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
AOAH_chr7_36507941_36729494	36517214	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTCTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00642.hp1 HG00735.hp2 others(4): Show HG00423.hp2 HG00642.hp1 HG00735.hp2 HG02135.hp2 NA18949.hp2 NA19076.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0001c0001t0001 a0002c0002t0001 a0002c0004t0001	a0001c0001t0001g0022 a0001c0001t0001g0148 a0002c0002t0001g0173 others(4): Show a0001c0001t0001g0022 a0001c0001t0001g0148 a0002c0002t0001g0173 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0208 a0002c0004t0001g0221	7	122	0.0574	34	c.160 others(53): Show c.1600-3835_1600-3834insAAGAGAAAAAGAAAGAAAGAAAGAAA GAAAGAAA	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	20/20			chr7	TogoVar
AOC2_chr17_42839580_42855707	42848524	A A	AATATATA others(27): Show AATATATATATACATATATATATATATATATACAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19240.hp2 HG06807.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	2	250	0.0080	34	c.158 others(51): Show c.1589-551_1589-550insCATATATATATATATATATACATATATA TATATA	AOC2	ENSG00000131480.9	transcript	ENST00000253799.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
AOC3_chr17_42846199_42863124	42848524	A A	AATATATA others(27): Show AATATATATATACATATATATATATATATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 NA19240.hp2 HG06807.hp1 NA19240.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0011 a0006c0008t0002g0011	2	239	0.0084	34	c.-28 others(45): Show c.-2820_-2819insATATATATATACATATATATATATATATATACAT	AOC3	ENSG00000131471.7	transcript	ENST00000308423.7	protein_coding		2674		chr17	TogoVar
AOPEP_chr9_94721699_95092159	94728239	G G	GCGCGCGC others(27): Show GCGCGCGCGCGCGCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	44	0.0227	34	c.-13 others(53): Show c.-136+1489_-136+1490insGCGCGCGCGCGCGCGCACACACACAC ACACACAC	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
AOX1_chr2_200581014_200676495	200657165	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA20300.hp2 HG03130.hp2 NA20300.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0006 a0003c0003t0004 a0003c0003t0006	a0003c0003t0004g0207 a0003c0003t0006g0328 a0003c0003t0004g0207 a0003c0003t0006g0328	2	243	0.0082	34	c.317 others(51): Show c.3171+229_3171+230insAAAAAAAAAAAAAAAATATATATATATA TATATA	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AP1M2_chr19_10567671_10592312	10585287	G G	GAAAGAAA others(27): Show GAAAGAAAGAAGGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0040 a0001c0002t0004g0040	1	391	0.0026	34	c.43- others(49): Show c.43-1218_43-1217insTTCTTTCTTTCTTTCTTTCTTTCCTTCTTT CTTT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	1/11			chr19	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	111	0.0090	34	c.787 others(53): Show c.787-12109_787-12108insAAAAAAAAAAAATATATATATATATA TATATATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP4S1_chr14_31020649_31101450	31096670	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0227 a0001c0001t0041g0227	1	332	0.0030	34	c.36 others(45): Show c.3635_*3636insATATATATATATATATATATATATATATATATAT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding		221		chr14	TogoVar
AP4S1_chr14_31020649_31101450	31096676	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02109.hp1 HG02155.hp1 HG00558.hp1 HG02109.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0047 a0001c0001t0048 a0001c0001t0011 a0001c0001t0047 a0001c0001t0048	a0001c0001t0011g0088 a0001c0001t0047g0264 a0001c0001t0048g0129 a0001c0001t0011g0088 a0001c0001t0047g0264 a0001c0001t0048g0129	3	250	0.0120	34	c.36 others(45): Show c.3641_*3642insATATATATATATATATATATATATATATATATAT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding		227		chr14	TogoVar
AP4S1_chr14_31020649_31101450	31096688	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0205 a0001c0001t0018g0205	1	344	0.0029	34	c.36 others(45): Show c.3653_*3654insATATATATATATATATATATATATATATATATAA	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding		239		chr14	TogoVar
