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
ANKS1B_chr12_98738974_99989936	99271693	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0029 a0001c0002t0002g0029	1	48	0.0208	19	c.175 others(40): Show c.1757-24830_1757-24829insTATATATATATATATATAT	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	12/26			chr12	TogoVar
ANKS1B_chr12_98738974_99989936	99333854	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0044 a0001c0001t0022g0044	1	48	0.0208	19	c.175 others(40): Show c.1756+65758_1756+65776dupAAAAAAAAAAAAAAAAAAA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	12/26			chr12	TogoVar
ANKS3_chr16_4691511_4739271	4714990	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02970.hp1 HG03516.hp2 others(1): Show HG02257.hp2 HG02970.hp1 HG03516.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0008 a0002c0004t0006 a0001c0001t0008 a0002c0004t0006	a0001c0001t0008g0344 a0002c0004t0006g0017 a0002c0004t0006g0351 a0001c0001t0008g0344 a0002c0004t0006g0017 a0002c0004t0006g0351	4	374	0.0107	19	c.574 others(34): Show c.574-823_574-805dupTTTTTTTTTTTTTTTTTTT	ANKS3	ENSG00000168096.15	transcript	ENST00000304283.9	protein_coding	6/17			chr16	TogoVar
ANKS6_chr9_98727009_98801555	98739758	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18991.hp2 HG00597.hp1 NA18991.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0010 a0004c0007t0010	a0004c0007t0010g0284 a0004c0007t0010g0286 a0004c0007t0010g0284 a0004c0007t0010g0286	2	348	0.0058	19	c.251 others(38): Show c.2512-3136_2512-3135insAAAAAAAAAAAAAAAAAAA	ANKS6	ENSG00000165138.18	transcript	ENST00000353234.5	protein_coding	14/14			chr9	TogoVar
ANO10_chr3_43360848_43627011	43432944	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0166 a0002c0002t0001g0166	1	224	0.0045	19	c.179 others(36): Show c.1798-236_1798-218dupAAAAAAAAAAAAAAAAAAA	ANO10	ENSG00000160746.13	transcript	ENST00000292246.8	protein_coding	11/12			chr3	TogoVar
ANO1_chr11_70073317_70194530	70192538	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0180 a0003c0014t0001g0180	1	302	0.0033	19	c.45 others(30): Show c.4534_*4535insAAAAAAAAAAAATATATAT	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding		3009		chr11	TogoVar
ANO2_chr12_5557655_5950259	5610983	T T	TTTTTTTG others(12): Show TTTTTTTGCTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp2 HG02451.hp1 HG03195.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0002 a0002c0003t0001 a0002c0003t0002	a0002c0003t0001g0025 a0002c0003t0002g0147 a0002c0003t0001g0025 a0002c0003t0002g0147	2	162	0.0124	19	c.208 others(38): Show c.2087+1672_2087+1673insCAAAAAAAAAAGCAAAAAA	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	19/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5902694	G G	GGGGGGAG others(12): Show GGGGGGAGGGGAGGGGAGGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0074 a0001c0024t0001g0074	1	162	0.0062	19	c.534 others(38): Show c.534+18327_534+18345dupTCCTCCCCTCCCCTCCCCC	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	3/24			chr12	TogoVar
ANO3_chr11_26327130_26668289	26658124	C C	CATTTTGA others(12): Show CATTTTGAGTTTATTTTTGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00558.hp2 others(91): Show HG00140.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01952.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp1 HG03704.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18942.hp1 NA18942.hp2 NA18949.hp2 NA18955.hp2 NA18957.hp1 NA18963.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp2 NA19002.hp2 NA19009.hp2 NA19011.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19084.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 others(5): Show a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0011 a0001c0012 a0001c0014 a0001c0017	a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 others(24): Show a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0014 a0001c0002t0022 a0001c0002t0028 a0001c0002t0029 a0001c0003t0002 a0001c0003t0007 a0001c0003t0008 a0001c0003t0021 a0001c0005t0005 a0001c0005t0006 a0001c0005t0012 a0001c0005t0026 a0001c0006t0005 a0001c0006t0006 a0001c0006t0012 a0001c0006t0013 a0001c0006t0016 a0001c0006t0025 a0001c0006t0030 a0001c0011t0002 a0001c0012t0007 a0001c0014t0006 a0001c0017t0024	