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
ADGRV1_chr5_90553797_91169437	90569387	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0065 a0065	a0065c0053 a0065c0053	a0065c0053t0001 a0065c0053t0001	a0065c0053t0001g0017 a0065c0053t0001g0017	1	100	0.0100	27	c.22+ others(44): Show c.22+10471_22+10472insATATATATATATATATATATTTTTTTT	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	1/89		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADIPOQ_chr3_186837710_186863463	186863244	G G	GTCCTCCC others(20): Show GTCCTCCCTCTCCCTCTCCCTCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 NA19240.hp2 HG02818.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0016 a0001c0001t0008g0048 a0001c0001t0008g0016 a0001c0001t0008g0048	2	475	0.0042	27	c.85 others(38): Show c.8540_*8541insTCCTCCCTCTCCCTCTCCCTCTCCCTC	ADIPOQ	ENSG00000181092.10	transcript	ENST00000320741.7	protein_coding		4782		chr3	TogoVar
ADK_chr10_74146221_74714290	74280415	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	74	0.0135	27	c.195 others(46): Show c.195-34252_195-34251insCACACACACACACACACACACACACA C	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	3/10			chr10	TogoVar
ADK_chr10_74146221_74714290	74303585	G G	GTTTTGTT others(20): Show GTTTTGTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	147	0.0068	27	c.195 others(46): Show c.195-11080_195-11079insTTGTTTTTTTTTTTTTTTTTTTTTTT T	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADK_chr10_74146221_74714290	74303585	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0058 a0002c0003t0002g0058	1	147	0.0068	27	c.195 others(46): Show c.195-11080_195-11079insTTTTTTTTTTTTTTTTTTTTTTTTTT T	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADK_chr10_74146221_74714290	74303588	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	68	0.0147	27	c.195 others(46): Show c.195-11053_195-11052insTTTTTTTTTTTTTTTTTTTTTTTTTT T	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADORA2B_chr17_15940130_15980746	15976067	G G	GAAAAAAA others(20): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	276	0.0036	27	c.72 others(36): Show c.725_*726insAAAAAAAAAAAAAAAAAAAAAAAAAAA	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding		322		chr17	TogoVar
ADORA2B_chr17_15940130_15980746	15976098	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	174	0.0057	27	c.75 others(36): Show c.756_*757insAAAAAAAAAAAAAAAAAAAATATATAT	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding		353		chr17	TogoVar
ADORA2B_chr17_15940130_15980746	15976098	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	174	0.0057	27	c.75 others(36): Show c.756_*757insAAAAAAAAAAAAAATATATATATATAT	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding		353		chr17	TogoVar
ADORA3_chr1_111494429_111508633	111502049	A A	ATATAATA others(20): Show ATATAATAAATATATAGGATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp1 others(53): Show HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01168.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG02040.hp2 HG02056.hp1 HG02083.hp1 HG02155.hp1 HG02280.hp1 HG02486.hp1 HG02683.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03490.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG04199.hp2 NA18612.hp1 NA18946.hp2 NA18949.hp1 NA18955.hp1 NA18960.hp2 NA18964.hp2 NA18968.hp1 NA18970.hp1 NA18972.hp2 NA18986.hp1 NA18990.hp2 NA18994.hp1 NA19000.hp1 NA19003.hp2 NA19009.hp1 NA19063.hp1 NA19064.hp1 NA19068.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19084.hp2 NA19086.hp2 NA20129.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0003 a0006c0010 a0001c0001 a0002c0003 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0002c0003t0002 a0006c0010t0002	a0001c0001t0001g0043 a0001c0001t0002g0004 a0001c0001t0002g0010 others(7): Show a0001c0001t0001g0043 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0008g0055 a0002c0003t0002g0006 a0002c0003t0002g0021 a0006c0010t0002g0036	56	455	0.1231	27	c.350 others(42): Show c.350+929_350+955dupATATATATATCCTATATATTTATTATA	ADORA3	ENSG00000282608.2	transcript	ENST00000241356.5	protein_coding	1/1			chr1	TogoVar
ADORA3_chr1_111494429_111508633	111502049	A A	ATATAATA others(20): Show ATATAATAAATATATAGGATATATGTAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	400	0.0025	27	c.350 others(42): Show c.350+955_350+956insATACATATATCCTATATATTTATTATA	ADORA3	ENSG00000282608.2	transcript	ENST00000241356.5	protein_coding	1/1			chr1	TogoVar
