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
ACOD1_chr13_76943511_76963638	76944257	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02647.hp1 HG03195.hp2 others(6): Show HG02622.hp2 HG02647.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 NA18522.hp1 NA19006.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0018 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0080 a0001c0002t0001g0009	9	103	0.0874	15	c.-43 others(26): Show c.-4302_-4301insAAAAAAAAAAAAAAA	ACOD1	ENSG00000102794.11	transcript	ENST00000377462.6	protein_coding		4253		chr13	TogoVar
ACOT11_chr1_54543228_54615329	54554352	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	371	0.0027	15	c.33+ others(30): Show c.33+6010_33+6011insATATATATATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15			chr1	TogoVar
ACOT11_chr1_54543228_54615329	54571071	C C	CTCTCTCT others(8): Show CTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0194 a0002c0002t0006g0194	1	300	0.0033	15	c.34- others(32): Show c.34-13583_34-13582insCTCTCTCTCTCTCTT	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599181	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0268 a0002c0002t0004g0268	1	313	0.0032	15	c.765 others(30): Show c.765-115_765-114insTATATATATATATAT	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15			chr1	TogoVar
ACOT9_chrX_23696055_23748276	23742209	T T	TGAGAGAG others(8): Show TGAGAGAGAGAGGAGA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0099 a0001c0001t0008g0099	1	128	0.0078	15	c.20+ others(28): Show c.20+915_20+916insTCTCCTCTCTCTCTC	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	1/15			chrX	TogoVar
ACOT9_chrX_23696055_23748276	23742236	G G	GAGAGAGA others(8): Show GAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0067 a0001c0001t0009g0067	1	293	0.0034	15	c.20+ others(28): Show c.20+888_20+889insTCTCTCTCTCTCTCT	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	1/15			chrX	TogoVar
ACOX1_chr17_75936507_75984166	75968435	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA18906.hp1 HG02647.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0030 a0002c0002t0001g0031	2	156	0.0128	15	c.270 others(32): Show c.270-8075_270-8061dupTTTTTTTTTTTTTTT	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75970184	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02723.hp1 HG03195.hp2 others(1): Show HG01069.hp1 HG02723.hp1 HG03195.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0011 a0001c0004t0008 a0001c0001t0011 a0001c0004t0008	a0001c0001t0011g0132 a0001c0004t0008g0131 a0001c0004t0008g0133 others(1): Show a0001c0001t0011g0132 a0001c0004t0008g0131 a0001c0004t0008g0133 a0001c0004t0008g0134	4	157	0.0255	15	c.269 others(32): Show c.269+8335_269+8349dupTTTTTTTTTTTTTTT	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar
ACOX2_chr3_58500136_58542190	58527536	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02559.hp1 HG02647.hp2 others(1): Show HG01168.hp1 HG02559.hp1 HG02647.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 a0001c0002 a0001c0004 a0001c0005	a0001c0002t0001 a0001c0004t0001 a0001c0005t0002 a0001c0002t0001 a0001c0004t0001 a0001c0005t0002	a0001c0002t0001g0096 a0001c0004t0001g0223 a0001c0005t0002g0266 others(1): Show a0001c0002t0001g0096 a0001c0004t0001g0223 a0001c0005t0002g0266 a0001c0005t0002g0267	4	251	0.0159	15	c.115 others(32): Show c.1156-881_1156-880insTTTTTTTTTTTTTTT	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	9/14			chr3	TogoVar
ACOX3_chr4_8361282_8445723	8393560	T T	TTAAAAAA others(8): Show TTAAAAAAGAAAGACA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	378	0.0026	15	c.117 others(34): Show c.1179+1045_1179+1059dupTGTCTTTCTTTTTTA	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	10/17			chr4	TogoVar
ACOX3_chr4_8361282_8445723	8400250	C C	CAATAATA others(8): Show CAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0366 a0001c0003t0001g0366	1	95	0.0105	15	c.777 others(30): Show c.777-613_777-599dupATTATTATTATTATT	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	7/17			chr4	TogoVar
