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
ASAP1_chr8_130047104_130448674	130049778	A A	AACACATG others(34): Show AACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0199 a0001c0001t0017g0199	1	305	0.0033	41	c.49 others(52): Show c.4952_*4953insCCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCC CATGTGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2325		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049794	A A	AGGAGAAC others(34): Show AGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01192.hp2 HG00558.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0202 a0001c0001t0002g0089 a0001c0001t0002g0202	2	281	0.0071	41	c.49 others(52): Show c.4936_*4937insCTCTGCCCCCATGTGTTCTCCTCTGCCCCCATGT GTTCTCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2309		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049806	G G	GGGGGCAG others(34): Show GGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 NA18943.hp2 NA18973.hp1 HG01978.hp2 NA18943.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0212 a0001c0001t0002g0044 a0001c0001t0002g0178 a0001c0001t0001g0212 a0001c0001t0002g0044 a0001c0001t0002g0178	3	301	0.0100	41	c.49 others(52): Show c.4924_*4925insATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCT CTGCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2297		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049847	G G	GGGGGCAG others(34): Show GGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0285 a0001c0005t0005g0285	1	305	0.0033	41	c.48 others(52): Show c.4883_*4884insATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCT CTGCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2256		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049847	G G	GGGGGGCA others(34): Show GGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0004 a0001c0001t0007g0004	1	305	0.0033	41	c.48 others(52): Show c.4883_*4884insATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTC TGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2256		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049877	G G	GGAGAACA others(34): Show GGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	275	0.0036	41	c.48 others(52): Show c.4853_*4854insTCTGCCCCCCATGTGTTCCCCCTCTGCCCCCATG TGTTCTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2226		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049877	G G	GGAGAACA others(34): Show GGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0105 a0002c0002t0001g0105	1	275	0.0036	41	c.48 others(52): Show c.4853_*4854insTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATG TGTTCTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2226		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049877	G G	GGGGAACA others(34): Show GGGGAACACATGGAGGGCAGAGGGGAACACATGGAGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	275	0.0036	41	c.48 others(52): Show c.4853_*4854insTCTGCCCTCCATGTGTTCCCCTCTGCCCTCCATG TGTTCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2226		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049992	G G	GGGGGGCA others(34): Show GGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0144 a0002c0002t0001g0144	1	291	0.0034	41	c.47 others(52): Show c.4738_*4739insATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTC TGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2111		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050025	G G	GGAACACA others(34): Show GGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0145 a0002c0002t0001g0145	1	145	0.0069	41	c.47 others(52): Show c.4705_*4706insTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCA TGTGTTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2078		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050029	C C	CACATGGG others(34): Show CACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 NA21309.hp2 HG02055.hp2 NA21309.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0288 a0001c0006t0005g0292 a0001c0006t0005g0288 a0001c0006t0005g0292	2	299	0.0067	41	c.47 others(52): Show c.4701_*4702insATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCC CCCATGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2074		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050096	G G	GGGGGCAG others(34): Show GGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01361.hp2 HG01192.