Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AOPEP_chr9_94721699_95092159	94743211	G G	GGAAGAAG others(23): Show GGAAGAAGAGGAAGAAGAGGAAGAAGAGGAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0180 a0003c0003t0001g0180	1	182	0.0055	30	c.-13 others(51): Show c.-135-16421_-135-16420insGGAAGAAGAGGAAGAAGAAGAGGA AGAAGA	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(23): Show AAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03209.hp1 HG03453.hp1 HG02723.hp2 HG03209.hp1 HG03453.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0004 a0001c0001t0001 a0003c0003t0004	a0001c0001t0001g0275 a0003c0003t0004g0073 a0003c0003t0004g0092 a0001c0001t0001g0275 a0003c0003t0004g0073 a0003c0003t0004g0092	3	370	0.0081	30	c.317 others(47): Show c.3171+229_3171+230insAAAAAAAAAAAAAAAATATATATATATA TA	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AP1M2_chr19_10567671_10592312	10570547	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 NA19082.hp1 HG00673.hp2 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0177 a0001c0002t0002g0262 a0001c0002t0002g0177 a0001c0002t0002g0262	2	394	0.0051	30	c.25 others(41): Show c.2518_*2519insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding		2123		chr19	TogoVar
AP1M2_chr19_10567671_10592312	10585291	G G	GAAAGAAG others(23): Show GAAAGAAGGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0040 a0001c0002t0004g0040	1	394	0.0025	30	c.43- others(45): Show c.43-1222_43-1221insTTCTTTCTTTCTTTCTTTCTTTCCTTCTTT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	1/11			chr19	TogoVar
AP1S2_chrX_15820806_15859813	15834439	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	318	0.0031	30	c.427 others(47): Show c.427-6269_427-6240dupATATATATATATATATATATATATATAT AT	AP1S2	ENSG00000182287.15	transcript	ENST00000672987.1	protein_coding	4/5			chrX	TogoVar
AP1S3_chr2_223750326_223842582	223756338	G G	GGAAGAAA others(23): Show GGAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0077 a0001c0001t0050g0077	1	340	0.0029	30	c.23 others(41): Show c.2376_*2377insTCTTTTCTTTTCTTTTCTTTTCTTTTCTTC	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	5/5	2376		chr2	TogoVar
AP1S3_chr2_223750326_223842582	223756338	G G	GGAAGAAA others(23): Show GGAAGAAAAGAAAAGAAAAGAAAATAAAAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0074 a0001c0001t0048g0074	1	340	0.0029	30	c.23 others(41): Show c.2376_*2377insTCTTTTATTTTCTTTTCTTTTCTTTTCTTC	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	5/5	2376		chr2	TogoVar
AP2A2_chr11_920870_1017240	935603	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03516.hp2 NA18985.hp2 others(1): Show HG01081.hp2 HG03516.hp2 NA18985.hp2 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0006 a0001c0002t0002 a0001c0003t0006	a0001c0002t0002g0167 a0001c0002t0002g0245 a0001c0002t0002g0252 others(1): Show a0001c0002t0002g0167 a0001c0002t0002g0245 a0001c0002t0002g0252 a0001c0003t0006g0264	4	268	0.0149	30	c.67+ others(45): Show c.67+9537_67+9538insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2S1_chr19_46833167_46855846	46833424	G G	GGAGAAGA others(23): Show GGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	424	0.0024	30	c.50 others(41): Show c.5022_*5023insTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC	AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding		4742		chr19	TogoVar
AP2S1_chr19_46833167_46855846	46833427	A A	AAAGAGAA others(23): Show AAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02965.hp1 HG03098.hp2 others(4): Show HG01891.hp2 HG02965.hp1 HG03098.hp2 NA18945.hp1 NA18991.hp2 NA19070.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0014 a0001c0001t0001g0151 a0001c0001t0001g0184 others(4): Show a0001c0001t0001g0014 a0001c0001t0001g0151 a0001c0001t0001g0184 a0001c0001t0001g0290 a0001c0001t0001g0307 a0001c0001t0002g0317 a0001c0001t0004g0203	7	424	0.0165	30	c.50 others(41): Show c.5019_*5020insCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT	AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding		4739		chr19	TogoVar