APAF1_chr12_98640290_98740433	98665255	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA19009.hp2 NA19065.hp1 HG01192.hp2 NA19009.hp2 NA19065.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0008 a0001c0001 a0009c0008	a0001c0001t0003 a0001c0001t0026 a0009c0008t0011 a0001c0001t0003 a0001c0001t0026 a0009c0008t0011	a0001c0001t0003g0129 a0001c0001t0026g0158 a0009c0008t0011g0143 a0001c0001t0003g0129 a0001c0001t0026g0158 a0009c0008t0011g0143	3	187	0.0160	34	c.956 others(49): Show c.956-274_956-273insATATATATATATATATATATATATATATAT ATAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APBA1_chr9_69422532_69677371	69658284	C C	CTTTTTCT others(27): Show CTTTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18939.hp1 NA18612.hp1 NA18939.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0016 a0001c0001t0001 a0002c0002t0016	a0001c0001t0001g0130 a0002c0002t0016g0181 a0001c0001t0001g0130 a0002c0002t0016g0181	2	181	0.0110	34	c.-70 others(53): Show c.-70+13868_-70+13869insAAGAGAGAGAAAGAAAGAAAGAAAGA AAGAAAAA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBB1_chr11_6390125_6424094	6421867	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	377	0.0027	34	c.-28 others(45): Show c.-2898_-2897insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	APBB1	ENSG00000166313.20	transcript	ENST00000609360.6	protein_coding		2774		chr11	TogoVar
APBB2_chr4_40805027_41219542	40946254	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0114 a0001c0004t0009g0114	1	145	0.0069	34	c.836 others(51): Show c.836-1182_836-1181insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40964753	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0009 a0001c0002t0011g0009	1	7	0.1429	34	c.836 others(53): Show c.836-19681_836-19680insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APLF_chr2_68462585_68585162	68517802	A A	ACAGTAAT others(27): Show ACAGTAATATATCACTAATATGTGTTAATATATAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03195.hp1 HG03486.hp2 others(1): Show HG03098.hp1 HG03195.hp1 HG03486.hp2 NA19240.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0006 a0006c0007t0017 a0006c0007t0006 a0006c0007t0017	a0006c0007t0006g0002 a0006c0007t0006g0033 a0006c0007t0017g0023 a0006c0007t0006g0002 a0006c0007t0006g0033 a0006c0007t0017g0023	4	173	0.0231	34	c.622 others(51): Show c.622+4196_622+4229dupATATATCACTAATATGTGTTAATATATA GCAGTA	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
APOA4_chr11_116815700_116828304	116818526	T T	TTATATAT others(27): Show TTATATATGAATATATATATGAATATATATGAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 NA18522.hp1 HG02896.hp1 HG02897.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0010 a0001c0001t0004g0038 a0001c0001t0001g0010 a0001c0001t0004g0038	3	320	0.0094	34	c.23 others(45): Show c.2340_*2341insTATTCATATATATTCATATATATATTCATATATA	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2173		chr11	TogoVar
APOBEC1_chr12_7644400_7670908	7660363	G G	GGAAAGAA others(27): Show GGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0117 a0002c0001t0001g0117	1	422	0.0024	34	c.16+ others(49): Show c.16+5493_16+5494insTTTCTTTCTTTCTTTCTTTCTTTTTCTTTC TTTC	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7660375	G G	GGAAGGAA others(27): Show GGAAGGAAAGAAAGAAAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01496.hp1 HG01074.hp2 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0040 a0001c0002t0001g0041	2	99	0.0202	34	c.16+ others(49): Show c.16+5481_16+5482insTTTCTTTCTTTCTTTCTTTTTCTTTCTTTC CTTC	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7660375	G G	GGAAGGAA others(27): Show GGAAGGAAGGAAAGAAAGAAAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp2 HG00642.hp2 others(29): Show HG00597.hp1 HG00621.hp2 HG00642.hp2 HG00738.hp2 HG01978.hp1 HG02056.hp1 HG02257.hp1 HG02602.hp2 HG02698.hp2 HG03195.hp1 HG03540.hp2 HG03704.hp1 HG03831.hp2 HG04228.hp1 HG06807.hp1 NA18949.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18959.hp2 NA18962.hp2 NA18973.hp1 NA18984.hp2 NA19000.hp2 NA19007.hp2 NA19068.hp1 NA19070.hp2 NA19083.