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 per page.

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
ASB5_chr4_176208673_176274222	176218817	TATATATG others(12): Show TATATATGTATGATATATAA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	410	0.0024	-19	c.671 others(36): Show c.671-1827_671-1809delTTATATATCATACATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176218936	TATATATG others(12): Show TATATATGTATGATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03209.hp1 HG01081.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0190 a0001c0001t0001g0191	2	410	0.0049	-19	c.671 others(36): Show c.671-1946_671-1928delTTATATATCATACATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176219243	TATATATG others(12): Show TATATATGTATGATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18939.hp2 NA19000.hp2 HG00597.hp1 NA18939.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0325 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0325	3	410	0.0073	-19	c.670 others(36): Show c.670+1893_670+1911delTTATATATCATACATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176219556	AATATGTA others(12): Show AATATGTATATATTTGTATG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01928.hp1 HG02015.hp1 others(4): Show HG00597.hp1 HG01928.hp1 HG02015.hp1 HG04184.hp1 HG04199.hp1 NA18945.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0019 a0001c0004t0001 a0001c0001t0001 a0001c0001t0019 a0001c0004t0001	a0001c0001t0001g0129 a0001c0001t0001g0225 a0001c0001t0001g0226 others(4): Show a0001c0001t0001g0129 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0245 a0001c0001t0001g0325 a0001c0001t0019g0213 a0001c0004t0001g0365	7	410	0.0171	-19	c.670 others(36): Show c.670+1580_670+1598delCATACAAATATATACATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASCC1_chr10_72091032_72221276	72218162	AAAAATAT others(12): Show AAAAATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG02683.hp2 HG02735.hp2 others(1): Show HG01358.hp1 HG02683.hp2 HG02735.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0057 a0001c0001t0001g0079 a0001c0001t0001g0214 others(1): Show a0001c0001t0001g0057 a0001c0001t0001g0079 a0001c0001t0001g0214 a0001c0001t0002g0014	4	216	0.0185	-19	c.-20 others(30): Show c.-2008_-1990delATATATATATATATATTTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1887		chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218164	AAATATAT others(12): Show AAATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0097	3	216	0.0139	-19	c.-20 others(30): Show c.-2010_-1992delATATATATATATATATATT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1889		chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218166	ATATATAT others(12): Show ATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01346.hp1 HG03130.hp1 others(1): Show HG01106.hp1 HG01346.hp1 HG03130.hp1 HG03471.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0002 a0001c0001t0001 a0001c0001t0002 a0003c0003t0002	a0001c0001t0001g0018 a0001c0001t0002g0116 a0001c0001t0002g0143 others(1): Show a0001c0001t0001g0018 a0001c0001t0002g0116 a0001c0001t0002g0143 a0003c0003t0002g0156	4	216	0.0185	-19	c.-20 others(30): Show c.-2012_-1994delATATATATATATATATATA	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1891		chr10	TogoVar
ASCL4_chr12_107769704_107781644	107780693	GACAAGGC others(12): Show GACAAGGCTTCAAGGAGTCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	462	0.0022	-19	c.49 others(30): Show c.4957_*4975delACAAGGCTTCAAGGAGTCT	ASCL4	ENSG00000187855.6	transcript	ENST00000342331.5	protein_coding		4050		chr12	TogoVar
ASIC2_chr17_33008087_33298295	33155397	CTTCTAAC others(12): Show CTTCTAACTTCTGAATAGCT	C C	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0162 a0001c0004t0001g0162	1	240	0.0042	-19	c.709 others(38): Show c.709-43349_709-43331delAGCTATTCAGAAGTTAGAA	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASMTL_chrX_1398139_1457909	1443594	TTGGACAG others(12): Show TTGGACAGACACCGCCATCG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp1 others(64): Show HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01169.hp2 HG01257.hp1 HG01257.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02165.hp1 HG02293.hp2 HG02523.hp2 HG02622.hp2 HG03239.hp2 HG03834.hp2 HG04184.hp1 HG04184.hp2 NA18940.hp2 NA18943.hp2 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18961.hp1 NA18963.