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
ADAMTSL2_chr9_133529704_133580519	133539653	A A	ACGGCTGT others(38): Show ACGGCTGTCCCGGCTGTCCCGGCTGTCCCGGCTGTCCCGGCTGTCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00544.hp2 others(13): Show HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG01257.hp2 HG01261.hp1 HG02040.hp1 HG02145.hp1 HG02572.hp2 HG02602.hp1 HG02809.hp1 HG02922.hp1 HG03041.hp1 NA18973.hp1 NA18983.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0019 a0002c0002 a0002c0004 a0003c0014	a0001c0001t0001 a0001c0001t0009 a0001c0003t0002 others(9): Show a0001c0001t0001 a0001c0001t0009 a0001c0003t0002 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0006t0008 a0001c0007t0001 a0001c0019t0006 a0002c0002t0002 a0002c0004t0003 a0003c0014t0002	a0001c0001t0001g0013 a0001c0001t0001g0120 a0001c0001t0009g0001 others(13): Show a0001c0001t0001g0013 a0001c0001t0001g0120 a0001c0001t0009g0001 a0001c0003t0002g0033 a0001c0003t0002g0061 a0001c0005t0001g0127 a0001c0005t0002g0143 a0001c0005t0002g0144 a0001c0005t0003g0014 a0001c0006t0008g0074 a0001c0007t0001g0073 a0001c0019t0006g0117 a0002c0002t0002g0002 a0002c0004t0003g0067 a0002c0004t0003g0068 a0003c0014t0002g0098	16	26	0.6154	45	c.310 others(58): Show c.310-85_310-84insTCCCGGCTGTCCCGGCTGTCCCGGCTGTCCCG GCTGTCCCGGCTG	ADAMTSL2	ENSG00000197859.11	transcript	ENST00000651351.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADARB1_chr21_45069580_45231560	45074598	T T	TGGCGGCG others(38): Show TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0127 a0001c0001t0127	a0001c0001t0127g0175 a0001c0001t0127g0175	1	264	0.0038	45	c.-39 others(54): Show c.-391_-390insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGC	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	1/11	97034	INFO_REALIGN_3_PRIME	chr21	TogoVar
ADAT1_chr16_75591868_75628281	75624133	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	68	0.0147	45	c.-17 others(56): Show c.-1753_-1752insATATATATATATATATATATATATATATATATAT ATATATATATA	ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding		853		chr16	TogoVar
ADAT1_chr16_75591868_75628281	75624133	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0099 a0003c0003t0010g0099	1	68	0.0147	45	c.-17 others(56): Show c.-1753_-1752insAAAAAAAAAAAAATATATATATATATATATATAT ATATATATATA	ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding		853		chr16	TogoVar
ADCY5_chr3_123277296_123454090	123303893	G G	GAAGAGAA others(38): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	8	0.1250	45	c.255 others(62): Show c.2559+173_2559+174insTTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTCTCTT	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	13/20			chr3	TogoVar
ADCY5_chr3_123277296_123454090	123313014	A A	AGGAGGGT others(38): Show AGGAGGGTCAGTGGAGAGGCCTTGAGGAAGGAGGGTCAGTGGAGAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01109.hp1 HG01884.hp1 others(17): Show HG00438.hp2 HG01109.hp1 HG01884.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02486.hp2 HG02559.hp1 HG02647.hp1 HG02809.hp2 HG02818.hp1 HG03041.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 NA18522.hp2 NA18747.hp2 NA18960.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 others(1): Show a0001c0001 a0001c0003 a0001c0008 a0001c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0003t0007 a0001c0003t0018 a0001c0008t0005 a0001c0022t0015	a0001c0001t0001g0108 a0001c0001t0001g0125 a0001c0001t0001g0128 others(17): Show a0001c0001t0001g0108 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0167 a0001c0001t0001g0190 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0005g0163 a0001c0001t0006g0004 a0001c0001t0006g0023 a0001c0001t0006g0039 a0001c0001t0014g0154 a0001c0001t0014g0194 a0001c0003t0007g0114 a0001c0003t0007g0186 a0001c0003t0007g0202 a0001c0003t0018g0021 a0001c0008t0005g0087 a0001c0022t0015g0201	20	258	0.0775	45	c.244 others(64): Show c.2442+1220_2442+1221insCTCTCCACTGACCCTCCTTCCTCAAG GCCTCTCCACTGACCCTCC	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	12/20			chr3	TogoVar
