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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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
ADPRHL1_chr13_113394611_113458488	113445868	G G	GCTGCAAA others(35): Show GCTGCAAACCCCTGGAGAGAGCACGCGCGTGTAGGGACCATGA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0022 a0003c0003t0022	a0003c0003t0022g0243 a0003c0003t0022g0243	1	262	0.0038	42	c.215 others(59): Show c.215-1280_215-1279insTCATGGTCCCTACACGCGCGTGCTCTCT CCAGGGGTTTGCAG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	1/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113445869	C C	CTGCAAAC others(35): Show CTGCAAACCCCTGGAGAGAGCACGTGCGTGTAGGGACCATGGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03654.hp2 HG00280.hp1 HG03654.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0007c0009t0111 a0001c0001t0001 a0007c0009t0111	a0001c0001t0001g0212 a0007c0009t0111g0211 a0001c0001t0001g0212 a0007c0009t0111g0211	2	262	0.0076	42	c.215 others(59): Show c.215-1281_215-1280insACCATGGTCCCTACACGCACGTGCTCTC TCCAGGGGTTTGCA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	1/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113445936	A A	ACGTGTAG others(35): Show ACGTGTAGGGACCATGGCTGCAAACCCCTGGAGAGAGCACGCG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp2 HG03486.hp1 HG01884.hp2 HG02559.hp2 HG03486.hp1	a0001 a0006 a0034 a0001 a0006 a0034	a0001c0001 a0006c0007 a0034c0045 a0001c0001 a0006c0007 a0034c0045	a0001c0001t0001 a0006c0007t0013 a0034c0045t0077 a0001c0001t0001 a0006c0007t0013 a0034c0045t0077	a0001c0001t0001g0214 a0006c0007t0013g0213 a0034c0045t0077g0059 a0001c0001t0001g0214 a0006c0007t0013g0213 a0034c0045t0077g0059	3	262	0.0115	42	c.215 others(59): Show c.215-1348_215-1347insCGCGTGCTCTCTCCAGGGGTTTGCAGCC ATGGTCCCTACACG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	1/7			chr13	TogoVar
ADRA1D_chr20_4215630_4254287	4231038	T T	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	452	0.0022	42	c.111 others(61): Show c.1112-8909_1112-8908insGGAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGA	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
ADRA1D_chr20_4215630_4254287	4231038	T T	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03540.hp1 HG01243.hp2 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0382 a0002c0002t0004g0383 a0002c0002t0004g0382 a0002c0002t0004g0383	2	452	0.0044	42	c.111 others(61): Show c.1112-8909_1112-8908insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGA	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
ADRM1_chr20_62297997_62313862	62309634	A A	AGGGTGGG others(35): Show AGGGTGGGAGGGGGCAGGGGGTGGAGGGGTGGGGGGGTGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	368	0.0027	42	c.87 others(51): Show c.873_*874insGGGTGGGAGGGGGCAGGGGGTGGAGGGGTGGGGGGG TGGGAG	ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding		773		chr20	TogoVar
AFAP1L1_chr5_149266859_149348637	149279407	A A	AAGAAGCT others(35): Show AAGAAGCTTTCGCAGCTTGACCCTTTTGCACACTGTAGAGAAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02965.hp1 HG02630.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0006 a0002c0002t0007g0007 a0002c0002t0007g0006 a0002c0002t0007g0007	2	286	0.0070	42	c.16+ others(57): Show c.16+7426_16+7467dupAAGCTTTCGCAGCTTGACCCTTTTGCACAC TGTAGAGAACAG	AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
