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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
AP1S3_chr2_223750326_223842582	223832133	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	340	0.0029	12	c.3+5 others(25): Show c.3+5314_3+5315insCACACACACACA	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223832135	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18985.hp1 NA19070.hp2 NA18971.hp1 NA18985.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0011g0228 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0011g0228	3	340	0.0088	12	c.3+5 others(25): Show c.3+5301_3+5312dupCACACACACACA	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223832352	C C	CACAAACA others(5): Show CACAAACAAACAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0337 a0001c0001t0007g0337	1	340	0.0029	12	c.3+5 others(25): Show c.3+5084_3+5095dupTTGTTTGTTTGT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223833241	A A	AATAAATA others(5): Show AATAAATACATAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00609.hp1 others(42): Show HG00140.hp2 HG00408.hp2 HG00609.hp1 HG00738.hp1 HG01071.hp2 HG01109.hp2 HG01243.hp1 HG01433.hp1 HG01496.hp1 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02109.hp1 HG02280.hp1 HG02300.hp1 HG02523.hp1 HG02897.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03540.hp1 HG04115.hp1 HG04228.hp1 NA18942.hp1 NA18955.hp2 NA18970.hp1 NA18979.hp1 NA18980.hp1 NA18985.hp2 NA18998.hp2 NA19001.hp2 NA19007.hp1 NA19057.hp1 NA19060.hp2 NA19077.hp1 NA19080.hp2 NA19089.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0037 a0001c0001t0058 a0001c0001t0062 a0001c0001t0069	a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0055 others(42): Show a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0002g0007 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0060 a0001c0001t0002g0087 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0163 a0001c0001t0002g0330 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0052 a0001c0001t0003g0056 a0001c0001t0004g0107 a0001c0001t0004g0155 a0001c0001t0005g0324 a0001c0001t0006g0103 a0001c0001t0007g0061 a0001c0001t0010g0331 a0001c0001t0012g0099 a0001c0001t0012g0106 a0001c0001t0015g0095 a0001c0001t0016g0047 a0001c0001t0017g0096 a0001c0001t0018g0104 a0001c0001t0019g0086 a0001c0001t0022g0101 a0001c0001t0024g0054 a0001c0001t0025g0048 a0001c0001t0027g0332 a0001c0001t0027g0335 a0001c0001t0037g0105 a0001c0001t0058g0100 a0001c0001t0062g0102 a0001c0001t0069g0059	45	340	0.1324	12	c.3+4 others(25): Show c.3+4206_3+4207insGTATGTATTTAT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223833241	A A	AATACATA others(5): Show AATACATACATAC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18964.hp1 NA18977.hp1 others(2): Show NA18947.hp1 NA18964.hp1 NA18977.hp1 NA18985.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 others(2): Show a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0239	5	340	0.0147	12	c.3+4 others(25): Show c.3+4195_3+4206dupGTATGTATGTAT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223833882	T T	TTTTATTT others(5): Show TTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA18906.hp1 NA18999.hp2 HG01192.hp2 NA18906.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0026 a0001c0001t0036 a0001c0001t0003 a0001c0001t0026 a0001c0001t0036	a0001c0001t0003g0092 a0001c0001t0026g0319 a0001c0001t0036g0311 a0001c0001t0003g0092 a0001c0001t0026g0319 a0001c0001t0036g0311	3	340	0.0088	12	c.3+3 others(25): Show c.3+3554_3+3565dupTAAATAAATAAA	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP2A1_chr19_49762001_49812114	49784406	T T	TCCCAAAG others(5): Show TCCCAAAGTGCTG	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	342	0.0029	12	c.473 others(29): Show c.473+1682_473+1683insCCCAAAGTGCTG	AP2A1	ENSG00000196961.13	transcript	ENST00000354293.10	protein_coding	4/22			chr19	TogoVar
AP2A2_chr11_920870_1017240	935603	G G	GTTTTTTT others(5): Show GTTTTTTTTGTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0165 a0001c0004t0010g0165	1	268	0.0037	12	c.67+ others(27): Show c.67+9523_67+9524insGTTTTTTTTTTT	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	935603	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02523.hp2 HG02886.hp2 others(11): Show HG02027.hp1 HG02523.hp2 HG02886.hp2 HG03195.hp2 HG03831.hp1 HG06807.hp2 NA18944.hp2 NA18971.hp1 NA18986.hp2 NA18998.hp2 NA19030.hp1 NA19060.hp2 NA19070.hp2 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 others(1): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0003t0002	a0001c0002t0002g0204 a0001c0002t0002g0219 a0001c0002t0003g0202 others(11): Show a0001c0002t0002g0204 a0001c0002t0002g0219 a0001c0002t0003g0202 a0001c0002t0003g0239 a0001c0002t0012g0220 a0001c0003t0002g0193 a0001c0003t0002g0194 a0001c0003t0002g0203 a0001c0003t0002g0205 a0001c0003t0002g0206 a0001c0003t0002g0207 a0001c0003t0002g0214 a0001c0003t0002g0218 a0001c0003t0002g0259	14	268	0.0522	12	c.67+ others(27): Show c.67+9526_67+9537dupTTTTTTTTTTTT	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2B1_chr17_35582322_35731413	35583514	T T	TTTTCTCT others(5): Show TTTTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0268 a0001c0002t0001g0268	1	372	0.0027	12	c.