ADPRHL1_chr13_113394611_113458488	113408848	A A	AGGGGGCT others(20): Show AGGGGGCTGCAGAGAGGAGGGGAGGAGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0094 a0002c0007t0094	a0002c0007t0094g0008 a0002c0007t0094g0008	1	136	0.0074	27	c.106 others(44): Show c.1062-629_1062-628insCCTCCTCCCCTCCTCTCTGCAGCCCCC	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ADRA1D_chr20_4215630_4254287	4231038	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	311	0.0032	27	c.111 others(46): Show c.1112-8909_1112-8908insGAAAGAAAGAAAGAAAGAAAGAAAGA A	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
AFAP1L1_chr5_149266859_149348637	149307818	T T	TCTCTCTC others(20): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp2 NA18982.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0024 a0001c0001t0002g0043 a0001c0001t0001g0024 a0001c0001t0002g0043	2	16	0.1250	27	c.747 others(42): Show c.747+205_747+206insCTCTCTCTCTCTCTCTCTCTCTCTCTC	AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	7/18			chr5	TogoVar
AFAP1L2_chr10_114289824_114409502	114327147	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	39	0.0256	27	c.316 others(44): Show c.316-3887_316-3886insTATATATATATATATATATATATATAT	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	4/18			chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114327174	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA18952.hp1 HG01106.hp1 NA18952.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0107 a0001c0003t0002g0195 a0001c0003t0002g0107 a0001c0003t0002g0195	2	255	0.0078	27	c.316 others(44): Show c.316-3914_316-3913insTATATATATATATATATATATATATAT	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	4/18			chr10	TogoVar
AFAP1_chr4_7753714_7944861	7827569	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02895.hp1 HG02293.hp2 HG02895.hp1	a0002 a0003 a0002 a0003	a0002c0005 a0003c0006 a0002c0005 a0003c0006	a0002c0005t0004 a0003c0006t0005 a0002c0005t0004 a0003c0006t0005	a0002c0005t0004g0306 a0003c0006t0005g0137 a0002c0005t0004g0306 a0003c0006t0005g0137	2	48	0.0417	27	c.727 others(44): Show c.727-8399_727-8398insTTTTTTTTTTTTTTTTTTTTTTTTTTT	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	6/17			chr4	TogoVar
AFF2_chrX_148495617_149005663	148500637	T T	TGCCGCCG others(20): Show TGCCGCCGCCGCCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0021 a0001c0001t0049g0021	1	44	0.0227	27	c.-44 others(36): Show c.-440_-414dupCGCCGCCGCCGCCGCCGCCGCCGCCGC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/21	413	INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148614716	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02896.hp1 HG03486.hp1 HG01891.hp2 HG02896.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0056 a0001c0001t0057 a0001c0004t0066 a0001c0001t0056 a0001c0001t0057 a0001c0004t0066	a0001c0001t0056g0120 a0001c0001t0057g0166 a0001c0004t0066g0115 a0001c0001t0056g0120 a0001c0001t0057g0166 a0001c0004t0066g0115	3	167	0.0180	27	c.48- others(44): Show c.48-37283_48-37282insTTCTTTCTTTCTTTCTTTCTTTCTTTC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20			chrX	TogoVar
AFF2_chrX_148495617_149005663	148983953	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03486.hp1 HG03041.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0057 a0001c0002t0018 a0001c0001t0057 a0001c0002t0018	a0001c0001t0057g0166 a0001c0002t0018g0107 a0001c0001t0057g0166 a0001c0002t0018g0107	2	23	0.0870	27	c.362 others(46): Show c.3623+3178_3623+3179insAAAAAAAAAAAAAAAAAAAAAAAAAA A	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	19/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF3_chr2_99540419_100147590	100108053	G G	GCCCCTAC others(20): Show GCCCCTACAGCATCTCCTCCAGCTTTGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG00639.hp2 others(6): Show HG00438.hp2 HG00609.hp2 HG00639.hp2 HG00738.hp1 HG01358.hp1 HG02293.hp2 HG03834.hp1 HG04115.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0028 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0028 a0001c0003t0001 a0001c0003t0006 a0001c0005t0001 a0001c0005t0003	a0001c0001t0001g0062 a0001c0001t0028g0061 a0001c0003t0001g0065 others(6): Show a0001c0001t0001g0062 a0001c0001t0028g0061 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0006g0063 a0001c0003t0006g0089 a0001c0005t0001g0070 a0001c0005t0003g0071	9	98	0.0918	27	c.-14 others(46): Show c.-144-2497_-144-2471dupACAAAGCTGGAGGAGATGCTGTAGGG G	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	2/24			chr2	TogoVar