AP2S1_chr19_46833167_46855846	46833445	G G	GAGAAGAG others(23): Show GAGAAGAGAAGAGAAGAGAAGAGAAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	424	0.0024	30	c.50 others(41): Show c.5001_*5002insTCTCTCTTCTCTTCTCTTCTCTTCTCTTCT	AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding		4721		chr19	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	226	0.0044	30	c.787 others(49): Show c.787-12109_787-12108insAAAAAAAATATATATATATATATATA TATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	226	0.0044	30	c.787 others(49): Show c.787-12109_787-12108insAAAAAAAAAAAATATATATATATATA TATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP4E1_chr15_50903683_51010895	50964955	C C	CCCCACAC others(23): Show CCCCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02004.hp1 NA18992.hp1 HG01943.hp2 HG02004.hp1 NA18992.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0028 a0002c0003t0003g0029 a0002c0003t0003g0030 a0002c0003t0003g0028 a0002c0003t0003g0029 a0002c0003t0003g0030	3	392	0.0077	30	c.185 others(49): Show c.1852-3307_1852-3306insCCACACACACACACACACACACACAC ACAC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	51007479	C C	CTGGATTT others(23): Show CTGGATTTTGGCCATTCTAATAGGTGTGTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	392	0.0026	30	c.48 others(41): Show c.4817_*4818insTGGATTTTGGCCATTCTAATAGGTGTGTAG	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding		1585		chr15	TogoVar
AP4S1_chr14_31020649_31101450	31096670	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0193 a0001c0001t0028g0193	1	346	0.0029	30	c.36 others(41): Show c.3635_*3636insATATATATATATATATATATATATATATAT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding		221		chr14	TogoVar
APAF1_chr12_98640290_98740433	98665255	C C	CACATATA others(23): Show CACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0158	1	366	0.0027	30	c.956 others(45): Show c.956-297_956-296insCATATATATATATATATATATATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98665255	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18942.hp2 NA18962.hp2 others(2): Show HG03927.hp2 NA18942.hp2 NA18962.hp2 NA18963.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0131 a0001c0001t0003g0136 a0001c0001t0003g0137 others(2): Show a0001c0001t0003g0131 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0175 a0001c0001t0004g0198	5	366	0.0137	30	c.956 others(45): Show c.956-274_956-273insATATATATATATATATATATATATATATAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98665278	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0144 a0001c0001t0003g0145	2	366	0.0055	30	c.956 others(45): Show c.956-274_956-273insATATATATATATATATATATATATATATTT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98707692	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0316 a0001c0001t0002g0317	2	366	0.0055	30	c.272 others(47): Show c.2722-873_2722-872insTATATATATATATATATATATATATATA TA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APBA1_chr9_69422532_69677371	69636828	A A	AGAGAGGG others(23): Show AGAGAGGGAGGGAGGGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18964.hp2 NA19009.hp2 NA18946.hp2 NA18964.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0085 a0001c0001t0002g0199 a0001c0001t0002g0065 a0001c0001t0002g0085 a0001c0001t0002g0199	3	210	0.0143	30	c.-70 others(49): Show c.-70+35324_-70+35325insCCTCCCTCCCTCCCTCCCTCCCTCCC TCTC	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69658282	T T	TTTTCTTT others(23): Show TTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18979.hp2 NA18944.hp1 NA18979.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0086 a0002c0002t0003g0141 a0001c0001t0001g0086 a0002c0002t0003g0141	2	210	0.0095	30	c.-70 others(49): Show c.-70+13870_-70+13871insGAGAGAGAAAGAAAGAAAGAAAGAAA GAAA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA2_chr15_28880974_29123315	28987725	G G	GACATATA others(23): Show GACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0040 a0002c0002t0021g0040	1	204	0.0049	30	c.-94 others(47): Show c.-94-8027_-94-8026insCATATATATATATATATATATATATATA TA	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	28987725	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18940.hp2 HG02083.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0042 a0001c0001t0002 a0001c0001t0042	a0001c0001t0002g0153 a0001c0001t0042g0097 a0001c0001t0002g0153 a0001c0001t0042g0097	2	204	0.0098	30	c.-94 others(47): Show c.