-39 others(23): Show c.-3938_-3937insTTTCTCTCTCTC	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding		3807		chr17	TogoVar
AP2B1_chr17_35582322_35731413	35587076	A A	AAACAAAT others(5): Show AAACAAATCCATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	372	0.0027	12	c.-37 others(21): Show c.-376_-375insAACAAATCCATT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding		245		chr17	TogoVar
AP2B1_chr17_35582322_35731413	35648743	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01257.hp2 HG01258.hp2 others(11): Show HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01884.hp1 HG02896.hp1 HG02970.hp1 HG03453.hp2 HG03486.hp1 HG03704.hp2 NA18906.hp1 NA18949.hp2 NA19080.hp1 NA19084.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0012 a0001c0002t0001 a0001c0002t0012	a0001c0002t0001g0003 a0001c0002t0001g0186 a0001c0002t0001g0193 others(10): Show a0001c0002t0001g0003 a0001c0002t0001g0186 a0001c0002t0001g0193 a0001c0002t0001g0221 a0001c0002t0001g0232 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0279 a0001c0002t0001g0282 a0001c0002t0001g0285 a0001c0002t0001g0313 a0001c0002t0001g0315 a0001c0002t0012g0215	14	372	0.0376	12	c.153 others(31): Show c.1537-1767_1537-1756dupTGTGTGTGTGTG	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35720545	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	372	0.0027	12	c.278 others(31): Show c.2782-3062_2782-3051dupATATATATATAT	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(5): Show ATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 NA18971.hp1 others(1): Show HG01070.hp1 HG01071.hp1 NA18971.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0021 a0001c0001t0003 a0001c0001t0005 a0001c0001t0021	a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0005g0146 others(1): Show a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0005g0146 a0001c0001t0021g0137	4	372	0.0108	12	c.278 others(31): Show c.2782-3051_2782-3050insATATATATTTTT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP3B1_chr5_77997326_78299698	78068358	A A	AAGAAGGA others(5): Show AAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18522.hp2 NA18906.hp2 HG01884.hp2 NA18522.hp2 NA18906.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0035 a0003c0008t0002g0036 a0003c0008t0002g0039 a0003c0008t0002g0035 a0003c0008t0002g0036 a0003c0008t0002g0039	3	226	0.0133	12	c.257 others(33): Show c.2577+21023_2577+21034dupCCTTCTCCTTCT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	22/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78126504	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0140 a0003c0007t0002g0140	1	226	0.0044	12	c.196 others(31): Show c.1968+1514_1968+1525dupTTTTTTTTTTTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	17/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78134149	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0001 a0001c0004t0002g0001	1	226	0.0044	12	c.165 others(31): Show c.1651-4854_1651-4843dupTTTTTTTTTTTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	15/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78144829	T T	TTTGTTGT others(5): Show TTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02015.hp2 HG02083.hp2 others(16): Show HG00597.hp2 HG02015.hp2 HG02083.hp2 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG03130.hp1 HG03139.hp1 HG03654.hp1 HG06807.hp1 NA18949.hp2 NA18950.hp1 NA18978.hp2 NA18982.hp1 NA18987.hp2 NA18988.hp2 NA19030.hp1 NA19074.hp1 NA20905.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0002 a0001c0012 a0003c0007 others(1): Show a0001c0002 a0001c0012 a0003c0007 a0008c0011	a0001c0002t0001 a0001c0002t0002 a0001c0012t0001 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0012t0001 a0003c0007t0002 a0008c0011t0002	a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 others(16): Show a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0002g0143 a0001c0002t0002g0146 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0160 a0001c0002t0002g0162 a0001c0012t0001g0142 a0003c0007t0002g0072 a0003c0007t0002g0079 a0003c0007t0002g0081 a0003c0007t0002g0140 a0003c0007t0002g0141 a0008c0011t0002g0165	19	226	0.0841	12	c.147 others(31): Show c.1474-3522_1474-3511dupCAACAACAACAA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	14/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78144844	G G	GTTGTTGT others(5): Show GTTGTTGTTGTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00735.hp1 others(26): Show HG00280.hp2 HG00639.hp1 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01106.hp1 HG01175.hp1 HG01361.hp2 HG01515.