a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0033 others(91): Show a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0033 a0001c0002t0002g0043 a0001c0002t0002g0049 a0001c0002t0002g0056 a0001c0002t0002g0058 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0072 a0001c0002t0002g0088 a0001c0002t0002g0097 a0001c0002t0002g0104 a0001c0002t0002g0119 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0188 a0001c0002t0007g0083 a0001c0002t0007g0138 a0001c0002t0008g0178 a0001c0002t0011g0108 a0001c0002t0011g0113 a0001c0002t0011g0114 a0001c0002t0011g0141 a0001c0002t0011g0142 a0001c0002t0014g0022 a0001c0002t0014g0023 a0001c0002t0022g0047 a0001c0002t0028g0154 a0001c0002t0029g0112 a0001c0003t0002g0003 a0001c0003t0002g0036 a0001c0003t0002g0037 a0001c0003t0002g0044 a0001c0003t0002g0045 a0001c0003t0002g0046 a0001c0003t0002g0055 a0001c0003t0002g0057 a0001c0003t0002g0106 a0001c0003t0002g0158 a0001c0003t0002g0174 a0001c0003t0002g0184 a0001c0003t0002g0185 a0001c0003t0007g0070 a0001c0003t0007g0100 a0001c0003t0007g0149 a0001c0003t0007g0150 a0001c0003t0007g0183 a0001c0003t0007g0186 a0001c0003t0008g0010 a0001c0003t0008g0074 a0001c0003t0008g0111 a0001c0003t0008g0156 a0001c0003t0008g0159 a0001c0003t0021g0007 a0001c0005t0005g0004 a0001c0005t0005g0005 a0001c0005t0005g0006 a0001c0005t0005g0019 a0001c0005t0005g0029 a0001c0005t0005g0032 a0001c0005t0005g0034 a0001c0005t0005g0039 a0001c0005t0005g0041 a0001c0005t0005g0170 a0001c0005t0005g0187 a0001c0005t0006g0085 a0001c0005t0006g0109 a0001c0005t0006g0144 a0001c0005t0006g0155 a0001c0005t0012g0062 a0001c0005t0012g0175 a0001c0005t0026g0161 a0001c0006t0005g0042 a0001c0006t0005g0096 a0001c0006t0005g0136 a0001c0006t0006g0065 a0001c0006t0006g0086 a0001c0006t0006g0107 a0001c0006t0006g0135 a0001c0006t0006g0164 a0001c0006t0012g0027 a0001c0006t0012g0180 a0001c0006t0013g0012 a0001c0006t0013g0013 a0001c0006t0016g0015 a0001c0006t0025g0060 a0001c0006t0030g0176 a0001c0011t0002g0075 a0001c0012t0007g0153 a0001c0014t0006g0126 a0001c0017t0024g0147	94	190	0.4947	19	c.276 others(38): Show c.2763+1647_2763+1648insTGAGTTTATTTTTGAATTT	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO4_chr12_100789776_101133629	101080865	G G	GATATATA others(12): Show GATATATATATATATTATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01081.hp1 HG01515.hp2 others(4): Show HG00280.hp1 HG01081.hp1 HG01515.hp2 HG01517.hp2 NA18980.hp2 NA19007.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0135 others(4): Show a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0135 a0001c0001t0001g0217 a0001c0003t0001g0073 a0001c0003t0001g0195 a0001c0003t0001g0202	7	236	0.0297	19	c.139 others(38): Show c.1395+1604_1395+1605insTATATATATATATATATAT	ANO4	ENSG00000151572.18	transcript	ENST00000392977.8	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO6_chr12_45211095_45437349	45255818	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01952.hp1 HG02622.hp2 others(3): Show HG01934.hp1 HG01952.hp1 HG02622.hp2 NA18941.hp1 NA18994.hp1 NA20905.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0007 a0010c0014 a0001c0001 a0001c0007 a0010c0014	a0001c0001t0003 a0001c0007t0013 a0010c0014t0003 a0001c0001t0003 a0001c0007t0013 a0010c0014t0003	a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 others(3): Show a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0007t0013g0234 a0010c0014t0003g0163	6	234	0.0256	19	c.70+ others(36): Show c.70+39429_70+39447dupTTTTTTTTTTTTTTTTTTT	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANOS1_chrX_8523874_8737137	8610033	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAACAAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01258.hp1 HG01346.hp2 HG00642.hp1 HG01258.hp1 HG01346.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0002c0002t0003 a0001c0001t0002 a0002c0002t0002 a0002c0002t0003	a0001c0001t0002g0195 a0002c0002t0002g0174 a0002c0002t0003g0176 a0001c0001t0002g0195 a0002c0002t0002g0174 a0002c0002t0003g0176	3	231	0.0130	19	c.319 others(38): Show c.319-12778_319-12777insGTTGTTTTTTTTTTTTTTT	ANOS1	ENSG00000011201.12	transcript	ENST00000262648.8	protein_coding	3/13			chrX	TogoVar