AGAP1_chr2_235489043_236136793	235822479	G G	GAGCTGGA others(20): Show GAGCTGGAGAAGCTCAAGAATGAAGAGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02145.hp1 HG02647.hp1 others(2): Show HG01496.hp2 HG02145.hp1 HG02647.hp1 HG03195.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0008 a0001c0002 a0001c0005 a0001c0008	a0001c0002t0001 a0001c0002t0042 a0001c0005t0013 others(2): Show a0001c0002t0001 a0001c0002t0042 a0001c0005t0013 a0001c0008t0001 a0001c0008t0028	a0001c0002t0001g0013 a0001c0002t0042g0067 a0001c0005t0013g0050 others(2): Show a0001c0002t0001g0013 a0001c0002t0042g0067 a0001c0005t0013g0050 a0001c0008t0001g0061 a0001c0008t0028g0029	5	98	0.0510	27	c.105 others(48): Show c.1050+15157_1050+15183dupAAGCTCAAGAATGAAGAGAAGCTG GAG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	236062436	T T	TTTGTTGT others(20): Show TTTGTTGTTGTTGTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0095 a0001c0001t0026g0095	1	70	0.0143	27	c.211 others(48): Show c.2114+13181_2114+13182insGTTGTTGTTGTTGTTGTTGTTGTT GTT	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP9_chr10_47496854_47528638	47503937	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	40	0.0250	27	c.585 others(42): Show c.585+225_585+251dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	7/7			chr10	TogoVar
AGBL1_chr15_86074871_86921156	86827938	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0107 a0002c0005t0006g0107	1	5	0.2000	27	c.315 others(48): Show c.3159-79129_3159-79128insTTTTTTTTTTTTTTTTTTTTTTTT TTT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL2_chr11_47654591_47720369	47678335	A A	ATTTTATT others(20): Show ATTTTATTATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0096 a0003c0003t0002g0096	1	287	0.0035	27	c.201 others(44): Show c.2017-935_2017-934insAAAAAAAAAAAAAAAAAAATAATAAAA	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	13/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47678343	A A	ATTATTAT others(20): Show ATTATTATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0083	1	273	0.0037	27	c.201 others(44): Show c.2017-943_2017-942insAAAAAAAAAAAAAAAAAAAAATAATAA	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	13/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47678343	A A	ATTATTTT others(20): Show ATTATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG01169.hp1 others(9): Show HG00408.hp1 HG00438.hp1 HG01169.hp1 HG01258.hp2 HG02055.hp1 HG02132.hp1 HG02155.hp1 HG02523.hp2 NA18985.hp2 NA19007.hp1 NA19062.hp2 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0068 a0002c0002t0002g0076 a0002c0002t0002g0077 others(9): Show a0002c0002t0002g0068 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0091 a0002c0002t0002g0095 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0104	12	284	0.0423	27	c.201 others(44): Show c.2017-943_2017-942insAAAAAAAAAAAAAAAAAAAAAAAATAA	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	13/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAATATATACATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	8	0.1250	27	c.848 others(42): Show c.848+373_848+374insATATGTATATATTTTTTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	8	0.1250	27	c.848 others(42): Show c.848+373_848+374insATATATATATATATTTTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	8	0.1250	27	c.848 others(42): Show c.848+373_848+374insATATATATATATATATTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGL_chr1_99845361_99929020	99857844	G G	GGGGAGAG others(20): Show GGGGAGAGGGAGACCGTGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02293.hp2 HG02280.hp2 HG02293.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0181 a0003c0006t0001g0190 a0003c0006t0001g0181 a0003c0006t0001g0190	2	316	0.0063	27	c.83- others(42): Show c.83-3657_83-3656insGAGAGGGAGACCGTGGGGAGGGGGAGG	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGMO_chr7_15195317_15567015	15365380	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03471.hp1 HG03688.hp1 others(1): Show HG03098.hp2 HG03471.hp1 HG03688.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0008 a0001c0001t0001 a0001c0003t0008	a0001c0001t0001g0126 a0001c0001t0001g0219 a0001c0003t0008g0096 others(1): Show a0001c0001t0001g0126 a0001c0001t0001g0219 a0001c0003t0008g0096 a0001c0003t0008g0211	4	41	0.0976	27	c.126 others(44): Show c.1263+133_1263+134insTTTTTTTTTTTTTTTTTTTTTTTTTTT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15459599	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02615.hp1 HG00738.