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18990.hp2 NA18992.hp2 NA18997.hp1 NA18998.hp1 NA19007.hp1 NA19057.hp1 NA19058.hp1 NA19064.hp2 NA19068.hp1 NA19081.hp1 NA20129.hp2	a0000 a0001 a0002 others(8): Show a0000 a0001 a0002 a0003 a0004 a0008 a0009 a0011 a0012 a0014 a0021	a0000c0007 a0001c0001 a0001c0008 others(13): Show a0000c0007 a0001c0001 a0001c0008 a0002c0004 a0002c0012 a0002c0034 a0003c0002 a0003c0005 a0004c0006 a0004c0010 a0008c0018 a0009c0020 a0011c0023 a0012c0024 a0014c0025 a0021c0019	a0000c0007t0001 a0001c0001t0001 a0001c0008t0001 others(13): Show a0000c0007t0001 a0001c0001t0001 a0001c0008t0001 a0002c0004t0001 a0002c0012t0001 a0002c0034t0001 a0003c0002t0001 a0003c0005t0001 a0004c0006t0001 a0004c0010t0001 a0008c0018t0001 a0009c0020t0001 a0011c0023t0001 a0012c0024t0001 a0014c0025t0001 a0021c0019t0001	a0000c0007t0001g0033 a0000c0007t0001g0034 a0000c0007t0001g0043 others(64): Show a0000c0007t0001g0033 a0000c0007t0001g0034 a0000c0007t0001g0043 a0000c0007t0001g0044 a0000c0007t0001g0061 a0000c0007t0001g0086 a0000c0007t0001g0092 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0118 a0001c0001t0001g0137 a0001c0008t0001g0045 a0001c0008t0001g0127 a0002c0004t0001g0030 a0002c0004t0001g0038 a0002c0004t0001g0065 a0002c0004t0001g0066 a0002c0004t0001g0078 a0002c0012t0001g0103 a0002c0034t0001g0136 a0003c0002t0001g0012 a0003c0002t0001g0027 a0003c0002t0001g0028 a0003c0002t0001g0064 a0003c0002t0001g0079 a0003c0002t0001g0080 a0003c0002t0001g0108 a0003c0002t0001g0110 a0003c0005t0001g0037 a0004c0006t0001g0025 a0004c0006t0001g0058 a0004c0006t0001g0059 a0004c0006t0001g0084 a0004c0006t0001g0102 a0004c0010t0001g0029 a0004c0010t0001g0082 a0004c0010t0001g0125 a0008c0018t0001g0181 a0008c0018t0001g0182 a0009c0020t0001g0063 a0011c0023t0001g0155 a0012c0024t0001g0054 a0014c0025t0001g0152 a0021c0019t0001g0067	67	185	0.3622	-19	c.94- others(34): Show c.94-1296_94-1278delCGATGGCGGTGTCTGTCCA	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	1/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1443632	GTGGACAG others(12): Show GTGGACAGACACCGCCATCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp2 others(96): Show HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01192.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG06807.hp2 NA18906.hp1 NA18950.hp1 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18974.hp1 NA18988.hp1 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18997.hp2 NA18998.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19057.hp2 NA19064.hp1 NA19074.hp1 NA19074.hp2 NA19081.hp2 NA19083.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(14): Show a0000 a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0013 a0015 a0016 a0017 a0018 a0019 a0020 a0022	a0000c0007 a0000c0030 a0000c0039 others(31): Show a0000c0007 a0000c0030 a0000c0039 a0000c0043 a0001c0001 a0001c0008 a0001c0013 a0001c0035 a0001c0042 a0002c0003 a0002c0004 a0002c0009 a0002c0012 a0002c0014 a0002c0031 a0003c0002 a0003c0005 a0003c0029 a0003c0044 a0004c0006 a0004c0010 a0005c0037 a0005c0038 a0006c0016 a0007c0017 a0010c0041 a0013c0036 a0015c0026 a0016c0028 a0017c0022 a0018c0032 a0019c0021 a0020c0045 a0022c0046	a0000c0007t0001 a0000c0030t0001 a0000c0039t0001 others(32): Show a0000c0007t0001 a0000c0030t0001 a0000c0039t0001 a0000c0043t0001 a0001c0001t0001 a0001c0008t0001 a0001c0013t0001 a0001c0035t0001 a0001c0042t0001 a0002c0003t0001 a0002c0004t0001 a0002c0009t0001 a0002c0012t0001 a0002c0014t0001 a0002c0031t0001 a0003c0002t0001 a0003c0002t0002 a0003c0005t0001 a0003c0029t0001 a0003c0044t0001 a0004c0006t0001 a0004c0010t0001 a0005c0037t0001 a0005c0038t0001 a0006c0016t0001 a0007c0017t0001 a0010c0041t0001 a0013c0036t0001 a0015c0026t0001 a0016c0028t0001 a0017c0022t0001 a0018c0032t0001 a0019c0021t0001 a0020c0045t0001 a0022c0046t0004	a0000c0007t0001g0126 a0000c0030t0001g0026 a0000c0039t0001g0148 others(96): Show a0000c0007t0001g0126 a0000c0030t0001g0026 a0000c0039t0001g0148 a0000c0043t0001g0069 a0001c0001t0001g0002 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0156 a0001c0001t0001g0180 a0001c0008t0001g0004 a0001c0008t0001g0032 a0001c0008t0001g0088 a0001c0008t0001g0094 a0001c0008t0001g0145 a0001c0008t0001g0154 a0001c0013t0001g0068 a0001c0035t0001g0122 a0001c0042t0001g0005 a0002c0003t0001g0006 a0002c0003t0001g0009 a0002c0003t0001g0013 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0042 a0002c0003t0001g0073 a0002c0003t0001g0091 a0002c0003t0001g0093 a0002c0003t0001g0104 a0002c0003t0001g0112 a0002c0003t0001g0143 a0002c0003t0001g0153 a0002c0004t0001g0077 a0002c0004t0001g0089 a0002c0004t0001g0096 a0002c0004t0001g0124 a0002c0004t0001g0134 a0002c0004t0001g0138 a0002c0004t0001g0149 a0002c0009t0001g0072 a0002c0009t0001g0111 a0002c0009t0001g0119 a0002c0009t0001g0128 a0002c0012t0001g0095 a0002c0014t0001g0015 a0002c0031t0001g0131 a0003c0002t0001g0003 a0003c0002t0001g0047 a0003c0002t0001g0071 a0003c0002t0001g0109 a0003c0002t0001g0130 a0003c0002t0001g0140 a0003c0002t0001g0141 