ADD1_chr4_2838844_2935062	2852207	C C	CCTTTCTT others(38): Show CCTTTCTTTCCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0315 a0003c0003t0001g0315	1	55	0.0182	45	c.-21 others(62): Show c.-21+8188_-21+8189insTTTCCTTTCCTTTCTTTCCTTTCTTTCC TTTCTTTCCTTTCTTTC	ADD1	ENSG00000087274.19	transcript	ENST00000683351.1	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADD1_chr4_2838844_2935062	2852207	C C	CCTTTCTT others(38): Show CCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCCTTTCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0241 a0001c0005t0001g0241	1	55	0.0182	45	c.-21 others(62): Show c.-21+8188_-21+8189insTTTCCTTTCTTTCCTTTCTTTCCTTTCC TTTCTTTCCTTTCTTTC	ADD1	ENSG00000087274.19	transcript	ENST00000683351.1	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADD3_chr10_110002984_110140565	110065539	C C	CTTTTTTT others(38): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	63	0.0159	45	c.-29 others(64): Show c.-29-35068_-29-35067insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	ADD3	ENSG00000148700.15	transcript	ENST00000356080.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRB3_chr6_68630282_69394506	69031552	T T	TCTTTCTT others(38): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0013 a0001c0003t0001g0013	1	114	0.0088	45	c.210 others(66): Show c.2107+13053_2107+13054insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTC	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	13/31			chr6	TogoVar
ADGRE5_chr19_14376444_14413723	14389174	A A	AGGGGGAG others(38): Show AGGGGGAGAGGAAGGGGAAGAGGGAGAGGAAGGGGAAGAGGGAGAG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA19089.hp1 NA18967.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0001g0108 a0001c0001t0001g0118	2	372	0.0054	45	c.190 others(60): Show c.190+384_190+385insAAGGGGAAGAGGGAGAGGGGGGAGAGGAAG GGGAAGAGGGAGAGG	ADGRE5	ENSG00000123146.20	transcript	ENST00000242786.6	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
ADGRE5_chr19_14376444_14413723	14389194	A A	AGGGAGAG others(38): Show AGGGAGAGGAAGGGGAAGAGGGAGAGGGGGAGAGGAAGGGGAAGAG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	372	0.0027	45	c.190 others(60): Show c.190+384_190+385insAAGGGGAAGAGGGAGAGGGGGAGAGGAAGG GGAAGAGGGGAGAGG	ADGRE5	ENSG00000123146.20	transcript	ENST00000242786.6	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
ADGRV1_chr5_90553797_91169437	91035861	T T	TATTATAT others(38): Show TATTATATATATATATATATATAATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0072 a0072	a0072c0044 a0072c0044	a0072c0044t0003 a0072c0044t0003	a0072c0044t0003g0003 a0072c0044t0003g0003	1	47	0.0213	45	c.181 others(68): Show c.18153-36586_18153-36585insATTATATATATATATATATATA ATATATATATATATATATATATA	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	85/89			chr5	TogoVar
ADK_chr10_74146221_74714290	74274732	G G	GTATATAT others(38): Show GTATATATATATATATATATATATATATATATATACACACATTATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0034 a0001c0001t0001g0035	2	78	0.0256	45	c.195 others(64): Show c.195-39919_195-39918insTATATATATATATATATACACACATT ATATATATATATATATATA	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADRA1D_chr20_4215630_4254287	4227704	C C	CTCCCTCC others(38): Show CTCCCTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	177	0.0056	45	c.111 others(64): Show c.1112-5575_1112-5574insAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGGAAGGAGGGA	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
ADRM1_chr20_62297997_62313862	62309636	G G	GGTGGGAG others(38): Show GGTGGGAGGGGGCAGGGGGTGGAGGGGTGGGGGGGTGGGAGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG00738.hp1 others(49): Show HG00280.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01109.hp1 HG02071.hp1 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02280.hp1 HG02559.hp1 HG02602.hp2 HG02630.hp1 HG02698.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03704.hp1 HG03831.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18947.hp2 NA18948.hp2 NA18962.hp1 NA18970.hp1 NA18980.hp1 NA19012.hp1 NA19058.hp2 NA19074.hp1 NA19240.hp1 NA20300.hp2 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0006c0013	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0006c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0066 a0001c0002t0002g0008 a0001c0002t0002g0028 a0001c0003t0001g0007 a0001c0004t0001g0022 a0001c0006t0001g0003 a0001c0007t0001g0024 a0006c0013t0001g0001	52	325	0.1600	45	c.87 others(54): Show c.875_*876insGTGGGAGGGGGCAGGGGGTGGAGGGGTGGGGGGGTG GGAGGGGGT	ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding		775		chr20	TogoVar
