Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific 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
AP1G1_chr16_71724000_71813834	71736117	A A	AAAAAAAA others(4): Show AAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0313 a0001c0001t0002g0313	1	320	0.0031	11	c.226 others(30): Show c.2269-1411_2269-1410insATATTTTTTTT	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	21/22			chr16	TogoVar
AP1G1_chr16_71724000_71813834	71768500	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01358.hp2 HG01515.hp1 others(26): Show HG01175.hp2 HG01358.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01978.hp2 HG02055.hp2 HG02071.hp2 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03098.hp1 HG03831.hp1 HG03831.hp2 HG04204.hp1 HG04228.hp2 NA18978.hp2 NA18979.hp2 NA19030.hp2 NA19054.hp1 NA19056.hp2 NA19058.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0018 a0001c0001t0024 a0001c0008t0008 a0002c0002t0001 a0002c0002t0039	a0001c0001t0002g0264 a0001c0001t0002g0306 a0001c0001t0002g0316 others(26): Show a0001c0001t0002g0264 a0001c0001t0002g0306 a0001c0001t0002g0316 a0001c0001t0003g0196 a0001c0001t0003g0212 a0001c0001t0003g0273 a0001c0001t0004g0315 a0001c0001t0005g0055 a0001c0001t0005g0113 a0001c0001t0007g0071 a0001c0001t0009g0062 a0001c0001t0009g0065 a0001c0001t0009g0085 a0001c0001t0009g0086 a0001c0001t0015g0035 a0001c0001t0015g0036 a0001c0001t0015g0037 a0001c0001t0015g0038 a0001c0001t0015g0039 a0001c0001t0018g0225 a0001c0001t0024g0088 a0001c0008t0008g0181 a0002c0002t0001g0048 a0002c0002t0001g0108 a0002c0002t0001g0124 a0002c0002t0001g0158 a0002c0002t0001g0163 a0002c0002t0001g0180 a0002c0002t0039g0318	29	320	0.0906	11	c.642 others(28): Show c.642+1112_642+1122dupTTTTTTTTTTT	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	6/22			chr16	TogoVar
AP1G1_chr16_71724000_71813834	71794835	C C	CTTTTCTT others(4): Show CTTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG06807.hp1 HG03130.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0191 a0001c0003t0008g0192 a0001c0003t0008g0191 a0001c0003t0008g0192	2	320	0.0063	11	c.-3- others(26): Show c.-3-5354_-3-5353insAAAAAAGAAAA	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	1/22			chr16	TogoVar
AP1G1_chr16_71724000_71813834	71794835	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02145.hp2 others(6): Show HG01884.hp1 HG02109.hp1 HG02145.hp2 HG02559.hp2 HG02630.hp2 HG02818.hp1 HG03453.hp2 HG03471.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0037 others(1): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0037 a0001c0001t0038	a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0093 others(6): Show a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0093 a0001c0001t0005g0115 a0001c0001t0005g0116 a0001c0001t0005g0117 a0001c0001t0009g0067 a0001c0001t0037g0082 a0001c0001t0038g0083	9	320	0.0281	11	c.-3- others(26): Show c.-3-5364_-3-5354dupAAAAAAAAAAA	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	1/22			chr16	TogoVar
AP1G2_chr14_23554567_23572791	23555454	C C	CTCCAGTT others(4): Show CTCCAGTTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	396	0.0025	11	c.42 others(22): Show c.4284_*4294dupCAGAAACTGGA	AP1G2	ENSG00000213983.12	transcript	ENST00000397120.8	protein_coding		4112		chr14	TogoVar
AP1M1_chr19_16192911_16250906	16215194	C C	CAGGGGCG others(4): Show CAGGGGCGGGGG	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18939.hp2 NA18947.hp2 others(1): Show HG03710.hp1 NA18939.hp2 NA18947.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0136 a0001c0001t0139 a0001c0002t0002 others(1): Show a0001c0001t0136 a0001c0001t0139 a0001c0002t0002 a0001c0002t0023	a0001c0001t0136g0250 a0001c0001t0139g0275 a0001c0002t0002g0171 others(1): Show a0001c0001t0136g0250 a0001c0001t0139g0275 a0001c0002t0002g0171 a0001c0002t0023g0177	4	308	0.0130	11	c.546 others(28): Show c.546+6017_546+6018insAGGGGCGGGGG	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	5/11			chr19	TogoVar
