036 a0001c0001t0005g0137 a0001c0001t0005g0138 a0001c0001t0016g0095 a0001c0001t0016g0096 a0001c0001t0021g0067 a0001c0001t0022g0094	33	372	0.0887	18	c.-31 others(27): Show c.-318_-317insCCCCCGCCCCCGCCCTCG	DAP	ENSG00000112977.16	transcript	ENST00000230895.11	protein_coding		152		chr5	TogoVar
DARS1_chr2_135900881_135990626	135907242	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0249 a0001c0001t0025g0249	1	378	0.0027	18	c.56 others(25): Show c.56_*73dupAAAAAAAAAAAAAAAAAA	DARS1	ENSG00000115866.11	transcript	ENST00000264161.9	protein_coding	16/16	73		chr2	TogoVar
DARS2_chr1_173819673_173863546	173825448	C C	CTATTATT others(11): Show CTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	344	0.0029	18	c.127 others(31): Show c.127+92_127+93insTATTATTATTATTATTAT	DARS2	ENSG00000117593.12	transcript	ENST00000649689.2	protein_coding	1/16			chr1	TogoVar
DARS2_chr1_173819673_173863546	173825449	C C	CATTATTA others(11): Show CATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02109.hp2 HG02698.hp2 others(5): Show HG00544.hp2 HG02109.hp2 HG02698.hp2 HG02922.hp1 HG03704.hp1 HG03834.hp2 NA18950.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0008 a0001c0001t0001 a0002c0002t0008	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(5): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0002c0002t0008g0028	8	344	0.0233	18	c.127 others(33): Show c.127+112_127+129dupATTATTATTATTATTATT	DARS2	ENSG00000117593.12	transcript	ENST00000649689.2	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
DAW1_chr2_227866631_227929344	227868009	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0322 a0002c0005t0003g0322	1	340	0.0029	18	c.-36 others(29): Show c.-3681_-3680insTTTTTTTTTTTTTTTTTT	DAW1	ENSG00000123977.10	transcript	ENST00000309931.3	protein_coding		3621		chr2	TogoVar
DAW1_chr2_227866631_227929344	227910495	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01257.hp2 HG01361.hp2 others(4): Show HG00323.hp1 HG01257.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG02683.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0197 a0001c0001t0001g0289 others(4): Show a0001c0001t0001g0121 a0001c0001t0001g0197 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0304	7	340	0.0206	18	c.973 others(35): Show c.973+3256_973+3273dupACACACACACACACACAC	DAW1	ENSG00000123977.10	transcript	ENST00000309931.3	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DAZAP1_chr19_1402586_1440684	1407280	T T	TCGCGCAA others(11): Show TCGCGCAAGCGCGCACGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	374	0.0027	18	c.-49 others(27): Show c.-494_-493insCGCGCAAGCGCGCACGCG	DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding		305		chr19	TogoVar
DAZAP1_chr19_1402586_1440684	1407290	G G	GCGCACGC others(11): Show GCGCACGCGCGCGCAAGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	374	0.0027	18	c.-48 others(27): Show c.-484_-483insCGCACGCGCGCGCAAGCC	DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding		295		chr19	TogoVar
DAZAP1_chr19_1402586_1440684	1407300	A A	ACGCAAGC others(11): Show ACGCAAGCCCGCACGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 NA20300.hp1 HG03139.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0005 a0001c0009t0001 a0001c0001t0005 a0001c0009t0001	a0001c0001t0005g0032 a0001c0009t0001g0031 a0001c0001t0005g0032 a0001c0009t0001g0031	2	374	0.0054	18	c.-47 others(27): Show c.-474_-473insCGCAAGCCCGCACGCGCG	DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding		285		chr19	TogoVar