a0003c0002t0001g0142 a0003c0002t0001g0144 a0003c0002t0001g0157 a0003c0002t0001g0158 a0003c0002t0001g0159 a0003c0002t0001g0163 a0003c0002t0001g0165 a0003c0002t0001g0170 a0003c0002t0002g0183 a0003c0005t0001g0010 a0003c0005t0001g0035 a0003c0005t0001g0036 a0003c0005t0001g0090 a0003c0005t0001g0132 a0003c0005t0001g0139 a0003c0005t0001g0146 a0003c0005t0001g0179 a0003c0029t0001g0151 a0003c0044t0001g0011 a0004c0006t0001g0007 a0004c0006t0001g0016 a0004c0006t0001g0133 a0004c0006t0001g0135 a0004c0010t0001g0123 a0005c0037t0001g0162 a0005c0038t0001g0113 a0006c0016t0001g0166 a0006c0016t0001g0169 a0007c0017t0001g0167 a0007c0017t0001g0168 a0010c0041t0001g0161 a0013c0036t0001g0147 a0015c0026t0001g0114 a0016c0028t0001g0160 a0017c0022t0001g0017 a0018c0032t0001g0105 a0019c0021t0001g0101 a0020c0045t0001g0046 a0022c0046t0004g0184	99	185	0.5351	-19	c.94- others(34): Show c.94-1334_94-1316delTGATGGCGGTGTCTGTCCA	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	1/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1443639	GACACCGC others(12): Show GACACCGCCATCATGGACAC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG02630.hp1 others(11): Show HG02451.hp1 HG02559.hp1 HG02630.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03195.hp1 HG03195.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0011 a0001c0013 a0002c0003 others(7): Show a0001c0011 a0001c0013 a0002c0003 a0002c0009 a0002c0012 a0002c0014 a0002c0015 a0002c0033 a0003c0002 a0005c0027	a0001c0011t0001 a0001c0013t0001 a0002c0003t0001 others(7): Show a0001c0011t0001 a0001c0013t0001 a0002c0003t0001 a0002c0009t0001 a0002c0012t0001 a0002c0014t0001 a0002c0015t0001 a0002c0033t0001 a0003c0002t0001 a0005c0027t0001	a0001c0011t0001g0014 a0001c0011t0001g0174 a0001c0011t0001g0178 others(10): Show a0001c0011t0001g0014 a0001c0011t0001g0174 a0001c0011t0001g0178 a0001c0013t0001g0164 a0002c0003t0001g0176 a0002c0009t0001g0008 a0002c0012t0001g0074 a0002c0014t0001g0177 a0002c0015t0001g0001 a0002c0033t0001g0171 a0003c0002t0001g0172 a0003c0002t0001g0173 a0005c0027t0001g0175	14	185	0.0757	-19	c.94- others(34): Show c.94-1341_94-1323delGTGTCCATGATGGCGGTGT	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	1/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1443859	ATCGTGGA others(12): Show ATCGTGGACAGACACCGCCG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0099 a0001c0040t0001g0099	1	185	0.0054	-19	c.94- others(34): Show c.94-1561_94-1543delCGGCGGTGTCTGTCCACGA	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	1/12			chrX	TogoVar
ASMT_chrX_1610059_1648081	1646643	TCTCTTTC others(12): Show TCTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 NA19030.hp1 HG02922.hp1 NA19030.hp1	a0003 a0005 a0003 a0005	a0003c0005 a0005c0016 a0003c0005 a0005c0016	a0003c0005t0001 a0005c0016t0001 a0003c0005t0001 a0005c0016t0001	a0003c0005t0001g0202 a0005c0016t0001g0045 a0003c0005t0001g0202 a0005c0016t0001g0045	2	223	0.0090	-19	c.36 others(30): Show c.3630_*3648delCTCTTTCTTTCTTTCTTTC	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		3563		chrX	TogoVar
ASPA_chr17_3470997_3508405	3499530	ATGTGCTC others(12): Show ATGTGCTCACTCCTTGTCTC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG01069.hp2 others(25): Show HG00323.hp2 HG00642.hp1 HG01069.hp2 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01433.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp2 HG02257.hp2 HG02602.hp1 HG02683.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02897.hp2 HG03017.hp1 HG03041.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG04199.hp2 HG06807.hp2 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0015 a0001c0001t0049 others(3): Show a0001c0001t0006 a0001c0001t0015 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0002t0006	a0001c0001t0006g0139 a0001c0001t0006g0167 a0001c0001t0006g0197 others(21): Show a0001c0001t0006g0139 a0001c0001t0006g0167 a0001c0001t0006g0197 a0001c0001t0006g0211 a0001c0001t0006g0217 a0001c0001t0006g0319 a0001c0001t0006g0341 a0001c0001t0006g0365 a0001c0001t0006g0372 a0001c0001t0006g0375 a0001c0001t0015g0147 a0001c0001t0015g0203 a0001c0001t0015g0221 a0001c0001t0049g0059 a0001c0001t0050g0027 a0001c0001t0051g0196 a0001c0002t0006g0013 a0001c0002t0006g0015 a0001c0002t0006g0112 a0001c0002t0006g0191 a0001c0002t0006g0199 a0001c0002t0006g0201 a0001c0002t0006g0282 a0001c0002t0006g0291	28	450	0.0622	-19	c.44 others(28): Show c.447_*465delCTCACTCCTTGTCTCTGTG	ASPA	ENSG00000108381.11	transcript	ENST00000263080.3	protein_coding	6/6	447	INFO_REALIGN_3_PRIME	chr17	TogoVar