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0002c0001t0001	a0001c0002t0001g0003 a0001c0002t0001g0027 a0001c0002t0001g0030 others(24): Show a0001c0002t0001g0003 a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0093 a0001c0002t0001g0120 a0001c0002t0001g0125 a0001c0002t0001g0131 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0158 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0236 a0001c0002t0001g0239 a0001c0002t0001g0368 a0001c0002t0002g0188 a0001c0002t0002g0264 a0001c0003t0001g0286 a0002c0001t0001g0243	32	129	0.2481	34	c.16+ others(49): Show c.16+5481_16+5482insTTTCTTTCTTTCTTTTTCTTTCTTTCCTTC CTTC	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7660375	G G	GGAAGGAA others(27): Show GGAAGGAAGGAAGGAAAGAAAGAAAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0157 a0001c0003t0001g0157	1	98	0.0102	34	c.16+ others(49): Show c.16+5481_16+5482insTTTCTTTCTTTTTCTTTCTTTCCTTCCTTC CTTC	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7660410	A A	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0044 a0001c0003t0001g0044	1	329	0.0030	34	c.16+ others(49): Show c.16+5446_16+5447insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7660412	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0330 a0001c0002t0001g0330	1	364	0.0027	34	c.16+ others(49): Show c.16+5444_16+5445insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC3B_chr22_38977347_38997779	38988681	T T	TTCTCTCT others(27): Show TTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	326	0.0031	34	c.570 others(49): Show c.570-771_570-770insCTTTCTCTCTTTCTCTCTTTCTCTCTTTCT CTCT	APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
APOBEC3B_chr22_38977347_38997779	38988683	C C	CTCTCTTT others(27): Show CTCTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0188 a0002c0005t0001g0188	1	82	0.0122	34	c.570 others(49): Show c.570-771_570-770insCTTTCTCTCTCTCTCTCTCTCTCTCTTTCT TTCT	APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
APOBEC3B_chr22_38977347_38997779	38988683	C C	CTCTCTTT others(27): Show CTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	82	0.0122	34	c.570 others(49): Show c.570-771_570-770insCTTTCTCTCTTTCTCTCTTTCTTTCTTTCT TTCT	APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
APOBEC3B_chr22_38977347_38997779	38988683	C C	CTCTCTTT others(27): Show CTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00735.hp1 others(4): Show HG00408.hp1 HG00597.hp1 HG00735.hp1 HG01257.hp1 HG02698.hp2 NA18942.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0095 a0001c0001t0001g0096 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0121 a0001c0001t0001g0156	7	88	0.0795	34	c.570 others(49): Show c.570-771_570-770insCTTTCTCTCTTTCTTTCTTTCTTTCTTTCT TTCT	APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
APOBEC3B_chr22_38977347_38997779	38988683	C C	CTCTCTTT others(27): Show CTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA20300.hp2 NA18983.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0180 a0002c0002t0001g0182 a0002c0002t0001g0180 a0002c0002t0001g0182	2	83	0.0241	34	c.570 others(49): Show c.570-771_570-770insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
APOF_chr12_56355568_56367857	56363237	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0012 a0006c0008t0001g0012	1	259	0.0039	34	c.-49 others(43): Show c.-493_-492insTTTTATATATATATATATATATATATATATATAT	APOF	ENSG00000175336.10	transcript	ENST00000398189.4	protein_coding		381		chr12	TogoVar
APOL3_chr22_36135329_36165755	36145972	G G	GTCTCCCT others(27): Show GTCTCCCTGTCTCTCTTTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18956.hp1 HG00438.hp1 NA18956.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0113 a0001c0002t0001g0125 a0001c0002t0001g0113 a0001c0002t0001g0125	2	221	0.0090	34	c.11- others(47): Show c.11-374_11-373insGAGAGAGAGAGAGAGAGAAAGAGAGACAGGGA GA	APOL3	ENSG00000128284.20	transcript	ENST00000424878.4	protein_coding	2/3			chr22	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01106.hp2 HG02698.hp1 others(4): Show HG00733.hp1 HG01106.hp2 HG02698.hp1 NA18952.hp1 NA18960.hp2 NA18972.hp1 NA18979.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0013 a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0013	7	40	0.1750	34	c.-63 others(43): Show c.