DAZAP1_chr19_1402586_1440684	1407619	A A	AGCCGCCG others(11): Show AGCCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00741.hp1 others(11): Show HG00323.hp2 HG00642.hp1 HG00741.hp1 HG01168.hp1 HG01175.hp1 HG01255.hp1 HG01346.hp2 HG02451.hp1 HG03209.hp2 HG03490.hp1 HG03492.hp1 HG03831.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0014 a0001c0001t0016 a0001c0001t0033 others(3): Show a0001c0001t0014 a0001c0001t0016 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0003t0014	a0001c0001t0014g0170 a0001c0001t0014g0212 a0001c0001t0014g0244 others(10): Show a0001c0001t0014g0170 a0001c0001t0014g0212 a0001c0001t0014g0244 a0001c0001t0014g0262 a0001c0001t0014g0263 a0001c0001t0016g0002 a0001c0001t0016g0008 a0001c0001t0016g0189 a0001c0001t0016g0246 a0001c0001t0033g0164 a0001c0001t0034g0267 a0001c0001t0035g0002 a0001c0003t0014g0130	14	374	0.0374	18	c.-12 others(27): Show c.-129_-112dupCCGCCGCCGCCGCCGCCG	DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding	1/12	111	INFO_REALIGN_3_PRIME	chr19	TogoVar
DAZAP1_chr19_1402586_1440684	1415353	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0155 a0001c0001t0010g0155	1	374	0.0027	18	c.30- others(33): Show c.30-2127_30-2110dupGTGTGTGTGTGTGTGTGT	DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
DAZL_chr3_16581792_16610423	16609575	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG02135.hp1 HG02896.hp2 others(7): Show HG01255.hp1 HG02135.hp1 HG02896.hp2 HG02897.hp2 HG03017.hp1 HG03471.hp1 HG03834.hp2 HG04204.hp2 NA19081.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0011 a0002c0002t0001 a0001c0001t0006 a0001c0001t0011 a0002c0002t0001	a0001c0001t0006g0021 a0001c0001t0011g0058 a0002c0002t0001g0008 others(5): Show a0001c0001t0006g0021 a0001c0001t0011g0058 a0002c0002t0001g0008 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0040 a0002c0002t0001g0130 a0002c0002t0001g0133	10	446	0.0224	18	c.-43 others(29): Show c.-4388_-4371dupACACACACACACACACAC	DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding		4153		chr3	TogoVar
DAZL_chr3_16581792_16610423	16609596	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01515.hp2 HG01517.hp2 others(2): Show HG00733.hp2 HG01515.hp2 HG01517.hp2 HG01934.hp1 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0020 a0002c0002t0001 a0001c0001t0001 a0001c0001t0020 a0002c0002t0001	a0001c0001t0001g0036 a0001c0001t0020g0096 a0002c0002t0001g0015 a0001c0001t0001g0036 a0001c0001t0020g0096 a0002c0002t0001g0015	5	446	0.0112	18	c.-43 others(29): Show c.-4392_-4391insTACACACACACACACACA	DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding		4174		chr3	TogoVar
DBF4B_chr17_44703665_44757264	44725684	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18944.hp2 NA18965.hp1 others(1): Show HG03579.hp2 NA18944.hp2 NA18965.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0196 a0001c0001t0002g0041 a0001c0001t0002g0048 others(1): Show a0001c0001t0001g0196 a0001c0001t0002g0041 a0001c0001t0002g0048 a0001c0001t0002g0049	4	288	0.0139	18	c.225 others(35): Show c.225+2665_225+2682dupTTTTTTTTTTTTTTTTTT	DBF4B	ENSG00000161692.18	transcript	ENST00000315005.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DBH_chr9_133631363_133664329	133654116	A A	ATTTTATT others(11): Show ATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0060 a0002c0003t0001g0060	1	402	0.0025	18	c.143 others(37): Show c.1434+1118_1434+1119insTTTATTTTATTTTATTTT	DBH	ENSG00000123454.12	transcript	ENST00000393056.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
DBNDD1_chr16_89999871_90024456	90013262	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02818.hp1 HG03195.hp1 others(3): Show HG02723.hp1 HG02818.hp1 HG03195.hp1 HG03669.hp1 NA18967.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0073 a0001c0001t0001g0086 a0001c0001t0001g0103 others(3): Show a0001c0001t0001g0073 a0001c0001t0001g0086 a0001c0001t0001g0103 a0001c0001t0001g0131 a0001c0001t0001g0141 a0001c0001t0003g0193	6	412	0.0146	18	c.32- others(33): Show c.32-3850_32-3833dupTTTTTTTTTTTTTTTTTT	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	1/3			chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90024123	T T	TACACACA others(11): Show TACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG04184.hp1 HG04184.hp2 others(4): Show HG02486.hp2 HG04184.hp1 HG04184.hp2 NA18945.hp1 NA19054.hp1 NA19054.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0051 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0085 a0001c0001t0001g0096 a0001c0001t0001g0117	7	412	0.0170	18	c.-47 others(29): Show c.-4783_-4782insGTGTGTGTGTGTGTGTGT	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		4668		chr16	TogoVar
