Joint Open Genome and Omics Platform (JoGo)

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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
ARV1_chr1_230974094_231005733	230986668	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0031 a0001c0004t0001g0031	1	145	0.0069	22	c.175 others(39): Show c.175-1635_175-1614dupTTTTTTTTTTTTTTTTTTTTTT	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARX_chrX_24998694_25020965	25018639	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	110	0.0091	22	c.-29 others(33): Show c.-2903_-2902insTATATATATATATATATATATA	ARX	ENSG00000004848.8	transcript	ENST00000379044.5	protein_coding		2675		chrX	TogoVar
AR_chrX_67539021_67735619	67723312	C C	CTCTGTGT others(15): Show CTCTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0010 a0001c0009t0010	a0001c0009t0010g0113 a0001c0009t0010g0113	1	94	0.0106	22	c.260 others(39): Show c.2607+329_2607+330insCTGTGTGTGTGTGTGTGTGTGT	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG03942.hp1 HG01952.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0017 a0001c0001t0002 a0001c0002t0017	a0001c0001t0002g0137 a0001c0002t0017g0043 a0001c0001t0002g0137 a0001c0002t0017g0043	2	113	0.0177	22	c.55 others(33): Show c.5576_*5577insAAAAAAATATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01943.hp1 NA18522.hp1 others(3): Show HG01243.hp2 HG01943.hp1 NA18522.hp1 NA18973.hp1 NA18975.hp2 NA19067.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0012 a0001c0001 a0001c0002 a0002c0012	a0001c0001t0002 a0001c0002t0004 a0002c0012t0006 a0001c0001t0002 a0001c0002t0004 a0002c0012t0006	a0001c0001t0002g0116 a0001c0001t0002g0146 a0001c0002t0004g0035 others(3): Show a0001c0001t0002g0116 a0001c0001t0002g0146 a0001c0002t0004g0035 a0001c0002t0004g0037 a0001c0002t0004g0064 a0002c0012t0006g0169	6	117	0.0513	22	c.55 others(33): Show c.5576_*5577insAAAAATATATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0060 a0001c0001t0008g0060	1	112	0.0089	22	c.55 others(33): Show c.5576_*5577insAAATATATATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
ASAP1_chr8_130047104_130448674	130048983	C C	CGGAGAAC others(15): Show CGGAGAACACATGGGGGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02300.hp2 HG02004.hp1 HG02300.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0017 a0002c0003t0001g0031 a0002c0003t0001g0017 a0002c0003t0001g0031	2	306	0.0065	22	c.57 others(33): Show c.5747_*5748insTCTGCCCCCCCATGTGTTCTCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		3120		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049350	T T	TGGAGGGC others(15): Show TGGAGGGCAGAGGGGAACACATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	248	0.0040	22	c.53 others(33): Show c.5380_*5381insCATGTGTTCCCCTCTGCCCTCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2753		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049350	T T	TGGGGGGC others(15): Show TGGGGGGCAGAGGAGAACACATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0040 a0001c0001t0008g0040	1	248	0.0040	22	c.53 others(33): Show c.5380_*5381insCATGTGTTCTCCTCTGCCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2753		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049557	T T	TGGGGGGC others(15): Show TGGGGGGCAGAGGGGAACACATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0007 a0001c0001t0009g0007	1	265	0.0038	22	c.51 others(33): Show c.5173_*5174insCATGTGTTCCCCTCTGCCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2546		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049673	G G	GGGAACAC others(15): Show GGGAACACATGGGGGGCAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	216	0.0046	22	c.50 others(33): Show c.5057_*5058insTCCTCTGCCCCCCATGTGTTCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2430		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049918	A A	AGGGGAAC others(15): Show AGGGGAACACATGGGGGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0268 a0002c0002t0001g0268	1	287	0.0035	22	c.48 others(33): Show c.4812_*4813insCTCTGCCCCCCATGTGTTCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2185		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050259	C C	CATGGGGG others(15): Show CATGGGGGCAGAGGGGAATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG02004.hp2 HG04204.hp2 others(1): Show HG00738.hp1 HG02004.hp2 HG04204.