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
ASH1L_chr1_155330268_155567803	155411586	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03239.hp2 NA18979.hp2 others(1): Show HG02083.hp1 HG03239.hp2 NA18979.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0056 a0001c0001t0001g0128 a0001c0001t0001g0135 others(1): Show a0001c0001t0001g0056 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0012g0003	4	26	0.1538	34	c.600 others(53): Show c.6008+4157_6008+4158insATATATATATATATATATATATATAT ATATATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASIP_chr20_34236423_34274344	34258674	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01952.hp1 HG03490.hp2 others(4): Show HG00423.hp1 HG01952.hp1 HG03490.hp2 HG03710.hp2 NA18977.hp2 NA18993.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0021 a0001c0001t0001g0129 a0001c0001t0001g0151 others(3): Show a0001c0001t0001g0021 a0001c0001t0001g0129 a0001c0001t0001g0151 a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0003g0130	7	154	0.0455	34	c.-10 others(51): Show c.-10-1674_-10-1673insTATATATATATATATATATATATATATA TATATA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASIP_chr20_34236423_34274344	34258682	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	303	0.0033	34	c.-10 others(51): Show c.-10-1674_-10-1673insTATATATATATATATATATATATACATA TATATA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASIP_chr20_34236423_34274344	34258685	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	293	0.0034	34	c.-10 others(51): Show c.-10-1674_-10-1673insTATATATATATATATATATATATATATG TATATA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASIP_chr20_34236423_34274344	34258688	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02132.hp1 NA19010.hp2 HG00544.hp2 HG02132.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0174 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0174	3	286	0.0105	34	c.-10 others(51): Show c.-10-1674_-10-1673insTATATATATATATATATATATATATATA TACATA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASMTL_chrX_1398139_1457909	1416202	C C	CACAGATG others(27): Show CACAGATGGGCACACACACACATGGACATACAGAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02280.hp2 HG03195.hp2 others(2): Show HG01123.hp1 HG02280.hp2 HG03195.hp2 NA18522.hp2 NA19240.hp1	a0002 a0005 a0002 a0005	a0002c0003 a0002c0004 a0002c0028 others(2): Show a0002c0003 a0002c0004 a0002c0028 a0002c0029 a0005c0034	a0002c0003t0001 a0002c0004t0001 a0002c0028t0001 others(2): Show a0002c0003t0001 a0002c0004t0001 a0002c0028t0001 a0002c0029t0001 a0005c0034t0001	a0002c0003t0001g0075 a0002c0004t0001g0179 a0002c0028t0001g0133 others(2): Show a0002c0003t0001g0075 a0002c0004t0001g0179 a0002c0028t0001g0133 a0002c0029t0001g0174 a0005c0034t0001g0113	5	183	0.0273	34	c.152 others(53): Show c.1522+1770_1522+1771insATCTGTATGTCCATGTGTGTGTGTGC CCATCTGT	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	11/12			chrX	TogoVar
ASMT_chrX_1610059_1648081	1610080	C C	CCTGCTCC others(27): Show CCTGCTCCAGCCAAGCCTCCAGGCCGCCCCTGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	134	0.0075	34	c.-51 others(45): Show c.-5120_-5119insCTGCTCCAGCCAAGCCTCCAGGCCGCCCCTGCCT	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		4978		chrX	TogoVar
ASMT_chrX_1610059_1648081	1610565	C C	CCCCTACT others(27): Show CCCCTACTCCAGCTAAGACTCCAGGCCACCCCTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00544.hp2 others(50): Show HG00438.hp2 HG00544.hp1 HG00544.hp2 HG01071.hp2 HG01081.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01257.hp1 HG01346.hp1 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01934.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02080.hp1 HG02109.hp1 HG02148.hp1 HG02165.hp2 HG02293.hp2 HG02523.hp1 HG02683.hp2 HG03041.hp2 HG03239.hp1 HG03453.hp1 HG03669.hp2 HG03927.hp1 HG04184.hp1 HG04184.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18956.hp2 NA18963.hp1 NA18963.hp2 NA18969.hp2 NA18973.hp1 NA18980.hp1 NA18980.