ASPDH_chr19_50506603_50518913	50506781	CCCACCCA others(12): Show CCCACCCACCCACCCACCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00621.hp1 HG00639.hp1 others(22): Show HG00140.hp2 HG00621.hp1 HG00639.hp1 HG00735.hp2 HG01346.hp2 HG02080.hp2 HG02451.hp2 HG02602.hp1 HG02886.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03516.hp1 HG03516.hp2 HG03831.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18950.hp2 NA18988.hp2 NA19030.hp2 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0007c0007t0001 a0001c0001t0001 a0007c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0007c0007t0001g0020	25	372	0.0672	-19	c.49 others(30): Show c.4930_*4948delACGGTGGGTGGGTGGGTGG	ASPDH	ENSG00000204653.10	transcript	ENST00000389208.9	protein_coding		4821		chr19	TogoVar
ASPSCR1_chr17_81972629_82022406	81984939	GCACACAC others(12): Show GCACACACCCGCACACACCC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01346.hp1 HG01361.hp1 others(13): Show HG00621.hp2 HG01346.hp1 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG03669.hp2 NA18943.hp2 NA18948.hp1 NA18975.hp2 NA18998.hp2 NA19007.hp2 NA19011.hp1 NA19056.hp2 NA19064.hp2 NA19081.hp1 NA19088.hp1	a0001 a0001	a0001c0004 a0001c0014 a0001c0004 a0001c0014	a0001c0004t0001 a0001c0014t0001 a0001c0004t0001 a0001c0014t0001	a0001c0004t0001g0026 a0001c0004t0001g0027 a0001c0004t0001g0177 others(11): Show a0001c0004t0001g0026 a0001c0004t0001g0027 a0001c0004t0001g0177 a0001c0004t0001g0178 a0001c0004t0001g0179 a0001c0004t0001g0180 a0001c0004t0001g0181 a0001c0004t0001g0182 a0001c0004t0001g0183 a0001c0004t0001g0184 a0001c0004t0001g0186 a0001c0004t0001g0187 a0001c0014t0001g0185 a0001c0014t0001g0214	16	366	0.0437	-19	c.274 others(34): Show c.274-559_274-541delCGCACACACCCCACACACC	ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
ASTN2_chr9_116418112_117420057	116499302	AAAGGTCG others(12): Show AAAGGTCGATTGAATGAATC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02965.hp1 HG02965.hp2 others(3): Show HG01884.hp2 HG02965.hp1 HG02965.hp2 HG03209.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0014 others(1): Show a0001c0001 a0001c0002 a0001c0014 a0001c0025	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0014t0017 a0001c0025t0001	a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0002g0018 others(3): Show a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0002g0018 a0001c0002t0001g0036 a0001c0014t0017g0050 a0001c0025t0001g0080	6	102	0.0588	-19	c.335 others(40): Show c.3356-11821_3356-11803delGATTCATTCAATCGACCTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116791020	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0022 a0001c0002t0003g0022	1	102	0.0098	-19	c.239 others(40): Show c.2396+14593_2396+14611delCTTTCTTTCTTTCTTTCTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116803501	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0008 a0001c0009t0008	a0001c0009t0008g0088 a0001c0009t0008g0088	1	102	0.0098	-19	c.239 others(38): Show c.2396+2112_2396+2130delTATATATATATATATATAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116803504	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0081 a0001c0008t0005g0081	1	102	0.0098	-19	c.239 others(38): Show c.2396+2109_2396+2127delATATATATATATATATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116999548	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG01099.hp1 others(17): Show HG00099.hp2 HG01081.hp2 HG01099.hp1 HG01169.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01934.hp1 HG02004.hp2 HG02698.hp2 HG03239.hp2 NA18959.hp1 NA18959.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19066.hp2 NA20300.hp2 NA20752.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0009 others(3): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0001c0017 a0007c0018	a0001c0001t0004 a0001c0001t0008 a0001c0002t0001 others(9): Show a0001c0001t0004 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0009t0004 a0001c0009t0008 a0001c0010t0001 a0001c0010t0004 a0001c0017t0002 a0007c0018t0003	a0001c0001t0004g0060 a0001c0001t0008g0065 a0001c0002t0001g0042 others(17): Show a0001c0001t0004g0060 a0001c0001t0008g0065 a0001c0002t0001g0042 a0001c0002t0001g0093 a0001c0002t0002g0023 a0001c0002t0002g0053 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0003g0021 a0001c0002t0003g0068 a0001c0002t0004g0043 a0001c0002t0004g0062 a0001c0002t0004g0091 a0001c0002t0004g0092 a0001c0009t0004g0032 a0001c0009t0008g0088 a0001c0010t0001g0102 a0001c0010t0004g0009 a0001c0017t0002g0089 a0007c0018t0003g0031	20	102	0.1961	-19	c.159 others(38): Show c.1591+8525_1591+8543delAAAAAAAAAAAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117210918	CATCAATA others(12): Show CATCAATAGAATGAAGGACA	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0003 a0002c0004t0006g0003	1	102	0.0098	-19	c.101 others(38): Show c.1015+3421_1015+3439delTGTCCTTCATTCTATTGAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	3/22			chr9	TogoVar