ANTXR2_chr4_79896146_80078229	79897165	G G	GAGGGAGG others(12): Show GAGGGAGGGAGGGAGGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01099.hp2 HG01257.hp1 others(17): Show HG00423.hp1 HG01099.hp2 HG01257.hp1 HG02004.hp1 HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02559.hp2 HG02886.hp1 HG02895.hp1 HG03516.hp2 HG03579.hp2 HG03704.hp2 NA19012.hp2 NA19055.hp1 NA19064.hp1 NA19240.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0028 a0001c0001t0029 a0001c0001t0044 others(9): Show a0001c0001t0028 a0001c0001t0029 a0001c0001t0044 a0001c0001t0051 a0001c0001t0054 a0001c0001t0070 a0001c0003t0011 a0001c0003t0027 a0001c0003t0030 a0001c0003t0063 a0002c0002t0028 a0002c0002t0031	a0001c0001t0028g0071 a0001c0001t0029g0123 a0001c0001t0029g0124 others(17): Show a0001c0001t0028g0071 a0001c0001t0029g0123 a0001c0001t0029g0124 a0001c0001t0044g0036 a0001c0001t0051g0098 a0001c0001t0054g0159 a0001c0001t0070g0203 a0001c0003t0011g0116 a0001c0003t0011g0117 a0001c0003t0011g0132 a0001c0003t0011g0133 a0001c0003t0011g0134 a0001c0003t0027g0007 a0001c0003t0027g0019 a0001c0003t0030g0248 a0001c0003t0030g0251 a0001c0003t0063g0173 a0002c0002t0028g0072 a0002c0002t0031g0229 a0002c0002t0031g0230	20	268	0.0746	19	c.10 others(32): Show c.10263_*10264insACTCCCTCCCTCCCTCCCT	ANTXR2	ENSG00000163297.18	transcript	ENST00000403729.7	protein_coding		3980		chr4	TogoVar
ANXA10_chr4_168087537_168192736	168182318	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02970.hp1 HG02723.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0235 a0001c0003t0001g0022 a0001c0001t0001g0235 a0001c0003t0001g0022	2	284	0.0070	19	c.783 others(34): Show c.783+589_783+607dupTTTTTTTTTTTTTTTTTTT	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA2_chr15_60342151_60402986	60349814	A A	AGGAAGGA others(12): Show AGGAAGGAAAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01256.hp2 HG01496.hp2 others(1): Show HG00735.hp1 HG01256.hp2 HG01496.hp2 HG01943.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0097 a0001c0003t0001g0127 a0001c0003t0001g0134 others(1): Show a0001c0003t0001g0097 a0001c0003t0001g0127 a0001c0003t0001g0134 a0001c0003t0001g0135	4	334	0.0120	19	c.838 others(34): Show c.838-636_838-618dupCCTCCCTCCCTTTCCTTCC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60368316	A A	AAAATAAA others(12): Show AAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	334	0.0030	19	c.149 others(36): Show c.149-3794_149-3793insATTTTATTTTATTTTATTT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
ANXA3_chr4_78546770_78615447	78578330	A A	AGAGAGAG others(12): Show AGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19084.hp2 HG06807.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0299 a0001c0001t0001g0130 a0001c0001t0001g0299	2	330	0.0061	19	c.104 others(34): Show c.104-697_104-696insGAGAGAGAGAGAGAGAGAG	ANXA3	ENSG00000138772.13	transcript	ENST00000264908.11	protein_coding	3/12			chr4	TogoVar
ANXA7_chr10_73370101_73419058	73416109	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	264	0.0038	19	c.-21 others(30): Show c.-2100_-2099insAAAAAAAAAAAAAAAAAAA	ANXA7	ENSG00000138279.16	transcript	ENST00000372921.10	protein_coding		2052		chr10	TogoVar
AOAH_chr7_36507941_36729494	36543947	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	306	0.0033	19	c.113 others(38): Show c.1134-3457_1134-3456insAAAAAAAGAAAGAAAGAAA	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	15/20			chr7	TogoVar
AOX1_chr2_200581014_200676495	200588726	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp2 HG00673.hp1 others(43): Show HG00408.hp2 HG00639.hp2 HG00673.hp1 HG01123.hp2 HG01169.hp1 HG01243.hp1 HG01515.hp1 HG01517.hp1 HG02055.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG02602.hp2 HG02615.hp2 HG02683.hp2 HG02809.hp2 HG03486.hp2 HG03579.hp1 HG03831.hp1 HG04228.hp2 NA18939.hp1 NA18945.hp1 NA18950.hp2 NA18952.hp1 NA18965.hp2 NA18969.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18984.hp1 NA18999.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp2 NA19030.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19082.hp1 NA19085.