AFDN_chr6_167821911_167977023	167976200	T T	TGTGTGGG others(38): Show TGTGTGGGGAGGAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18985.hp1 NA18522.hp1 NA18985.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0001 a0001c0003t0001 a0001c0005t0001	a0001c0003t0001g0108 a0001c0005t0001g0044 a0001c0003t0001g0108 a0001c0005t0001g0044	2	239	0.0084	45	c.62 others(56): Show c.6265_*6266insGTGTGGGGAGGAGGAGGCAGTGGGGGTCACTCCC CCTGCAGTGTG	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4178		chr6	TogoVar
AFDN_chr6_167821911_167977023	167976591	G G	GAGGCAGT others(38): Show GAGGCAGTGGGGGTCATTCCCCCTGCAGTGTTGGGGGAGGAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	311	0.0032	45	c.66 others(56): Show c.6656_*6657insAGGCAGTGGGGGTCATTCCCCCTGCAGTGTTGGG GGAGGAGAAGA	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4569		chr6	TogoVar
AFDN_chr6_167821911_167977023	167976611	C C	CCCTGCAG others(38): Show CCCTGCAGTGTTGGGGGAGGAGAAGAAGGCAGTGGGGGTCATTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0199 a0001c0005t0008g0200 a0001c0005t0008g0199 a0001c0005t0008g0200	2	321	0.0062	45	c.66 others(56): Show c.6676_*6677insCCTGCAGTGTTGGGGGAGGAGAAGAAGGCAGTGG GGGTCATTCCT	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4589		chr6	TogoVar
AFF2_chrX_148495617_149005663	148614738	T T	TTTCTTTT others(38): Show TTTCTTTTCTTTCTTTCTTTCCTTCTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0107 a0001c0002t0018g0107	1	70	0.0143	45	c.48- others(62): Show c.48-37259_48-37258insCTTTTCTTTCTTTCTTTCCTTCTTTTCT TTCTTTCTTTCTTTCTT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGBL1_chr15_86074871_86921156	86385957	C C	CCCCCATC others(38): Show CCCCCATCCCCCCTCCTCCCCTCTCCCTCTCATCCTCCTCCTCTCT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03209.hp1 HG03579.hp1 HG01346.hp2 HG03209.hp1 HG03579.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0007 a0006c0058 a0001c0001 a0001c0007 a0006c0058	a0001c0001t0009 a0001c0007t0038 a0006c0058t0010 a0001c0001t0009 a0001c0007t0038 a0006c0058t0010	a0001c0001t0009g0103 a0001c0007t0038g0129 a0006c0058t0010g0053 a0001c0001t0009g0103 a0001c0007t0038g0129 a0006c0058t0010g0053	3	132	0.0227	45	c.237 others(66): Show c.2375-11359_2375-11315dupATCCCCCCTCCTCCCCTCTCCCTC TCATCCTCCTCCTCTCTCCCC	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL4_chr1_48527854_50028954	48710917	T T	TAAGATCC others(38): Show TAAGATCCAGCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	100	0.0100	45	c.635 others(64): Show c.635-47677_635-47676insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGCTGGATCTT	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	6/13			chr1	TogoVar
AGTPBP1_chr9_85541539_85746954	85689925	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0013 a0001c0013t0013	a0001c0013t0013g0295 a0001c0013t0013g0295	1	154	0.0065	45	c.157 others(62): Show c.157+2763_157+2764insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTT	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	3/25			chr9	TogoVar
AGTR1_chr3_148692903_148748003	148745773	A A	ATATTTTA others(38): Show ATATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01081.hp1 HG01099.hp1 others(25): Show HG00738.hp1 HG01081.hp1 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01346.hp1 HG01346.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG02055.hp1 HG02280.hp1 HG02602.hp1 HG02717.hp2 HG02735.hp2 HG03139.hp2 HG03688.hp1 HG03831.hp1 HG03834.hp1 HG04199.hp2 HG04204.hp1 NA18944.hp1 NA18945.hp2 NA18959.hp2 NA18968.hp2 NA18994.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 a0001c0003t0002	a0001c0001t0001g0015 a0001c0001t0001g0045 a0001c0001t0001g0046 others(23): Show a0001c0001t0001g0015 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0176 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0002g0033 a0001c0001t0003g0129 a0001c0001t0008g0025 a0001c0001t0008g0068 a0001c0001t0008g0180 a0001c0001t0008g0189 a0001c0002t0001g0001 a0001c0003t0002g0208 a0001c0003t0002g0209	28	71	0.3944	45	c.36 others(56): Show c.3658_*3659insTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTT	AGTR1	ENSG00000144891.19	transcript	ENST00000349243.8	protein_coding		2771		chr3	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0022 a0004c0003t0022	a0004c0003t0022g0247 a0004c0003t0022g0247	1	103	0.0097	45	c.-10 others(62): Show c.-10-3204_-10-3203insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	443229	G G	GGGCGGCG others(38): Show GGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	47	0.0213	45	c.83 others(56): Show c.8395_*8396insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG GCGGCGGCGGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		4945		chr5	TogoVar
