Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
AP1G1_chr16_71724000_71813834	71736098	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA18951.hp1 NA18968.hp2 others(1): Show HG02148.hp2 NA18951.hp1 NA18968.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0276 a0001c0001t0002g0290 a0001c0001t0011g0199 others(1): Show a0001c0001t0002g0276 a0001c0001t0002g0290 a0001c0001t0011g0199 a0001c0001t0011g0260	4	216	0.0185	15	c.226 others(34): Show c.2269-1406_2269-1392dupTTTTTTTTTTTTTTT	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	21/22			chr16	TogoVar
AP1G1_chr16_71724000_71813834	71736117	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0310 a0001c0001t0003g0310	1	212	0.0047	15	c.226 others(34): Show c.2269-1411_2269-1410insATTTTTTTTTTTTTT	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	21/22			chr16	TogoVar
AP1G1_chr16_71724000_71813834	71736117	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03540.hp1 NA18966.hp2 HG02280.hp1 HG03540.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0301 a0001c0001t0002g0307 a0001c0001t0011g0235 a0001c0001t0002g0301 a0001c0001t0002g0307 a0001c0001t0011g0235	3	214	0.0140	15	c.226 others(34): Show c.2269-1411_2269-1410insATATTTTTTTTTTTT	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	21/22			chr16	TogoVar
AP1G1_chr16_71724000_71813834	71809206	A A	AGGGGGTA others(8): Show AGGGGGTAGGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0272 a0001c0001t0003g0272	1	310	0.0032	15	c.-46 others(24): Show c.-462_-448dupCACCCCCCTACCCCC	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding		373		chr16	TogoVar
AP1M1_chr19_16192911_16250906	16215194	C C	CAGGGGCG others(8): Show CAGGGGCGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02080.hp2 HG02735.hp1 others(4): Show HG01069.hp1 HG02080.hp2 HG02735.hp1 HG02735.hp2 NA18957.hp2 NA18969.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0008 a0001c0001t0112 others(2): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0112 a0001c0001t0126 a0001c0002t0021	a0001c0001t0005g0216 a0001c0001t0008g0218 a0001c0001t0008g0253 others(4): Show a0001c0001t0005g0216 a0001c0001t0008g0218 a0001c0001t0008g0253 a0001c0001t0112g0228 a0001c0001t0126g0244 a0001c0002t0021g0094 a0001c0002t0021g0098	7	252	0.0278	15	c.546 others(32): Show c.546+6017_546+6018insAGGGGCGGGGGGGGG	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	5/11			chr19	TogoVar
AP1M1_chr19_16192911_16250906	16244882	T T	TTTTTTGT others(8): Show TTTTTTGTTGTTGTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00609.hp2 others(15): Show HG00140.hp1 HG00140.hp2 HG00609.hp2 HG00673.hp1 HG01099.hp1 HG01169.hp1 HG01361.hp2 HG02135.hp1 HG02155.hp2 HG02257.hp1 HG02293.hp2 HG02735.hp1 HG02735.hp2 HG06807.hp1 NA18943.hp1 NA18986.hp1 NA19084.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0152 a0001c0001t0154 a0001c0002t0011 others(10): Show a0001c0001t0152 a0001c0001t0154 a0001c0002t0011 a0001c0002t0021 a0001c0002t0022 a0001c0002t0047 a0001c0002t0056 a0001c0002t0060 a0001c0002t0061 a0001c0002t0065 a0001c0002t0066 a0001c0002t0069 a0001c0002t0073	a0001c0001t0152g0077 a0001c0001t0154g0056 a0001c0002t0011g0113 others(15): Show a0001c0001t0152g0077 a0001c0001t0154g0056 a0001c0002t0011g0113 a0001c0002t0011g0123 a0001c0002t0011g0146 a0001c0002t0011g0152 a0001c0002t0021g0094 a0001c0002t0021g0098 a0001c0002t0022g0151 a0001c0002t0022g0162 a0001c0002t0047g0096 a0001c0002t0056g0130 a0001c0002t0060g0158 a0001c0002t0061g0012 a0001c0002t0065g0129 a0001c0002t0066g0159 a0001c0002t0069g0145 a0001c0002t0073g0114	18	66	0.2727	15	c.10 others(28): Show c.10449_*10450insTTTGTTGTTGTTGTT	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	12/12	10450	INFO_REALIGN_3_PRIME	chr19	TogoVar
AP1M2_chr19_10567671_10592312	10570547	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG02056.hp1 HG00544.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0180 a0001c0002t0002g0010 a0001c0002t0002g0180	2	10	0.2000	15	c.25 others(26): Show c.2518_*2519insTTTTTTTTTTTTTTT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding		2123		chr19	TogoVar