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0009 a0011	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0007 a0009c0028 a0011c0023	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0002c0002t0007 a0003c0003t0001 a0003c0003t0006 a0004c0004t0001 a0005c0007t0002 a0009c0028t0001 a0011c0023t0001	a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 others(43): Show a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0282 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0002g0239 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0002g0253 a0001c0001t0002g0309 a0001c0001t0002g0311 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0325 a0001c0001t0002g0328 a0001c0001t0002g0360 a0002c0002t0003g0367 a0002c0002t0007g0252 a0003c0003t0001g0245 a0003c0003t0001g0248 a0003c0003t0001g0249 a0003c0003t0001g0250 a0003c0003t0006g0329 a0004c0004t0001g0327 a0005c0007t0002g0240 a0005c0007t0002g0242 a0009c0028t0001g0313 a0011c0023t0001g0251	46	370	0.1243	19	c.45+ others(34): Show c.45+2576_45+2594dupTTTTTTTTTTTTTTTTTTT	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AOX1_chr2_200581014_200676495	200657165	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0340	1	370	0.0027	19	c.317 others(36): Show c.3171+229_3171+230insAAAAAAAAAAAAATATATA	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AOX1_chr2_200581014_200676495	200657165	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18948.hp1 NA19057.hp2 others(1): Show HG02056.hp1 NA18948.hp1 NA19057.hp2 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0229 a0001c0001t0001g0266 a0001c0001t0001g0321 others(1): Show a0001c0001t0001g0229 a0001c0001t0001g0266 a0001c0001t0001g0321 a0002c0002t0002g0204	4	370	0.0108	19	c.317 others(36): Show c.3171+229_3171+230insAAAAAAAAAAATATATATA	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AOX1_chr2_200581014_200676495	200657190	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0226 a0003c0003t0001g0226	1	370	0.0027	19	c.317 others(36): Show c.3171+254_3171+255insATATATATATATATATATT	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AP1M2_chr19_10567671_10592312	10570547	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG02451.hp2 HG01070.hp1 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0137 a0001c0002t0002g0166 a0001c0002t0002g0137 a0001c0002t0002g0166	2	394	0.0051	19	c.25 others(30): Show c.2518_*2519insTTTTTTTTTTTTTTTTTTT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding		2123		chr19	TogoVar
AP1S2_chrX_15820806_15859813	15834479	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02280.hp2 HG02897.hp2 others(5): Show HG01168.hp1 HG02280.hp2 HG02897.hp2 HG04184.hp2 NA18945.hp1 NA19072.hp1 NA19074.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0001t0001 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0142 a0001c0001t0001g0174 a0001c0001t0001g0175 others(5): Show a0001c0001t0001g0142 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0207 a0001c0001t0008g0176 a0001c0002t0001g0138	8	318	0.0252	19	c.427 others(36): Show c.427-6280_427-6279insTATATATATATATATATAT	AP1S2	ENSG00000182287.15	transcript	ENST00000672987.1	protein_coding	4/5			chrX	TogoVar
AP2A2_chr11_920870_1017240	935603	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0183 a0001c0002t0003g0183	1	268	0.0037	19	c.67+ others(34): Show c.67+9519_67+9537dupTTTTTTTTTTTTTTTTTTT	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(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02056.hp1 HG02258.hp1 HG01981.hp1 HG02056.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0044 a0001c0001t0001g0107 a0001c0001t0016g0045 a0001c0001t0001g0044 a0001c0001t0001g0107 a0001c0001t0016g0045	3	268	0.0112	19	c.68- others(36): Show c.68-12658_68-12657insAAAAAAAAAAAAAAAAAAA	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	998323	A A	ACCCGCCC others(12): Show ACCCGCCCCCATTCTGACCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG01109.hp2 others(59): Show HG00423.hp1 HG00597.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01433.hp1 HG01884.hp2 HG02055.hp1 HG02056.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG03017.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03540.hp2 HG03579.hp2 HG03834.hp2 NA18522.hp1 NA18939.hp1 NA18952.hp1 NA18964.hp1 NA18971.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp1 NA18994.hp1 NA18994.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19043.hp2 NA19060.