AFAP1L2_chr10_114289824_114409502	114327147	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG02080.hp1 others(4): Show HG00558.hp1 HG00558.hp2 HG02080.hp1 HG02523.hp2 NA18747.hp1 NA19000.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 a0001c0003t0003 a0001c0004t0008	a0001c0001t0001g0111 a0001c0001t0001g0176 a0001c0001t0004g0082 others(4): Show a0001c0001t0001g0111 a0001c0001t0001g0176 a0001c0001t0004g0082 a0001c0003t0002g0045 a0001c0003t0002g0096 a0001c0003t0003g0235 a0001c0004t0008g0260	7	262	0.0267	42	c.316 others(59): Show c.316-3887_316-3886insTATATATATATATATATATATATATATA TATATATATATATA	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	4/18			chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114327147	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATTTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	262	0.0038	42	c.316 others(59): Show c.316-3887_316-3886insTATATATATATATATAAATATATATATA TATATATATATATA	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	4/18			chr10	TogoVar
AFAP1_chr4_7753714_7944861	7834914	A A	AGCCTTAA others(35): Show AGCCTTAAGGTTACCTGGGTGGCTCTTGAATGGACTGCGGGCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0003 a0003	a0003c0041 a0003c0041	a0003c0041t0005 a0003c0041t0005	a0003c0041t0005g0094 a0003c0041t0005g0094	1	318	0.0031	42	c.726 others(59): Show c.726+3568_726+3609dupAGCCCGCAGTCCATTCAAGAGCCACCCA GGTAACCTTAAGGC	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	6/17			chr4	TogoVar
AFAP1_chr4_7753714_7944861	7835035	T T	TGGGCTGC others(35): Show TGGGCTGCCTTAAGGTTACCTGGGTGGCTCTTGAATGGACTGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(110): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18944.hp2 NA18947.hp1 NA18950.hp2 NA18954.hp2 NA18956.hp2 NA18964.hp2 NA18966.hp1 NA18971.hp1 NA18980.hp1 NA19002.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp2 NA19063.hp1 NA19064.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0008	a0001c0001 a0001c0002 a0001c0003 others(22): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0010 a0001c0012 a0001c0015 a0001c0021 a0001c0023 a0001c0026 a0001c0032 a0001c0036 a0001c0044 a0002c0005 a0002c0008 a0002c0035 a0002c0039 a0002c0040 a0003c0006 a0003c0013 a0003c0027 a0005c0018 a0008c0042	a0001c0001t0001 a0001c0001t0070 a0001c0002t0013 others(46): Show a0001c0001t0001 a0001c0001t0070 a0001c0002t0013 a0001c0002t0032 a0001c0002t0049 a0001c0002t0050 a0001c0002t0069 a0001c0003t0017 a0001c0004t0006 a0001c0004t0007 a0001c0004t0011 a0001c0004t0062 a0001c0004t0066 a0001c0004t0068 a0001c0007t0006 a0001c0007t0021 a0001c0007t0036 a0001c0007t0061 a0001c0007t0067 a0001c0009t0042 a0001c0010t0012 a0001c0012t0018 a0001c0015t0006 a0001c0015t0037 a0001c0021t0006 a0001c0023t0001 a0001c0026t0005 a0001c0032t0009 a0001c0036t0060 a0001c0044t0032 a0002c0005t0004 a0002c0005t0033 a0002c0005t0035 a0002c0005t0063 a0002c0005t0064 a0002c0008t0004 a0002c0008t0031 a0002c0008t0054 a0002c0008t0055 a0002c0035t0001 a0002c0039t0072 a0002c0040t0073 a0003c0006t0005 a0003c0006t0019 a0003c0006t0051 a0003c0013t0005 a0003c0027t0005 a0005c0018t0004 a0008c0042t0004	a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0070g0312 others(110): Show a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0070g0312 a0001c0002t0013g0210 a0001c0002t0032g0252 a0001c0002t0049g0290 a0001c0002t0050g0226 a0001c0002t0069g0265 a0001c0003t0017g0206 a0001c0003t0017g0207 a0001c0004t0006g0014 a0001c0004t0006g0020 a0001c0004t0006g0063 a0001c0004t0006g0075 a0001c0004t0006g0076 a0001c0004t0006g0211 a0001c0004t0006g0240 a0001c0004t0006g0248 a0001c0004t0006g0260 a0001c0004t0006g0261 a0001c0004t0006g0296 a0001c0004t0006g0299 a0001c0004t0007g0269 a0001c0004t0007g0271 a0001c0004t0007g0272 a0001c0004t0007g0304 a0001c0004t0007g0305 a0001c0004t0007g0309 a0001c0004t0011g0281 a0001c0004t0011g0284 a0001c0004t0011g0301 a0001c0004t0062g0241 a0001c0004t0066g0243 a0001c0004t0068g0242 a0001c0007t0006g0131 a0001c0007t0006g0189 a0001c0007t0006g0228 a0001c0007t0006g0234 a0001c0007t0006g0235 a0001c0007t0006g0263 