AP1M2_chr19_10567671_10592312	10585288	A A	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	392	0.0026	15	c.43- others(30): Show c.43-1233_43-1219dupCTTTCTTTCTTTCTT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	1/11			chr19	TogoVar
AP1S2_chrX_15820806_15859813	15834439	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	182	0.0055	15	c.427 others(32): Show c.427-6240_427-6239insATATATATATATATA	AP1S2	ENSG00000182287.15	transcript	ENST00000672987.1	protein_coding	4/5			chrX	TogoVar
AP1S2_chrX_15820806_15859813	15834479	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA18959.hp1 NA18975.hp1 others(2): Show HG02055.hp1 NA18959.hp1 NA18975.hp1 NA19003.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0103 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0103 a0001c0001t0001g0116 a0001c0001t0003g0136	5	258	0.0194	15	c.427 others(32): Show c.427-6280_427-6279insTATATATATATATAT	AP1S2	ENSG00000182287.15	transcript	ENST00000672987.1	protein_coding	4/5			chrX	TogoVar
AP1S3_chr2_223750326_223842582	223756338	G G	GGAAGAAA others(8): Show GGAAGAAAAGAAAAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG02451.hp1 HG00408.hp2 HG00609.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0046 a0001c0001t0023 a0001c0001t0046	a0001c0001t0023g0042 a0001c0001t0023g0054 a0001c0001t0046g0322 a0001c0001t0023g0042 a0001c0001t0023g0054 a0001c0001t0046g0322	3	303	0.0099	15	c.23 others(26): Show c.2376_*2377insTCTTTTCTTTTCTTC	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	5/5	2376		chr2	TogoVar
AP2A2_chr11_920870_1017240	935603	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0264 a0001c0003t0006g0264	1	2	0.5000	15	c.67+ others(30): Show c.67+9523_67+9537dupTTTTTTTTTTTTTTT	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	946770	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp1 HG02886.hp1 HG02451.hp1 HG02572.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0047 a0001c0002t0004g0235 a0001c0002t0004g0254 a0001c0001t0001g0047 a0001c0002t0004g0235 a0001c0002t0004g0254	3	131	0.0229	15	c.68- others(32): Show c.68-12658_68-12657insAAAAAAAAAAAAAAA	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	997587	C C	CTTTCCTA others(8): Show CTTTCCTACTTTAGAA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	266	0.0038	15	c.195 others(34): Show c.1957-2844_1957-2830dupTTTCCTACTTTAGAA	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2B1_chr17_35582322_35731413	35720573	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	194	0.0052	15	c.278 others(34): Show c.2782-3051_2782-3050insATATATATATATATT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35720574	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0147 a0001c0001t0005g0147	1	346	0.0029	15	c.278 others(34): Show c.2782-3051_2782-3050insATATATATATATATA	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21			chr17	TogoVar
AP2M1_chr3_184169855_184189091	184187217	A A	AGTTTTGT others(8): Show AGTTTTGTTTTGTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0007	1	400	0.0025	15	c.36 others(26): Show c.3601_*3602insGTTTTGTTTTGTTTT	AP2M1	ENSG00000161203.14	transcript	ENST00000292807.9	protein_coding		3127		chr3	TogoVar
AP2S1_chr19_46833167_46855846	46833424	G G	GGAGAAGA others(8): Show GGAGAAGAGAAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	409	0.0024	15	c.50 others(26): Show c.5022_*5023insTTCTCTTCTCTTCTC	AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding		4742		chr19	TogoVar
AP2S1_chr19_46833167_46855846	46833427	A A	AAAGAGAA others(8): Show AAAGAGAAGAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01106.hp2 HG01255.hp1 others(17): Show HG00621.hp2 HG01106.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG02486.hp1 HG02723.hp1 HG02818.hp2 HG03579.hp2 NA18982.hp2 NA19070.hp2 NA19084.hp2 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0141 others(15): Show a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0141 a0001c0001t0001g0208 a0001c0001t0001g0215 a0001c0001t0001g0240 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0103 a0001c0001t0002g0119 a0001c0001t0002g0134 a0001c0001t0002g0207 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0265 a0001c0001t0002g0275	20	202	0.0990	15	c.50 others(26): Show c.5019_*5020insCTCTTCTCTTCTCTT	AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding		4739		chr19	TogoVar