ACOXL_chr2_110727573_111123548	110769650	T T	TAAAACAA others(8): Show TAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	134	0.0075	15	c.75+ others(30): Show c.75+1206_75+1220dupCAAAACAAAACAAAA	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOXL_chr2_110727573_111123548	111001387	A A	AAAAACAA others(8): Show AAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01257.hp1 HG01346.hp2 HG00140.hp1 HG01257.hp1 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0103 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0103	3	44	0.0682	15	c.128 others(34): Show c.1281+5398_1281+5412dupCAAAACAAAACAAAA	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOXL_chr2_110727573_111123548	111120979	T T	TGCCGCTG others(8): Show TGCCGCTGCCGCCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	16	0.0625	15	c.31 others(26): Show c.3163_*3164insGCCGCTGCCGCCGCC	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding		2432		chr2	TogoVar
ACP3_chr3_132312407_132363841	132325610	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0236 a0001c0001t0008g0236	1	366	0.0027	15	c.121 others(32): Show c.121-2648_121-2647insACACACCACACACAC	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACP5_chr19_11569660_11582645	11576006	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03130.hp2 NA19043.hp2 HG02895.hp2 HG03130.hp2 NA19043.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0023 a0003c0002t0001g0023	3	220	0.0136	15	c.735 others(30): Show c.735+222_735+236dupTTTTTTTTTTTTTTT	ACP5	ENSG00000102575.14	transcript	ENST00000648477.1	protein_coding	4/4			chr19	TogoVar
ACP7_chr19_39079368_39116493	39102715	T T	TTACTTTC others(8): Show TTACTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00544.hp1 others(5): Show HG00099.hp1 HG00408.hp2 HG00544.hp1 HG01081.hp2 HG01975.hp1 HG02293.hp2 HG04184.hp2 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0121 a0001c0002t0002g0126 a0001c0002t0002g0127 others(5): Show a0001c0002t0002g0121 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0130 a0001c0002t0002g0152 a0001c0002t0005g0219 a0001c0002t0005g0324 a0001c0002t0005g0325	8	129	0.0620	15	c.111 others(34): Show c.1113+1179_1113+1180insACTTTCTTTCTTTCT	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACP7_chr19_39079368_39116493	39102715	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG01069.hp1 others(22): Show HG00099.hp2 HG00597.hp1 HG01069.hp1 HG01346.hp1 HG01516.hp2 HG01943.hp2 HG02027.hp2 HG02135.hp2 HG02280.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02738.hp1 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG03704.hp1 NA18983.hp2 NA18988.hp2 NA18995.hp2 NA19007.hp1 NA19012.hp1 NA19056.hp2 NA19062.hp1 NA19074.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0005c0016	a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 others(6): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0023 a0001c0005t0010 a0005c0016t0013	a0001c0001t0001g0245 a0001c0001t0001g0305 a0001c0001t0001g0313 others(22): Show a0001c0001t0001g0245 a0001c0001t0001g0305 a0001c0001t0001g0313 a0001c0001t0001g0332 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0353 a0001c0001t0001g0375 a0001c0001t0011g0013 a0001c0001t0011g0165 a0001c0001t0011g0166 a0001c0001t0011g0191 a0001c0001t0013g0247 a0001c0001t0013g0249 a0001c0002t0002g0015 a0001c0002t0002g0155 a0001c0002t0002g0160 a0001c0002t0002g0163 a0001c0002t0002g0182 a0001c0002t0005g0228 a0001c0002t0007g0241 a0001c0002t0023g0238 a0001c0005t0010g0141 a0005c0016t0013g0248	25	146	0.1712	15	c.111 others(34): Show c.1113+1180_1113+1181insCTTTCTTTCTTTCTT	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACRV1_chr11_125666522_125685847	125678974	C C	CATTATAT others(8): Show CATTATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01255.hp2 HG02486.hp1 HG01109.hp2 HG01255.hp2 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0027 a0002c0002t0003g0049 a0002c0002t0003g0027 a0002c0002t0003g0049	3	410	0.0073	15	c.53- others(28): Show c.53-678_53-677insATATATATATATAAT	ACRV1	ENSG00000134940.14	transcript	ENST00000533904.6	protein_coding	1/3			chr11	TogoVar
ACRV1_chr11_125666522_125685847	125679216	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0055 a0001c0001t0008g0055	1	209	0.0048	15	c.53- others(28): Show c.53-920_53-919insAAAAAAAAAAAAAAA	ACRV1	ENSG00000134940.14	transcript	ENST00000533904.6	protein_coding	1/3			chr11	TogoVar