a0001c0007t0021g0254 a0001c0007t0021g0255 a0001c0007t0036g0005 a0001c0007t0061g0258 a0001c0007t0067g0236 a0001c0009t0042g0229 a0001c0010t0012g0004 a0001c0012t0018g0199 a0001c0012t0018g0201 a0001c0012t0018g0203 a0001c0015t0006g0139 a0001c0015t0037g0050 a0001c0021t0006g0283 a0001c0021t0006g0294 a0001c0023t0001g0132 a0001c0026t0005g0144 a0001c0032t0009g0267 a0001c0036t0060g0136 a0001c0044t0032g0227 a0002c0005t0004g0012 a0002c0005t0004g0213 a0002c0005t0004g0216 a0002c0005t0004g0217 a0002c0005t0004g0218 a0002c0005t0004g0219 a0002c0005t0004g0230 a0002c0005t0004g0244 a0002c0005t0004g0266 a0002c0005t0004g0280 a0002c0005t0004g0285 a0002c0005t0004g0297 a0002c0005t0004g0298 a0002c0005t0004g0306 a0002c0005t0004g0307 a0002c0005t0004g0308 a0002c0005t0033g0010 a0002c0005t0033g0011 a0002c0005t0035g0317 a0002c0005t0035g0318 a0002c0005t0063g0015 a0002c0005t0064g0245 a0002c0008t0004g0146 a0002c0008t0004g0147 a0002c0008t0004g0151 a0002c0008t0004g0152 a0002c0008t0031g0288 a0002c0008t0031g0289 a0002c0008t0054g0148 a0002c0008t0055g0133 a0002c0035t0001g0257 a0002c0039t0072g0314 a0002c0040t0073g0315 a0003c0006t0005g0078 a0003c0006t0005g0095 a0003c0006t0005g0096 a0003c0006t0005g0097 a0003c0006t0005g0137 a0003c0006t0005g0142 a0003c0006t0005g0143 a0003c0006t0005g0145 a0003c0006t0005g0239 a0003c0006t0005g0249 a0003c0006t0019g0134 a0003c0006t0019g0150 a0003c0006t0019g0264 a0003c0006t0051g0051 a0003c0013t0005g0107 a0003c0013t0005g0113 a0003c0013t0005g0232 a0003c0027t0005g0138 a0005c0018t0004g0214 a0005c0018t0004g0215 a0008c0042t0004g0231	113	318	0.3554	42	c.726 others(59): Show c.726+3447_726+3488dupGCAGTCCATTCAAGAGCCACCCAGGTAA CCTTAAGGCAGCCC	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	6/17			chr4	TogoVar
AFAP1_chr4_7753714_7944861	7835340	A A	AAGGTTAC others(35): Show AAGGTTACCTGGGTGGCTCTTGAATGGACTGTGGGCTGTCTTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG01106.hp2 others(32): Show HG00140.hp2 HG00735.hp1 HG01106.hp2 HG01168.hp1 HG01257.hp1 HG01891.hp1 HG02015.hp1 HG02071.hp2 HG02145.hp1 HG02257.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02818.hp2 HG02922.hp2 HG02976.hp1 HG03471.hp2 HG03579.hp2 HG03669.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp1 NA18939.hp1 NA18944.hp2 NA18971.hp1 NA19002.hp1 NA19007.hp2 NA19010.hp1 NA19063.hp1 NA19240.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0007 others(6): Show a0001c0002 a0001c0004 a0001c0007 a0001c0023 a0001c0044 a0002c0005 a0002c0008 a0002c0039 a0002c0040	a0001c0002t0032 a0001c0004t0006 a0001c0007t0006 others(16): Show a0001c0002t0032 a0001c0004t0006 a0001c0007t0006 a0001c0007t0021 a0001c0007t0036 a0001c0007t0061 a0001c0007t0067 a0001c0023t0001 a0001c0044t0032 a0002c0005t0004 a0002c0005t0033 a0002c0005t0063 a0002c0005t0064 a0002c0008t0004 a0002c0008t0031 a0002c0008t0054 a0002c0008t0055 a0002c0039t0072 a0002c0040t0073	a0001c0002t0032g0252 a0001c0004t0006g0014 a0001c0007t0006g0131 others(32): Show a0001c0002t0032g0252 a0001c0004t0006g0014 a0001c0007t0006g0131 a0001c0007t0006g0189 a0001c0007t0006g0228 a0001c0007t0006g0234 a0001c0007t0006g0235 a0001c0007t0006g0263 a0001c0007t0021g0254 a0001c0007t0021g0255 a0001c0007t0021g0262 a0001c0007t0036g0005 a0001c0007t0061g0258 a0001c0007t0067g0236 a0001c0023t0001g0132 a0001c0044t0032g0227 a0002c0005t0004g0012 a0002c0005t0004g0213 a0002c0005t0004g0266 a0002c0005t0004g0297 a0002c0005t0004g0298 a0002c0005t0033g0010 a0002c0005t0033g0011 a0002c0005t0063g0015 a0002c0005t0064g0245 a0002c0008t0004g0146 a0002c0008t0004g0147 a0002c0008t0004g0151 a0002c0008t0004g0152 a0002c0008t0031g0288 a0002c0008t0031g0289 a0002c0008t0054g0148 a0002c0008t0055g0133 a0002c0039t0072g0314 a0002c0040t0073g0315	35	318	0.1101	42	c.726 others(59): Show c.726+3142_726+3183dupCAAGACAGCCCACAGTCCATTCAAGAGC CACCCAGGTAACCT	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	6/17			chr4	TogoVar
