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
ACTRT3_chr3_169761921_169774561	169770598	C C	CATAAATA others(36): Show CATAAATATAAATATATAAAAATTTATATTTATATATCATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	354	0.0028	43	c.-10 others(54): Show c.-1079_-1078insATTTATGATATATAAATATAAATTTTTATATATT TATATTTAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1038		chr3	TogoVar
ADA2_chr22_17173790_17224435	17184994	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0139 a0001c0006t0002g0139	1	406	0.0025	43	c.108 others(62): Show c.1082-2234_1082-2233insATATATATATATATATATATATATAT ATATATATATATATATA	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	299	0.0033	43	c.973 others(58): Show c.973-422_973-421insATATATATATATATATATATATATATATAT ATTTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAATAT others(36): Show AAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0167 a0002c0006t0001g0167	1	65	0.0154	43	c.114 others(62): Show c.1145+7304_1145+7305insATATATATATATATATATATATATAT ATATATATATATATTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126121113	A A	ATATATAG others(36): Show ATATATAGTATATATAGTATATATAGTATATATAGTATATATAG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19063.hp2 NA19065.hp2 others(1): Show NA18612.hp1 NA19063.hp2 NA19065.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0002c0005 a0001c0003 a0002c0001 a0002c0005	a0001c0003t0005 a0002c0001t0001 a0002c0001t0018 others(1): Show a0001c0003t0005 a0002c0001t0001 a0002c0001t0018 a0002c0005t0003	a0001c0003t0005g0230 a0002c0001t0001g0158 a0002c0001t0018g0162 others(1): Show a0001c0003t0005g0230 a0002c0001t0001g0158 a0002c0001t0018g0162 a0002c0005t0003g0042	4	134	0.0299	43	c.417 others(60): Show c.417-2890_417-2889insCTATATATACTATATATACTATATATAC TATATATACTATATA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	5/22			chr10	TogoVar
ADAM17_chr2_9483486_9560830	9519544	G G	GCTGAATT others(36): Show GCTGAATTGTGCCACCCCACAATTCAAATGTTGAAGTCCTAACC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0188 a0001c0002t0010g0188	1	232	0.0043	43	c.958 others(60): Show c.958-1340_958-1298dupGGTTAGGACTTCAACATTTGAATTGTGG GGTGGCACAATTCAG	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	8/18			chr2	TogoVar
ADAM17_chr2_9483486_9560830	9520964	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	94	0.0106	43	c.957 others(58): Show c.957+238_957+239insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	8/18			chr2	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0220 a0002c0002t0020g0220	1	77	0.0130	43	c.324 others(62): Show c.324-36161_324-36160insAAAAAAAAAAAAAAAAAAATATATAT ATATATATATATATATA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAMTS12_chr5_33518535_33896990	33778536	A A	ATAAGTTT others(36): Show ATAAGTTTTCTCCCTAAGTTGTCTTCTGGTAGTTTTAGTTTTAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG01891.hp2 HG02280.hp2	a0003 a0015 a0003 a0015	a0003c0005 a0015c0048 a0003c0005 a0015c0048	a0003c0005t0006 a0015c0048t0008 a0003c0005t0006 a0015c0048t0008	a0003c0005t0006g0086 a0015c0048t0008g0118 a0003c0005t0006g0086 a0015c0048t0008g0118	2	222	0.0090	43	c.490 others(62): Show c.490-26989_490-26988insCTAAAACTAAAACTACCAGAAGACAA CTTAGGGAGAAAACTTA	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS13_chr9_133417367_133464386	133460459	A A	AGGGCGGG others(36): Show AGGGCGGGGGGGCGGCGGGGGCGGCGGGGGCGGGGGGGCGGCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01074.hp2 HG01106.hp1 others(13): Show HG01069.hp1 HG01074.hp2 HG01106.hp1 HG01175.hp2 HG01516.hp2 HG01517.hp1 HG02040.hp1 HG03669.hp1 NA18940.hp2 NA18944.hp1 NA18964.hp1 NA18971.hp1 NA18995.hp1 NA19002.hp2 NA19003.hp1 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0039 a0002c0002 a0002c0039	a0002c0002t0001 a0002c0039t0001 a0002c0002t0001 a0002c0039t0001	a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0014 others(7): Show a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0037 a0002c0002t0001g0080 a0002c0002t0001g0084 a0002c0002t0001g0103 a0002c0002t0001g0150 a0002c0039t0001g0149	16	310	0.0516	43	c.12 others(54): Show c.1279_*1280insGGGCGGGGGGGCGGCGGGGGCGGCGGGGGCGGGG GGGCGGCGG	ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding		1074		chr9	TogoVar