DBNL_chr7_44039702_44074456	44042935	T T	TATATATA others(11): Show TATATATATACACATATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01109.hp2 HG01243.hp1 others(28): Show HG00741.hp2 HG01109.hp2 HG01243.hp1 HG01346.hp2 HG01433.hp2 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02451.hp1 HG02615.hp1 HG02622.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp2 HG06807.hp1 NA18940.hp1 NA18944.hp1 NA19007.hp2 NA19077.hp1 NA19091.hp1 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0007 a0001c0002t0009 a0001c0002t0011 others(6): Show a0001c0002t0007 a0001c0002t0009 a0001c0002t0011 a0001c0002t0013 a0001c0002t0039 a0001c0002t0042 a0001c0002t0043 a0001c0002t0046 a0001c0006t0013	a0001c0002t0007g0015 a0001c0002t0007g0021 a0001c0002t0007g0111 others(12): Show a0001c0002t0007g0015 a0001c0002t0007g0021 a0001c0002t0007g0111 a0001c0002t0007g0114 a0001c0002t0007g0115 a0001c0002t0007g0116 a0001c0002t0009g0011 a0001c0002t0011g0027 a0001c0002t0011g0048 a0001c0002t0013g0020 a0001c0002t0039g0108 a0001c0002t0042g0015 a0001c0002t0043g0113 a0001c0002t0046g0112 a0001c0006t0013g0020	31	380	0.0816	18	c.-18 others(29): Show c.-1803_-1802insATATATATACACATATGC	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1766		chr7	TogoVar
DBX2_chr12_45009672_45056099	45031225	T T	TGTGTGTG others(11): Show TGTGTGTGTGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19078.hp2 NA19055.hp1 NA19078.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0004 a0001c0003t0003 a0001c0003t0004	a0001c0003t0003g0322 a0001c0003t0004g0307 a0001c0003t0003g0322 a0001c0003t0004g0307	2	416	0.0048	18	c.499 others(35): Show c.499+4793_499+4794insTCTCTCTCTCACACACAC	DBX2	ENSG00000185610.6	transcript	ENST00000332700.6	protein_coding	2/3			chr12	TogoVar
DBX2_chr12_45009672_45056099	45031225	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02040.hp2 HG02071.hp1 others(9): Show HG00558.hp1 HG02040.hp2 HG02071.hp1 HG03491.hp2 HG03492.hp2 NA18747.hp2 NA18948.hp1 NA18950.hp1 NA18967.hp2 NA18993.hp2 NA19005.hp1 NA19058.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0007c0012 a0001c0001 a0001c0003 a0007c0012	a0001c0001t0001 a0001c0003t0003 a0007c0012t0003 a0001c0001t0001 a0001c0003t0003 a0007c0012t0003	a0001c0001t0001g0031 a0001c0003t0003g0042 a0001c0003t0003g0314 others(7): Show a0001c0001t0001g0031 a0001c0003t0003g0042 a0001c0003t0003g0314 a0001c0003t0003g0317 a0001c0003t0003g0318 a0001c0003t0003g0319 a0001c0003t0003g0320 a0001c0003t0003g0325 a0001c0003t0003g0326 a0007c0012t0003g0341	12	416	0.0289	18	c.499 others(35): Show c.499+4793_499+4794insTCTCTCTCACACACACAC	DBX2	ENSG00000185610.6	transcript	ENST00000332700.6	protein_coding	2/3			chr12	TogoVar
DBX2_chr12_45009672_45056099	45031225	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	416	0.0024	18	c.499 others(35): Show c.499+4793_499+4794insTCTCACACACACACACAC	DBX2	ENSG00000185610.6	transcript	ENST00000332700.6	protein_coding	2/3			chr12	TogoVar
DBX2_chr12_45009672_45056099	45031225	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	416	0.0024	18	c.499 others(35): Show c.499+4793_499+4794insTCACACACACACACACAC	DBX2	ENSG00000185610.6	transcript	ENST00000332700.6	protein_coding	2/3			chr12	TogoVar