AP1M1_chr19_16192911_16250906	16215219	G G	GGGGGGGG others(4): Show GGGGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0156 a0001c0002t0016g0156	1	308	0.0033	11	c.546 others(28): Show c.546+6043_546+6044insGGGGGGGGGAG	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
AP1M1_chr19_16192911_16250906	16239239	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp1 HG02886.hp2 HG02055.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0003 a0001c0001t0028g0186 a0001c0001t0028g0003 a0001c0001t0028g0186	2	308	0.0065	11	c.48 others(22): Show c.4834_*4844dupTTTTTTTTTTT	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	12/12	4845	INFO_REALIGN_3_PRIME	chr19	TogoVar
AP1M1_chr19_16192911_16250906	16250325	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0141 a0001c0001t0141	a0001c0001t0141g0267 a0001c0001t0141g0267	1	308	0.0033	11	c.15 others(24): Show c.15890_*15891insGTGTGTGTGTG	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding		4420		chr19	TogoVar
AP1M2_chr19_10567671_10592312	10567751	C C	CCTCCAGG others(4): Show CCTCCAGGAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0042 a0001c0002t0004g0042	1	394	0.0025	11	c.53 others(22): Show c.5304_*5314dupATTTCCTGGAG	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding		4919		chr19	TogoVar
AP1M2_chr19_10567671_10592312	10570547	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG02083.hp1 HG02523.hp1 others(8): Show HG00741.hp2 HG02083.hp1 HG02523.hp1 HG02698.hp2 HG03710.hp1 NA18995.hp1 NA19002.hp1 NA19030.hp2 NA19070.hp2 NA19076.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0031 a0001c0001t0001g0307 a0001c0001t0001g0311 others(7): Show a0001c0001t0001g0031 a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0002t0001g0098 a0001c0002t0002g0139 a0001c0002t0002g0162 a0001c0002t0003g0004 a0001c0002t0003g0140 a0001c0002t0003g0183 a0001c0002t0003g0263	11	394	0.0279	11	c.25 others(22): Show c.2518_*2519insTTTTTTTTTTT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding		2123		chr19	TogoVar
AP1M2_chr19_10567671_10592312	10577423	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	394	0.0025	11	c.889 others(24): Show c.889-78_889-68dupAAAAAAAAAAA	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	8/11			chr19	TogoVar
AP1M2_chr19_10567671_10592312	10585257	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01099.hp2 HG01346.hp2 others(9): Show HG00673.hp1 HG01099.hp2 HG01346.hp2 HG01928.hp2 HG02040.hp2 HG02698.hp2 NA18612.hp2 NA18943.hp2 NA18982.hp1 NA19003.hp1 NA19081.hp2 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0002t0001g0176 a0001c0002t0002g0025 a0001c0002t0002g0177 others(8): Show a0001c0002t0001g0176 a0001c0002t0002g0025 a0001c0002t0002g0177 a0001c0002t0002g0179 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0003g0091 a0001c0002t0003g0178 a0001c0002t0003g0180 a0001c0002t0003g0183 a0001c0002t0003g0184	12	394	0.0305	11	c.43- others(26): Show c.43-1188_43-1187insCTTTCTTTCTT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	1/11			chr19	TogoVar
AP1M2_chr19_10567671_10592312	10585320	A A	AAAAGAAA others(4): Show AAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0043 a0001c0002t0008g0043	1	394	0.0025	11	c.43- others(26): Show c.43-1251_43-1250insCTTCTTTCTTT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	1/11			chr19	TogoVar
AP1S1_chr7_101149476_101166276	101151166	A A	AAATAAAT others(4): Show AAATAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	432	0.0023	11	c.-33 others(22): Show c.-3349_-3348insAATAAATAAAT	AP1S1	ENSG00000106367.15	transcript	ENST00000337619.11	protein_coding		3309		chr7	TogoVar
AP1S2_chrX_15820806_15859813	15834479	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18991.hp2 HG02698.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	2	318	0.0063	11	c.427 others(28): Show c.427-6280_427-6279insTATATATATAT	AP1S2	ENSG00000182287.15	transcript	ENST00000672987.1	protein_coding	4/5			chrX	TogoVar