ASXL1_chr20_32353331_32444319	32379161	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00544.hp1 others(91): Show HG00140.hp2 HG00323.hp1 HG00544.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01515.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01993.hp1 HG02004.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03130.hp2 HG03139.hp1 HG03239.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03688.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp2 NA18747.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18968.hp1 NA18972.hp1 NA18975.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18988.hp2 NA18989.hp2 NA18997.hp1 NA19003.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp2 NA19056.hp2 NA19065.hp2 NA19077.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19088.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0008 others(4): Show a0001 a0003 a0008 a0010 a0012 a0013 a0014	a0001c0002 a0001c0017 a0003c0004 others(6): Show a0001c0002 a0001c0017 a0003c0004 a0003c0024 a0008c0011 a0010c0013 a0012c0016 a0013c0015 a0014c0023	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(11): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 a0001c0002t0018 a0001c0017t0010 a0003c0004t0003 a0003c0004t0011 a0003c0024t0011 a0008c0011t0002 a0010c0013t0002 a0012c0016t0002 a0013c0015t0002 a0014c0023t0002	a0001c0002t0001g0241 a0001c0002t0001g0253 a0001c0002t0002g0013 others(91): Show a0001c0002t0001g0241 a0001c0002t0001g0253 a0001c0002t0002g0013 a0001c0002t0002g0019 a0001c0002t0002g0021 a0001c0002t0002g0023 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0030 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0201 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0206 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0216 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0229 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0240 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0258 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0267 a0001c0002t0002g0269 a0001c0002t0002g0276 a0001c0002t0002g0279 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0005g0224 a0001c0002t0005g0227 a0001c0002t0005g0235 a0001c0002t0005g0257 a0001c0002t0005g0259 a0001c0002t0005g0266 a0001c0002t0005g0280 a0001c0002t0010g0214 a0001c0002t0018g0022 a0001c0017t0010g0246 a0003c0004t0003g0016 a0003c0004t0003g0096 a0003c0004t0003g0097 a0003c0004t0003g0098 a0003c0004t0003g0099 a0003c0004t0003g0100 a0003c0004t0003g0101 a0003c0004t0003g0102 a0003c0004t0003g0190 a0003c0004t0011g0103 a0003c0024t0011g0104 a0008c0011t0002g0270 a0008c0011t0002g0271 a0008c0011t0002g0273 a0008c0011t0002g0274 a0010c0013t0002g0205 a0012c0016t0002g0230 a0013c0015t0002g0268 a0014c0023t0002g0272	94	282	0.3333	-19	c.252 others(38): Show c.252+10061_252+10079delTTTTTTTTTTTTTTTTTTT	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL3_chr18_33573219_33756195	33600511	GAAGTTTT others(12): Show GAAGTTTTACTTTGTAAAAC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp1 HG02647.hp1 others(10): Show HG02145.hp2 HG02486.hp1 HG02647.hp1 HG02723.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 NA18906.hp2 NA19043.hp2 NA20300.hp2	a0001 a0002 a0014 others(1): Show a0001 a0002 a0014 a0015	a0001c0001 a0001c0008 a0001c0017 others(4): Show a0001c0001 a0001c0008 a0001c0017 a0002c0002 a0002c0006 a0014c0019 a0015c0014	a0001c0001t0047 a0001c0001t0075 a0001c0008t0081 others(5): Show a0001c0001t0047 a0001c0001t0075 a0001c0008t0081 a0001c0017t0076 a0002c0002t0018 a0002c0006t0009 a0014c0019t0058 a0015c0014t0082	a0001c0001t0047g0190 a0001c0001t0075g0184 a0001c0008t0081g0220 others(10): Show a0001c0001t0047g0190 a0001c0001t0075g0184 a0001c0008t0081g0220 a0001c0017t0076g0175 a0002c0002t0018g0181 a0002c0002t0018g0182 a0002c0006t0009g0030 a0002c0006t0009g0031 a0002c0006t0009g0032 a0002c0006t0009g0033 a0002c0006t0009g0037 a0014c0019t0058g0002 a0015c0014t0082g0003	13	220	0.0591	-19	c.55- others(34): Show c.55-7073_55-7055delTTTGTAAAACAAGTTTTAC	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33713228	GGTTTTTT others(12): Show GGTTTTTTTTGTTTTGTTTT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02965.hp2 HG02970.hp2 others(2): Show HG02572.hp1 HG02965.hp2 HG02970.hp2 HG03688.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 a0001c0001t0001 a0001c0001t0007 a0001c0001t0012	a0001c0001t0001g0056 a0001c0001t0001g0073 a0001c0001t0007g0025 others(2): Show a0001c0001t0001g0056 a0001c0001t0001g0073 a0001c0001t0007g0025 a0001c0001t0012g0015 a0001c0001t0012g0016	5	220	0.0227	-19	c.880 others(38): Show c.880-18730_880-18712delGTTTTGTTTTGTTTTTTTT	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATAD3A_chr1_1507162_1539685	1535041	ACCTGCCC others(12): Show ACCTGCCCCCCAGGACCCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG02735.hp2 HG03710.hp2 HG01081.hp2 HG02735.hp2 HG03710.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0007 a0001c0003t0028 a0001c0003t0002 a0001c0003t0007 a0001c0003t0028	a0001c0003t0002g0134 a0001c0003t0007g0215 a0001c0003t0028g0216 a0001c0003t0002g0134 a0001c0003t0007g0215 a0001c0003t0028g0216	3	420	0.0071	-19	c.97 others(28): Show c.970_*988delCCTGCCCCCCAGGACCCTC	ATAD3A	ENSG00000197785.14	transcript	ENST00000378756.8	protein_coding		357		chr1	TogoVar