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0149 a0001c0001t0002g0089 a0001c0001t0002g0149	2	288	0.0069	41	c.46 others(52): Show c.4634_*4635insATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCT CTGCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2007		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050158	G G	GGGGGGCA others(34): Show GGGGGGCAGAGGAGAACACATGGAGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0266 a0002c0002t0001g0266	1	287	0.0035	41	c.45 others(52): Show c.4572_*4573insATGTGTTCTCCTCTGCCCTCCATGTGTTCTCCTC TGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1945		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050158	G G	GGGGGGCA others(34): Show GGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01243.hp2 HG02965.hp2 others(4): Show HG00609.hp1 HG01243.hp2 HG02965.hp2 HG03942.hp2 NA18945.hp1 NA18951.hp1 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0063 a0002c0002t0001g0064 others(4): Show a0002c0002t0001g0012 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0081 a0002c0002t0001g0100 a0002c0002t0001g0240 a0002c0002t0001g0267	7	293	0.0239	41	c.45 others(52): Show c.4572_*4573insATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTC TGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1945		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050178	T T	TGGGGGCA others(34): Show TGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0166 a0001c0005t0001g0166	1	240	0.0042	41	c.45 others(52): Show c.4552_*4553insCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTC TGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1925		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050178	T T	TGGGGGGC others(34): Show TGGGGGGCAGAGGGGAACACGGGGGGAAGAGGGGAACACATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG02280.hp2 HG02451.hp1 HG00423.hp2 HG02280.hp2 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0006 a0002c0003t0001 a0002c0002t0006 a0002c0003t0001	a0002c0002t0006g0306 a0002c0002t0006g0307 a0002c0003t0001g0023 a0002c0002t0006g0306 a0002c0002t0006g0307 a0002c0003t0001g0023	3	242	0.0124	41	c.45 others(52): Show c.4552_*4553insCATGTGTTCCCCTCTTCCCCCCGTGTTCCCCTCT GCCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1925		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050281	G G	GGGGGGCA others(34): Show GGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0095 a0002c0002t0029g0095	1	244	0.0041	41	c.44 others(52): Show c.4449_*4450insATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTC TGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1822		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050281	G G	GGGGGGCA others(34): Show GGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG02738.hp1 HG00099.hp2 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0104 a0002c0002t0001g0105	2	245	0.0082	41	c.44 others(52): Show c.4449_*4450insATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCTC TGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1822		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072825	G G	GTGTGTGT others(34): Show GTGTGTGTGTGTGCGCGTGTGCGTGCGCGCGCTGCGCGCGCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0266 a0002c0002t0001g0266	1	209	0.0048	41	c.270 others(60): Show c.2701+3522_2701+3523insTGCGCGCGCAGCGCGCGCACGCACAC GCGCACACACACACA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAAAA others(34): Show AAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0201 a0001c0004t0005g0201	1	94	0.0106	41	c.127 others(60): Show c.127-25080_127-25079insAAAAAAATATATATATATATATATAT ATATATATATATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9397750	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0192 a0001c0004t0005g0192	1	112	0.0089	41	c.268 others(60): Show c.2685-2272_2685-2271insATATATATATATATATATATATATAT ATATATATATTTTTT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	24/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASCC3_chr6_100503194_100886329	100608462	C C	CTTTATAT