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19010.hp2 NA19057.hp2 NA19065.hp2 NA19072.hp2 NA19074.hp2 NA19080.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0008	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006 a0006c0011 a0007c0012 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002 a0002c0006t0001 a0006c0011t0002 a0007c0012t0001 a0008c0010t0001	a0001c0001t0001g0005 a0001c0001t0001g0041 a0001c0001t0001g0053 others(50): Show a0001c0001t0001g0005 a0001c0001t0001g0041 a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0120 a0001c0001t0001g0194 a0001c0001t0001g0206 a0001c0001t0002g0140 a0001c0001t0002g0160 a0001c0001t0002g0175 a0001c0001t0002g0179 a0001c0001t0002g0184 a0001c0003t0001g0030 a0001c0003t0001g0032 a0001c0003t0001g0038 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0093 a0001c0003t0001g0110 a0001c0003t0002g0148 a0001c0003t0002g0149 a0001c0003t0002g0176 a0001c0003t0002g0177 a0002c0002t0001g0003 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0055 a0002c0002t0001g0074 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0097 a0002c0002t0001g0107 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0118 a0002c0002t0001g0123 a0002c0002t0001g0126 a0002c0002t0001g0128 a0002c0002t0001g0208 a0002c0002t0002g0111 a0002c0002t0002g0143 a0002c0002t0002g0165 a0002c0002t0002g0207 a0002c0002t0002g0217 a0002c0006t0001g0103 a0002c0006t0001g0187 a0006c0011t0002g0076 a0007c0012t0001g0100 a0008c0010t0001g0108	53	219	0.2420	34	c.-46 others(45): Show c.-4635_-4634insCCCTACTCCAGCTAAGACTCCAGGCCACCCCTGA	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		4493		chrX	TogoVar
ASMT_chrX_1610059_1648081	1613197	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0011 a0003c0007t0001g0011	1	217	0.0046	34	c.-20 others(45): Show c.-2003_-2002insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		1861		chrX	TogoVar
ASNSD1_chr2_189656459_189675831	189665604	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	1	328	0.0030	34	c.-93 others(49): Show c.-93+184_-93+185insGTGTATATATATATATATATATATATATAT ATAT	ASNSD1	ENSG00000138381.10	transcript	ENST00000260952.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASPH_chr8_61495556_61719592	61539699	G G	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG04204.hp1 HG01074.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0084 a0001c0001t0004g0210 a0001c0001t0001g0084 a0001c0001t0004g0210	2	5	0.4000	34	c.176 others(53): Show c.1764+8338_1764+8371dupACACACACACACACACACACACACAC ACACACAC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	21/24			chr8	TogoVar
ASS1_chr9_130439961_130506274	130465056	A A	ATATATAT others(27): Show ATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	189	0.0053	34	c.420 others(49): Show c.420+890_420+891insATATATATATATATATTTTTTTTTTTTTTT TTTT	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASTN2_chr9_116418112_117420057	116718972	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0091 a0001c0002t0004g0091	1	29	0.0345	34	c.280 others(53): Show c.2806+6798_2806+6799insTATATATATATATATATATATATATA TATATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	16/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116718972	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0006 a0001c0021t0006	a0001c0021t0006g0055 a0001c0021t0006g0055	1	29	0.0345	34	c.280 others(53): Show c.2806+6798_2806+6799insTATATATATATATATATATATATACA CACACACA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	16/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117003530	G G	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0008 a0001c0001t0008g0008	1	6	0.1667	34	c.159 others(53): Show c.1591+4561_1591+4562insACACACACACACACACACACACACAC ACACACAC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117048963	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	33	0.0303	34	c.127 others(53): Show c.1277-8999_1277-8998insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASXL2_chr2_25728753_25883487	25849064	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00597.hp1 others(8): Show HG00140.hp2 HG00438.hp2 HG00597.hp1 HG01943.hp2 HG02809.hp2 HG03209.hp1 HG03927.hp1 NA18954.hp2 NA18955.hp2 NA19011.hp2 NA19081.