-94-8027_-94-8026insTATATATATATATATATATATATATATA TA	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBB2_chr4_40805027_41219542	40964753	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG01358.hp1 others(8): Show HG00558.hp1 HG00558.hp2 HG01358.hp1 HG02165.hp2 HG02717.hp1 HG02738.hp1 NA18955.hp2 NA18970.hp1 NA18990.hp1 NA19066.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0004c0007	a0001c0002t0001 a0001c0002t0002 a0001c0002t0038 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0038 a0001c0002t0043 a0001c0003t0001 a0002c0001t0023 a0004c0007t0007	a0001c0002t0001g0039 a0001c0002t0001g0070 a0001c0002t0002g0071 others(8): Show a0001c0002t0001g0039 a0001c0002t0001g0070 a0001c0002t0002g0071 a0001c0002t0002g0098 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0038g0051 a0001c0002t0043g0169 a0001c0003t0001g0185 a0002c0001t0023g0184 a0004c0007t0007g0056	11	192	0.0573	30	c.836 others(49): Show c.836-19681_836-19680insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159907	A A	AAGGAGAA others(23): Show AAGGAGAAGGAGAAGGAGAAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0069 a0001c0003t0001g0069	1	192	0.0052	30	c.-41 others(51): Show c.-416-16766_-416-16765insCCTCCTCCTCCTTCTCCTTCTCCT TCTCCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159907	A A	AAGGAGAA others(23): Show AAGGAGAAGGAGAAGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01169.hp2 HG01261.hp2 others(1): Show HG00438.hp1 HG01169.hp2 HG01261.hp2 HG03704.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 others(1): Show a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003	a0001c0003t0003g0136 a0001c0004t0001g0121 a0001c0004t0002g0192 others(1): Show a0001c0003t0003g0136 a0001c0004t0001g0121 a0001c0004t0002g0192 a0001c0004t0003g0043	4	192	0.0208	30	c.-41 others(51): Show c.-416-16766_-416-16765insCCTCCTCCTCCTCCTCCTTCTCCT TCTCCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159940	G G	GAGGAGGA others(23): Show GAGGAGGAGGAGGAGAAGGAGGAGAAGGAGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0189 a0002c0001t0005g0189	1	192	0.0052	30	c.-41 others(51): Show c.-416-16799_-416-16798insTCTCCTTCTCCTCCTTCTCCTCCT CCTCCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159955	G G	GAGGAGAA others(23): Show GAGGAGAAGGAGAAGGAGAAGGAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0044 a0002c0001t0044	a0002c0001t0044g0190 a0002c0001t0044g0190	1	192	0.0052	30	c.-41 others(51): Show c.-416-16814_-416-16813insTCTTCTTCTCCTTCTCCTTCTCCT TCTCCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159961	G G	GAGGAGAA others(23): Show GAGGAGAAGGAGAAGGAGAAGGAGAAGAAGA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0029 a0002c0001t0029	a0002c0001t0029g0002 a0002c0001t0029g0002	1	192	0.0052	30	c.-41 others(51): Show c.-416-16820_-416-16819insTCTTCTTCTCCTTCTCCTTCTCCT TCTCCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APEH_chr3_49669351_49688971	49673801	C C	CCTCACGC others(23): Show CCTCACGCTCACGCTCACGCTCACGCTCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	318	0.0031	30	c.-60 others(39): Show c.-601_-600insCTCACGCTCACGCTCACGCTCACGCTCACG	APEH	ENSG00000164062.13	transcript	ENST00000296456.10	protein_coding		549		chr3	TogoVar
APLF_chr2_68462585_68585162	68529871	G G	GGGCCAGA others(23): Show GGGCCAGAACCTGGAAGCAGAGCGCAGGACC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0169 a0002c0002t0010g0169	1	176	0.0057	30	c.804 others(47): Show c.804+3630_804+3659dupGGCCAGAACCTGGAAGCAGAGCGCAGGA CC	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
APOA1_chr11_116830751_116842622	116842618	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 NA20300.hp2 HG01975.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	448	0.0045	30	c.-50 others(41): Show c.-5035_-5034insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	APOA1	ENSG00000118137.10	transcript	ENST00000236850.5	protein_coding		4997		chr11	TogoVar
APOA4_chr11_116815700_116828304	116824772	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0017 a0006c0012t0001g0017	1	462	0.0022	30	c.-15 others(41): Show c.-1582_-1581insATATATATATATATATATATATTTTTTTTT	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		1469		chr11	TogoVar
APOA5_chr11_116784367_116796879	116784500	T T	TGGGGAAA others(23): Show TGGGGAAAAACAAAGCCAAACCCCACACAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0003 a0002c0002t0003g0003	1	476	0.0021	30	c.55 others(41): Show c.5598_*5627dupTTTGTGTGGGGTTTGGCTTTGTTTTTCCCC	APOA5	ENSG00000110243.12	transcript	ENST00000227665.9	protein_coding		4866		chr11	TogoVar