others(34): Show CTTTATATATATATTTTATATATATATACTTTATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02109.hp2 HG02165.hp2 others(5): Show HG00621.hp1 HG02109.hp2 HG02165.hp2 NA18962.hp2 NA18980.hp1 NA18998.hp2 NA19043.hp1 NA19054.hp2	a0001 a0002 a0020 a0001 a0002 a0020	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0020c0036	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0002c0003t0002 a0020c0036t0002	a0001c0001t0001g0276 a0001c0002t0002g0088 a0001c0002t0003g0077 others(5): Show a0001c0001t0001g0276 a0001c0002t0002g0088 a0001c0002t0003g0077 a0001c0002t0003g0124 a0001c0002t0003g0130 a0002c0003t0002g0015 a0002c0003t0002g0066 a0020c0036t0002g0048	8	161	0.0497	41	c.478 others(60): Show c.4786-1375_4786-1374insATATATATATAAAGTATATATATATA AAATATATATATAAA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608462	C C	CTTTATAT others(34): Show CTTTATATATATATTTTATATATATATACTTTATGTATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0132 a0001c0002t0003g0132	1	154	0.0065	41	c.478 others(60): Show c.4786-1375_4786-1374insATATATACATAAAGTATATATATATA AAATATATATATAAA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608550	A A	ATATATGT others(34): Show ATATATGTATACCTTATATATATACCTTATATATGTATACCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0288 a0003c0004t0001g0288	1	311	0.0032	41	c.478 others(60): Show c.4786-1463_4786-1462insAGGTATACATATATAAGGTATATATA TAAGGTATACATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASTN2_chr9_116418112_117420057	117016658	C C	CATATATA others(34): Show CATATATATAGGTTATATATATATGTTACATATATATAGGTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG01081.hp2 others(9): Show HG00099.hp1 HG00735.hp2 HG01081.hp2 HG01109.hp2 HG01256.hp1 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG03017.hp1 HG03017.hp2 HG03540.hp1 NA20752.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0023 a0005c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0003t0003 a0001c0003t0006 a0001c0003t0014 a0001c0023t0002 a0005c0024t0013	a0001c0001t0001g0053 a0001c0001t0002g0040 a0001c0001t0003g0062 others(9): Show a0001c0001t0001g0053 a0001c0001t0002g0040 a0001c0001t0003g0062 a0001c0001t0004g0059 a0001c0002t0001g0057 a0001c0002t0003g0066 a0001c0002t0004g0091 a0001c0003t0003g0030 a0001c0003t0006g0026 a0001c0003t0014g0083 a0001c0023t0002g0069 a0005c0024t0013g0101	12	54	0.2222	41	c.142 others(60): Show c.1424-8400_1424-8399insAACCTATATATATGTAACATATATAT ATAACCTATATATAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	6/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117048963	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0021 a0001c0002t0003g0021	1	33	0.0303	41	c.127 others(60): Show c.1277-8999_1277-8998insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASZ1_chr7_117358222_117432493	117427613	C C	CTGCTCTC others(34): Show CTGCTCTCCTCCCTGCCCCGTCCCTCCCTAACCTTGAGGCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	304	0.0033	41	c.-19 others(50): Show c.-194_-154dupAAGCCTCAAGGTTAGGGAGGGACGGGGCAGGGAGGA GAGCA	ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding		121		chr7	TogoVar
ATAD1_chr10_87746512_87823226	87798625	G G	GTGTGTGT others(34): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	144	0.0069	41	c.163 others(58): Show c.163-5871_163-5870insACACACACACACACACACACACACACAC ACACACACACACA	ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	2/9			chr10	TogoVar
ATAD2B_chr2_23743664_23932123	23745422	A A	AAGGAAGG others(34): Show AAGGAAGGAAGGAAGGAAAGGGAAGGGAAGGGAAGGGAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0227 a0001c0002t0003g0227	1	175	0.0057	41	c.66 others(52): Show c.6623_*6624insCCCTTCCCTTCCCTTCCCTTCCCTTTCCTTCCTT CCTTCCT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding		3241		chr2	TogoVar
ATAD2_chr8_123314850_123401447	123377091	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	47	0.0213	41	c.320 others(58): Show c.320+3437_320+3438insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	2/27			chr8	TogoVar