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0003c0007 a0004c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0002t0002 a0001c0002t0004 a0001c0003t0002 a0001c0004t0002 a0001c0004t0009 a0001c0004t0010 a0001c0008t0004 a0003c0007t0004 a0004c0014t0001	a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0026 others(59): Show a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0079 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0124 a0001c0001t0001g0263 a0001c0001t0002g0053 a0001c0001t0013g0063 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0132 a0001c0002t0002g0154 a0001c0002t0002g0226 a0001c0002t0004g0166 a0001c0002t0004g0223 a0001c0002t0004g0224 a0001c0002t0004g0227 a0001c0002t0004g0228 a0001c0002t0004g0229 a0001c0002t0004g0231 a0001c0002t0004g0232 a0001c0002t0004g0236 a0001c0002t0004g0253 a0001c0002t0004g0254 a0001c0002t0004g0255 a0001c0003t0002g0005 a0001c0003t0002g0133 a0001c0003t0002g0134 a0001c0003t0002g0145 a0001c0003t0002g0157 a0001c0003t0002g0158 a0001c0003t0002g0194 a0001c0003t0002g0195 a0001c0003t0002g0196 a0001c0003t0002g0199 a0001c0003t0002g0200 a0001c0003t0002g0203 a0001c0003t0002g0206 a0001c0003t0002g0207 a0001c0003t0002g0208 a0001c0003t0002g0212 a0001c0003t0002g0213 a0001c0003t0002g0214 a0001c0004t0002g0191 a0001c0004t0002g0192 a0001c0004t0009g0260 a0001c0004t0009g0261 a0001c0004t0010g0165 a0001c0008t0004g0237 a0003c0007t0004g0225 a0004c0014t0001g0262	62	268	0.2313	19	c.195 others(38): Show c.1957-2090_1957-2072dupCCCCGCCCCCATTCTGACC	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	999268	A A	ACACTGTA others(12): Show ACACTGTAATCCCAGCACTT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	268	0.0037	19	c.195 others(38): Show c.1957-1164_1957-1163insCACTGTAATCCCAGCACTT	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	14/21			chr11	TogoVar
AP2B1_chr17_35582322_35731413	35703834	A A	AAGTAAAT others(12): Show AAGTAAATTTTTTAAAAAAG	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	372	0.0027	19	c.245 others(38): Show c.2455-5387_2455-5386insAAATTTTTTAAAAAAGAGT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35703834	A A	AAGTTAAA others(12): Show AAGTTAAATTTTTAAAAAAG	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	372	0.0027	19	c.245 others(38): Show c.2455-5386_2455-5385insAAATTTTTAAAAAAGAGTT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35720573	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	372	0.0027	19	c.278 others(38): Show c.2782-3051_2782-3050insATATATATATATATATATT	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(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	372	0.0027	19	c.278 others(38): Show c.2782-3051_2782-3050insATATATATATATATATATA	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21			chr17	TogoVar
AP3B1_chr5_77997326_78299698	78126504	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0158 a0001c0002t0002g0158	1	226	0.0044	19	c.196 others(38): Show c.1968+1507_1968+1525dupTTTTTTTTTTTTTTTTTTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	17/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78134149	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	226	0.0044	19	c.165 others(38): Show c.1651-4843_1651-4842insTTTTTTTTTTTTTTTTTTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	15/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0158 a0001c0002t0002g0158	1	226	0.0044	19	c.787 others(38): Show c.787-12109_787-12108insAAAAATATATATATATATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02602.hp1 HG02738.hp1 others(1): Show HG01361.hp2 HG02602.hp1 HG02738.hp1 NA18992.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0151 a0001c0002t0002g0164 a0001c0002t0002g0176 others(1): Show a0001c0002t0002g0151 a0001c0002t0002g0164 a0001c0002t0002g0176 a0001c0002t0002g0179	4	226	0.0177	19	c.787 others(38): Show c.787-12109_787-12108insAAAAAAAAATATATATATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0146 a0001c0002t0002g0146	1	226	0.0044	19	c.787 others(38): Show c.787-12109_787-12108insAAAAAAAAAAATATATATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B2_chr15_82654281_82714875	82700397	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp2 others(31): Show HG00099.hp1 HG00099.hp2 HG00408.hp2 HG00438.hp1 HG00609.hp2 HG00733.hp2 HG01099.hp1 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01433.hp1 HG02080.hp2 HG02486.hp2 HG02602.hp1 HG02683.hp2 HG02897.hp2 HG03195.hp1 HG03225.hp1 HG03654.hp2 HG03834.