AP1S3_chr2_223750326_223842582	223756480	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0172 a0001c0001t0055g0172	1	340	0.0029	11	c.22 others(22): Show c.2234_*2235insCTTTCTTTCTT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	5/5	2234		chr2	TogoVar
AP1S3_chr2_223750326_223842582	223833882	T T	TTTATTTA others(4): Show TTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0093 a0001c0001t0033g0093	1	340	0.0029	11	c.3+3 others(24): Show c.3+3565_3+3566insTAAATAAATAA	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP2A2_chr11_920870_1017240	935603	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02165.hp2 others(10): Show HG01069.hp2 HG01071.hp2 HG02165.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02723.hp2 HG02738.hp2 NA18747.hp1 NA18970.hp1 NA18983.hp1 NA18998.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 a0001c0002t0002 a0001c0002t0003 a0001c0003t0002	a0001c0002t0002g0136 a0001c0002t0002g0217 a0001c0002t0002g0221 others(10): Show a0001c0002t0002g0136 a0001c0002t0002g0217 a0001c0002t0002g0221 a0001c0002t0003g0197 a0001c0002t0003g0198 a0001c0002t0003g0201 a0001c0003t0002g0005 a0001c0003t0002g0199 a0001c0003t0002g0200 a0001c0003t0002g0211 a0001c0003t0002g0212 a0001c0003t0002g0213 a0001c0003t0002g0215	13	268	0.0485	11	c.67+ others(26): Show c.67+9527_67+9537dupTTTTTTTTTTT	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	992015	G G	GAAGGGGA others(4): Show GAAGGGGAACCC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0083 a0001c0001t0005g0083	1	268	0.0037	11	c.127 others(28): Show c.1270-487_1270-477dupAAGGGGAACCC	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2B1_chr17_35582322_35731413	35720573	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA19085.hp1 HG02004.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0132 a0001c0001t0005g0145 a0001c0001t0005g0132 a0001c0001t0005g0145	2	372	0.0054	11	c.278 others(30): Show c.2782-3051_2782-3050insATATATATATT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35720573	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	372	0.0027	11	c.278 others(30): Show c.2782-3051_2782-3050insATATATATTTT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35720573	A A	ATATATAT others(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG04199.hp1 HG00280.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0020 a0001c0001t0003 a0001c0001t0020	a0001c0001t0003g0046 a0001c0001t0020g0153 a0001c0001t0003g0046 a0001c0001t0020g0153	2	372	0.0054	11	c.278 others(30): Show c.2782-3051_2782-3050insATATATTTTTT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2M1_chr3_184169855_184189091	184174585	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	11	c.-41 others(20): Show c.-418_-417insAAAAAAAAAAA	AP2M1	ENSG00000161203.14	transcript	ENST00000292807.9	protein_coding		269		chr3	TogoVar
AP2S1_chr19_46833167_46855846	46839286	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	424	0.0024	11	c.267 others(26): Show c.267+168_267+178dupTTTTTTTTTTT	AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding	3/4			chr19	TogoVar
AP2S1_chr19_46833167_46855846	46855092	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	424	0.0024	11	c.-43 others(22): Show c.-4327_-4326insTTTTTTTTTTT	AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding		4247		chr19	TogoVar