ATAD3B_chr1_1466765_1502848	1497087	A A	AGCCTGGG others(34): Show AGCCTGGGCACGCAACGGTCCCATCGGAGAGCAGACCCCTCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0151 a0001c0001t0024g0151	1	274	0.0036	41	c.12 others(52): Show c.1272_*1312dupCCTGGGCACGCAACGGTCCCATCGGAGAGCAGAC CCCTCGG	ATAD3B	ENSG00000160072.20	transcript	ENST00000673477.1	protein_coding	16/16	1313	INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD3B_chr1_1466765_1502848	1497105	T T	TCCCATCG others(34): Show TCCCATCGGAGAGCAGACCCCTCGGCCTGGGCATGCAACGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0017 a0002c0024t0017	a0002c0024t0017g0037 a0002c0024t0017g0037	1	268	0.0037	41	c.13 others(52): Show c.1312_*1313insCCTGGGCATGCAACGGGCCCATCGGAGAGCAGAC CCCTCGG	ATAD3B	ENSG00000160072.20	transcript	ENST00000673477.1	protein_coding	16/16	1313	INFO_REALIGN_3_PRIME	chr1	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCTTT others(34): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	149	0.0067	41	c.108 others(58): Show c.108+5681_108+5682insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCCTTCTTTCT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160704914	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	33	0.0303	41	c.-20 others(62): Show c.-205+11994_-205+11995insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	3/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112766906	A A	AGGATGTG others(34): Show AGGATGTGGGGGCGTTGGGGGCCCCTGTGGGAAGGTGGGGAG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03704.hp1 HG03017.hp1 HG03704.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0018 a0001c0002 a0005c0018	a0001c0002t0001 a0005c0018t0001 a0001c0002t0001 a0005c0018t0001	a0001c0002t0001g0167 a0005c0018t0001g0168 a0001c0002t0001g0167 a0005c0018t0001g0168	2	172	0.0116	41	c.40- others(58): Show c.40-18228_40-18227insGATGTGGGGGCGTTGGGGGCCCCTGTGG GAAGGTGGGGAGG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112767031	T T	TGGGGGTG others(34): Show TGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0011 a0011	a0011c0041 a0011c0041	a0011c0041t0001 a0011c0041t0001	a0011c0041t0001g0169 a0011c0041t0001g0169	1	252	0.0040	41	c.40- others(58): Show c.40-18099_40-18098insTGTTGGGGGCCCCTGTGGGAAGGTGGGG AGGATGTGGGGGG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112767224	A A	AGGGTGTG others(34): Show AGGGTGTGGGAGTGCTGGGGGCCCCTGTGGGAAGGTGGGGAG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0005 a0003c0008t0005	a0003c0008t0005g0249 a0003c0008t0005g0249	1	140	0.0071	41	c.40- others(58): Show c.40-17910_40-17909insGGTGTGGGAGTGCTGGGGGCCCCTGTGG GAAGGTGGGGAGG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112767263	A A	AGGGTGTG others(34): Show AGGGTGTGGGAGTGCTGGGGGCCCCTGTGGGAAGGTGGGGAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0006 a0006	a0006c0035 a0006c0035	a0006c0035t0001 a0006c0035t0001	a0006c0035t0001g0187 a0006c0035t0001g0187	1	140	0.0071	41	c.40- others(58): Show c.40-17871_40-17870insGGTGTGGGAGTGCTGGGGGCCCCTGTGG GAAGGTGGGGAGG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804303	T T	TCCCTCCT others(34): Show TCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02004.hp1 HG02273.hp2 others(3): Show HG00642.hp2 HG02004.hp1 HG02273.hp2 HG02738.hp1 HG03453.hp2 HG03516.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0004 a0001c0021 others(1): Show a0001c0001 a0001c0004 a0001c0021 a0010c0037	a0001c0001t0001 a0001c0004t0003 a0001c0004t0006 others(2): Show a0001c0001t0001 a0001c0004t0003 a0001c0004t0006 a0001c0021t0024 a0010c0037t0001	a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0004t0003g0079 others(3): Show a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0004t0003g0079 a0001c0004t0006g0228 a0001c0021t0024g0047 a0010c0037t0001g0076	6	252	0.0238	41	c.163 others(56): Show c.163-654_163-653insCCCTCCTTCACCTCCCTCCCCCCATCCCCT CTCTGCCCTCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29			chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804416	T T	TCCCTCCT others(34): Show TCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01169.hp2 HG01243.hp2 HG00738.hp2 HG01169.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0109 a0001c0001t0001g0121 a0001c0001t0001g0068 a0001c0001t0001g0109 a0001c0001t0001g0121	3	252	0.0119	41	c.163 others(56): Show c.163-541_163-540insCCCTCCTTCACCTCCCTCCCCCCATCCCCT CTCTGCCCTCG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29			chr13	TogoVar