ATAD5_chr17_30826966_30900869	30850853	ATATATAT others(12): Show ATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0101 a0003c0003t0004g0101	1	286	0.0035	-19	c.245 others(38): Show c.2451-4288_2451-4270delATATATATATATATATTTT	ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
ATAD5_chr17_30826966_30900869	30850855	ATATATAT others(12): Show ATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03041.hp2 HG03225.hp1 HG02976.hp2 HG03041.hp2 HG03225.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0098 a0003c0003t0004g0099 a0003c0003t0004g0100 a0003c0003t0004g0098 a0003c0003t0004g0099 a0003c0003t0004g0100	3	286	0.0105	-19	c.245 others(38): Show c.2451-4286_2451-4268delATATATATATATATTTTTT	ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
ATAD5_chr17_30826966_30900869	30872529	CTTTTTCT others(12): Show CTTTTTCTTTTTTTTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00597.hp1 others(42): Show HG00140.hp2 HG00323.hp1 HG00597.hp1 HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01517.hp2 HG01952.hp2 HG01993.hp2 HG02074.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02630.hp2 HG02886.hp1 HG03195.hp2 HG03239.hp2 HG03516.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp2 NA18942.hp1 NA18942.hp2 NA18973.hp2 NA18974.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0010	a0001c0001 a0001c0007 a0001c0010 others(3): Show a0001c0001 a0001c0007 a0001c0010 a0004c0004 a0006c0009 a0010c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0018 a0001c0007t0001 a0001c0010t0001 a0004c0004t0001 a0006c0009t0001 a0010c0014t0001	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 others(42): Show a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0003g0265 a0001c0001t0005g0260 a0001c0001t0006g0158 a0001c0001t0008g0126 a0001c0001t0008g0132 a0001c0001t0008g0135 a0001c0001t0008g0137 a0001c0001t0018g0136 a0001c0007t0001g0283 a0001c0007t0001g0284 a0001c0010t0001g0149 a0001c0010t0001g0150 a0004c0004t0001g0171 a0006c0009t0001g0064 a0010c0014t0001g0140	45	286	0.1573	-19	c.360 others(38): Show c.3607+2908_3607+2926delCTTTTTTTTTTTCTTTTTT	ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
ATCAY_chr19_3875685_3933082	3879502	AAAAAAAG others(12): Show AAAAAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0371 a0001c0001t0001g0371	1	384	0.0026	-19	c.-15 others(30): Show c.-1547_-1529delAAAAAAGAAAGAAAGAAAG	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding		1182		chr19	TogoVar
ATCAY_chr19_3875685_3933082	3879506	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG02071.hp2 HG02109.hp1 others(6): Show HG00408.hp2 HG02071.hp2 HG02109.hp1 HG02970.hp2 HG03139.hp1 NA18962.hp1 NA18981.hp2 NA19010.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0013 a0001c0001t0022 a0001c0001t0040	a0001c0001t0001g0226 a0001c0001t0001g0240 a0001c0001t0002g0284 others(6): Show a0001c0001t0001g0226 a0001c0001t0001g0240 a0001c0001t0002g0284 a0001c0001t0002g0329 a0001c0001t0003g0208 a0001c0001t0007g0346 a0001c0001t0013g0298 a0001c0001t0022g0234 a0001c0001t0040g0217	9	384	0.0234	-19	c.-15 others(30): Show c.-1543_-1525delAAGAAAGAAAGAAAGAAAG	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding		1178		chr19	TogoVar
ATF2_chr2_175067259_175173203	175087019	AAAATAAA others(12): Show AAAATAAATATCAAGGGGAT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	224	0.0045	-19	c.118 others(38): Show c.1185+6023_1185+6041delATCCCCTTGATATTTATTT	ATF2	ENSG00000115966.18	transcript	ENST00000264110.7	protein_coding	12/13			chr2	TogoVar
ATF6_chr1_161761320_161969070	161812371	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03041.hp1 HG03453.hp2 others(2): Show HG02895.hp1 HG03041.hp1 HG03453.hp2 HG03516.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0024 a0001c0001t0004 a0001c0001t0024	a0001c0001t0004g0167 a0001c0001t0004g0189 a0001c0001t0004g0197 others(2): Show a0001c0001t0004g0167 a0001c0001t0004g0189 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0024g0187	5	332	0.0151	-19	c.910 others(36): Show c.910-7241_910-7223delTTTTTTTTTTTTTTTTTTT	ATF6	ENSG00000118217.7	transcript	ENST00000367942.4	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATF7IP2_chr16_10381061_10488638	10449693	TCTTTTCT others(12): Show TCTTTTCTTCTTTATTAGTC	T T	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0154 a0002c0010t0002g0154	1	376	0.0027	-19	c.119 others(38): Show c.1195-7678_1195-7660delCTTTTCTTCTTTATTAGTC	ATF7IP2	ENSG00000166669.14	transcript	ENST00000562102.6	protein_coding	8/13			chr16	TogoVar