ADAMTS13_chr9_133417367_133464386	133460463	C C	CGGGGGGG others(36): Show CGGGGGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCGGGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	357	0.0028	43	c.12 others(54): Show c.1283_*1284insGGGGGGGCGGGGGGGCGGCGGGGGCGGGGGGGCG GCGGGGGCG	ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding		1078		chr9	TogoVar
ADAMTS20_chr12_43348866_43557203	43460988	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	44	0.0227	43	c.161 others(62): Show c.1614+1906_1614+1907insAAAAAAAAAAATATATATATATATAT ATATATATATATATATA	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	11/38			chr12	TogoVar
ADAMTSL1_chr9_18469153_18915950	18688689	A A	AAAAAAAA others(36): Show AAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00741.hp1 HG00621.hp1 HG00741.hp1	a0001 a0003 a0001 a0003	a0001c0024 a0003c0011 a0001c0024 a0003c0011	a0001c0024t0001 a0003c0011t0001 a0001c0024t0001 a0003c0011t0001	a0001c0024t0001g0137 a0003c0011t0001g0114 a0001c0024t0001g0137 a0003c0011t0001g0114	2	34	0.0588	43	c.157 others(62): Show c.1574+3890_1574+3891insAAAAAAATATATATATATATATATAT ATATATATATATATATA	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAP1_chr7_892900_959680	943599	G G	GGAGGAGG others(36): Show GGAGGAGGAAGAGAGGAGGAGGAAGAGAGGATGAGGAAGGGAGA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	12	0.0833	43	c.83- others(58): Show c.83-8095_83-8094insTCTCCCTTCCTCATCCTCTCTTCCTCCTCC TCTCTTCCTCCTC	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	1/10			chr7	TogoVar
ADCY2_chr5_7391138_7835081	7673269	A A	AAAAAAAA others(36): Show AAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0004 a0001c0025t0004	a0001c0025t0004g0110 a0001c0025t0004g0110	1	7	0.1429	43	c.721 others(62): Show c.721-17421_721-17420insAAAAAAAAATATATATATATATATAT ATATATATATATATATA	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADD3_chr10_110002984_110140565	110065539	C C	CTTTTTTT others(36): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	63	0.0159	43	c.-29 others(62): Show c.-29-35068_-29-35067insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	ADD3	ENSG00000148700.15	transcript	ENST00000356080.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111297	C C	CACCACAG others(36): Show CACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0006 a0001c0004t0004g0006	2	235	0.0085	43	c.401 others(60): Show c.401+8455_401+8456insACCACAGGCACCTCCCTCCTAATCCCAC CAGACCACCTGCCCA	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111675	C C	CACCACAG others(36): Show CACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0017 a0001c0002t0008g0017	1	180	0.0056	43	c.401 others(60): Show c.401+8833_401+8834insACCACAGGCACCTCCCTCCTAATCCCAC CAGACAACCTGCCCA	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111675	C C	CACCACAG others(36): Show CACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	180	0.0056	43	c.401 others(60): Show c.401+8833_401+8834insACCACAGGCACCTCCCTCCTAATCCCTC CAGACCACCTGCCCA	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111675	C C	CACCACGG others(36): Show CACCACGGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0316 a0001c0001t0029g0316	1	180	0.0056	43	c.401 others(60): Show c.401+8833_401+8834insACCACGGACACCTCCCTCCTAATCCCAC CAGACCACCTGCCCA	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111675	C C	CACCACGG others(36): Show CACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0268 a0001c0001t0003g0268	1	180	0.0056	43	c.401 others(60): Show c.401+8833_401+8834insACCACGGGCACCTCCCTCCTAATCCCAC CAGACCACCTGCCCA	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111675	C C	CGCCGTGA others(36): Show CGCCGTGAGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0007 a0001c0003t0004g0007	