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp2 NA18949.hp2 NA18961.hp2 NA18964.hp1 NA18972.hp1 NA18997.hp1 NA18998.hp2 NA19060.hp1 NA19064.hp2 NA19070.hp2 NA19090.hp2 NA20752.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0006 a0001c0019 others(2): Show a0001c0001 a0001c0006 a0001c0019 a0004c0008 a0005c0018	a0001c0001t0001 a0001c0006t0001 a0001c0019t0001 others(2): Show a0001c0001t0001 a0001c0006t0001 a0001c0019t0001 a0004c0008t0001 a0005c0018t0001	a0001c0001t0001g0023 a0001c0001t0001g0139 a0001c0001t0001g0169 others(31): Show a0001c0001t0001g0023 a0001c0001t0001g0139 a0001c0001t0001g0169 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0006t0001g0090 a0001c0019t0001g0361 a0004c0008t0001g0081 a0005c0018t0001g0360	34	368	0.0924	19	c.113 others(36): Show c.113+9196_113+9197insAAAAAAAAAAAAAAAAAAA	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	1/26			chr15	TogoVar
AP3M2_chr8_42148063_42176183	42166591	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0129 a0001c0001t0004g0129	1	392	0.0026	19	c.804 others(34): Show c.804-572_804-554dupAAAAAAAAAAAAAAAAAAA	AP3M2	ENSG00000070718.13	transcript	ENST00000396926.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
AP4B1_chr1_113889194_113909799	113907204	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0012 a0002c0002t0003g0012	1	434	0.0023	19	c.-25 others(30): Show c.-2506_-2488dupAAAAAAAAAAAAAAAAAAA	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding		2406		chr1	TogoVar
AP4E1_chr15_50903683_51010895	50962889	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02970.hp1 HG02258.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0301 a0001c0001t0005g0341 a0001c0001t0005g0301 a0001c0001t0005g0341	2	392	0.0051	19	c.185 others(38): Show c.1851+4104_1851+4122dupAAAAAAAAAAAAAAAAAAA	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4S1_chr14_31020649_31101450	31049428	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	346	0.0029	19	c.-71 others(38): Show c.-71-16697_-71-16696insAAAAAAATATATATATATA	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31083494	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0133 a0001c0001t0039g0133	1	346	0.0029	19	c.306 others(36): Show c.306+2911_306+2912insTTTTTTTTTTTTTTTTTTT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31083496	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	346	0.0029	19	c.306 others(36): Show c.306+2920_306+2938dupTTTTTTTTTTTTTTTTTTT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP5S1_chr20_3815547_3833838	3831679	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0035 a0001c0001t0006g0035	1	412	0.0024	19	c.73 others(30): Show c.7382_*7383insTATATATATTTTTTTTTTT	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		2842		chr20	TogoVar
APAF1_chr12_98640290_98740433	98653689	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18993.hp2 NA19081.hp2 HG03927.hp1 NA18993.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0005g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0005g0087	3	366	0.0082	19	c.526 others(36): Show c.526+4005_526+4006insTATATATATATATATATAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26			chr12	TogoVar
APAF1_chr12_98640290_98740433	98653691	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	366	0.0027	19	c.526 others(36): Show c.526+4008_526+4009insATATATATATATATATATA	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(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA19009.hp1 NA19072.hp2 HG02698.hp2 NA19009.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0005g0066 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0005g0066	3	366	0.0082	19	c.526 others(36): Show c.526+4007_526+4008insTATATATATATATATATAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26			chr12	TogoVar
APAF1_chr12_98640290_98740433	98665278	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0201 a0001c0001t0035g0201	1	366	0.0027	19	c.956 others(34): Show c.956-274_956-273insATATATATATATATATTTT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr12	TogoVar

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