ACSBG2_chr19_6130667_6198091	6166331	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03654.hp2 HG02647.hp2 HG03654.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0006 a0002c0002 a0006c0006	a0002c0002t0004 a0006c0006t0001 a0002c0002t0004 a0006c0006t0001	a0002c0002t0004g0106 a0006c0006t0001g0028 a0002c0002t0004g0106 a0006c0006t0001g0028	2	252	0.0079	15	c.738 others(30): Show c.738+316_738+317insGTGTGTGTGTGTGTG	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	7/14			chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6192071	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03834.hp2 HG03209.hp2 HG03834.hp2	a0003 a0010 a0003 a0010	a0003c0012 a0010c0010 a0003c0012 a0010c0010	a0003c0012t0002 a0010c0010t0002 a0003c0012t0002 a0010c0010t0002	a0003c0012t0002g0046 a0010c0010t0002g0054 a0003c0012t0002g0046 a0010c0010t0002g0054	2	99	0.0202	15	c.36 others(30): Show c.36-586_*36-572dupAAAAAAAAAAAAAAA	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSL1_chr4_184750595_184830968	184785615	G G	GGGGGGGG others(8): Show GGGGGGGGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0138 a0001c0001t0004g0138	1	309	0.0032	15	c.311 others(32): Show c.311-1625_311-1624insTCCCCCCCCCCCCCC	ACSL1	ENSG00000151726.16	transcript	ENST00000281455.7	protein_coding	3/20			chr4	TogoVar
ACSL3_chr2_222856036_222949639	222901964	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAATG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01515.hp1 HG01517.hp1 others(4): Show HG00558.hp2 HG01515.hp1 HG01517.hp1 HG02280.hp1 HG02976.hp2 HG03927.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0157 a0001c0001t0002g0158 others(4): Show a0001c0001t0002g0152 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0231 a0001c0001t0002g0232	7	24	0.2917	15	c.-41 others(32): Show c.-41+1184_-41+1185insAAAAAAAAAAAAATG	ACSL3	ENSG00000123983.15	transcript	ENST00000357430.8	protein_coding	3/16			chr2	TogoVar
ACSL5_chr10_112369116_112433376	112423215	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0021 a0001c0001t0007g0021	1	325	0.0031	15	c.159 others(32): Show c.1593+774_1593+775insTATATATATATATAT	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20			chr10	TogoVar
ACSM1_chr16_20618235_20702680	20672471	A A	AAAAAAAA others(8): Show AAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA18966.hp1 NA18988.hp2 HG01361.hp2 NA18966.hp1 NA18988.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0148 a0001c0003t0001g0151 a0001c0003t0001g0176 a0001c0003t0001g0148 a0001c0003t0001g0151 a0001c0003t0001g0176	3	172	0.0174	15	c.612 others(30): Show c.612-801_612-800insATATATTTTTTTTTT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	4/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20672471	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG00741.hp2 others(5): Show HG00438.hp2 HG00621.hp2 HG00741.hp2 HG02083.hp2 HG02135.hp2 NA18961.hp1 NA19070.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0217 a0001c0003t0001g0085 a0001c0003t0001g0109 others(5): Show a0001c0001t0002g0217 a0001c0003t0001g0085 a0001c0003t0001g0109 a0001c0003t0001g0128 a0001c0003t0001g0136 a0001c0003t0001g0141 a0001c0003t0001g0173 a0001c0003t0001g0216	8	177	0.0452	15	c.612 others(30): Show c.612-801_612-800insATATATATTTTTTTT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	4/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20672471	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA19001.hp1 HG02155.hp1 NA19001.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0129 a0001c0003t0001g0146 a0001c0003t0001g0129 a0001c0003t0001g0146	2	171	0.0117	15	c.612 others(30): Show c.612-801_612-800insATATATATATTTTTT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	4/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20672471	A A	AAATATAT others(8): Show AAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0311 a0001c0003t0001g0311	1	170	0.0059	15	c.612 others(30): Show c.612-801_612-800insATATATATATATATT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	4/13			chr16	TogoVar