AP3B1_chr5_77997326_78299698	78126504	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19030.hp1 HG03130.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0007 a0001c0004 a0003c0007	a0001c0004t0002 a0003c0007t0002 a0001c0004t0002 a0003c0007t0002	a0001c0004t0002g0226 a0003c0007t0002g0081 a0001c0004t0002g0226 a0003c0007t0002g0081	2	226	0.0089	11	c.196 others(30): Show c.1968+1515_1968+1525dupTTTTTTTTTTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	17/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78169733	G G	GTTATTTA others(4): Show GTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0186 a0001c0004t0002g0186	1	226	0.0044	11	c.116 others(30): Show c.1168-4062_1168-4061insTAAATAAATAA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	11/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78298993	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG00735.hp1 others(34): Show HG00280.hp2 HG00597.hp2 HG00735.hp1 HG01070.hp1 HG01361.hp2 HG01515.hp1 HG01928.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02074.hp2 HG02083.hp2 HG02148.hp2 HG02723.hp2 HG02818.hp1 HG03516.hp1 HG03704.hp2 HG03831.hp1 NA18522.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18964.hp1 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18982.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp2 NA18992.hp1 NA18998.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0002 a0003c0007 others(2): Show a0001c0001 a0001c0002 a0003c0007 a0004c0017 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0003c0007t0002 a0004c0017t0002 a0005c0015t0001	a0001c0001t0001g0029 a0001c0001t0001g0161 a0001c0001t0001g0173 others(34): Show a0001c0001t0001g0029 a0001c0001t0001g0161 a0001c0001t0001g0173 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0033 a0001c0001t0002g0159 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0002g0131 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0143 a0001c0002t0002g0146 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0154 a0001c0002t0002g0157 a0001c0002t0002g0160 a0001c0002t0002g0162 a0001c0002t0002g0164 a0001c0002t0002g0168 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0177 a0001c0002t0002g0178 a0003c0007t0002g0140 a0003c0007t0002g0141 a0004c0017t0002g0163 a0005c0015t0001g0105	37	226	0.1637	11	c.-44 others(22): Show c.-4415_-4414insTTTTTTTTTTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding		4296		chr5	TogoVar
AP3B2_chr15_82654281_82714875	82700397	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG03490.hp1 others(2): Show HG00639.hp1 HG00735.hp2 HG03490.hp1 HG03492.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0024 a0001c0001t0002g0006 a0001c0001t0002g0007 others(2): Show a0001c0001t0001g0024 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009	5	368	0.0136	11	c.113 others(28): Show c.113+9186_113+9196dupAAAAAAAAAAA	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	1/26			chr15	TogoVar
AP3M1_chr10_74115255_74155828	74149267	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	334	0.0030	11	c.-4+ others(26): Show c.-4+1477_-4+1487dupAAAAAAAAAAA	AP3M1	ENSG00000185009.13	transcript	ENST00000355264.9	protein_coding	1/8			chr10	TogoVar
AP3M2_chr8_42148063_42176183	42166591	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01243.hp1 HG01243.hp2 HG00280.hp2 HG01243.hp1 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0106 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0106	3	392	0.0077	11	c.804 others(26): Show c.804-564_804-554dupAAAAAAAAAAA	AP3M2	ENSG00000070718.13	transcript	ENST00000396926.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
AP3S2_chr15_89825599_89898994	89858523	G G	GAGAGAGA others(4): Show GAGAGAGAAGAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0309 a0001c0001t0009g0309	1	312	0.0032	11	c.345 others(30): Show c.345+12951_345+12952insTTCTTCTCTCT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP4B1_chr1_113889194_113909799	113907204	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG03017.hp1 others(1): Show HG01891.hp2 HG02145.hp2 HG03017.hp1 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0003 a0002c0002t0003g0005 a0002c0002t0003g0012 a0002c0002t0002g0003 a0002c0002t0003g0005 a0002c0002t0003g0012	4	434	0.0092	11	c.-24 others(22): Show c.-2498_-2488dupAAAAAAAAAAA	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding		2406		chr1	TogoVar