DCAF10_chr9_37795797_37872664	37814080	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0262 a0001c0001t0045g0262	1	356	0.0028	18	c.540 others(35): Show c.540-5178_540-5161dupATATATATATATATATAT	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCAF10_chr9_37795797_37872664	37816659	G G	GGGGGGGG others(11): Show GGGGGGGGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0035 a0001c0001t0015g0035	1	356	0.0028	18	c.540 others(35): Show c.540-2628_540-2627insGGGGGGTGTGTGTGTGTG	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCAF10_chr9_37795797_37872664	37816659	G G	GGGGGGTG others(11): Show GGGGGGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18972.hp1 HG03209.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0015 a0001c0001t0005 a0001c0001t0015	a0001c0001t0005g0024 a0001c0001t0015g0032 a0001c0001t0005g0024 a0001c0001t0015g0032	2	356	0.0056	18	c.540 others(35): Show c.540-2628_540-2627insGGGGTGTGTGTGTGTGTG	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCAF10_chr9_37795797_37872664	37816659	G G	GGGGTGTG others(11): Show GGGGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA19004.hp1 NA21309.hp2 HG01496.hp2 NA19004.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0063 a0001c0001t0005 a0001c0001t0063	a0001c0001t0005g0018 a0001c0001t0005g0038 a0001c0001t0063g0039 a0001c0001t0005g0018 a0001c0001t0005g0038 a0001c0001t0063g0039	3	356	0.0084	18	c.540 others(35): Show c.540-2628_540-2627insGGTGTGTGTGTGTGTGTG	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCAF10_chr9_37795797_37872664	37821090	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0045 a0001c0001t0008g0045	1	356	0.0028	18	c.653 others(35): Show c.653+1704_653+1705insTATATATATATATATATA	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCAF10_chr9_37795797_37872664	37822404	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG02040.hp1 others(2): Show HG00099.hp2 HG00438.hp1 HG02040.hp1 HG02071.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0035 a0001c0002t0004 a0001c0001t0003 a0001c0001t0035 a0001c0002t0004	a0001c0001t0003g0084 a0001c0001t0003g0144 a0001c0001t0003g0161 others(2): Show a0001c0001t0003g0084 a0001c0001t0003g0144 a0001c0001t0003g0161 a0001c0001t0035g0154 a0001c0002t0004g0178	5	356	0.0140	18	c.653 others(35): Show c.653+3024_653+3041dupATATATATATATATATAT	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCAF10_chr9_37795797_37872664	37850826	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18950.hp2 HG01109.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0102 a0001c0001t0002g0258 a0001c0001t0001g0102 a0001c0001t0002g0258	2	356	0.0056	18	c.852 others(35): Show c.852-3915_852-3898dupTATATATATATATATATA	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCAF10_chr9_37795797_37872664	37852930	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0297	1	356	0.0028	18	c.852 others(35): Show c.852-1831_852-1814dupTATATATATATATATATA	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCAF17_chr2_171429226_171490052	171460543	A A	ATTATTAT others(11): Show ATTATTATTATTATTATTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00621.hp1 others(27): Show HG00280.hp2 HG00408.hp1 HG00621.hp1 HG01081.hp1 HG01167.hp2 HG01192.hp1 HG01346.hp2 HG02300.hp2 HG02615.hp1 HG02886.hp2 HG03130.hp1 HG03654.hp1 NA18612.hp2 NA18947.hp1 NA18966.hp1 NA18972.hp2 NA18973.hp1 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18991.hp2 NA18994.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19088.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0002 a0001c0002t0023 a0001c0009t0002 a0001c0002t0002 a0001c0002t0023 a0001c0009t0002	a0001c0002t0002g0003 a0001c0002t0002g0025 a0001c0002t0002g0026 others(21): Show a0001c0002t0002g0003 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0028 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0096 a0001c0002t0002g0111 a0001c0002t0002g0116 a0001c0002t0023g0025 a0001c0009t0002g0140	30	360	0.0833	18	c.838 others(35): Show c.838+2066_838+2067insTTATTATTATTATTATTT	DCAF17	ENSG00000115827.14	transcript	ENST00000375255.8	protein_coding	8/13			chr2	TogoVar
DCAF1_chr3_51392842_51505015	51446963	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG04115.hp2 HG00544.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0112 a0001c0001t0001g0072 a0001c0001t0001g0112	2	274	0.0073	18	c.376 others(35): Show c.376-3078_376-3061dupATTATTATTATTATTATT	DCAF1	ENSG00000145041.17	transcript	ENST00000684031.1	protein_coding	6/24			chr3	TogoVar