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02148.hp2 HG02602.hp1 HG02738.hp1 HG04199.hp2 NA18947.hp1 NA18956.hp2 NA18964.hp1 NA18969.hp1 NA18971.hp1 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA19064.hp2 NA19070.hp1 NA19081.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0017 a0001c0002 a0004c0017	a0001c0002t0001 a0001c0002t0002 a0004c0017t0002 a0001c0002t0001 a0001c0002t0002 a0004c0017t0002	a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0002g0064 others(26): Show a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0002g0064 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0164 a0001c0002t0002g0166 a0001c0002t0002g0168 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0004c0017t0002g0163	29	226	0.1283	12	c.147 others(31): Show c.1474-3526_1474-3525insAAACAACAACAA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	14/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78202552	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02738.hp1 NA18950.hp1 others(1): Show HG01943.hp2 HG02738.hp1 NA18950.hp1 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0154 a0001c0002t0002g0156 a0001c0002t0002g0162 others(1): Show a0001c0002t0002g0154 a0001c0002t0002g0156 a0001c0002t0002g0162 a0001c0002t0002g0179	4	226	0.0177	12	c.786 others(31): Show c.786+13491_786+13502dupACACACACACAC	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78243273	C C	CCATTCAT others(5): Show CCATTCATTCATT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0195 a0001c0005t0001g0195	1	226	0.0044	12	c.205 others(29): Show c.205-2349_205-2338dupAATGAATGAATG	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	2/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78298993	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01106.hp1 HG01175.hp1 others(13): Show HG00639.hp1 HG01106.hp1 HG01175.hp1 HG02135.hp1 HG02602.hp1 HG02738.hp1 HG03654.hp1 HG04199.hp2 HG06807.hp1 NA18956.hp2 NA18978.hp2 NA18979.hp1 NA18989.hp1 NA19002.hp2 NA19064.hp2 NA20905.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0011 a0001c0001 a0001c0002 a0008c0011	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0008c0011t0002	a0001c0001t0002g0015 a0001c0002t0001g0138 a0001c0002t0001g0139 others(13): Show a0001c0001t0002g0015 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0184 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0137 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0155 a0001c0002t0002g0158 a0001c0002t0002g0166 a0001c0002t0002g0169 a0001c0002t0002g0176 a0001c0002t0002g0179 a0008c0011t0002g0165	16	226	0.0708	12	c.-44 others(23): Show c.-4415_-4414insTTTTTTTTTTTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding		4296		chr5	TogoVar
AP3B2_chr15_82654281_82714875	82665376	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02886.hp2 HG02602.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0307 a0001c0001t0001g0257 a0001c0001t0001g0307	2	368	0.0054	12	c.197 others(27): Show c.1971+69_1972-74dupGTGTGTGTGTGT	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	16/26			chr15	TogoVar
AP3B2_chr15_82654281_82714875	82700397	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	368	0.0027	12	c.113 others(29): Show c.113+9185_113+9196dupAAAAAAAAAAAA	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	1/26			chr15	TogoVar
AP3M1_chr10_74115255_74155828	74115387	G G	GATAAATA others(5): Show GATAAATAAATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0093 a0001c0001t0008g0093	1	334	0.0030	12	c.84 others(23): Show c.8411_*8422dupTTATTTATTTAT	AP3M1	ENSG00000185009.13	transcript	ENST00000355264.9	protein_coding		4867		chr10	TogoVar
AP3M2_chr8_42148063_42176183	42153871	A A	ACCCATAC others(5): Show ACCCATACCCCCC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0154 a0001c0001t0003g0154	1	392	0.0026	12	c.-72 others(27): Show c.-72-742_-72-741insATACCCCCCCCC	AP3M2	ENSG00000070718.13	transcript	ENST00000396926.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