-637_-636insAAAAAAAAAAAAAAAAAAATATATATATATATAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02132.hp2 HG02165.hp1 others(8): Show HG02040.hp1 HG02132.hp2 HG02165.hp1 HG02698.hp2 HG03704.hp1 NA18942.hp1 NA18965.hp2 NA18991.hp2 NA18997.hp1 NA19002.hp1 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0109 a0002c0002t0001g0001 a0002c0002t0001g0026 others(3): Show a0001c0001t0001g0109 a0002c0002t0001g0001 a0002c0002t0001g0026 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0120	11	44	0.2500	34	c.-63 others(43): Show c.-637_-636insAAAAAAAAAAAAAAAAATATATATATATATATAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG02027.hp2 NA18962.hp1 others(3): Show HG01168.hp1 HG02027.hp2 NA18962.hp1 NA19004.hp1 NA19064.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0031 a0002c0002t0001g0001 a0002c0002t0001g0029 others(1): Show a0001c0001t0001g0031 a0002c0002t0001g0001 a0002c0002t0001g0029 a0002c0002t0001g0111	6	39	0.1538	34	c.-63 others(43): Show c.-637_-636insAAAAAAAAAAAAAAATATATATATATATATATAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 NA19043.hp1 HG02735.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0009 a0002c0002t0001g0028 a0001c0001t0001g0009 a0002c0002t0001g0028	2	35	0.0571	34	c.-63 others(43): Show c.-637_-636insAAAAAAAAAAAAATATATATATATATATATATAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0097 a0002c0002t0001g0097	1	34	0.0294	34	c.-63 others(43): Show c.-637_-636insAAAAAAAAAAATATATATATATATATATATATAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOOL_chrX_84998877_85098315	85076995	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0220 a0001c0001t0010g0220	1	170	0.0059	34	c.718 others(51): Show c.718+2626_718+2627insTATATATATATATATATATATATATATA TATATA	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
AQP11_chr11_77584953_77615356	77596537	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA18965.hp1 HG03688.hp2 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0073 a0001c0001t0001g0005 a0001c0001t0001g0073	2	190	0.0105	34	c.619 others(51): Show c.619+5952_619+5953insATATATATATATATATATATATATATAT ATATAT	AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
AQP6_chr12_49967947_49982139	49972146	G G	GGGGAAAG others(27): Show GGGGAAAGCCTAGGGCATGGGTGACCATAGGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG02622.hp2 others(8): Show HG01884.hp2 HG02572.hp1 HG02622.hp2 HG02717.hp1 HG02886.hp1 HG02896.hp2 HG02970.hp2 HG03098.hp1 HG03486.hp1 HG03516.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0004 a0001c0001t0003g0002 a0001c0001t0007g0002 a0001c0001t0001g0004 a0001c0001t0003g0002 a0001c0001t0007g0002	11	391	0.0281	34	c.-10 others(45): Show c.-1028_-1027insGGGAAAGCCTAGGGCATGGGTGACCATAGGGCCA	AQP6	ENSG00000086159.14	transcript	ENST00000315520.10	protein_coding		800		chr12	TogoVar
ARC_chr8_142606049_142619479	142607233	A A	AGTGGAGG others(27): Show AGTGGAGGGTGGCGGGGAGGGGAGTGGAGGGTGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA19070.hp2 NA19087.hp1 NA18999.hp2 NA19070.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0005 a0001c0002t0005g0005	3	305	0.0098	34	c.53 others(45): Show c.5366_*5367insGCCACCCTCCACTCCCCTCCCCGCCACCCTCCAC	ARC	ENSG00000198576.4	transcript	ENST00000356613.4	protein_coding		3815		chr8	TogoVar
ARFRP1_chr20_63693647_63712976	63693681	A A	ACCACCAC others(27): Show ACCACCACCACACCACCTCCACCACACCTCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	253	0.0040	34	c.67 others(45): Show c.6761_*6762insAGGTGGAGGTGTGGTGGAGGTGGTGTGGTGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4965		chr20	TogoVar
ARHGAP10_chr4_147727088_148077776	148043746	G G	GTATATAT others(27): Show GTATATATGTATATATATGTGTATATATATGTATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02922.hp1 HG02896.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0064 a0001c0001t0001g0002 a0001c0001t0001g0064	2	76	0.0263	34	c.186 others(53): Show c.1868-3128_1868-3095dupGTGTATATATATGTATATATATATGT ATATATAT	ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP12_chr10_31800398_31933831	31920449	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0052 a0001c0001t0005g0052	1	138	0.0072	34	c.-11 others(53): Show c.-111+8233_-111+8234insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	ARHGAP12	ENSG00000165322.18	transcript	ENST00000344936.7	protein_coding	1/19			chr10	TogoVar