AP4E1_chr15_50903683_51010895	50962889	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0363 a0001c0001t0004g0363	1	392	0.0026	11	c.185 others(30): Show c.1851+4112_1851+4122dupAAAAAAAAAAA	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(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01433.hp1 HG01516.hp1 others(17): Show HG01123.hp2 HG01433.hp1 HG01516.hp1 HG01884.hp2 HG02055.hp2 HG02083.hp2 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02895.hp1 HG02970.hp1 HG03098.hp1 HG03130.hp2 HG03492.hp1 HG03688.hp1 NA19043.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009	a0001c0001t0003g0308 a0001c0001t0003g0310 a0001c0001t0003g0311 others(17): Show a0001c0001t0003g0308 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0342 a0001c0001t0005g0301 a0001c0001t0005g0330 a0001c0001t0005g0333 a0001c0001t0005g0334 a0001c0001t0005g0335 a0001c0001t0005g0336 a0001c0001t0005g0340 a0001c0001t0005g0341 a0001c0001t0009g0318 a0001c0001t0009g0319 a0001c0001t0009g0320	20	392	0.0510	11	c.196 others(30): Show c.1967-6306_1967-6296dupTTTTTTTTTTT	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4M1_chr7_100096643_100114039	100099418	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03927.hp2 HG03688.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0034 a0001c0001t0014g0072 a0001c0001t0014g0034 a0001c0001t0014g0072	2	416	0.0048	11	c.-22 others(22): Show c.-2297_-2296insAAAAAAAAAAA	AP4M1	ENSG00000221838.11	transcript	ENST00000359593.9	protein_coding		2224		chr7	TogoVar
AP4S1_chr14_31020649_31101450	31083496	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0021 a0001c0001t0006g0021	1	346	0.0029	11	c.306 others(28): Show c.306+2928_306+2938dupTTTTTTTTTTT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP5M1_chr14_57263971_57303742	57300718	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0023 a0001c0002t0007g0023	1	280	0.0036	11	c.11 others(24): Show c.11834_*11835insTTTTTTTTTTT	AP5M1	ENSG00000053770.12	transcript	ENST00000261558.8	protein_coding		1977		chr14	TogoVar
AP5S1_chr20_3815547_3833838	3816995	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02970.hp2 NA20129.hp1 HG02486.hp2 HG02970.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0018 a0001c0001t0013 a0001c0001t0018	a0001c0001t0013g0012 a0001c0001t0018g0009 a0001c0001t0013g0012 a0001c0001t0018g0009	3	412	0.0073	11	c.-37 others(22): Show c.-3780_-3779insTTTTTTTTTTT	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		3551		chr20	TogoVar
AP5S1_chr20_3815547_3833838	3831679	A A	ATATATAT others(4): Show ATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 NA18522.hp1 NA18975.hp1 others(1): Show HG01169.hp1 NA18522.hp1 NA18975.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013	a0001c0001t0004g0003 a0001c0001t0005g0003 a0001c0001t0008g0003 others(1): Show a0001c0001t0004g0003 a0001c0001t0005g0003 a0001c0001t0008g0003 a0001c0001t0013g0012	4	412	0.0097	11	c.73 others(22): Show c.7382_*7383insTATATATATAT	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		2842		chr20	TogoVar
AP5S1_chr20_3815547_3833838	3831679	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0002 a0001c0001t0023g0002	1	412	0.0024	11	c.73 others(22): Show c.7382_*7383insTTTTTTTTTTT	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		2842		chr20	TogoVar