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0162 others(1): Show a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0162 a0001c0001t0002g0188	4	247	0.0162	22	c.44 others(33): Show c.4471_*4472insATGTATTCCCCTCTGCCCCCAT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1844		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072791	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0019 a0003c0010t0019	a0003c0010t0019g0287 a0003c0010t0019g0287	1	184	0.0054	22	c.270 others(41): Show c.2701+3556_2701+3557insCACACACACACACACACACACA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGCG others(15): Show TGTGTGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	152	0.0066	22	c.270 others(41): Show c.2701+3523_2701+3524insGCGCGCGCGCGCGCGCGCACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	152	0.0066	22	c.270 others(41): Show c.2701+3523_2701+3524insGCGCGCACACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0198 a0001c0001t0017g0198	1	152	0.0066	22	c.270 others(41): Show c.2701+3523_2701+3524insGCGCACACACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19007.hp1 NA19005.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0169 a0001c0001t0002g0027 a0001c0001t0002g0169	2	153	0.0131	22	c.270 others(41): Show c.2701+3523_2701+3524insGCACACACACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072825	G G	GTGCGTGT others(15): Show GTGCGTGTGCGCGCGCGCGCGCA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG00621.hp1 others(31): Show HG00323.hp2 HG00558.hp1 HG00621.hp1 HG00673.hp1 HG00735.hp1 HG01168.hp2 HG01169.hp2 HG01258.hp2 HG01516.hp2 HG01517.hp1 HG02027.hp1 HG02040.hp2 HG02083.hp2 HG02300.hp1 HG03239.hp2 HG03490.hp1 HG03654.hp2 HG03704.hp2 HG04199.hp1 HG04228.hp2 NA18747.hp1 NA18940.hp1 NA18950.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18975.hp2 NA19002.hp2 NA19003.hp2 NA19011.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(2): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0015 a0002c0002t0020	a0002c0002t0001g0137 a0002c0002t0003g0059 a0002c0002t0003g0065 others(31): Show a0002c0002t0001g0137 a0002c0002t0003g0059 a0002c0002t0003g0065 a0002c0002t0003g0082 a0002c0002t0003g0083 a0002c0002t0003g0106 a0002c0002t0003g0113 a0002c0002t0003g0115 a0002c0002t0003g0118 a0002c0002t0003g0120 a0002c0002t0003g0123 a0002c0002t0003g0126 a0002c0002t0003g0128 a0002c0002t0003g0130 a0002c0002t0003g0134 a0002c0002t0003g0135 a0002c0002t0003g0138 a0002c0002t0003g0139 a0002c0002t0003g0141 a0002c0002t0003g0152 a0002c0002t0003g0237 a0002c0002t0003g0238 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0003g0251 a0002c0002t0003g0257 a0002c0002t0003g0258 a0002c0002t0003g0262 a0002c0002t0003g0274 a0002c0002t0004g0112 a0002c0002t0004g0230 a0002c0002t0004g0231 a0002c0002t0015g0116 a0002c0002t0020g0299	34	242	0.1405	22	c.270 others(41): Show c.2701+3522_2701+3523insTGCGCGCGCGCGCGCACACGCA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130093686	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0288 a0001c0006t0005g0288	1	247	0.0040	22	c.240 others(41): Show c.2402-1544_2402-1543insCTTTTTTTTTTTTTTTTTTTTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130217537	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0132 a0002c0002t0016g0132	1	153	0.0065	22	c.260 others(39): Show c.260-2858_260-2837dupGTGTGTGTGTGTGTGTGTGTGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	4/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130256751	A A	ATATATAT others(15): Show ATATATATATATATATATATCCT	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18944.hp1 HG04184.