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0001t0046 a0005c0006t0001	a0001c0001t0001g0152 a0001c0001t0001g0165 a0001c0001t0001g0202 others(8): Show a0001c0001t0001g0152 a0001c0001t0001g0165 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0004g0082 a0001c0001t0004g0178 a0001c0001t0016g0001 a0001c0001t0046g0177 a0005c0006t0001g0166	11	20	0.5500	34	c.58- others(49): Show c.58-3502_58-3501insATATATATATATATATATATATATATATAT ATAT	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	1/12			chr2	TogoVar
ASXL3_chr18_33573219_33756195	33601785	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01361.hp2 HG01884.hp1 others(7): Show HG01070.hp2 HG01361.hp2 HG01884.hp1 HG01981.hp1 HG02257.hp1 HG02630.hp1 HG02965.hp2 HG03195.hp1 HG03516.hp2 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0005 a0001c0001t0008 a0002c0002t0003 others(3): Show a0001c0001t0005 a0001c0001t0008 a0002c0002t0003 a0002c0002t0004 a0002c0002t0024 a0003c0003t0016	a0001c0001t0005g0012 a0001c0001t0005g0016 a0001c0001t0008g0018 others(7): Show a0001c0001t0005g0012 a0001c0001t0005g0016 a0001c0001t0008g0018 a0001c0001t0008g0020 a0001c0001t0008g0023 a0002c0002t0003g0063 a0002c0002t0003g0143 a0002c0002t0004g0046 a0002c0002t0024g0133 a0003c0003t0016g0019	10	110	0.0909	34	c.55- others(49): Show c.55-5799_55-5798insTATATATATATATATATATATATATATATA TATA	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33601785	G G	GTTTATAT others(27): Show GTTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp2 HG03209.hp1 HG03209.hp2	a0001 a0010 a0001 a0010	a0001c0017 a0010c0014 a0001c0017 a0010c0014	a0001c0017t0038 a0010c0014t0047 a0001c0017t0038 a0010c0014t0047	a0001c0017t0038g0174 a0010c0014t0047g0004 a0001c0017t0038g0174 a0010c0014t0047g0004	2	102	0.0196	34	c.55- others(49): Show c.55-5808_55-5807insTTATATATATATATATATATATATATATAT ATAT	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATAD1_chr10_87746512_87823226	87798623	G G	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0319 a0001c0001t0003g0319	1	319	0.0031	34	c.163 others(51): Show c.163-5869_163-5868insACACACACACACACACACACACACACAC ACACAC	ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	2/9			chr10	TogoVar
ATAD1_chr10_87746512_87823226	87798625	G G	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01433.hp1 HG02630.hp2 others(4): Show HG01175.hp2 HG01433.hp1 HG02630.hp2 HG03471.hp1 NA18972.hp2 NA18990.hp1 NA19012.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0003 a0003c0003t0002 a0001c0001t0002 a0001c0001t0003 a0003c0003t0002	a0001c0001t0002g0126 a0001c0001t0003g0066 a0001c0001t0003g0082 others(4): Show a0001c0001t0002g0126 a0001c0001t0003g0066 a0001c0001t0003g0082 a0001c0001t0003g0098 a0001c0001t0003g0110 a0001c0001t0003g0111 a0003c0003t0002g0116	7	150	0.0467	34	c.163 others(51): Show c.163-5871_163-5870insACACACACACACACACACACACACACAC ACACAC	ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	2/9			chr10	TogoVar
ATAD2B_chr2_23743664_23932123	23745422	A A	AAGGAAGG others(27): Show AAGGAAGGAAGGAAGGAAGAAAGGAAAGGGAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0111 a0001c0001t0004g0111	1	175	0.0057	34	c.66 others(45): Show c.6623_*6624insCCCTTCCCTTTCCTTTCTTCCTTCCTTCCTTCCT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding		3241		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23878025	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	190	0.0053	34	c.902 others(51): Show c.902-2122_902-2121insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27			chr2	TogoVar
ATAD2_chr8_123314850_123401447	123354864	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0130 a0001c0002t0001g0130	1	135	0.0074	34	c.164 others(53): Show c.1646+1524_1646+1525insATATATATATATATATATATATATAT ATATATTT	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	13/27			chr8	TogoVar