AP3B1_chr5_77997326_78299698	78023439	C C	CAAGAAAA others(8): Show CAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02071.hp2 HG02809.hp2 others(2): Show HG02055.hp2 HG02071.hp2 HG02809.hp2 HG03471.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0002 a0001c0004t0002 a0001c0005t0002 a0001c0001t0002 a0001c0004t0002 a0001c0005t0002	a0001c0001t0002g0016 a0001c0004t0002g0007 a0001c0004t0002g0085 others(2): Show a0001c0001t0002g0016 a0001c0004t0002g0007 a0001c0004t0002g0085 a0001c0005t0002g0004 a0001c0005t0002g0190	5	138	0.0362	15	c.289 others(34): Show c.2895-2665_2895-2651dupTTCTTTTCTTTTCTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	24/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78144829	T T	TTTGTTGT others(8): Show TTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02809.hp2 HG00642.hp2 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0007 a0001c0004t0002g0185 a0001c0004t0002g0007 a0001c0004t0002g0185	2	172	0.0116	15	c.147 others(34): Show c.1474-3525_1474-3511dupCAACAACAACAACAA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	14/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78189869	C C	CAAATAAA others(8): Show CAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02602.hp2 NA18990.hp1 others(1): Show HG02083.hp1 HG02602.hp2 NA18990.hp1 NA19083.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0002 a0002c0003t0001 a0002c0003t0002	a0002c0003t0001g0051 a0002c0003t0001g0057 a0002c0003t0001g0081 others(1): Show a0002c0003t0001g0051 a0002c0003t0001g0057 a0002c0003t0001g0081 a0002c0003t0002g0064	4	74	0.0541	15	c.787 others(32): Show c.787-8222_787-8208dupTATTTTATTTTATTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(8): Show ATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0160 a0001c0002t0002g0160	1	111	0.0090	15	c.787 others(34): Show c.787-12109_787-12108insAAAAAAATATATATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(8): Show ATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG00741.hp2 others(11): Show HG00280.hp2 HG00597.hp2 HG00741.hp2 HG01175.hp1 HG01928.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02148.hp2 NA18956.hp2 NA18964.hp1 NA18969.hp1 NA18971.hp1 NA19081.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0017 a0001c0002 a0004c0017	a0001c0002t0001 a0001c0002t0002 a0004c0017t0002 a0001c0002t0001 a0001c0002t0002 a0004c0017t0002	a0001c0002t0001g0181 a0001c0002t0002g0075 a0001c0002t0002g0130 others(11): Show a0001c0002t0001g0181 a0001c0002t0002g0075 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0155 a0001c0002t0002g0159 a0001c0002t0002g0176 a0001c0002t0002g0179 a0004c0017t0002g0153	14	124	0.1129	15	c.787 others(34): Show c.787-12109_787-12108insAAAAAAAAATATATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATTT others(8): Show ATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01106.hp1 HG00639.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0138 a0001c0002t0001g0139	2	112	0.0179	15	c.787 others(34): Show c.787-12109_787-12108insAAAAAAAAAAATATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATTTTT others(8): Show ATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA20905.hp1 HG03654.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0148 a0001c0002t0002g0149	2	112	0.0179	15	c.787 others(34): Show c.787-12109_787-12108insAAAAAAAAAAAAATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78223027	C C	CTCTTTTT others(8): Show CTCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00639.hp2 others(41): Show HG00099.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp1 HG01168.hp2 HG01256.hp1 HG01346.hp2 HG01934.hp2 HG01981.hp2 HG02004.hp1 HG02055.hp1 HG02074.hp2 HG02109.hp2 HG02135.hp2 HG02148.hp1 HG02258.hp1 HG02280.hp2 HG02523.hp1 HG02615.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG03195.hp1 HG03453.hp2 HG03540.hp1 HG04228.hp1 HG04228.