ACSM5_chr16_20404534_20446336	20429841	C C	CCACCCCC others(8): Show CCACCCCCCAGGTCCG	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA19064.hp2 HG03831.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0037 a0001c0001t0010g0037	2	432	0.0046	15	c.112 others(30): Show c.1125+41_1125+42insACCCCCCAGGTCCGC	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20431945	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01257.hp1 HG01258.hp1 HG01081.hp2 HG01257.hp1 HG01258.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0009 a0006c0005t0009	a0006c0005t0009g0048 a0006c0005t0009g0325 a0006c0005t0009g0048 a0006c0005t0009g0325	3	374	0.0080	15	c.130 others(32): Show c.1308+626_1308+627insTAATAATAATAATAA	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSM6_chr10_95189238_95233929	95200615	G G	GAGAAGGA others(8): Show GAGAAGGAGAAGGAGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02922.hp2 others(1): Show HG02109.hp1 HG02258.hp1 HG02922.hp2 HG03579.hp1	a0004 a0005 a0004 a0005	a0004c0004 a0005c0006 a0004c0004 a0005c0006	a0004c0004t0001 a0005c0006t0001 a0004c0004t0001 a0005c0006t0001	a0004c0004t0001g0158 a0004c0004t0001g0163 a0005c0006t0001g0164 others(1): Show a0004c0004t0001g0158 a0004c0004t0001g0163 a0005c0006t0001g0164 a0005c0006t0001g0165	4	206	0.0194	15	c.193 others(32): Show c.193-1365_193-1364insGAGAAGGAGAAGAAG	ACSM6	ENSG00000173124.15	transcript	ENST00000394005.4	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSS3_chr12_81073079_81266210	81121915	A A	ATATTATT others(8): Show ATATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02080.hp2 HG02280.hp1 others(8): Show HG00423.hp1 HG02080.hp2 HG02280.hp1 HG02717.hp1 HG02976.hp1 HG03209.hp1 HG03486.hp1 HG03516.hp1 HG03579.hp2 NA19043.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0010 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0010 a0001c0002t0002 a0001c0005t0007 a0002c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0048 a0001c0001t0010g0022 a0001c0002t0002g0009 a0001c0005t0007g0003 a0001c0005t0007g0006 a0001c0005t0007g0011 a0001c0005t0007g0012 a0002c0004t0001g0267	11	164	0.0671	15	c.456 others(34): Show c.456+12231_456+12245dupATTATTATTATTATT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213558	C C	CCTCCTCT others(8): Show CCTCCTCTCCTCTCCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp2 HG03209.hp1 others(1): Show HG02559.hp2 HG02572.hp2 HG03209.hp1 NA18906.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0003 a0001c0005t0007g0150 a0001c0005t0007g0151 others(1): Show a0001c0005t0007g0003 a0001c0005t0007g0150 a0001c0005t0007g0151 a0001c0005t0007g0289	4	277	0.0144	15	c.135 others(34): Show c.1355-3331_1355-3317dupTCCTCTCCTCTCCTC	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213793	T T	TTTCTCTT others(8): Show TTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00735.hp1 others(21): Show HG00423.hp1 HG00597.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01168.hp1 HG01346.hp2 HG02027.hp2 HG02055.hp1 HG02080.hp2 HG02486.hp2 HG02698.hp1 HG02809.hp1 HG03540.hp1 HG03710.hp1 NA18944.hp2 NA18953.hp1 NA18981.hp1 NA19043.hp2 NA19084.hp1 NA19087.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010	a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0037 others(21): Show a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0001g0148 a0001c0001t0001g0224 a0001c0001t0001g0243 a0001c0001t0001g0249 a0001c0001t0003g0031 a0001c0001t0006g0017 a0001c0001t0008g0085 a0001c0001t0008g0086 a0001c0001t0008g0135 a0001c0001t0010g0022	24	207	0.1159	15	c.135 others(34): Show c.1355-3071_1355-3057dupTCTCTTCTCTTCTCT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213840	T T	TCTCTTCT others(8): Show TCTCTTCTCTCCTCTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01361.hp2 HG02129.hp2 others(13): Show HG01069.hp2 HG01361.hp2 HG02129.hp2 HG02132.hp1 HG02630.hp1 HG02698.hp2 HG02922.hp2 HG03492.hp1 HG03927.hp2 NA18954.hp2 NA19003.hp2 NA19055.hp1 NA19055.hp2 NA19064.hp1 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002	a0001c0001t0003g0236 a0001c0001t0003g0238 a0001c0001t0003g0247 others(13): Show a0001c0001t0003g0236 a0001c0001t0003g0238 a0001c0001t0003g0247 a0001c0001t0003g0259 a0001c0001t0004g0057 a0001c0001t0004g0097 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0178 a0001c0002t0002g0024 a0001c0002t0002g0036 a0001c0002t0002g0082 a0001c0002t0002g0118 a0001c0002t0002g0158 a0001c0002t0002g0171 a0001c0002t0002g0246	16	154	0.1039	15	c.135 others(34): Show c.1355-3057_1355-3056insTCTCTCCTCTCCTCT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213840	T T	TCTCTTCT others(8): Show TCTCTTCTCTTCTCTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp2 HG03710.hp2 others(1): Show HG00323.hp2 HG00738.hp2 HG03710.