AHR_chr7_17293652_17351147	17298580	T T	TGGGCGGG others(38): Show TGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0008 a0002c0002t0002g0008	1	7	0.1429	45	c.-68 others(54): Show c.-685_-684insGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGG GGCGGGGCG	AHR	ENSG00000106546.14	transcript	ENST00000242057.9	protein_coding		71		chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0338 a0001c0001t0002g0338	1	47	0.0213	45	c.135 others(60): Show c.135+477_135+478insAAAAAAAAAAAAATATATATATATATATAT ATATATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAATAT others(38): Show AAAAATATACATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0304 a0001c0001t0002g0304	1	47	0.0213	45	c.135 others(60): Show c.135+477_135+478insAAATATACATATATATATATATATATATAT ATATATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AK7_chr14_96387128_96494427	96418322	T T	TAAAAAAA others(38): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	31	0.0323	45	c.499 others(62): Show c.499-2485_499-2484insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP10_chr17_19899302_19982828	19951156	G G	GGCAGCCG others(38): Show GGCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGTCAGCCCCCGCCC	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0148 a0002c0002t0001g0148	1	276	0.0036	45	c.878 others(62): Show c.878-3652_878-3651insGGGCGGGGGCTGACCCCCCACCTCCCTC CCAGATGGGGCGGCTGC	AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	4/14			chr17	TogoVar
AKAP6_chr14_32324298_32842684	32811255	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0061 a0002c0005t0002g0061	1	67	0.0149	45	c.358 others(66): Show c.3589-10146_3589-10145insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKIRIN2_chr6_87669860_87707233	87674642	A A	ATTTATAA others(38): Show ATTTATAAATATATATATATATAAATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0063 a0001c0002t0007g0063	1	382	0.0026	45	c.95 others(54): Show c.954_*955insAAATATATATATATATATATATTTATATATATATAT ATTTATAAA	AKIRIN2	ENSG00000135334.9	transcript	ENST00000257787.6	protein_coding		217		chr6	TogoVar
AKR1C8_chr10_5148920_5190150	5185611	A A	ACCCCCCC others(38): Show ACCCCCCCCCCCCCCCCTCCCCCCCCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0087 a0003c0004t0002g0087	1	406	0.0025	45	c.-50 others(54): Show c.-508_-507insGGGGGGGGGGGGGGGGGGGGGGGGGGGGAGGGGGGG GGGGGGGGG	AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding		462		chr10	TogoVar
AKT3_chr1_243494724_243855243	243521091	C C	CTTCTATT others(38): Show CTTCTATTGTTCCTTCCAGGGGCTTAAGAAATAGACTGGAGAACTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	300	0.0033	45	c.125 others(64): Show c.1252-8710_1252-8666dupAAGTTCTCCAGTCTATTTCTTAAGCC CCTGGAAGGAACAATAGAA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ALK_chr2_29187774_29926586	29802359	C C	CAGGGGAG others(38): Show CAGGGGAGGGGAGGGGAGGGCAGGGGAGGGGAGGGGAAGGCAGGGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02258.hp1 HG02738.hp2 HG00738.hp1 HG02258.hp1 HG02738.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0002c0030 a0003c0054 a0002c0001 a0002c0030 a0003c0054	a0002c0001t0001 a0002c0030t0001 a0003c0054t0002 a0002c0001t0001 a0002c0030t0001 a0003c0054t0002	a0002c0001t0001g0062 a0002c0030t0001g0060 a0003c0054t0002g0069 a0002c0001t0001g0062 a0002c0030t0001g0060 a0003c0054t0002g0069	3	60	0.0500	45	c.668 others(64): Show c.668-84663_668-84662insCCCCTGCCTTCCCCTCCCCTCCCCTG CCCTCCCCTCCCCTCCCCT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALOX12_chr17_6991049_7015754	7006059	C C	CGGGGGGG others(38): Show CGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0001 a0008c0020t0001	a0008c0020t0001g0074 a0008c0020t0001g0074	1	31	0.0323	45	c.141 others(60): Show c.1418+32_1418+33insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGG	ALOX12	ENSG00000108839.12	transcript	ENST00000251535.11	protein_coding	10/13			chr17	TogoVar