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0114 a0002c0002t0003g0119 a0002c0002t0003g0114 a0002c0002t0003g0119	2	306	0.0065	22	c.187 others(41): Show c.187-19758_187-19757insAGGATATATATATATATATATA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130256753	A A	ATATATAT others(15): Show ATATATATATATATATATATCCT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0252 a0002c0002t0003g0252	1	304	0.0033	22	c.187 others(41): Show c.187-19760_187-19759insAGGATATATATATATATATATA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276728	A A	ACACACAC others(15): Show ACACACACACACACACTCTCTCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0033 a0002c0002t0002g0033	1	112	0.0089	22	c.187 others(41): Show c.187-39735_187-39734insAGAGAGAGTGTGTGTGTGTGTG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276728	A A	ACACACAC others(15): Show ACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0114 a0002c0002t0003g0114	1	112	0.0089	22	c.187 others(41): Show c.187-39735_187-39734insAGAGAGAGAGAGAGTGTGTGTG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276728	A A	ACACACTC others(15): Show ACACACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0275 a0002c0002t0003g0275	1	112	0.0089	22	c.187 others(41): Show c.187-39735_187-39734insAGAGAGAGAGAGAGAGAGTGTG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276760	T T	TCTCTCTC others(15): Show TCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0017 a0002c0003t0001g0017	1	262	0.0038	22	c.187 others(41): Show c.187-39767_187-39766insGGAGAGAGAGAGAGAGAGAGAG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300153	C C	CACACACA others(15): Show CACACACAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0083 a0002c0002t0003g0083	1	125	0.0080	22	c.186 others(41): Show c.186+57863_186+57864insCTCTCTCTCTCTCTCTGTGTGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300153	C C	CACACAGA others(15): Show CACACAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0129 a0002c0002t0003g0129	1	125	0.0080	22	c.186 others(41): Show c.186+57863_186+57864insCTCTCTCTCTCTCTCTCTGTGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300153	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0302 a0001c0001t0013g0302	1	125	0.0080	22	c.186 others(41): Show c.186+57842_186+57863dupCTCTCTCTCTCTCTCTCTCTCT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP2_chr2_9201812_9410678	9254254	T T	TATATATA others(15): Show TATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00673.hp2 HG00735.hp1 others(9): Show HG00639.hp1 HG00673.hp2 HG00735.hp1 HG01167.hp2 HG01515.hp1 HG02523.hp1 HG02698.hp1 HG03453.hp1 HG04199.hp2 HG06807.hp2 NA19091.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0001c0002t0023 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0023 a0001c0003t0011 a0001c0003t0021 a0001c0004t0005 a0002c0001t0001 a0002c0001t0003	a0001c0002t0001g0097 a0001c0002t0002g0060 a0001c0002t0002g0107 others(9): Show a0001c0002t0001g0097 a0001c0002t0002g0060 a0001c0002t0002g0107 a0001c0002t0002g0137 a0001c0002t0002g0139 a0001c0002t0002g0187 a0001c0002t0023g0008 a0001c0003t0011g0068 a0001c0003t0021g0040 a0001c0004t0005g0041 a0002c0001t0001g0012 a0002c0001t0003g0136	12	116	0.1034	22	c.127 others(41): Show c.127-25062_127-25061insTATATATATATATACACACACA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254254	T T	TATATATA others(15): Show TATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03471.hp1 NA21309.hp2 HG03130.hp1 HG03471.hp1 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0034 a0001c0004t0005g0035 a0001c0004t0005g0144 a0001c0004t0005g0034 a0001c0004t0005g0035 a0001c0004t0005g0144	3	107	0.0280	22	c.127 others(41): Show c.127-25062_127-25061insTATATATATATATATACACACA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP3_chr1_23423563_23489179	23473974	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0163 a0006c0013t0001g0163	1	53	0.0189	22	c.129 others(41): Show c.129+10009_129+10030dupAAAAAAAAAAAAAAAAAAAAAA	ASAP3	ENSG00000088280.21	transcript	ENST00000336689.8	protein_coding	1/24			chr1	TogoVar
ASB14_chr3_57263342_57297685	57284094	A A	ATGTATGT others(15): Show ATGTATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	4	0.2500	22	c.470 others(37): Show c.470-656_470-655insCACACACACACACACACATACA	ASB14	ENSG00000239388.10	transcript	ENST00000487349.6	protein_coding	5/10			chr3	TogoVar