AP3M2_chr8_42148063_42176183	42166591	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00733.hp2 others(50): Show HG00140.hp1 HG00323.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01074.hp2 HG01256.hp2 HG01257.hp2 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01993.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02155.hp2 HG02698.hp2 HG02922.hp2 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG04184.hp2 NA18612.hp1 NA18906.hp1 NA18946.hp1 NA18951.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18966.hp2 NA18970.hp2 NA18974.hp2 NA18975.hp2 NA18984.hp2 NA18987.hp1 NA18998.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0002t0005	a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0039 others(25): Show a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0052 a0001c0001t0002g0098 a0001c0001t0002g0103 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0005g0022 a0001c0001t0005g0036 a0001c0001t0005g0138 a0001c0001t0009g0029 a0001c0001t0010g0005 a0001c0001t0010g0007 a0001c0001t0010g0054 a0001c0001t0016g0005 a0001c0001t0020g0005 a0001c0001t0021g0105 a0001c0002t0005g0022	53	392	0.1352	12	c.804 others(27): Show c.804-565_804-554dupAAAAAAAAAAAA	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(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03139.hp2 NA18906.hp1 HG01243.hp2 HG03139.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0002c0002t0001g0230 a0001c0001t0001g0029 a0001c0001t0001g0030 a0002c0002t0001g0230	3	378	0.0079	12	c.69+ others(27): Show c.69+3757_69+3768dupAAAAAAAAAAAA	AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
AP3S1_chr5_115836935_115919081	115855019	A A	ATATCTAT others(5): Show ATATCTATCTATC	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA19055.hp1 HG03540.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0102 a0001c0001t0001g0055 a0001c0001t0001g0102	2	378	0.0053	12	c.70- others(29): Show c.70-11617_70-11606dupATCTATCTATCT	AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
AP3S1_chr5_115836935_115919081	115868893	G G	GAGAGAGA others(5): Show GAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00609.hp2 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03704.hp2 HG03831.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp2 NA18967.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18992.hp1 NA18993.hp1 NA18995.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19054.hp2 NA19055.hp2 NA19063.hp2 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19077.hp2 NA19083.hp1 NA19085.hp2 NA19087.hp1 NA19089.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(134): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0061 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0156 a0001c0001t0001g0191 a0001c0001t0001g0199 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0002g0233 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0092 a0001c0001t0003g0157 a0001c0001t0004g0197 a0001c0001t0004g0351 a0001c0001t0005g0216 a0002c0002t0001g0229 a0002c0002t0001g0230	151	378	0.3995	12	c.162 others(29): Show c.162-1118_162-1107dupGAGAGACAGAGA	AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
AP3S1_chr5_115836935_115919081	115868943	A A	AAGGGAGG others(5): Show AAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0352 a0001c0001t0001g0352	1	378	0.0027	12	c.162 others(29): Show c.162-1071_162-1070insGAGGGAGGGAGG	AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
AP3S2_chr15_89825599_89898994	89858523	G G	GAGAAAGA others(5): Show GAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA19064.hp1 HG00323.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0065 a0001c0001t0001g0030 a0001c0001t0001g0065	2	312	0.0064	12	c.345 others(31): Show c.345+12940_345+12951dupTTCTTTCTTTCT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858523	G G	GAGAGAGA others(5): Show GAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18960.hp2 NA18995.hp2 others(2): Show HG02071.hp2 NA18960.hp2 NA18995.hp2 NA19068.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0024 a0001c0001t0001 a0001c0001t0003 a0001c0001t0024	a0001c0001t0001g0070 a0001c0001t0001g0142 a0001c0001t0003g0127 others(2): Show a0001c0001t0001g0070 a0001c0001t0001g0142 a0001c0001t0003g0127 a0001c0001t0003g0141 a0001c0001t0024g0109	5	312	0.0160	12	c.345 others(31): Show c.345+12951_345+12952insTTCTTTCTCTCT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858523	G G	GAGAGAGA others(5): Show GAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0102	1	312	0.0032	12	c.345 others(31): Show c.345+12951_345+12952insTTCTCTCTCTCT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP4B1_chr1_113889194_113909799	113907204	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0012 a0002c0002t0003g0012	1	434	0.0023	12	c.-24 others(23): Show c.-2499_-2488dupAAAAAAAAAAAA	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding		2406		chr1	TogoVar