AP5S1_chr20_3815547_3833838	3832236	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG01109.hp1 others(71): Show HG00438.hp1 HG00597.hp2 HG01109.hp1 HG01515.hp1 HG01884.hp1 HG01891.hp2 HG02027.hp1 HG02074.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02647.hp1 HG02698.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG04115.hp2 NA18522.hp1 NA18612.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp2 NA18967.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18999.hp2 NA19002.hp1 NA19007.hp2 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19075.hp2 NA19077.hp2 NA19082.hp2 NA19083.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0004 a0001c0001 a0002c0002 a0006c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0039 a0001c0001t0043 a0001c0001t0045 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0062 a0002c0002t0010 a0006c0004t0056	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0036 others(30): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0036 a0001c0001t0003g0004 a0001c0001t0004g0002 a0001c0001t0004g0003 a0001c0001t0004g0032 a0001c0001t0005g0003 a0001c0001t0005g0027 a0001c0001t0006g0005 a0001c0001t0006g0006 a0001c0001t0006g0010 a0001c0001t0006g0033 a0001c0001t0006g0035 a0001c0001t0008g0003 a0001c0001t0010g0002 a0001c0001t0013g0012 a0001c0001t0014g0003 a0001c0001t0016g0002 a0001c0001t0019g0025 a0001c0001t0020g0003 a0001c0001t0021g0002 a0001c0001t0022g0002 a0001c0001t0023g0002 a0001c0001t0039g0003 a0001c0001t0043g0002 a0001c0001t0045g0004 a0001c0001t0057g0018 a0001c0001t0059g0010 a0001c0001t0060g0002 a0001c0001t0062g0002 a0002c0002t0010g0002 a0006c0004t0056g0010	74	412	0.1796	11	c.79 others(22): Show c.7939_*7940insAAAAAAAAAAA	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		3399		chr20	TogoVar
AP5S1_chr20_3815547_3833838	3832256	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG03017.hp1 HG03927.hp1 HG00558.hp1 HG03017.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0042 a0001c0001t0017 a0001c0001t0042	a0001c0001t0017g0002 a0001c0001t0042g0002 a0001c0001t0017g0002 a0001c0001t0042g0002	3	412	0.0073	11	c.79 others(22): Show c.7959_*7960insAAAAAAAAAAG	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		3419		chr20	TogoVar
APAF1_chr12_98640290_98740433	98653687	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	366	0.0027	11	c.526 others(28): Show c.526+4003_526+4004insTATATATATAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26			chr12	TogoVar
APAF1_chr12_98640290_98740433	98653689	A A	ATATATAA others(4): Show ATATATAAATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	366	0.0027	11	c.526 others(28): Show c.526+4005_526+4006insTATATAAATAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26			chr12	TogoVar
APAF1_chr12_98640290_98740433	98653689	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01516.hp2 HG02080.hp1 HG01167.hp2 HG01516.hp2 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0022 a0001c0001t0001g0271 a0001c0001t0005g0080 a0001c0001t0001g0022 a0001c0001t0001g0271 a0001c0001t0005g0080	3	366	0.0082	11	c.526 others(28): Show c.526+4005_526+4006insTATATATATAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26			chr12	TogoVar
APAF1_chr12_98640290_98740433	98653691	A A	AAATATAT others(4): Show AAATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA18987.hp1 HG02004.hp2 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0001 a0001c0001t0031	a0001c0001t0001g0011 a0001c0001t0031g0252 a0001c0001t0001g0011 a0001c0001t0031g0252	2	366	0.0055	11	c.526 others(28): Show c.526+4008_526+4009insATATATATATA	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(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA18946.hp2 HG01192.hp1 NA18946.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0260 a0004c0006t0001g0356 a0001c0001t0001g0260 a0004c0006t0001g0356	2	366	0.0055	11	c.526 others(28): Show c.526+4007_526+4008insTATATATATAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26			chr12	TogoVar
APAF1_chr12_98640290_98740433	98665278	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02976.hp1 HG03579.hp1 HG02109.hp1 HG02976.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0187 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0187 a0001c0001t0004g0193 a0001c0001t0004g0194	3	366	0.0082	11	c.956 others(26): Show c.956-274_956-273insATATATATATT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr12	TogoVar

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