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0003 a0001c0002t0002 a0001c0005t0005 a0001c0001t0003 a0001c0002t0002 a0001c0005t0005	a0001c0001t0003g0215 a0001c0001t0003g0218 a0001c0002t0002g0056 others(1): Show a0001c0001t0003g0215 a0001c0001t0003g0218 a0001c0002t0002g0056 a0001c0005t0005g0223	4	142	0.0282	15	c.135 others(34): Show c.1355-3057_1355-3056insTCTCTTCTCTCCTCT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213957	C C	CTCTTCTT others(8): Show CTCTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG01496.hp2 HG00423.hp1 HG00597.hp1 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0001 a0001c0001t0006 a0001c0001t0010	a0001c0001t0001g0042 a0001c0001t0006g0017 a0001c0001t0010g0022 a0001c0001t0001g0042 a0001c0001t0006g0017 a0001c0001t0010g0022	3	62	0.0484	15	c.135 others(34): Show c.1355-2940_1355-2939insCTTTCTTTCTTTCTT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81251668	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02922.hp1 HG02976.hp2 others(6): Show HG02895.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp1 NA18981.hp2 NA18994.hp2 NA19058.hp1 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0015 a0001c0001 a0002c0004 a0002c0015	a0001c0001t0003 a0001c0001t0004 a0002c0004t0004 others(1): Show a0001c0001t0003 a0001c0001t0004 a0002c0004t0004 a0002c0015t0003	a0001c0001t0003g0208 a0001c0001t0004g0072 a0001c0001t0004g0089 others(6): Show a0001c0001t0003g0208 a0001c0001t0004g0072 a0001c0001t0004g0089 a0001c0001t0004g0124 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0002c0004t0004g0285 a0002c0015t0003g0041	9	171	0.0526	15	c.172 others(34): Show c.1720-1637_1720-1623dupAAAAAAAAAAAAAAA	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTA2_chr10_88930074_88957773	88932032	G G	GATTATTA others(8): Show GATTATTATTATTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00738.hp2 others(26): Show HG00099.hp2 HG00323.hp1 HG00738.hp2 HG01109.hp1 HG01516.hp2 HG02015.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp1 HG02280.hp1 HG02486.hp1 HG02738.hp1 HG02976.hp2 HG03195.hp2 HG03492.hp1 HG04115.hp1 HG04204.hp1 NA18747.hp2 NA18950.hp2 NA18984.hp2 NA18990.hp2 NA18998.hp2 NA19001.hp1 NA19007.hp2 NA19010.hp1 NA19077.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0058 a0001c0001t0001g0068	29	186	0.1559	15	c.31 others(26): Show c.3176_*3190dupAATAATAATAATAAT	ACTA2	ENSG00000107796.13	transcript	ENST00000224784.10	protein_coding		3041		chr10	TogoVar
ACTA2_chr10_88930074_88957773	88932049	T T	TTATTATT others(8): Show TTATTATTATTATTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	15	c.31 others(26): Show c.3173_*3174insCTAATAATAATAATA	ACTA2	ENSG00000107796.13	transcript	ENST00000224784.10	protein_coding		3024		chr10	TogoVar
ACTG2_chr2_73888008_73924865	73923641	C C	CAAGAAAA others(8): Show CAAGAAAAGAAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01192.hp1 HG01261.hp2 others(16): Show HG00639.hp1 HG01192.hp1 HG01261.hp2 HG01516.hp2 HG02040.hp1 HG02486.hp1 HG02602.hp2 HG02723.hp1 HG02818.hp2 HG02970.hp1 HG03486.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG04184.hp2 NA18955.hp2 NA18980.hp1 NA18988.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0068 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0068 a0001c0001t0001g0103 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0266 a0001c0001t0003g0037 a0001c0001t0003g0343 a0001c0001t0004g0003 a0001c0002t0001g0007 a0001c0002t0001g0272 a0001c0002t0003g0257 a0001c0002t0004g0326 a0001c0002t0004g0331	19	115	0.1652	15	c.40 others(26): Show c.4066_*4067insAAGAAAAGAAAAGAA	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding		3777		chr2	TogoVar