ATAD2_chr8_123314850_123401447	123377091	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	47	0.0213	34	c.320 others(51): Show c.320+3437_320+3438insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	2/27			chr8	TogoVar
ATAD2_chr8_123314850_123401447	123378701	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0016 a0001c0002t0006g0016	1	13	0.0769	34	c.320 others(51): Show c.320+1827_320+1828insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	2/27			chr8	TogoVar
ATAD2_chr8_123314850_123401447	123389960	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	94	0.0106	34	c.171 others(51): Show c.171+6226_171+6227insTATATATATATATATATATATATATATA TATATA	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	1/27			chr8	TogoVar
ATAD3B_chr1_1466765_1502848	1481986	G G	GGTGGCGT others(27): Show GGTGGCGTGGGCCGGTCCGTGGCATGGGCCTGTCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG01884.hp2 HG02572.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0006 a0009c0012t0006	a0009c0012t0006g0185 a0009c0012t0006g0186 a0009c0012t0006g0185 a0009c0012t0006g0186	2	274	0.0073	34	c.515 others(49): Show c.515-144_515-111dupGGGCCGGTCCGTGGCATGGGCCTGTCTGTG GCGT	ATAD3B	ENSG00000160072.20	transcript	ENST00000673477.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATF1_chr12_50759101_50826162	50782345	T T	TCCCCCCA others(27): Show TCCCCCCACCCCCCCCCAGCCACCCCCCCTTACCC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	380	0.0026	34	c.93+ others(49): Show c.93+2107_93+2108insCCCCCCACCCCCCCCCAGCCACCCCCCCTT ACCC	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding	2/6			chr12	TogoVar
ATF1_chr12_50759101_50826162	50823638	T T	TTATATAT others(27): Show TTATATATATAATCTATATTATATAATATATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG02109.hp1 HG02109.hp2 others(11): Show HG01071.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02622.hp2 HG02647.hp2 HG02809.hp2 HG02896.hp2 HG02922.hp2 HG03130.hp2 HG03225.hp1 HG03471.hp1 HG03516.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0002c0005 a0001c0002 a0001c0006 a0002c0005	a0001c0002t0001 a0001c0002t0006 a0001c0002t0013 others(3): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0013 a0001c0002t0014 a0001c0006t0001 a0002c0005t0001	a0001c0002t0001g0311 a0001c0002t0001g0314 a0001c0002t0001g0315 others(11): Show a0001c0002t0001g0311 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0320 a0001c0002t0006g0282 a0001c0002t0006g0288 a0001c0002t0006g0289 a0001c0002t0006g0291 a0001c0002t0013g0290 a0001c0002t0014g0313 a0001c0006t0001g0312 a0002c0005t0001g0319	14	257	0.0545	34	c.38 others(45): Show c.3859_*3860insTATATATATAATCTATATTATATAATATATAATA	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2477		chr12	TogoVar
ATF1_chr12_50759101_50826162	50823641	T T	TATATATA others(27): Show TATATATAATCTATATTATATAATATATAATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0293 a0001c0002t0006g0293	1	378	0.0026	34	c.38 others(45): Show c.3862_*3863insATATATAATCTATATTATATAATATATAATATAG	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2480		chr12	TogoVar
ATF1_chr12_50759101_50826162	50825652	T T	TTTGAGAC others(27): Show TTTGAGACATGGTCTTGCCATGTTGCCCAGGTTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	380	0.0026	34	c.58 others(45): Show c.5873_*5874insTTGAGACATGGTCTTGCCATGTTGCCCAGGTTGA	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		4491		chr12	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTTCT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0045 a0001c0001t0038g0045	1	149	0.0067	34	c.108 others(51): Show c.108+5681_108+5682insTTTCTTTCTTTCCTTCTTTCTTTCTTTC TTTTCT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7			chr5	TogoVar