ASB14_chr3_57263342_57297685	57284094	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(28): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG01069.hp1 HG01433.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02040.hp1 HG02965.hp2 HG03540.hp1 HG04115.hp2 HG04228.hp2 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18946.hp1 NA18951.hp1 NA18962.hp2 NA18980.hp2 NA18999.hp2 NA19009.hp2 NA19056.hp1 NA19056.hp2 NA19065.hp1 NA19074.hp1 NA19079.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0157 a0002c0002t0003g0195 a0002c0002t0003g0197	31	34	0.9118	22	c.470 others(37): Show c.470-677_470-656dupCACACACACACACACACACACA	ASB14	ENSG00000239388.10	transcript	ENST00000487349.6	protein_coding	5/10			chr3	TogoVar
ASB15_chr7_123596821_123644481	123603492	T T	TGGTGTCT others(15): Show TGGTGTCTTTAAGAGGGTTTGTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG02809.hp1 others(1): Show HG02451.hp1 HG02486.hp1 HG02809.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0022 a0001c0002t0044 a0001c0002t0001 a0001c0002t0022 a0001c0002t0044	a0001c0002t0001g0217 a0001c0002t0022g0214 a0001c0002t0022g0215 others(1): Show a0001c0002t0001g0217 a0001c0002t0022g0214 a0001c0002t0022g0215 a0001c0002t0044g0216	4	378	0.0106	22	c.-24 others(39): Show c.-244-538_-244-517dupGTGTCTTTAAGAGGGTTTGTAG	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123637646	A A	ATCTTAAG others(15): Show ATCTTAAGCCCTCTTCTCTTTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0031 a0005c0007t0031	a0005c0007t0031g0230 a0005c0007t0031g0230	1	378	0.0026	22	c.67 others(31): Show c.670_*691dupAAGCCCTCTTCTCTTTGTTCTT	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	12/12	692	INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123637878	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG01071.hp2 HG01261.hp2 others(7): Show HG00099.hp2 HG01071.hp2 HG01261.hp2 HG01978.hp2 HG02080.hp2 HG02109.hp1 HG02698.hp1 HG02735.hp2 NA19000.hp1 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0010 a0005c0007t0010 a0001c0001t0010 a0005c0007t0010	a0001c0001t0010g0003 a0001c0001t0010g0060 a0001c0001t0010g0062 others(4): Show a0001c0001t0010g0003 a0001c0001t0010g0060 a0001c0001t0010g0062 a0001c0001t0010g0103 a0001c0001t0010g0232 a0001c0001t0010g0256 a0005c0007t0010g0003	10	96	0.1042	22	c.89 others(31): Show c.898_*919dupAAAAAAAAAAAAAAAAAAAAAA	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	12/12	920	INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB18_chr2_236188459_236269406	236202814	T T	TATATATA others(15): Show TATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18993.hp2 NA18969.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0180 a0001c0001t0001g0110 a0001c0001t0001g0180	2	184	0.0109	22	c.110 others(41): Show c.1102-6430_1102-6429insGTGTGTGTATATATATATATAT	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	4/5			chr2	TogoVar
ASB4_chr7_95480943_95545233	95515219	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0210 a0001c0001t0004g0210	1	375	0.0027	22	c.488 others(41): Show c.488-12581_488-12580insCTTTCTTTCTCTTTCTTTCTTT	ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB7_chr15_100597589_100656701	100600551	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	45	0.0222	22	c.-27 others(33): Show c.-2768_-2767insAAAAAAAAAAAAAAAAAAAAAA	ASB7	ENSG00000183475.13	transcript	ENST00000332783.12	protein_coding		2037		chr15	TogoVar