DCAF1_chr3_51392842_51505015	51446999	T T	TAATAATA others(11): Show TAATAATAATAATAATAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01243.hp2 NA20905.hp1 others(1): Show HG00673.hp1 HG01243.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0081 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0081 a0001c0001t0001g0084	4	274	0.0146	18	c.376 others(35): Show c.376-3097_376-3096insTTTATTATTATTATTATT	DCAF1	ENSG00000145041.17	transcript	ENST00000684031.1	protein_coding	6/24			chr3	TogoVar
DCAF4_chr14_72921464_72964703	72928187	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp2 NA18985.hp1 NA18970.hp1 NA18970.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104	3	396	0.0076	18	c.-9+ others(33): Show c.-9+1650_-9+1667dupTTTTTTTTTTTTTTTTTT	DCAF4	ENSG00000119599.17	transcript	ENST00000358377.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DCAF4_chr14_72921464_72964703	72953730	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	396	0.0025	18	c.809 others(33): Show c.809-433_809-432insTATATATATATATATATA	DCAF4	ENSG00000119599.17	transcript	ENST00000358377.7	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DCAF4_chr14_72921464_72964703	72953732	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA19030.hp1 HG00735.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0008 a0001c0001t0002 a0001c0007t0008	a0001c0001t0002g0368 a0001c0007t0008g0345 a0001c0001t0002g0368 a0001c0007t0008g0345	2	396	0.0051	18	c.809 others(33): Show c.809-431_809-430insAAAAAATATATATATATA	DCAF4	ENSG00000119599.17	transcript	ENST00000358377.7	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DCAF5_chr14_69045881_69158119	69102591	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01255.hp1 HG01261.hp1 others(9): Show HG00099.hp1 HG01255.hp1 HG01261.hp1 HG03041.hp1 HG03453.hp2 HG03471.hp1 HG03927.hp1 HG04228.hp1 NA18906.hp2 NA18972.hp1 NA19083.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015	a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0003g0027 others(9): Show a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0003g0027 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0040 a0001c0001t0003g0087 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0188 a0001c0001t0015g0092	12	244	0.0492	18	c.666 others(37): Show c.666-10722_666-10705dupGTGTGTGTGTGTGTGTGT	DCAF5	ENSG00000139990.18	transcript	ENST00000341516.10	protein_coding	5/8			chr14	TogoVar
DCAF5_chr14_69045881_69158119	69105914	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02165.hp2 NA19070.hp2 others(1): Show HG00280.hp2 HG02165.hp2 NA19070.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0137 a0001c0001t0002g0082 a0001c0001t0003g0056 others(1): Show a0001c0001t0001g0137 a0001c0001t0002g0082 a0001c0001t0003g0056 a0001c0001t0008g0044	4	244	0.0164	18	c.665 others(37): Show c.665+10434_665+10451dupATATATATATATATATAT	DCAF5	ENSG00000139990.18	transcript	ENST00000341516.10	protein_coding	5/8			chr14	TogoVar
DCAF5_chr14_69045881_69158119	69112594	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02896.hp2 HG02145.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0110 a0001c0003t0002g0118 a0001c0003t0002g0110 a0001c0003t0002g0118	2	244	0.0082	18	c.665 others(35): Show c.665+3754_665+3771dupGTGTGTGTGTGTGTGTGT	DCAF5	ENSG00000139990.18	transcript	ENST00000341516.10	protein_coding	5/8			chr14	TogoVar
DCAF6_chr1_167931683_168080836	167992252	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01934.hp2 HG01952.hp1 others(6): Show HG00673.hp1 HG01934.hp2 HG01952.hp1 HG02897.hp2 HG04184.hp2 NA19006.hp2 NA19065.hp2 NA19075.hp2 NA19086.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0009c0009 a0001c0002 a0009c0009	a0001c0002t0001 a0001c0002t0004 a0009c0009t0001 a0001c0002t0001 a0001c0002t0004 a0009c0009t0001	a0001c0002t0001g0002 a0001c0002t0001g0187 a0001c0002t0001g0194 others(6): Show a0001c0002t0001g0002 a0001c0002t0001g0187 a0001c0002t0001g0194 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0221 a0001c0002t0001g0266 a0001c0002t0004g0206 a0009c0009t0001g0212	9	266	0.0338	18	c.688 others(33): Show c.688+927_689-943dupCACACACACACACACACA	DCAF6	ENSG00000143164.16	transcript	ENST00000367840.4	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