ATF7IP2_chr16_10381061_10488638	10454408	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00673.hp1 others(54): Show HG00408.hp2 HG00544.hp2 HG00673.hp1 HG01074.hp2 HG01109.hp1 HG01891.hp2 HG02055.hp1 HG02071.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02280.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03540.hp2 HG03579.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18970.hp1 NA18983.hp2 NA18985.hp2 NA18991.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp2 NA19076.hp2 NA19077.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009	a0001c0005 a0002c0001 a0002c0008 others(7): Show a0001c0005 a0002c0001 a0002c0008 a0002c0010 a0003c0004 a0003c0011 a0005c0009 a0006c0022 a0007c0018 a0009c0021	a0001c0005t0006 a0001c0005t0016 a0002c0001t0001 others(9): Show a0001c0005t0006 a0001c0005t0016 a0002c0001t0001 a0002c0008t0010 a0002c0010t0002 a0003c0004t0002 a0003c0004t0023 a0003c0011t0002 a0005c0009t0002 a0006c0022t0002 a0007c0018t0010 a0009c0021t0002	a0001c0005t0006g0005 a0001c0005t0006g0028 a0001c0005t0006g0029 others(52): Show a0001c0005t0006g0005 a0001c0005t0006g0028 a0001c0005t0006g0029 a0001c0005t0006g0367 a0001c0005t0006g0368 a0001c0005t0006g0369 a0001c0005t0006g0370 a0001c0005t0006g0371 a0001c0005t0016g0030 a0002c0001t0001g0056 a0002c0001t0001g0175 a0002c0008t0010g0031 a0002c0008t0010g0032 a0002c0008t0010g0033 a0002c0008t0010g0034 a0002c0010t0002g0145 a0003c0004t0002g0003 a0003c0004t0002g0025 a0003c0004t0002g0070 a0003c0004t0002g0071 a0003c0004t0002g0072 a0003c0004t0002g0076 a0003c0004t0002g0077 a0003c0004t0002g0078 a0003c0004t0002g0079 a0003c0004t0002g0080 a0003c0004t0002g0081 a0003c0004t0002g0082 a0003c0004t0002g0084 a0003c0004t0002g0085 a0003c0004t0002g0087 a0003c0004t0002g0113 a0003c0004t0002g0121 a0003c0004t0002g0126 a0003c0004t0002g0134 a0003c0004t0002g0149 a0003c0004t0002g0156 a0003c0004t0002g0157 a0003c0004t0002g0158 a0003c0004t0002g0160 a0003c0004t0002g0162 a0003c0004t0002g0163 a0003c0004t0002g0194 a0003c0004t0002g0196 a0003c0004t0002g0197 a0003c0004t0002g0365 a0003c0004t0023g0127 a0003c0011t0002g0159 a0003c0011t0002g0161 a0005c0009t0002g0067 a0005c0009t0002g0068 a0005c0009t0002g0069 a0006c0022t0002g0083 a0007c0018t0010g0035 a0009c0021t0002g0189	57	376	0.1516	-19	c.119 others(38): Show c.1195-2952_1195-2934delAAAAAAAAAAAAAAAAAAA	ATF7IP2	ENSG00000166669.14	transcript	ENST00000562102.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATF7IP2_chr16_10381061_10488638	10479958	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0237 a0001c0003t0022g0237	1	376	0.0027	-19	c.155 others(36): Show c.1550-896_1550-878delTTTTTTTTTTTTTTTTTTT	ATF7IP2	ENSG00000166669.14	transcript	ENST00000562102.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATF7IP_chr12_14360682_14507930	14477374	ATTATCTC others(12): Show ATTATCTCTATTGCTTTCAC	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	346	0.0029	-19	c.294 others(36): Show c.2942-922_2942-904delTATCTCTATTGCTTTCACT	ATF7IP	ENSG00000171681.13	transcript	ENST00000261168.9	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATF7_chr12_53507054_53631382	53579344	CCAAAATA others(12): Show CCAAAATAGTGAAATGCCAT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	330	0.0030	-19	c.48+ others(36): Show c.48+21590_48+21608delATGGCATTTCACTATTTTG	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11			chr12	TogoVar
ATG10_chr5_81967023_82261133	82258848	ACACATAG others(12): Show ACACATAGTAAGGGCATTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0032 a0002c0002t0032	a0002c0002t0032g0120 a0002c0002t0032g0120	1	226	0.0044	-19	c.47 others(30): Show c.4786_*4804delCACATAGTAAGGGCATTAT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding		2716		chr5	TogoVar
ATG14_chr14_55361391_55416830	55402915	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0189 a0001c0001t0012g0189	1	366	0.0027	-19	c.222 others(36): Show c.222-5500_222-5482delATATATATTTTTTTTTTTT	ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9			chr14	TogoVar