ATP6V0A4_chr7_138701294_138803196	138737113	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG03516.hp2 HG04184.hp1 others(6): Show HG01943.hp2 HG03516.hp2 HG04184.hp1 NA18747.hp2 NA18957.hp2 NA18965.hp1 NA18965.hp2 NA18977.hp2 NA18980.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0014 a0002c0002t0001 a0001c0001t0001 a0001c0001t0014 a0002c0002t0001	a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0180 others(6): Show a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0180 a0001c0001t0001g0218 a0001c0001t0001g0253 a0001c0001t0001g0362 a0001c0001t0014g0376 a0002c0002t0001g0055 a0002c0002t0001g0222	9	172	0.0523	41	c.157 others(60): Show c.1572+2426_1572+2427insTATATATATATATATATATATATATA TATATATATATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138737115	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATGAAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	113	0.0088	41	c.157 others(60): Show c.1572+2424_1572+2425insATTCATATATATATATATATATATAT ATATATATATATATA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21			chr7	TogoVar
ATP8B1_chr18_57641426_57808315	57713240	C C	CTTCCTTC others(34): Show CTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0197 a0001c0001t0044g0197	1	194	0.0052	41	c.182 others(58): Show c.182-6654_182-6653insAGAAAGAAAGAAAGAAAGAAAGGAAGGA AGGAAGGAAGGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B4_chr15_49853238_50124233	50085971	G G	GATATATA others(34): Show GATATATATCATATATATATATGATATATATCATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0058 a0003c0003t0002g0058	1	217	0.0046	41	c.29- others(58): Show c.29-11787_29-11786insATATATATATGATATATATCATATATAT ATATGATATATAT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0074 a0001c0025t0001g0074	1	2	0.5000	41	c.119 others(58): Show c.119+1884_119+1885insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79325888	G G	GTCCCCTC others(34): Show GTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCC	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA18943.hp2 HG01358.hp2 NA18943.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0078 a0002c0002t0002g0223 a0001c0001t0001g0078 a0002c0002t0002g0223	2	295	0.0068	41	c.177 others(60): Show c.1774-3166_1774-3126dupCTCACATGGTGTTAGGGTGTCATCTC TGTACCCTCCCTCCC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326079	C C	CCTCTGTA others(34): Show CCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02071.hp1 NA18944.hp1 others(1): Show HG00609.hp2 HG02071.hp1 NA18944.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0085	4	275	0.0145	41	c.177 others(60): Show c.1774-3022_1774-3021insTCTCTGTACCCTCCCTCCCCTCACAT GGTGTTAGGGTGTCA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326079	C C	CCTCTGTA others(34): Show CCTCTGTACGCTCCCTCCCCTCACATGGTGTTAGGGTGTCAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG01891.hp2 others(2): Show HG01243.hp2 HG01884.hp2 HG01891.hp2 HG02723.hp1 HG03130.hp2	a0002 a0005 a0002 a0005	a0002c0032 a0005c0009 a0002c0032 a0005c0009	a0002c0032t0005 a0005c0009t0005 a0002c0032t0005 a0005c0009t0005	a0002c0032t0005g0189 a0005c0009t0005g0165 a0005c0009t0005g0166 others(2): Show a0002c0032t0005g0189 a0005c0009t0005g0165 a0005c0009t0005g0166 a0005c0009t0005g0167 a0005c0009t0005g0170	5	276	0.0181	41	c.177 others(60): Show c.1774-3054_1774-3053insGCTCCCTCCCCTCACATGGTGTTAGG GTGTCATCTCTGTAC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326091	C C	TCCTCCCC others(34): Show TCCTCCCCTCACATGGTGTTAGTGTGTCATCTCTGCACACTC	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	296	0.0034	41	c.177 others(60): Show c.1774-3051_1774-3050insTCCTCCCCTCACATGGTGTTAGTGTG TCATCTCTGCACACT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326171	C C	CTCCCTCC others(34): Show CTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03654.hp1 NA20129.hp2 HG00741.hp2 HG03654.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0025 a0001c0001t0001g0063 a0001c0001t0001g0065	3	296	0.0101	41	c.177 others(60): Show c.1774-2930_1774-2929insTTCCCTCCCCTCACATGGTGTTAGGG TGTCATCTCTGTACC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar

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