ACTL9_chr19_8692400_8703795	8694853	A A	AGAGAGAG others(8): Show AGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	52	0.0192	15	c.25 others(26): Show c.2597_*2598insCTCTCTCTCTCTCTC	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding		2546		chr19	TogoVar
ACTN1_chr14_68869128_68984302	68881955	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	103	0.0097	15	c.195 others(32): Show c.1953+502_1953+503insTCAAAAAAAAAAAAA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	16/21			chr14	TogoVar
ACTN2_chr1_236681499_236769631	236721015	G G	GGTTTTTT others(8): Show GGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01169.hp1 HG01928.hp1 others(9): Show HG00423.hp2 HG01169.hp1 HG01928.hp1 HG01975.hp1 HG02145.hp1 HG02602.hp1 HG03017.hp2 HG03490.hp2 HG03704.hp2 NA18983.hp2 NA19009.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0025 a0001c0001 a0001c0002 a0001c0025	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0002 a0001c0025t0006	a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0276 others(9): Show a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0276 a0001c0001t0001g0296 a0001c0001t0001g0316 a0001c0001t0001g0340 a0001c0001t0003g0024 a0001c0001t0003g0302 a0001c0001t0004g0076 a0001c0001t0006g0134 a0001c0002t0002g0271 a0001c0025t0006g0122	12	143	0.0839	15	c.448 others(30): Show c.448+824_448+825insGTTTTTTTTTTTTTT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	4/20			chr1	TogoVar
ACTN2_chr1_236681499_236769631	236758596	T T	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02486.hp1 HG02895.hp1 others(2): Show HG01109.hp2 HG02486.hp1 HG02895.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0009 a0001c0001t0015 a0001c0007t0015 a0001c0001t0009 a0001c0001t0015 a0001c0007t0015	a0001c0001t0009g0073 a0001c0001t0009g0092 a0001c0001t0009g0150 others(2): Show a0001c0001t0009g0073 a0001c0001t0009g0092 a0001c0001t0009g0150 a0001c0001t0015g0117 a0001c0007t0015g0097	5	207	0.0242	15	c.230 others(32): Show c.2301+982_2301+996dupTTGTTTTGTTTTGTT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN3_chr11_66541903_66568334	66542837	A A	AGCGATCA others(8): Show AGCGATCATTGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02622.hp1 HG03225.hp2 others(3): Show HG01243.hp2 HG02622.hp1 HG03225.hp2 HG03471.hp2 HG03579.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0003c0007 a0001c0001 a0003c0003 a0003c0007	a0001c0001t0001 a0003c0003t0002 a0003c0007t0001 a0001c0001t0001 a0003c0003t0002 a0003c0007t0001	a0001c0001t0001g0102 a0001c0001t0001g0103 a0003c0003t0002g0160 others(3): Show a0001c0001t0001g0102 a0001c0001t0001g0103 a0003c0003t0002g0160 a0003c0007t0001g0170 a0003c0007t0001g0171 a0003c0007t0001g0172	6	398	0.0151	15	c.-41 others(26): Show c.-4101_-4100insGCGATCATTGAAGAG	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding		4065		chr11	TogoVar
ACTN4_chr19_38642649_38736589	38659065	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0293 a0001c0002t0039g0293	1	102	0.0098	15	c.162 others(34): Show c.162+11171_162+11172insTTTTTTTTTTTTTTT	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38728410	G G	GCTCCTCC others(8): Show GCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01257.hp2 HG01099.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0063 a0001c0002t0001g0030 a0001c0002t0001g0063	2	180	0.0111	15	c.241 others(32): Show c.2418+410_2418+424dupTCCTCCTCCTCCTCC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735687	G G	GGGGGCGG others(8): Show GGGGGCGGGGCGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG01168.hp1 others(6): Show HG00639.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp2 HG02451.hp2 HG02723.hp1 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0013 a0001c0003 a0001c0005 a0001c0013	a0001c0003t0004 a0001c0005t0007 a0001c0013t0004 a0001c0003t0004 a0001c0005t0007 a0001c0013t0004	a0001c0003t0004g0091 a0001c0003t0004g0179 a0001c0003t0004g0180 others(5): Show a0001c0003t0004g0091 a0001c0003t0004g0179 a0001c0003t0004g0180 a0001c0003t0004g0185 a0001c0003t0004g0188 a0001c0005t0007g0002 a0001c0005t0007g0078 a0001c0013t0004g0187	9	267	0.0337	15	c.62 others(26): Show c.6255_*6256insGGGGCGGGGCGGGGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4099		chr19	TogoVar

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