ATG14_chr14_55361391_55416830	55402919	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG04199.hp2 HG04204.hp2 HG01175.hp2 HG04199.hp2 HG04204.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0005 a0006c0012t0012 a0001c0001t0005 a0006c0012t0012	a0001c0001t0005g0190 a0001c0001t0005g0192 a0006c0012t0012g0191 a0001c0001t0005g0190 a0001c0001t0005g0192 a0006c0012t0012g0191	3	366	0.0082	-19	c.222 others(36): Show c.222-5504_222-5486delATATATATATATTTTTTTT	ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9			chr14	TogoVar
ATG14_chr14_55361391_55416830	55402921	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp1 HG01081.hp2 others(3): Show HG00741.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01169.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0005g0196 others(3): Show a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0221	6	366	0.0164	-19	c.222 others(36): Show c.222-5506_222-5488delATATATATATATATTTTTT	ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9			chr14	TogoVar
ATG14_chr14_55361391_55416830	55402925	AAATATAT others(12): Show AAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	366	0.0027	-19	c.222 others(36): Show c.222-5510_222-5492delATATATATATATATATATT	ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9			chr14	TogoVar
ATG14_chr14_55361391_55416830	55402927	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0059 a0001c0002t0039g0059	1	366	0.0027	-19	c.222 others(36): Show c.222-5512_222-5494delATATATATATATATATATA	ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9			chr14	TogoVar
ATG2A_chr11_64889546_64922209	64904819	TCTATCTA others(12): Show TCTATCTATCTATCTATCTA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03041.hp2 HG03139.hp2 others(4): Show HG02486.hp1 HG03041.hp2 HG03139.hp2 HG03209.hp1 HG03579.hp1 NA18906.hp2 NA19240.hp2	a0002 a0002	a0002c0007 a0002c0009 a0002c0007 a0002c0009	a0002c0007t0001 a0002c0009t0001 a0002c0007t0001 a0002c0009t0001	a0002c0007t0001g0016 a0002c0007t0001g0063 a0002c0007t0001g0064 others(2): Show a0002c0007t0001g0016 a0002c0007t0001g0063 a0002c0007t0001g0064 a0002c0007t0001g0067 a0002c0009t0001g0070	7	372	0.0188	-19	c.346 others(36): Show c.3464+725_3464+743delTAGATAGATAGATAGATAG	ATG2A	ENSG00000110046.14	transcript	ENST00000377264.8	protein_coding	24/40			chr11	TogoVar
ATG3_chr3_112527510_112566962	112536920	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(152): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02602.hp2 HG02683.hp1 HG02717.hp2 HG02738.hp2 HG02965.hp1 HG03017.hp2 HG03139.hp2 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04228.hp1 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18987.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(84): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0005g0196 a0001c0001t0006g0197 a0001c0001t0007g0207 a0003c0003t0001g0183	155	376	0.4122	-19	c.667 others(34): Show c.667-337_667-319delTTTTTTTTTTTTTTTTTTT	ATG3	ENSG00000144848.11	transcript	ENST00000283290.10	protein_coding	9/11			chr3	TogoVar
ATG4B_chr2_241632693_241678857	241678050	CAGATCAC others(12): Show CAGATCACCTGAGGTCAGGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	410	0.0024	-19	c.57 others(30): Show c.5787_*5805delAGATCACCTGAGGTCAGGA	ATG4B	ENSG00000168397.17	transcript	ENST00000404914.8	protein_coding		4194		chr2	TogoVar
ATG4D_chr19_10538904_10558418	10548003	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(27): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00639.hp2 HG00733.hp2 HG01074.hp2 HG01257.hp2 HG01515.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02129.hp1 HG02165.hp2 HG02300.hp2 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG03579.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp2 NA18906.hp2 NA18950.hp1 NA18952.hp2 NA18965.hp1 NA19009.hp1 NA19012.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0006t0001	a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0186 others(13): Show a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0002t0002g0005 a0001c0002t0002g0023 a0001c0002t0002g0033 a0001c0002t0002g0109 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0006t0001g0131	30	406	0.0739	-19	c.835 others(34): Show c.835+777_835+795delTTTTTTTTTTTTTTTTTTT	ATG4D	ENSG00000130734.10	transcript	ENST00000309469.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATG7_chr3_11267397_11562665	11442739	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG06807.hp2 NA19030.hp2 HG02615.hp2 HG06807.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0046 a0001c0001t0005 a0001c0001t0046	a0001c0001t0005g0149 a0001c0001t0005g0245 a0001c0001t0046g0118 a0001c0001t0005g0149 a0001c0001t0005g0245 a0001c0001t0046g0118	3	292	0.0103	-19	c.207 others(40): Show c.2079+15827_2079+15845delAAAAAAAAAAAAAAAAAAA	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar

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