DCAF7_chr17_63545477_63599266	63564136	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA18947.hp2 NA18952.hp2 others(1): Show HG00323.hp1 NA18947.hp2 NA18952.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0100 others(1): Show a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0171	4	262	0.0153	18	c.138 others(37): Show c.138+13331_138+13348dupCACACACACACACACACA	DCAF7	ENSG00000136485.16	transcript	ENST00000614556.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DCAF7_chr17_63545477_63599266	63588189	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA19043.hp2 HG04199.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0190 a0001c0001t0014g0203 a0001c0001t0001g0190 a0001c0001t0014g0203	2	262	0.0076	18	c.857 others(33): Show c.857-795_857-794insTTTTTTTTTTTTTTTTTT	DCAF7	ENSG00000136485.16	transcript	ENST00000614556.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DCAF8L2_chrX_27585344_27754942	27587985	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0003	a0007c0008t0003g0076 a0007c0008t0003g0076	1	262	0.0038	18	c.-27 others(29): Show c.-2797_-2796insAAAAAAAAAAAAATATAT	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding		2358		chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27587985	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0065 a0004c0004t0003g0065	1	262	0.0038	18	c.-27 others(29): Show c.-2797_-2796insAAAAAAAAATATATATAT	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding		2358		chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27587985	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0073 a0001c0005t0003g0073	1	262	0.0038	18	c.-27 others(29): Show c.-2797_-2796insAAAAATATATATATATAT	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding		2358		chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27590991	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG01081.hp1 others(9): Show HG00280.hp1 HG00735.hp1 HG01081.hp1 HG01358.hp1 HG01496.hp1 HG02683.hp1 HG02735.hp1 HG03453.hp1 HG03492.hp1 NA18940.hp1 NA18948.hp1 NA18971.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0010 a0016	a0001c0002 a0002c0001 a0003c0003 others(3): Show a0001c0002 a0002c0001 a0003c0003 a0004c0004 a0010c0013 a0016c0020	a0001c0002t0002 a0002c0001t0001 a0003c0003t0001 others(3): Show a0001c0002t0002 a0002c0001t0001 a0003c0003t0001 a0004c0004t0007 a0010c0013t0001 a0016c0020t0001	a0001c0002t0002g0127 a0001c0002t0002g0130 a0001c0002t0002g0131 others(9): Show a0001c0002t0002g0127 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0205 a0001c0002t0002g0206 a0002c0001t0001g0129 a0002c0001t0001g0202 a0003c0003t0001g0204 a0003c0003t0001g0208 a0004c0004t0007g0207 a0010c0013t0001g0203 a0016c0020t0001g0128	12	262	0.0458	18	c.-34 others(35): Show c.-342+558_-342+575dupTATATATATATATATATA	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27590991	T T	TTTTATAT others(11): Show TTTTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01928.hp1 others(2): Show HG01069.hp1 HG01071.hp2 HG01928.hp1 HG02300.hp1 HG03688.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0001 a0001c0002t0002 a0002c0001t0001	a0001c0002t0002g0142 a0002c0001t0001g0252 a0002c0001t0001g0253 others(2): Show a0001c0002t0002g0142 a0002c0001t0001g0252 a0002c0001t0001g0253 a0002c0001t0001g0254 a0002c0001t0001g0255	5	262	0.0191	18	c.-34 others(35): Show c.-342+552_-342+553insTTATATATATATATATAT	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27591014	T T	TATATATA others(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0188 a0003c0003t0001g0188	1	262	0.0038	18	c.-34 others(35): Show c.-342+575_-342+576insTATATATATATATATAAA	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar

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