ATG10_chr5_81967023_82261133	81993360	C C	CTTCTTTC others(27): Show CTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA18951.hp2 HG03239.hp1 NA18951.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0002c0002t0008 a0001c0001t0011 a0002c0002t0008	a0001c0001t0011g0097 a0002c0002t0008g0079 a0001c0001t0011g0097 a0002c0002t0008g0079	2	49	0.0408	34	c.108 others(51): Show c.108+5688_108+5689insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82118387	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03471.hp2 NA19030.hp2 HG03130.hp2 HG03471.hp2 NA19030.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0003 a0001c0001t0009 a0006c0006t0001 a0001c0001t0003 a0001c0001t0009 a0006c0006t0001	a0001c0001t0003g0169 a0001c0001t0009g0218 a0006c0006t0001g0123 a0001c0001t0003g0169 a0001c0001t0009g0218 a0006c0006t0001g0123	3	62	0.0484	34	c.217 others(53): Show c.217-45994_217-45993insATATATATATATATATATATATATAT ATATATAT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82118402	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0045 a0001c0001t0038g0045	1	222	0.0045	34	c.217 others(53): Show c.217-45994_217-45993insATATATATATATATATATATATATAT ATATGTAT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG7_chr3_11267397_11562665	11497357	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02080.hp1 HG01358.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0002g0243 a0001c0001t0002g0246	2	41	0.0488	34	c.208 others(55): Show c.2080-57452_2080-57419dupATATATATATATATATATATATAT ATATATATAT	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATL2_chr2_38288954_38382273	38329423	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	74	0.0135	34	c.364 others(53): Show c.364-10405_364-10404insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATOSA_chr15_52576321_52684388	52679772	T T	TCCTCCTC others(27): Show TCCTCCTCCTCCTCCCCCCTCCCCCTCCTTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00621.hp2 others(50): Show HG00423.hp1 HG00597.hp1 HG00621.hp2 HG00673.hp2 HG01978.hp2 HG02040.hp2 HG02071.hp1 HG02080.hp2 HG02280.hp1 HG02615.hp1 HG03516.hp2 HG04115.hp1 NA18939.hp1 NA18940.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18972.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18984.hp1 NA18987.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA19000.hp1 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19054.hp2 NA19057.hp1 NA19058.hp2 NA19064.hp1 NA19075.hp2 NA19077.hp1 NA19080.hp1 NA19082.hp1 NA19088.hp1 NA20129.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0003 a0002c0002 a0012c0016 a0001c0003 a0002c0002 a0012c0016	a0001c0003t0001 a0002c0002t0001 a0012c0016t0001 a0001c0003t0001 a0002c0002t0001 a0012c0016t0001	a0001c0003t0001g0001 a0001c0003t0001g0007 a0001c0003t0001g0008 others(43): Show a0001c0003t0001g0001 a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0009 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0138 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0003t0001g0164 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0170 a0001c0003t0001g0172 a0001c0003t0001g0267 a0002c0002t0001g0014 a0002c0002t0001g0266 a0002c0002t0001g0269 a0012c0016t0001g0127	53	351	0.1510	34	c.-10 others(45): Show c.-1047_-1046insGGGGGAAGGAGGGGGAGGGGGGAGGAGGAGGAGG	ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding		385		chr15	TogoVar
ATP10B_chr5_160558120_160857211	160704914	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0115 a0001c0001t0009g0115	1	33	0.0303	34	c.-20 others(55): Show c.-205+11994_-205+11995insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	3/25			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160823001	C C	CATATATA others(27): Show CATATATATATATATATATATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0172 a0001c0001t0008g0172	1	131	0.0076	34	c.-57 others(55): Show c.-576+28939_-576+28940insATATATATGTATATATATATATAT ATATATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	1/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112804049	T T	TTCCCTCC others(27): Show TTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0136 a0001c0006t0001g0136	1	249	0.0040	34	c.163 others(49): Show c.163-907_163-906insCCCTCCTTCACCTCCCTCCCCCCATCCCCT CTCT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804050	T T	TCACCTCC others(27): Show TCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCC	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18962.hp2 HG04204.hp2 NA18962.