APOBEC1_chr12_7644400_7670908	7660375	G G	GGAAGGAA others(23): Show GGAAGGAAAGAAAGAAAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01255.hp2 HG01433.hp2 others(6): Show HG00741.hp2 HG01255.hp2 HG01433.hp2 HG03490.hp2 HG03492.hp2 NA18969.hp1 NA18975.hp2 NA19011.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0114 others(6): Show a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0114 a0001c0002t0001g0166 a0001c0002t0001g0186 a0001c0002t0001g0224 a0001c0002t0001g0300 a0001c0002t0001g0318 a0001c0002t0001g0320	9	432	0.0208	30	c.16+ others(45): Show c.16+5481_16+5482insTTTCTTTCTTTCTTTTTCTTTCTTTCCTTC	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7660375	G G	GGAAGGAA others(23): Show GGAAGGAAGGAAAGAAAGAAAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01346.hp1 HG01192.hp2 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0076 a0001c0002t0001g0067 a0001c0002t0001g0076	2	432	0.0046	30	c.16+ others(45): Show c.16+5481_16+5482insTTTCTTTCTTTTTCTTTCTTTCCTTCCTTC	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7660410	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02922.hp2 HG02976.hp1 others(3): Show HG01175.hp1 HG02922.hp2 HG02976.hp1 HG03225.hp2 HG03486.hp1 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0002c0001t0001	a0001c0002t0001g0322 a0001c0002t0001g0329 a0001c0002t0001g0347 others(3): Show a0001c0002t0001g0322 a0001c0002t0001g0329 a0001c0002t0001g0347 a0001c0002t0002g0369 a0001c0003t0001g0027 a0002c0001t0001g0095	6	432	0.0139	30	c.16+ others(45): Show c.16+5446_16+5447insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7660412	G G	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0375 a0002c0001t0001g0375	1	432	0.0023	30	c.16+ others(45): Show c.16+5444_16+5445insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC3B_chr22_38977347_38997779	38988680	T T	TTTCTCTC others(23): Show TTTCTCTCTTCTCTCTTTCTCTCTTTCTCTC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	354	0.0028	30	c.570 others(45): Show c.570-771_570-770insCTTCTCTCTTTCTCTCTTTCTCTCTTCTCT	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(23): Show CTCTCTTTCTCTCCTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0140 a0005c0006t0001g0140	1	354	0.0028	30	c.570 others(45): Show c.570-771_570-770insCTTTCTCTCCTTCTTTCTTTCTTTCTTTCT	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(23): Show CTCTCTTTCTCTCTTTCTCTCTTTCTCTCTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02145.hp2 HG02647.hp1 others(4): Show HG01943.hp1 HG02145.hp2 HG02647.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp1 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0007c0013 a0001c0001 a0007c0012 a0007c0013	a0001c0001t0001 a0007c0012t0001 a0007c0013t0001 a0001c0001t0001 a0007c0012t0001 a0007c0013t0001	a0001c0001t0001g0114 a0007c0012t0001g0007 a0007c0013t0001g0007 a0001c0001t0001g0114 a0007c0012t0001g0007 a0007c0013t0001g0007	7	354	0.0198	30	c.570 others(45): Show c.570-771_570-770insCTTTCTCTCTTTCTCTCTTTCTCTCTTTCT	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(23): Show CTCTCTTTCTCTCTTTCTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	354	0.0028	30	c.570 others(45): Show c.570-771_570-770insCTTTCTCTCTTTCTCTCTTTCTTTCTTTCT	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(23): Show CTCTCTTTCTCTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01258.hp2 others(6): Show HG01256.hp2 HG01258.hp1 HG01258.hp2 NA18954.hp1 NA18965.hp1 NA18969.hp2 NA19057.hp2 NA19063.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(3): Show a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0057 a0001c0001t0001g0094 a0001c0001t0001g0133	9	354	0.0254	30	c.570 others(45): Show c.570-771_570-770insCTTTCTCTCTTTCTTTCTTTCTTTCTTTCT	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(23): Show CTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0181 a0002c0002t0001g0181	1	354	0.0028	30	c.570 others(45): Show c.570-771_570-770insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