ALPP_chr2_232373751_232387889	232385077	G G	GGAAGAAG others(38): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0034 a0002c0009t0001g0034	1	260	0.0038	45	c.32 others(56): Show c.3282_*3283insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAA	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2189		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(38): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA21309.hp1 NA18985.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	221	0.0090	45	c.33 others(56): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(38): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG03669.hp1 NA18952.hp1 others(1): Show HG01074.hp2 HG03669.hp1 NA18952.hp1 NA18978.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0004c0004t0011 a0001c0001t0001 a0002c0002t0001 a0004c0004t0011	a0001c0001t0001g0001 a0002c0002t0001g0007 a0004c0004t0011g0002 a0001c0001t0001g0001 a0002c0002t0001g0007 a0004c0004t0011g0002	4	223	0.0179	45	c.33 others(56): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(38): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18992.hp2 NA18945.hp1 NA18992.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0002 a0002c0002t0001g0007	2	221	0.0090	45	c.33 others(56): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GGAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(38): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02970.hp1 HG01175.hp1 HG02970.hp1	a0002 a0004 a0002 a0004	a0002c0010 a0004c0004 a0002c0010 a0004c0004	a0002c0010t0005 a0004c0004t0001 a0002c0010t0005 a0004c0004t0001	a0002c0010t0005g0011 a0004c0004t0001g0002 a0002c0010t0005g0011 a0004c0004t0001g0002	2	221	0.0090	45	c.33 others(56): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGA GGAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(38): Show AAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGAGGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0002 a0004c0004t0006g0002	1	220	0.0045	45	c.33 others(56): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGA GGAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(38): Show AAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGAGGAGGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	220	0.0045	45	c.33 others(56): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGAGGA GGAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(38): Show AAGAAGAAGAAGAAGAAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0002 a0004c0004t0001g0002	1	220	0.0045	45	c.33 others(56): Show c.3320_*3321insAGAAGAAGAAGAAGAAGGAGGAGGAGGAGGAGGA GGAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
AMPH_chr7_38378704_38636373	38570972	T T	TATATATT others(38): Show TATATATTTATATATATAGAATATATATATAGAATATATATATAGA	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18974.hp1 NA19058.hp2 NA18965.hp2 NA18974.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0052 a0001c0001t0003g0067 a0001c0002t0002g0068 a0001c0001t0003g0052 a0001c0001t0003g0067 a0001c0002t0002g0068	3	152	0.0197	45	c.70- others(62): Show c.70-35962_70-35961insTCTATATATATATTCTATATATATATTC TATATATATAAATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
ANAPC5_chr12_121303245_121357411	121352715	T T	TTGGTGGT others(38): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	238	0.0042	45	c.-37 others(54): Show c.-376_-375insCCACCACCACCACCACCACCACCACCACCACCACCA CCACCACCA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		305		chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121352718	T T	TTGGTGGT others(38): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 NA18952.hp1 NA18952.hp2 others(2): Show HG02258.hp2 NA18952.hp1 NA18952.hp2 NA18983.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0167 a0001c0001t0001g0212 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0167 a0001c0001t0001g0212 a0001c0001t0001g0222 a0001c0001t0001g0224	5	129	0.0388	45	c.-37 others(54): Show c.-379_-378insCCACCACCACCACCACCACCACCACCACCACCACCA CCACCACCA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		308		chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121352718	T T	TTGTTGGT others(38): Show TTGTTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01074.hp2 NA18982.hp2 HG00639.hp1 HG01074.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0160 a0001c0001t0001g0183 a0001c0001t0001g0019 a0001c0001t0001g0160 a0001c0001t0001g0183	3	127	0.0236	45	c.-37 others(54): Show c.-379_-378insCCACCACCACCACCACCACCACCACCACCACCACCA CCACCAACA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		308		chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121352718	T T	TTGTTGTT others(38): Show TTGTTGTTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	125	0.0080	45	c.-37 others(54): Show c.-379_-378insCCACCACCACCACCACCACCACCACCACCACCACCA CCAACAACA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		308		chr12	TogoVar

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