2	181	0.0110	43	c.401 others(60): Show c.401+8833_401+8834insGCCGTGAGCACCTCCCTCCTAATCCCTC CAGACCACCTGCCCA	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ADGRB3_chr6_68630282_69394506	69031550	T T	TTTCTTTC others(36): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTATTTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0025 a0002c0005t0002g0026 a0002c0005t0002g0025 a0002c0005t0002g0026	2	59	0.0339	43	c.210 others(64): Show c.2107+13053_2107+13054insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTATTTCTT	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	13/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRB3_chr6_68630282_69394506	69031550	T T	TTTCTTTC others(36): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01257.hp1 HG02074.hp1 others(5): Show HG01256.hp1 HG01257.hp1 HG02074.hp1 HG02293.hp1 HG02622.hp2 HG03654.hp2 NA18747.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002	a0001c0001t0002g0116 a0001c0002t0001g0001 a0001c0002t0001g0014 others(5): Show a0001c0001t0002g0116 a0001c0002t0001g0001 a0001c0002t0001g0014 a0001c0002t0002g0117 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0090 a0001c0003t0002g0120	8	65	0.1231	43	c.210 others(64): Show c.2107+13053_2107+13054insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	13/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRE3_chr19_14614117_14679844	14617340	C C	CTCTCTCT others(36): Show CTCTCTCTTTCTTTCTCTTCTTTCTTTCTTTCTTTCTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0194 a0002c0005t0002g0194	1	263	0.0038	43	c.20 others(54): Show c.2092_*2093insAAGAAAGAGAAAGAAAGAAAGAAAGAAGAGAAAG AAAGAGAGA	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding		1776		chr19	TogoVar
ADGRE5_chr19_14376444_14413723	14389147	G G	GAGAGGGA others(36): Show GAGAGGGAGAGGAAGGGAAGAGGGAGAGGGGGAGAGGAAGGGGA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	200	0.0050	43	c.190 others(58): Show c.190+345_190+346insAAGAGGGAGAGGGGGAGAGGAAGGGGAAGA GGGAGAGGAAGGG	ADGRE5	ENSG00000123146.20	transcript	ENST00000242786.6	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
ADGRE5_chr19_14376444_14413723	14389147	G G	GAGAGGGA others(36): Show GAGAGGGAGAGGAAGGGGAGAGGGAGAGGGGGAGAGGAAGGGGA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	200	0.0050	43	c.190 others(58): Show c.190+347_190+348insGAGGGAGAGGGGGAGAGGAAGGGGAAGAGG GAGAGGAAGGGGA	ADGRE5	ENSG00000123146.20	transcript	ENST00000242786.6	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
ADGRE5_chr19_14376444_14413723	14389151	G G	GGGAGAGG others(36): Show GGGAGAGGAAGGGGAAGAGGGAGAGGGGGAGAGGAAGGGGAAGA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	372	0.0027	43	c.190 others(58): Show c.190+336_190+378dupAGAGGAAGGGGAAGAGGGAGAGGGGGAGAG GAAGGGGAAGAGG	ADGRE5	ENSG00000123146.20	transcript	ENST00000242786.6	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
ADPRHL1_chr13_113394611_113458488	113436080	A A	AGTGAACA others(36): Show AGTGAACATAGGTGTACCCCCGGGACCCGGCACCCAGGCGCAGG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0017 a0017	a0017c0028 a0017c0028	a0017c0028t0066 a0017c0028t0066	a0017c0028t0066g0018 a0017c0028t0066g0018	1	92	0.0109	43	c.380 others(60): Show c.380-2214_380-2213insCCTGCGCCTGGGTGCCGGGTCCCGGGGG TACACCTATGTTCAC	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7			chr13	TogoVar
AEBP2_chr12_19434492_19527227	19524065	C C	CCCTCCCT others(36): Show CCCTCCCTCCCTCCCTCGTTCCGTCTTTCTCTCTCTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01071.hp2 HG01167.hp1 others(27): Show HG00735.hp1 HG01071.hp2 HG01167.hp1 HG01243.hp1 HG01433.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02148.hp2 HG02257.hp2 HG02559.hp2 HG02572.hp1 HG02647.hp1 HG02717.hp2 HG02965.hp2 HG02970.hp2 HG03927.hp1 NA18947.hp2 NA18949.hp2 NA18954.hp1 NA18966.hp1 NA18986.hp2 NA18989.hp2 NA18998.hp2 NA19030.hp2 NA19056.