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0155 a0001c0001t0005g0037 a0001c0001t0001g0155 a0001c0001t0005g0037	2	45	0.0444	27	c.410 others(46): Show c.410-28492_410-28491insCACACACACACACACACACACACACA C	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGO3_chr1_35926105_36077500	36003709	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0064 a0001c0001t0062g0064	1	147	0.0068	27	c.659 others(42): Show c.659-631_659-630insATATATATATATATATATATATATATA	AGO3	ENSG00000126070.20	transcript	ENST00000373191.9	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGPAT3_chr21_43860223_43992592	43918203	G G	GGTTGTGG others(20): Show GGTTGTGGGTGTTGCGGCGGTTGTGGGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(80): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00423.hp1 HG00597.hp1 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02015.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp2 HG02148.hp2 HG02155.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02818.hp1 HG02886.hp2 HG03195.hp2 HG03239.hp1 HG03490.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG04199.hp2 HG04204.hp1 NA18747.hp2 NA18941.hp1 NA18952.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA19000.hp2 NA19004.hp2 NA19030.hp2 NA19056.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0007 a0001c0001 a0001c0002 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0047 a0001c0001t0053 a0001c0001t0054 a0001c0001t0059 a0001c0001t0065 a0001c0001t0066 a0001c0001t0068 a0001c0001t0069 a0001c0001t0073 a0001c0001t0075 a0001c0001t0076 a0001c0001t0080 a0001c0002t0048 a0002c0007t0001	a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0026 others(80): Show a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0300 a0001c0001t0001g0336 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0023 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0002g0060 a0001c0001t0002g0189 a0001c0001t0002g0199 a0001c0001t0002g0219 a0001c0001t0002g0246 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0008 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0029 a0001c0001t0004g0038 a0001c0001t0004g0044 a0001c0001t0004g0047 a0001c0001t0004g0185 a0001c0001t0004g0188 a0001c0001t0004g0190 a0001c0001t0004g0278 a0001c0001t0004g0311 a0001c0001t0004g0312 a0001c0001t0004g0340 a0001c0001t0006g0045 a0001c0001t0006g0061 a0001c0001t0008g0040 a0001c0001t0009g0030 a0001c0001t0013g0005 a0001c0001t0013g0006 a0001c0001t0021g0062 a0001c0001t0022g0033 a0001c0001t0022g0051 a0001c0001t0022g0055 a0001c0001t0026g0059 a0001c0001t0026g0191 a0001c0001t0027g0299 a0001c0001t0028g0018 a0001c0001t0047g0025 a0001c0001t0053g0321 a0001c0001t0054g0022 a0001c0001t0059g0037 a0001c0001t0065g0020 a0001c0001t0066g0027 a0001c0001t0068g0013 a0001c0001t0069g0301 a0001c0001t0073g0053 a0001c0001t0075g0009 a0001c0001t0076g0279 a0001c0001t0080g0187 a0001c0002t0048g0298 a0002c0007t0001g0052	83	340	0.2441	27	c.-49 others(46): Show c.-49+14198_-49+14224dupCGGCGGTTGTGGGTGTTGTGGGTGTT G	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
AGPAT3_chr21_43860223_43992592	43957462	A A	AGGGTTTC others(20): Show AGGGTTTCCCCTCCACACGGGGGGTCTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02818.hp2 HG01243.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0324 a0001c0001t0032g0325 a0001c0001t0032g0324 a0001c0001t0032g0325	2	339	0.0059	27	c.-48 others(44): Show c.-48-2122_-48-2096dupGTCTCGGGTTTCCCCTCCACACGGGGG	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
AGRN_chr1_1015120_1061116	1047943	C C	CATGCCCC others(20): Show CATGCCCCTGCCCCTCACCCCTTCCTGG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	208	0.0048	27	c.375 others(42): Show c.3751+49_3752-42dupATGCCCCTGCCCCTCACCCCTTCCTGG	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	22/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGXT_chr2_240863824_240885500	240883694	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	251	0.0040	27	c.48 others(38): Show c.4873_*4874insTTTTTTTTTTTTTTTTTTTTTTTTTTT	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding		3195		chr2	TogoVar