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp2 NA18970.hp2 NA18979.hp2 NA18982.hp2 NA19030.hp2 NA19063.hp2 NA19068.hp1 NA19081.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0002 a0001c0005t0002 a0001c0006t0001 a0003c0007t0002	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 others(41): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0083 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0002g0029 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0003g0115 a0001c0004t0002g0007 a0001c0005t0002g0189 a0001c0006t0001g0223 a0003c0007t0002g0162	44	167	0.2635	15	c.603 others(32): Show c.603+2514_603+2515insAAAAAAAAAAAAAGA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	6/26			chr5	TogoVar
AP3B2_chr15_82654281_82714875	82700397	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00597.hp2 others(39): Show HG00423.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG01109.hp1 HG01109.hp2 HG01928.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02615.hp2 HG02647.hp1 HG02723.hp1 HG02735.hp1 HG02886.hp2 HG03139.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03704.hp2 HG04184.hp1 NA18944.hp1 NA18952.hp2 NA18966.hp1 NA18969.hp1 NA18988.hp1 NA18998.hp1 NA19002.hp2 NA19005.hp1 NA19010.hp2 NA19056.hp2 NA19065.hp1 NA19079.hp1 NA19082.hp1 NA19090.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0014 a0003c0004 others(1): Show a0001c0001 a0001c0014 a0003c0004 a0005c0016	a0001c0001t0001 a0001c0014t0001 a0003c0004t0001 others(1): Show a0001c0001t0001 a0001c0014t0001 a0003c0004t0001 a0005c0016t0001	a0001c0001t0001g0024 a0001c0001t0001g0085 a0001c0001t0001g0099 others(39): Show a0001c0001t0001g0024 a0001c0001t0001g0085 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0014t0001g0198 a0003c0004t0001g0102 a0003c0004t0001g0103 a0005c0016t0001g0190	42	45	0.9333	15	c.113 others(32): Show c.113+9182_113+9196dupAAAAAAAAAAAAAAA	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	1/26			chr15	TogoVar
AP3M1_chr10_74115255_74155828	74137239	C C	CAAACAAA others(8): Show CAAACAAAACAAAACA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18994.hp1 NA19011.hp1 others(1): Show NA18948.hp1 NA18994.hp1 NA19011.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0228 a0001c0001t0003g0243 a0001c0001t0003g0037 a0001c0001t0003g0228 a0001c0001t0003g0243	4	271	0.0148	15	c.274 others(30): Show c.274-451_274-437dupTGTTTTGTTTTGTTT	AP3M1	ENSG00000185009.13	transcript	ENST00000355264.9	protein_coding	2/8			chr10	TogoVar
AP3M2_chr8_42148063_42176183	42166591	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0093 a0001c0001t0005g0093	1	172	0.0058	15	c.804 others(30): Show c.804-568_804-554dupAAAAAAAAAAAAAAA	AP3M2	ENSG00000070718.13	transcript	ENST00000396926.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
AP3S1_chr5_115836935_115919081	115845836	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	69	0.0145	15	c.69+ others(30): Show c.69+3754_69+3768dupAAAAAAAAAAAAAAA	AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
AP4E1_chr15_50903683_51010895	50938653	G G	GATCACCT others(8): Show GATCACCTGAGGTCAA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	390	0.0026	15	c.944 others(32): Show c.944-2789_944-2788insATCACCTGAGGTCAA	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	8/20			chr15	TogoVar
AP4E1_chr15_50903683_51010895	50962017	A A	AAATACAA others(8): Show AAATACAATACAATAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02004.hp1 HG02109.hp1 others(8): Show HG01943.hp2 HG02004.hp1 HG02109.hp1 HG02145.hp2 HG02486.hp1 HG02615.hp2 HG02922.hp2 HG03195.hp1 HG03516.hp2 NA18906.hp2 NA20129.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0003 a0002c0003t0006 a0003c0004t0007 others(1): Show a0002c0003t0003 a0002c0003t0006 a0003c0004t0007 a0003c0004t0018	a0002c0003t0003g0029 a0002c0003t0003g0030 a0002c0003t0006g0188 others(8): Show a0002c0003t0003g0029 a0002c0003t0003g0030 a0002c0003t0006g0188 a0002c0003t0006g0189 a0002c0003t0006g0192 a0003c0004t0007g0021 a0003c0004t0007g0022 a0003c0004t0007g0023 a0003c0004t0007g0024 a0003c0004t0018g0019 a0003c0004t0018g0020	11	270	0.0407	15	c.185 others(34): Show c.1851+3234_1851+3248dupAATACAATACAATAC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50962889	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02647.hp2 HG03139.hp1 others(2): Show HG01496.hp1 HG02647.hp2 HG03139.hp1 HG03540.hp2 NA18974.