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0022 a0001c0001t0005 a0001c0001t0022	a0001c0001t0005g0132 a0001c0001t0005g0133 a0001c0001t0005g0134 others(27): Show a0001c0001t0005g0132 a0001c0001t0005g0133 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0001t0005g0136 a0001c0001t0005g0137 a0001c0001t0005g0138 a0001c0001t0005g0139 a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0005g0142 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0001t0005g0151 a0001c0001t0005g0152 a0001c0001t0005g0153 a0001c0001t0005g0154 a0001c0001t0005g0155 a0001c0001t0005g0156 a0001c0001t0005g0157 a0001c0001t0005g0158 a0001c0001t0005g0238 a0001c0001t0005g0259 a0001c0001t0022g0131 a0001c0001t0022g0239	30	402	0.0746	43	c.59 others(54): Show c.5948_*5949insCCTCCCTCCCTCCCTCGTTCCGTCTTTCTCTCTC TCCTTCCTT	AEBP2	ENSG00000139154.16	transcript	ENST00000266508.14	protein_coding		1839		chr12	TogoVar
AFDN_chr6_167821911_167977023	167976423	A A	AAGGCAGT others(36): Show AAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG04199.hp2 HG02300.hp2 HG04199.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0210 a0001c0007t0007g0212 a0001c0007t0007g0210 a0001c0007t0007g0212	2	317	0.0063	43	c.64 others(54): Show c.6488_*6489insAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGG GGAAGGAGG	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4401		chr6	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0012	1	8	0.1250	43	c.848 others(58): Show c.848+373_848+374insATATATATATATATATATTTTTTTTTTTTT TTTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0099 a0002c0002t0002g0099	1	8	0.1250	43	c.848 others(58): Show c.848+373_848+374insATATATATATATATATATATTTTTTTTTTT TTTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0073 a0002c0002t0002g0073	1	8	0.1250	43	c.848 others(58): Show c.848+373_848+374insATATATATATATATATATATATATTTTTTT TTTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL3_chr7_134981508_135140778	135026244	A A	ATTATTTT others(36): Show ATTATTTTATTTTATTTTTTTTATTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03834.hp1 HG02922.hp1 HG03834.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0002 a0001c0008 a0002c0002	a0001c0008t0003 a0002c0002t0002 a0001c0008t0003 a0002c0002t0002	a0001c0008t0003g0215 a0002c0002t0002g0035 a0001c0008t0003g0215 a0002c0002t0002g0035	2	143	0.0140	43	c.419 others(60): Show c.419-6583_419-6582insTTTTATTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTT	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGMO_chr7_15195317_15567015	15529742	A A	ATATACAA others(36): Show ATATACAATATATATTCCATATATACTATATATACTATAGACTC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	1	233	0.0043	43	c.409 others(62): Show c.409+15029_409+15030insGAGTCTATAGTATATATAGTATATAT GGAATATATATTGTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AHCTF1_chr1_246834098_246936948	246886023	A A	AAAACAAA others(36): Show AAAACAAACAAAAGTAAGTTTAAACAAAAAAAGTGCAGTGGCTC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0280 a0003c0003t0001g0280	1	374	0.0027	43	c.247 others(60): Show c.2473-386_2473-344dupGAGCCACTGCACTTTTTTTGTTTAAACT TACTTTTGTTTGTTT	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	20/35			chr1	TogoVar
AHCYL2_chr7_129220030_129435211	129399141	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	76	0.0132	43	c.824 others(60): Show c.824-1126_824-1125insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0009 a0004c0003t0009	a0004c0003t0009g0243 a0004c0003t0009g0243	1	103	0.0097	43	c.-10 others(60): Show c.-10-3204_-10-3203insATATATATATATATATATATATATATAT ATATATATTTTTTTT	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(36): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0025 a0001c0008t0025	a0001c0008t0025g0159 a0001c0008t0025g0159	1	103	0.0097	43	c.-10 others(60): Show c.