AP4E1_chr15_50903683_51010895	50964955	C C	CCACACAC others(5): Show CCACACACACACA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01081.hp1 others(23): Show HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01175.hp1 HG01256.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01975.hp1 HG01993.hp2 HG02040.hp2 HG02280.hp1 HG02630.hp2 HG02897.hp1 HG03490.hp1 HG03831.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp1 NA18961.hp2 NA18966.hp1 NA18980.hp2 NA18981.hp1 NA19000.hp1 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0004 a0001c0001t0005 a0002c0002t0002 others(1): Show a0001c0001t0004 a0001c0001t0005 a0002c0002t0002 a0002c0003t0003	a0001c0001t0004g0358 a0001c0001t0004g0366 a0001c0001t0004g0367 others(23): Show a0001c0001t0004g0358 a0001c0001t0004g0366 a0001c0001t0004g0367 a0001c0001t0004g0369 a0001c0001t0004g0370 a0001c0001t0004g0373 a0001c0001t0004g0374 a0001c0001t0004g0375 a0001c0001t0004g0380 a0001c0001t0004g0384 a0001c0001t0004g0388 a0001c0001t0005g0333 a0002c0002t0002g0012 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0039 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0064 a0002c0002t0002g0072 a0002c0002t0002g0080 a0002c0002t0002g0090 a0002c0002t0002g0092 a0002c0002t0002g0121 a0002c0003t0003g0170	26	392	0.0663	12	c.185 others(31): Show c.1852-3282_1852-3271dupACACACACACAC	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(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01255.hp1 HG02647.hp2 others(9): Show HG01109.hp1 HG01255.hp1 HG02647.hp2 HG02738.hp2 HG03209.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03927.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0007c0011 a0008c0013 a0001c0001 a0007c0011 a0008c0013	a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0007c0011t0005 a0008c0013t0005	a0001c0001t0003g0309 a0001c0001t0003g0312 a0001c0001t0003g0327 others(9): Show a0001c0001t0003g0309 a0001c0001t0003g0312 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0005g0306 a0001c0001t0005g0321 a0001c0001t0005g0331 a0001c0001t0005g0332 a0001c0001t0005g0338 a0001c0001t0009g0337 a0007c0011t0005g0339 a0008c0013t0005g0329	12	392	0.0306	12	c.196 others(31): Show c.1967-6307_1967-6296dupTTTTTTTTTTTT	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(5): Show TTTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01175.hp2 HG01192.hp2 others(33): Show HG00438.hp2 HG01175.hp2 HG01192.hp2 HG01496.hp1 HG02145.hp2 HG02698.hp2 HG02818.hp1 HG02895.hp1 HG02922.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03540.hp1 HG03579.hp2 HG04115.hp1 HG04184.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18955.hp2 NA18956.hp1 NA18962.hp2 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18987.hp1 NA18990.hp1 NA19000.hp1 NA19004.hp2 NA19067.hp2 NA19075.hp2 NA19081.hp2 NA19086.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0010 a0002c0002 others(2): Show a0001c0001 a0001c0010 a0002c0002 a0002c0003 a0003c0004	a0001c0001t0005 a0001c0001t0009 a0001c0001t0029 others(5): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0029 a0001c0010t0002 a0002c0002t0002 a0002c0003t0003 a0002c0003t0014 a0003c0004t0018	a0001c0001t0005g0302 a0001c0001t0005g0305 a0001c0001t0009g0318 others(33): Show a0001c0001t0005g0302 a0001c0001t0005g0305 a0001c0001t0009g0318 a0001c0001t0009g0320 a0001c0001t0009g0337 a0001c0001t0029g0304 a0001c0010t0002g0355 a0002c0002t0002g0037 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0072 a0002c0002t0002g0080 a0002c0002t0002g0083 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0100 a0002c0002t0002g0104 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0003t0003g0148 a0002c0003t0003g0153 a0002c0003t0003g0167 a0002c0003t0014g0017 a0002c0003t0014g0018 a0003c0004t0018g0019 a0003c0004t0018g0020	36	392	0.0918	12	c.209 others(31): Show c.2091-3005_2091-2994dupATTATTATTATT	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50990360	T T	TTATTATT others(5): Show TTATTATTATTAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0002 a0010c0008t0002	a0010c0008t0002g0005 a0010c0008t0002g0005	1	392	0.0026	12	c.209 others(31): Show c.2091-2999_2091-2998insCTATTATTATTA	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(5): Show CAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG02809.hp1 NA19043.hp2 HG01081.hp2 HG02809.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0068 a0001c0001t0003g0020 a0001c0001t0003g0068	3	416	0.0072	12	c.-22 others(23): Show c.-2297_-2296insAAAAAAAAAAAA	AP4M1	ENSG00000221838.11	transcript	ENST00000359593.9	protein_coding		2224		chr7	TogoVar