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0004 a0001c0001t0005 a0001c0001t0029 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0029 a0007c0011t0005	a0001c0001t0004g0354 a0001c0001t0005g0305 a0001c0001t0005g0321 others(2): Show a0001c0001t0004g0354 a0001c0001t0005g0305 a0001c0001t0005g0321 a0001c0001t0029g0306 a0007c0011t0005g0340	5	139	0.0360	15	c.185 others(34): Show c.1851+4108_1851+4122dupAAAAAAAAAAAAAAA	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50977706	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02145.hp1 HG01496.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0029 a0001c0001t0005 a0001c0001t0029	a0001c0001t0005g0322 a0001c0001t0029g0306 a0001c0001t0005g0322 a0001c0001t0029g0306	2	337	0.0059	15	c.196 others(34): Show c.1967-6310_1967-6296dupTTTTTTTTTTTTTTT	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50990344	T T	TTTATTAT others(8): Show TTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp1 others(73): Show HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp2 HG01256.hp2 HG01358.hp2 HG01516.hp2 HG01517.hp2 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02622.hp2 HG02922.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03239.hp2 HG03491.hp2 HG03710.hp2 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18941.hp2 NA18944.hp1 NA18950.hp1 NA18953.hp1 NA18954.hp2 NA18959.hp2 NA18961.hp2 NA18965.hp2 NA18966.hp1 NA18969.hp2 NA18971.hp2 NA18978.hp1 NA18984.hp1 NA18992.hp2 NA18998.hp2 NA19002.hp1 NA19006.hp1 NA19007.hp1 NA19012.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19079.hp2 NA19088.hp2 NA19091.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004	a0001c0001t0005 a0001c0001t0009 a0002c0002t0002 others(10): Show a0001c0001t0005 a0001c0001t0009 a0002c0002t0002 a0002c0002t0012 a0002c0002t0016 a0002c0002t0017 a0002c0002t0021 a0002c0002t0023 a0002c0002t0024 a0002c0003t0001 a0002c0003t0003 a0002c0003t0010 a0003c0004t0007	a0001c0001t0005g0305 a0001c0001t0005g0322 a0001c0001t0009g0319 others(73): Show a0001c0001t0005g0305 a0001c0001t0005g0322 a0001c0001t0009g0319 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0016 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0074 a0002c0002t0002g0077 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0091 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0012g0112 a0002c0002t0016g0073 a0002c0002t0016g0116 a0002c0002t0017g0055 a0002c0002t0017g0056 a0002c0002t0021g0006 a0002c0002t0023g0042 a0002c0002t0024g0047 a0002c0003t0001g0076 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0003g0132 a0002c0003t0010g0032 a0002c0003t0010g0034 a0003c0004t0007g0021 a0003c0004t0007g0022 a0003c0004t0007g0023	76	223	0.3408	15	c.209 others(34): Show c.2091-3008_2091-2994dupATTATTATTATTATT	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4M1_chr7_100096643_100114039	100099418	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18978.hp2 NA18950.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0069 a0001c0001t0003g0020 a0001c0001t0003g0069	2	252	0.0079	15	c.-22 others(26): Show c.-2297_-2296insAAAAAAAAAAAAAAA	AP4M1	ENSG00000221838.11	transcript	ENST00000359593.9	protein_coding		2224		chr7	TogoVar
AP4S1_chr14_31020649_31101450	31049428	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0130	1	179	0.0056	15	c.-71 others(34): Show c.-71-16697_-71-16696insAAAAAAATATATATA	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31049428	A A	AAATATAT others(8): Show AAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	179	0.0056	15	c.-71 others(34): Show c.-71-16697_-71-16696insATATATATATATATA	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31049428	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0186 a0001c0001t0025g0186	1	179	0.0056	15	c.-71 others(34): Show c.-71-16698_-71-16697insTATATATATATATAT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5			chr14	TogoVar