ASB7_chr15_100597589_100656701	100611484	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00544.hp1 others(23): Show HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00673.hp2 HG01099.hp2 HG01167.hp2 HG01169.hp1 HG01258.hp1 HG01346.hp2 HG01928.hp2 HG01981.hp1 HG02055.hp1 HG02818.hp2 HG02976.hp1 HG03579.hp1 NA18948.hp2 NA18950.hp1 NA18957.hp1 NA18967.hp1 NA18969.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA19057.hp2 NA19060.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0013	a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0022 others(17): Show a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0065 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0190 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0270 a0001c0001t0002g0016 a0001c0001t0004g0017 a0001c0001t0004g0035 a0001c0001t0009g0089 a0001c0001t0013g0148	26	47	0.5532	22	c.-51 others(37): Show c.-51-669_-51-668insTTTTTTTTTTTTTTTTTTTTTT	ASB7	ENSG00000183475.13	transcript	ENST00000332783.12	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
ASB9_chrX_15238987_15275083	15270081	T T	TACACACA others(15): Show TACACACACACACACACACACAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0261 a0001c0001t0020g0261	1	225	0.0044	22	c.-22 others(31): Show c.-229_-208dupGTGTGTGTGTGTGTGTGTGTGT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/7	208		chrX	TogoVar
ASCC1_chr10_72091032_72221276	72198365	G G	GGGGGAGG others(15): Show GGGGGAGGGAAGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0174 a0002c0002t0001g0174	1	171	0.0058	22	c.311 others(39): Show c.311-1377_311-1376insTCCCCCCTCCCCTTCCCTCCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218145	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0184 a0002c0002t0001g0184	1	184	0.0054	22	c.-19 others(33): Show c.-1973_-1972insTTTTTTTTTTTTTTTTTTTTTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1870		chr10	TogoVar
ASCC3_chr6_100503194_100886329	100597809	G G	GAAAAAAA others(15): Show GAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01071.hp1 HG01123.hp1 others(4): Show HG00741.hp2 HG01071.hp1 HG01123.hp1 HG02109.hp1 HG02257.hp1 HG02630.hp2 HG03139.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0005 a0002c0003 a0003c0005	a0002c0003t0002 a0003c0005t0001 a0003c0005t0002 a0002c0003t0002 a0003c0005t0001 a0003c0005t0002	a0002c0003t0002g0159 a0003c0005t0001g0285 a0003c0005t0001g0289 others(4): Show a0002c0003t0002g0159 a0003c0005t0001g0285 a0003c0005t0001g0289 a0003c0005t0002g0147 a0003c0005t0002g0150 a0003c0005t0002g0151 a0003c0005t0002g0155	7	143	0.0490	22	c.530 others(41): Show c.5303+4000_5303+4001insTTTTTTTTTTTTTTTTTTTTTT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	34/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608084	A A	ATATCGAT others(15): Show ATATCGATATACACATATATATG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0018 a0004c0008t0002g0018	1	302	0.0033	22	c.478 others(39): Show c.4786-997_4786-996insCATATATATGTGTATATCGATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608401	A A	ATATATAT others(15): Show ATATATATACCTTATGTATACCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0136 a0001c0002t0002g0136	1	243	0.0041	22	c.478 others(41): Show c.4786-1314_4786-1313insAGGTATACATAAGGTATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608731	T T	TTATATAT others(15): Show TTATATATATATATTTATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03688.hp1 HG02602.hp2 HG03688.hp1	a0001 a0003 a0001 a0003	a0001c0020 a0003c0004 a0001c0020 a0003c0004	a0001c0020t0003 a0003c0004t0004 a0001c0020t0003 a0003c0004t0004	a0001c0020t0003g0134 a0003c0004t0004g0183 a0001c0020t0003g0134 a0003c0004t0004g0183	2	114	0.0175	22	c.478 others(41): Show c.4786-1644_4786-1643insTATATATAAATATATATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608731	T T	TTATATAT others(15): Show TTATATATATATATTTTTATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00621.hp2 others(6): Show HG00423.hp1 HG00609.hp1 HG00621.hp2 HG02074.hp2 HG02647.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0083 a0001c0002t0003g0103 a0001c0002t0003g0107 others(6): Show a0001c0002t0002g0083 a0001c0002t0003g0103 a0001c0002t0003g0107 a0001c0002t0003g0108 a0001c0002t0003g0110 a0001c0002t0003g0113 a0001c0002t0003g0119 a0001c0002t0003g0138 a0001c0002t0003g0141	9	121	0.0744	22	c.478 others(41): Show c.4786-1644_4786-1643insTATATAAAAATATATATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar

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