ARHGAP15_chr2_143124419_143773352	143413966	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	22	0.0455	34	c.475 others(53): Show c.475-21634_475-21633insTGTGTGTGTGTGTGCGCGCGCGCGCG CGCGCGCG	ARHGAP15	ENSG00000075884.14	transcript	ENST00000295095.11	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGAP15_chr2_143124419_143773352	143470849	C C	CACACACG others(27): Show CACACACGTATATTTATGTGTGTGTGTATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	160	0.0063	34	c.704 others(53): Show c.704-16520_704-16519insACGTATATTTATGTGTGTGTGTATAT ATATACAC	ARHGAP15	ENSG00000075884.14	transcript	ENST00000295095.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGAP15_chr2_143124419_143773352	143542838	G G	GTATATAT others(27): Show GTATATATGATATATATAATATCACATATATAGTA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0059 a0001c0002t0002g0059	1	108	0.0093	34	c.926 others(53): Show c.926-13556_926-13523dupTATAATATCACATATATAGTATATAT ATGATATA	ARHGAP15	ENSG00000075884.14	transcript	ENST00000295095.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGAP20_chr11_110572043_110717437	110585025	G G	GTGAATAT others(27): Show GTGAATATATATGAATGTGAATATATATGAATATA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03942.hp2 HG03834.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0003 a0001c0013t0003 a0001c0001t0003 a0001c0013t0003	a0001c0001t0003g0089 a0001c0013t0003g0068 a0001c0001t0003g0089 a0001c0013t0003g0068	2	143	0.0140	34	c.141 others(53): Show c.1415+1190_1415+1191insTATATTCATATATATTCACATTCATA TATATTCA	ARHGAP20	ENSG00000137727.13	transcript	ENST00000683387.1	protein_coding	12/14			chr11	TogoVar
ARHGAP20_chr11_110572043_110717437	110687035	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	126	0.0079	34	c.188 others(51): Show c.188+3511_188+3512insATATATATATATATATATATATATATAT ATATAT	ARHGAP20	ENSG00000137727.13	transcript	ENST00000683387.1	protein_coding	2/14			chr11	TogoVar
ARHGAP21_chr10_24578614_24728887	24628808	T T	TATATATA others(27): Show TATATATATATACACACATATATGTACATATATAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA19030.hp1 NA18522.hp1 NA19030.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0138 a0005c0005t0001g0285 a0005c0005t0001g0138 a0005c0005t0001g0285	2	349	0.0057	34	c.495 others(51): Show c.495+1187_495+1188insGTATATATGTACATATATGTGTGTATAT ATATAT	ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	7/25			chr10	TogoVar
ARHGAP21_chr10_24578614_24728887	24628872	T T	TACATATA others(27): Show TACATATATACACATATATATACATACATATATAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	350	0.0029	34	c.495 others(51): Show c.495+1090_495+1123dupGTATATATGTATGTATATATATGTGTAT ATATGT	ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	7/25			chr10	TogoVar
ARHGAP23_chr17_38423464_38517385	38513074	T T	TTAAATAT others(27): Show TTAAATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01070.hp1 HG01070.hp2 others(21): Show HG00558.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01175.hp1 HG01255.hp2 HG01361.hp2 HG01433.hp2 HG02055.hp1 HG02148.hp1 HG02572.hp2 HG03225.hp2 HG03579.hp2 HG03834.hp2 NA18945.hp2 NA18960.hp1 NA18966.hp1 NA18970.hp1 NA18975.hp2 NA18998.hp1 NA19010.hp1 NA19010.hp2 NA19067.hp2	a0001 a0009 a0012 a0001 a0009 a0012	a0001c0001 a0001c0004 a0001c0005 others(5): Show a0001c0001 a0001c0004 a0001c0005 a0001c0009 a0001c0045 a0001c0052 a0009c0026 a0012c0039	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(5): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0001c0009t0003 a0001c0045t0001 a0001c0052t0001 a0009c0026t0001 a0012c0039t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0089 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0089 a0001c0001t0001g0120 a0001c0001t0001g0134 a0001c0001t0001g0165 a0001c0001t0001g0224 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0004t0001g0031 a0001c0004t0001g0133 a0001c0004t0001g0170 a0001c0004t0001g0171 a0001c0004t0001g0182 a0001c0004t0001g0199 a0001c0005t0001g0159 a0001c0009t0003g0161 a0001c0045t0001g0096 a0001c0052t0001g0287 a0009c0026t0001g0099 a0012c0039t0001g0186	24	75	0.3200	34	c.21 others(45): Show c.2102_*2103insTAAATATATATATATATATATATATATATATATA	ARHGAP23	ENSG00000275832.5	transcript	ENST00000622683.5	protein_coding		690		chr17	TogoVar

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