AP4S1_chr14_31020649_31101450	31049428	A A	AAAAAAAA others(5): Show AAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0148	1	346	0.0029	12	c.-71 others(31): Show c.-71-16697_-71-16696insAAAAAATATATA	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31049428	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0101 a0001c0001t0018g0101	1	346	0.0029	12	c.-71 others(31): Show c.-71-16675_-71-16664dupATATATATATAT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31049474	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA20805.hp2 HG04115.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0281 a0001c0001t0001g0252 a0001c0001t0001g0281	2	346	0.0058	12	c.-71 others(31): Show c.-71-16628_-71-16617dupCACACACACACA	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31058527	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	346	0.0029	12	c.-71 others(29): Show c.-71-7561_-71-7550dupGTGTGTGTGTGT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31083496	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02280.hp1 others(4): Show HG01884.hp1 HG02257.hp1 HG02280.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0031 a0001c0001t0001 a0001c0001t0006 a0001c0001t0031	a0001c0001t0001g0005 a0001c0001t0006g0015 a0001c0001t0006g0018 others(4): Show a0001c0001t0001g0005 a0001c0001t0006g0015 a0001c0001t0006g0018 a0001c0001t0006g0019 a0001c0001t0006g0020 a0001c0001t0006g0328 a0001c0001t0031g0326	7	346	0.0202	12	c.306 others(29): Show c.306+2927_306+2938dupTTTTTTTTTTTT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31096676	C C	CATATATA others(5): Show CATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG04184.hp1 HG03704.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0208 a0001c0001t0007g0266 a0001c0001t0007g0208 a0001c0001t0007g0266	2	346	0.0058	12	c.36 others(23): Show c.3641_*3642insATATATATATAT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding		227		chr14	TogoVar
AP5S1_chr20_3815547_3833838	3816995	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0009 a0001c0001t0018g0009	1	412	0.0024	12	c.-37 others(23): Show c.-3780_-3779insTTTTTTTTTTTT	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		3551		chr20	TogoVar
AP5S1_chr20_3815547_3833838	3831665	G G	GTATATAT others(5): Show GTATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG02027.hp1 HG02074.hp2 others(12): Show HG00544.hp2 HG02027.hp1 HG02074.hp2 HG02486.hp1 HG02523.hp1 HG02970.hp2 HG02976.hp2 NA18939.hp2 NA18951.hp1 NA18967.hp1 NA18971.hp2 NA18982.hp2 NA19065.hp1 NA19079.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 others(1): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0055	a0001c0001t0005g0003 a0001c0001t0005g0027 a0001c0001t0013g0012 others(2): Show a0001c0001t0005g0003 a0001c0001t0005g0027 a0001c0001t0013g0012 a0001c0001t0014g0003 a0001c0001t0055g0005	15	412	0.0364	12	c.73 others(23): Show c.7368_*7369insTATATATATATA	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		2828		chr20	TogoVar
AP5S1_chr20_3815547_3833838	3831665	G G	GTGTATAT others(5): Show GTGTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	12	c.73 others(23): Show c.7368_*7369insTGTATATATATA	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		2828		chr20	TogoVar
AP5S1_chr20_3815547_3833838	3831665	G G	GTGTGTAT others(5): Show GTGTGTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(43): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00735.hp2 HG02080.hp1 HG02155.hp1 HG02165.hp1 HG02293.hp2 HG02451.hp2 HG02698.hp1 HG02738.hp1 HG03017.hp1 HG03041.hp1 HG03579.hp2 HG03688.hp2 NA18612.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp2 NA18949.hp2 NA18954.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18994.hp1 NA18999.hp2 NA19002.hp1 NA19007.hp2 NA19063.hp1 NA19065.hp2 NA19077.hp2 NA19080.hp1 NA19091.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0036 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0005c0006t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0014 others(17): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0036 a0001c0001t0003g0004 a0001c0001t0004g0002 a0001c0001t0004g0032 a0001c0001t0006g0006 a0001c0001t0010g0002 a0001c0001t0016g0002 a0001c0001t0017g0002 a0001c0001t0021g0002 a0001c0001t0022g0002 a0001c0001t0023g0002 a0001c0001t0036g0002 a0001c0001t0041g0002 a0001c0001t0042g0002 a0001c0001t0043g0002 a0001c0001t0045g0004 a0005c0006t0002g0002	46	412	0.1117	12	c.73 others(23): Show c.7368_*7369insTGTGTATATATA	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		2828		chr20	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)