APOB_chr2_20996429_21049073	21000846	G G	GTAATTAT others(23): Show GTAATTATAAAATATGTAATTATAAACATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG02056.hp1 HG02129.hp2 others(4): Show HG00597.hp2 HG02056.hp1 HG02129.hp2 HG03654.hp1 HG04228.hp1 NA18983.hp2 NA20752.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0006c0095 a0007c0009 a0001c0001 a0006c0095 a0007c0009	a0001c0001t0001 a0006c0095t0001 a0007c0009t0001 a0001c0001t0001 a0006c0095t0001 a0007c0009t0001	a0001c0001t0001g0034 a0001c0001t0001g0158 a0001c0001t0001g0175 others(3): Show a0001c0001t0001g0034 a0001c0001t0001g0158 a0001c0001t0001g0175 a0001c0001t0001g0177 a0006c0095t0001g0200 a0007c0009t0001g0039	7	350	0.0200	30	c.88 others(39): Show c.883_*884insAAATGTTTATAATTACATATTTTATAATTA	APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding		582		chr2	TogoVar
APOB_chr2_20996429_21049073	21000981	G G	GTAATTAT others(23): Show GTAATTATAAACATTTTAATTATAAAATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	350	0.0029	30	c.74 others(39): Show c.748_*749insAATATTTTATAATTAAAATGTTTATAATTA	APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding		447		chr2	TogoVar
APOB_chr2_20996429_21049073	21000992	C C	CATTTTAA others(23): Show CATTTTAATTATAAAATATGTAATTATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02559.hp1 others(2): Show HG02109.hp1 HG02280.hp1 HG02559.hp1 HG02965.hp2 HG03098.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0016 a0010c0011t0001g0046 a0010c0011t0001g0016 a0010c0011t0001g0046	5	350	0.0143	30	c.73 others(39): Show c.737_*738insATTTATAATTACATATTTTATAATTAAAAT	APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding		436		chr2	TogoVar
APOB_chr2_20996429_21049073	21001022	C C	CATTTTAA others(23): Show CATTTTAATTATAAAATATGTAATTATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA19084.hp2 NA18964.hp2 NA19084.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0084 a0003c0002t0001g0090 a0003c0002t0001g0084 a0003c0002t0001g0090	2	350	0.0057	30	c.70 others(39): Show c.707_*708insATTTATAATTACATATTTTATAATTAAAAT	APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding		406		chr2	TogoVar
APOB_chr2_20996429_21049073	21001022	C C	CATTTTAA others(23): Show CATTTTAATTATAAAATATTTAATTATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(70): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01884.hp1 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02055.hp1 HG02129.hp2 HG02145.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02723.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03942.hp2 HG04184.hp2 NA18612.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18959.hp2 NA18961.hp1 NA18969.hp2 NA18971.hp1 NA18974.hp1 NA19007.hp2 NA19011.hp1 NA19066.hp2 NA19074.hp1 NA19085.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0007 a0012 a0026 a0031 a0039 a0055 a0064 a0067 a0070	a0001c0001 a0002c0005 a0002c0007 others(12): Show a0001c0001 a0002c0005 a0002c0007 a0002c0008 a0003c0002 a0003c0057 a0007c0009 a0012c0012 a0026c0038 a0031c0030 a0039c0073 a0055c0092 a0064c0062 a0067c0056 a0070c0051	a0001c0001t0001 a0002c0005t0001 a0002c0007t0001 others(13): Show a0001c0001t0001 a0002c0005t0001 a0002c0007t0001 a0002c0008t0001 a0003c0002t0001 a0003c0057t0001 a0007c0009t0001 a0012c0012t0001 a0012c0012t0003 a0026c0038t0001 a0031c0030t0001 a0039c0073t0001 a0055c0092t0003 a0064c0062t0001 a0067c0056t0001 a0070c0051t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0134 others(43): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0175 a0002c0005t0001g0003 a0002c0005t0001g0031 a0002c0005t0001g0114 a0002c0005t0001g0115 a0002c0005t0001g0116 a0002c0005t0001g0118 a0002c0007t0001g0107 a0002c0008t0001g0008 a0002c0008t0001g0033 a0002c0008t0001g0152 a0002c0008t0001g0153 a0002c0008t0001g0154 a0002c0008t0001g0155 a0003c0002t0001g0004 a0003c0002t0001g0011 a0003c0002t0001g0012 a0003c0002t0001g0021 a0003c0002t0001g0024 a0003c0002t0001g0085 a0003c0002t0001g0089 a0003c0002t0001g0093 a0003c0002t0001g0097 a0003c0002t0001g0099 a0003c0057t0001g0079 a0007c0009t0001g0014 a0007c0009t0001g0039 a0007c0009t0001g0166 a0007c0009t0001g0183 a0007c0009t0001g0207 a0007c0009t0001g0210 a0007c0009t0001g0214 a0012c0012t0001g0023 a0012c0012t0001g0088 a0012c0012t0003g0020 a0026c0038t0001g0040 a0031c0030t0001g0022 a0039c0073t0001g0117 a0055c0092t0003g0180 a0064c0062t0001g0098 a0067c0056t0001g0082 a0070c0051t0001g0080	73	350	0.2086	30	c.70 others(39): Show c.707_*708insATTTATAATTAAATATTTTATAATTAAAAT	APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding		406		chr2	TogoVar