AHI1_chr6_135278532_135502740	135482894	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02451.hp2 HG01109.hp1 HG01891.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0202 a0001c0001t0003g0049 a0001c0001t0004g0048 a0001c0001t0002g0202 a0001c0001t0003g0049 a0001c0001t0004g0048	3	43	0.0698	27	c.135 others(44): Show c.135+7728_135+7729insAAAAAAAAAAAAAAAAAAAAAAAAAAA	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	5/28			chr6	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0035 a0001c0001t0017g0035	1	103	0.0097	27	c.-10 others(44): Show c.-10-3204_-10-3203insATATATATATATATATATATATATTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA18960.hp1 HG02273.hp1 NA18960.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0003 a0002c0002 a0004c0003	a0002c0002t0011 a0004c0003t0007 a0002c0002t0011 a0004c0003t0007	a0002c0002t0011g0022 a0004c0003t0007g0234 a0002c0002t0011g0022 a0004c0003t0007g0234	2	104	0.0192	27	c.-10 others(44): Show c.-10-3204_-10-3203insATATATATATATATATATATATTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(20): Show ATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0037 a0004c0003t0037	a0004c0003t0037g0240 a0004c0003t0037g0240	1	103	0.0097	27	c.-10 others(44): Show c.-10-3204_-10-3203insATATATATATATTTTTTTTTTTTTTTT	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(20): Show GGGCGGCGGCGGCGGCGGCGGCGGCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	47	0.0213	27	c.83 others(38): Show c.8395_*8396insGGCGGCGGCGGCGGCGGCGGCGGCGGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		4945		chr5	TogoVar
AIFM3_chr22_20962255_20986358	20985483	C C	CGTGTGAA others(20): Show CGTGTGAATAGGGGTTCTGGAGGCTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01243.hp1 HG01261.hp1 others(18): Show HG00733.hp2 HG01243.hp1 HG01261.hp1 HG01891.hp1 HG02615.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03486.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA19030.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0007 a0001c0001 a0002c0003 a0002c0007	a0001c0001t0001 a0001c0001t0003 a0002c0003t0003 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0003t0003 a0002c0007t0003	a0001c0001t0001g0140 a0001c0001t0001g0162 a0001c0001t0003g0004 others(13): Show a0001c0001t0001g0140 a0001c0001t0001g0162 a0001c0001t0003g0004 a0001c0001t0003g0114 a0001c0001t0003g0121 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0260 a0002c0003t0003g0021 a0002c0003t0003g0036 a0002c0003t0003g0037 a0002c0003t0003g0052 a0002c0003t0003g0123 a0002c0003t0003g0127 a0002c0003t0003g0203 a0002c0007t0003g0073	21	454	0.0463	27	c.44 others(38): Show c.4452_*4453insGTGTGAATAGGGGTTCTGGAGGCTGGG	AIFM3	ENSG00000183773.16	transcript	ENST00000440238.4	protein_coding		4126		chr22	TogoVar
AIM2_chr1_159057484_159081766	159071922	A A	ATTATTGT others(20): Show ATTATTGTTTATTATTTATTATTGTTAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	392	0.0026	27	c.262 others(44): Show c.262+1315_262+1316insATAACAATAATAAATAATAAACAATAA	AIM2	ENSG00000163568.16	transcript	ENST00000368130.9	protein_coding	2/5			chr1	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAATATAC others(20): Show AAATATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0325 a0001c0001t0002g0325	1	47	0.0213	27	c.135 others(42): Show c.135+477_135+478insATATACATATATATATATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AK4_chr1_65143203_65237145	65172104	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0016 a0001c0001t0026g0016	1	298	0.0034	27	c.146 others(46): Show c.146-18606_146-18605insATATATATATATATATATATATATAT A	AK4	ENSG00000162433.15	transcript	ENST00000327299.8	protein_coding	1/4			chr1	TogoVar
AK5_chr1_77277019_77564966	77368244	T T	TTATATAT others(20): Show TTATATATATATATATATGTTATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0101 a0002c0002t0011g0101	1	247	0.0040	27	c.891 others(46): Show c.891+27676_891+27677insTATATATATATATATATGTTATATAT A	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13			chr1	TogoVar
AK7_chr14_96387128_96494427	96418322	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01168.hp2 HG01358.hp1 others(6): Show HG00735.hp2 HG01168.hp2 HG01358.hp1 HG01361.hp2 HG02257.hp2 HG02602.hp1 HG02886.hp1 HG04228.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0087 a0001c0001t0001g0131 a0001c0001t0001g0132 others(6): Show a0001c0001t0001g0087 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0160 a0001c0001t0001g0299 a0001c0001t0002g0135 a0001c0001t0007g0287	9	39	0.2308	27	c.499 others(44): Show c.499-2485_499-2484insAAAAAAAAAAAAAAAAAAAAAAAAAAA	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr14	TogoVar

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