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0007 a0001c0005 a0003c0007	a0001c0005t0002 a0003c0007t0011 a0001c0005t0002 a0003c0007t0011	a0001c0005t0002g0081 a0003c0007t0011g0106 a0001c0005t0002g0081 a0003c0007t0011g0106	2	248	0.0081	34	c.163 others(49): Show c.163-907_163-906insCACCTCCCTCCCTGCCATCCCCTCTCTGCC CTCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29			chr13	TogoVar
ATP13A5_chr3_193269789_193383753	193362813	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0194 a0001c0007t0002g0194	1	63	0.0159	34	c.385 others(49): Show c.385-177_385-176insCAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	ATP13A5	ENSG00000187527.12	transcript	ENST00000342358.9	protein_coding	3/29			chr3	TogoVar
ATP1B4_chrX_120357089_120388237	120374804	A A	AATATATA others(27): Show AATATATATATTATATTATATATAAGGGTATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG06807.hp2 HG02258.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0050 a0001c0001t0005g0050	2	344	0.0058	34	c.563 others(49): Show c.563-568_563-567insATATATATATTATATTATATATAAGGGTAT ATAT	ATP1B4	ENSG00000101892.12	transcript	ENST00000218008.8	protein_coding	4/7			chrX	TogoVar
ATP2A3_chr17_3918873_3969437	3958823	C C	CACACACA others(27): Show CACACACATATATATACACATATATATATACACAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18977.hp1 NA19003.hp2 others(1): Show NA18947.hp1 NA18977.hp1 NA19003.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0003t0001 a0001c0003t0006 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0006 a0001c0010t0022	a0001c0001t0001g0142 a0001c0003t0001g0049 a0001c0003t0006g0050 others(1): Show a0001c0001t0001g0142 a0001c0003t0001g0049 a0001c0003t0006g0050 a0001c0010t0022g0051	4	191	0.0209	34	c.119 others(51): Show c.119-5114_119-5113insATGTGTATATATATATGTGTATATATAT GTGTGT	ATP2A3	ENSG00000074370.18	transcript	ENST00000397041.8	protein_coding	1/20			chr17	TogoVar
ATP2A3_chr17_3918873_3969437	3958823	C C	CACACATA others(27): Show CACACATATATATACACATATATATATACACATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp2 HG02630.hp1 HG02717.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0024 a0001c0003 a0002c0024	a0001c0003t0001 a0002c0024t0007 a0001c0003t0001 a0002c0024t0007	a0001c0003t0001g0047 a0002c0024t0007g0048 a0001c0003t0001g0047 a0002c0024t0007g0048	2	189	0.0106	34	c.119 others(51): Show c.119-5114_119-5113insATATGTGTATATATATATGTGTATATAT ATGTGT	ATP2A3	ENSG00000074370.18	transcript	ENST00000397041.8	protein_coding	1/20			chr17	TogoVar
ATP2B4_chr1_203621832_203749081	203744827	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 NA18969.hp1 HG00558.hp2 NA18969.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0025 a0001c0003t0021 a0001c0003t0025	a0001c0003t0021g0100 a0001c0003t0025g0213 a0001c0003t0021g0100 a0001c0003t0025g0213	2	210	0.0095	34	c.49 others(45): Show c.4973_*4974insACACACACACACACACACACACACACACACACAC	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding		747		chr1	TogoVar
ATP2C2_chr16_84363538_84469187	84397655	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0010 a0010	a0010c0024 a0010c0024	a0010c0024t0001 a0010c0024t0001	a0010c0024t0001g0117 a0010c0024t0001g0117	1	20	0.0500	34	c.100 others(49): Show c.100-826_100-825insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP5MC1_chr17_48887787_48900871	48899067	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG02622.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	2	9	0.2222	34	c.32 others(45): Show c.3298_*3299insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ATP5MC1	ENSG00000159199.14	transcript	ENST00000393366.7	protein_coding		3197		chr17	TogoVar

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