AP4S1_chr14_31020649_31101450	31083496	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03195.hp2 HG02559.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0018 a0001c0001t0012 a0001c0001t0018	a0001c0001t0012g0199 a0001c0001t0018g0205 a0001c0001t0012g0199 a0001c0001t0018g0205	2	112	0.0179	15	c.306 others(32): Show c.306+2924_306+2938dupTTTTTTTTTTTTTTT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP5Z1_chr7_4770623_4799397	4796849	G G	GTCTCTAC others(8): Show GTCTCTACTAAAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02615.hp2 HG03130.hp1 HG01243.hp1 HG02615.hp2 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0008 a0001c0002t0003g0068 a0001c0002t0003g0008 a0001c0002t0003g0068	3	338	0.0089	15	c.54 others(26): Show c.5464_*5465insTCTCTACTAAAAATA	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding		2453		chr7	TogoVar
APAF1_chr12_98640290_98740433	98653685	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	339	0.0029	15	c.526 others(32): Show c.526+4001_526+4002insTATATATATATATAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26			chr12	TogoVar
APAF1_chr12_98640290_98740433	98653687	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	309	0.0032	15	c.526 others(32): Show c.526+4003_526+4004insTATATATATATATAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26			chr12	TogoVar
APAF1_chr12_98640290_98740433	98653689	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18945.hp1 HG02965.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0065 a0001c0001t0009g0060 a0001c0001t0005g0065 a0001c0001t0009g0060	2	244	0.0082	15	c.526 others(32): Show c.526+4005_526+4006insTATATATATATATAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26			chr12	TogoVar
APAF1_chr12_98640290_98740433	98653691	A A	AAATATAT others(8): Show AAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	119	0.0084	15	c.526 others(32): Show c.526+4008_526+4009insATATATATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98653691	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02738.hp1 HG03195.hp2 others(6): Show HG01952.hp2 HG02738.hp1 HG03195.hp2 NA18939.hp2 NA18952.hp1 NA18981.hp1 NA18984.hp1 NA19065.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0080 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0248 a0001c0001t0001g0288 a0001c0001t0005g0042 a0001c0001t0005g0063 a0001c0001t0005g0081	9	127	0.0709	15	c.526 others(32): Show c.526+4007_526+4008insTATATATATATATAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26			chr12	TogoVar
APAF1_chr12_98640290_98740433	98665278	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	214	0.0047	15	c.956 others(30): Show c.956-274_956-273insATATATATATATATT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APBA1_chr9_69422532_69677371	69540122	G G	GCAACAAC others(8): Show GCAACAACAACAACAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01169.hp1 HG01346.hp1 others(10): Show HG00609.hp1 HG01169.hp1 HG01346.hp1 HG02074.hp2 HG03704.hp2 NA18946.hp1 NA18961.hp2 NA18966.hp1 NA18979.hp2 NA18985.hp1 NA19004.hp1 NA19240.hp2 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0007 a0001c0001 a0002c0002 a0004c0007	a0001c0001t0001 a0001c0001t0025 a0001c0001t0037 others(2): Show a0001c0001t0001 a0001c0001t0025 a0001c0001t0037 a0002c0002t0003 a0004c0007t0001	a0001c0001t0001g0086 a0001c0001t0001g0119 a0001c0001t0001g0121 others(10): Show a0001c0001t0001g0086 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0135 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0025g0140 a0001c0001t0037g0210 a0002c0002t0003g0147 a0004c0007t0001g0113	13	91	0.1429	15	c.-69 others(34): Show c.-69-22858_-69-22844dupTTGTTGTTGTTGTTG	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69658304	C C	CTCTCTCT others(8): Show CTCTCTCTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	106	0.0094	15	c.-70 others(34): Show c.-70+13848_-70+13849insAAGAAAGAAGAGAGA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar

Search by Variant

Search

Search Results