-10-3204_-10-3203insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AK3_chr9_4704556_4746202	4735426	A A	AATATATA others(36): Show AATATATATATACATATATAAATATATACATAGTATATGTGTGT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02451.hp1 HG02647.hp1 others(2): Show HG01981.hp2 HG02451.hp1 HG02647.hp1 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0027 a0001c0001t0060 others(1): Show a0001c0001t0003 a0001c0001t0027 a0001c0001t0060 a0001c0001t0075	a0001c0001t0003g0116 a0001c0001t0027g0093 a0001c0001t0027g0221 others(2): Show a0001c0001t0003g0116 a0001c0001t0027g0093 a0001c0001t0027g0221 a0001c0001t0060g0094 a0001c0001t0075g0421	5	451	0.0111	43	c.151 others(60): Show c.151+5510_151+5511insACACACATATACTATGTATATATTTATA TATGTATATATATAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AKAP6_chr14_32324298_32842684	32811255	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0004 a0004c0018t0004	a0004c0018t0004g0065 a0004c0018t0004g0065	1	67	0.0149	43	c.358 others(64): Show c.3589-10146_3589-10145insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKIRIN2_chr6_87669860_87707233	87674643	T T	TATATTTA others(36): Show TATATTTATAAATATATATATATATAAATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0051 a0001c0002t0006g0051	1	389	0.0026	43	c.95 others(52): Show c.953_*954insTATATATATATATATATTTATATATATATATATTTA TAAATAT	AKIRIN2	ENSG00000135334.9	transcript	ENST00000257787.6	protein_coding		216		chr6	TogoVar
AKT1_chr14_104764349_104800748	104779614	G G	GGCCCAGA others(36): Show GGCCCAGAGACCCCCCGCCTAGCCAGCCTCGGCCTCGGGACTCA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	149	0.0067	43	c.175 others(58): Show c.175+473_175+474insTGAGTCCCGAGGCCGAGGCTGGCTAGGCGG GGGGTCTCTGGGC	AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding	4/14			chr14	TogoVar
ALLC_chr2_3653200_3707671	3690374	T T	CCCCCTCC others(36): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	240	0.0042	43	c.512 others(60): Show c.512-5386_512-5344dupCCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11			chr2	TogoVar
ALLC_chr2_3653200_3707671	3690374	T T	TCCCCTCC others(36): Show TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG04199.hp2 HG03490.hp1 HG03492.hp1 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	3	242	0.0124	43	c.512 others(60): Show c.512-5334_512-5333insCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCTCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALOXE3_chr17_8090900_8123514	8107961	G G	GAAAGAAA others(36): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0365 a0001c0001t0003g0365	1	392	0.0026	43	c.168 others(60): Show c.1684+506_1684+507insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AAAAATAT others(36): Show AAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	67	0.0149	43	c.-12 others(62): Show c.-121+8132_-121+8133insATATATATATATATATATATATATAT ATATATATATATATTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMPH_chr7_38378704_38636373	38441803	T T	TATATATC others(36): Show TATATATCATATATCTATCATATATATCATATATCATATATATC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01978.hp2 others(11): Show HG01515.hp2 HG01517.hp2 HG01978.hp2 HG02735.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03486.hp2 HG03540.hp2 HG03831.hp2 NA18957.hp2 NA18974.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0016	a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 a0001c0016t0004	a0001c0001t0001g0034 a0001c0001t0001g0055 a0001c0001t0001g0175 others(11): Show a0001c0001t0001g0034 a0001c0001t0001g0055 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0002t0002g0280 a0001c0003t0002g0005 a0001c0003t0002g0152 a0001c0003t0002g0153 a0001c0003t0002g0272 a0001c0003t0002g0273 a0001c0003t0002g0274 a0001c0016t0004g0219	14	282	0.0496	43	c.101 others(62): Show c.1018-5416_1018-5415insGATATATATGATATATGATATATATG ATAGATATATGATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38610332	A A	AGAGAGAG others(36): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0032 a0001c0001t0006g0032	1	279	0.0036	43	c.69+ others(60): Show c.69+20950_69+20951insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTC	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar

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