AFAP1_chr4_7753714_7944861	7835455	T T	TGGGCTGC others(35): Show TGGGCTGCCTTAAGGTTACCTGGGTGGCTCTTGAATGGACTGC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02572.hp2 HG02922.hp1 others(3): Show HG01433.hp1 HG02572.hp2 HG02922.hp1 HG03471.hp1 HG03927.hp2 NA19056.hp1	a0001 a0001	a0001c0004 a0001c0022 a0001c0031 a0001c0004 a0001c0022 a0001c0031	a0001c0004t0007 a0001c0004t0008 a0001c0004t0065 others(2): Show a0001c0004t0007 a0001c0004t0008 a0001c0004t0065 a0001c0022t0024 a0001c0031t0071	a0001c0004t0007g0302 a0001c0004t0008g0295 a0001c0004t0008g0300 others(3): Show a0001c0004t0007g0302 a0001c0004t0008g0295 a0001c0004t0008g0300 a0001c0004t0065g0200 a0001c0022t0024g0135 a0001c0031t0071g0313	6	318	0.0189	42	c.726 others(59): Show c.726+3027_726+3068dupGCAGTCCATTCAAGAGCCACCCAGGTAA CCTTAAGGCAGCCC	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	6/17			chr4	TogoVar
AFDN_chr6_167821911_167977023	167976212	A A	AAGGCAGT others(35): Show AAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTTGGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02280.hp1 HG02717.hp2 others(5): Show HG02055.hp2 HG02280.hp1 HG02717.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG03130.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0018 a0001c0002t0001 a0001c0004t0018	a0001c0002t0001g0115 a0001c0002t0001g0140 a0001c0002t0001g0151 others(5): Show a0001c0002t0001g0115 a0001c0002t0001g0140 a0001c0002t0001g0151 a0001c0002t0001g0154 a0001c0002t0001g0192 a0001c0002t0001g0210 a0001c0002t0001g0303 a0001c0004t0018g0093	8	326	0.0245	42	c.62 others(53): Show c.6277_*6278insAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTTG GGAGGAGG	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4190		chr6	TogoVar
AFDN_chr6_167821911_167977023	167976300	G G	GCAGTGGG others(35): Show GCAGTGGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0283 a0001c0001t0003g0283	1	326	0.0031	42	c.63 others(53): Show c.6365_*6366insCAGTGGGGGTCATTCCCCCTGCAGTGTGTTGGGA GGAGAAGA	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4278		chr6	TogoVar
AFDN_chr6_167821911_167977023	167976468	G G	GCAGTGGG others(35): Show GCAGTGGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01167.hp1 HG02451.hp1 others(1): Show HG00642.hp2 HG01167.hp1 HG02451.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0005 others(1): Show a0001c0002 a0001c0004 a0001c0005 a0002c0030	a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 others(1): Show a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0002c0030t0001	a0001c0002t0001g0204 a0001c0004t0001g0231 a0001c0005t0001g0111 others(1): Show a0001c0002t0001g0204 a0001c0004t0001g0231 a0001c0005t0001g0111 a0002c0030t0001g0100	4	326	0.0123	42	c.65 others(53): Show c.6533_*6534insCAGTGGGGGTCATTCCCCCTGCAGTGTGTTGGGA GGAGAAGA	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4446		chr6	TogoVar
AFDN_chr6_167821911_167977023	167976475	G G	GGGTCATT others(35): Show GGGTCATTCCCCCTGCAGTGTGGGGGGAGGAGAAGACAGTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02965.hp1 NA18522.hp1 others(2): Show HG02922.hp1 HG02965.hp1 NA18522.hp1 NA19085.hp1 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0069 a0001c0003t0001g0088 a0001c0003t0001g0090 others(2): Show a0001c0003t0001g0069 a0001c0003t0001g0088 a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0105	5	326	0.0153	42	c.65 others(53): Show c.6540_*6541insGGTCATTCCCCCTGCAGTGTGGGGGGAGGAGAAG ACAGTGGA	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4453		chr6	TogoVar
AFDN_chr6_167821911_167977023	167976498	T T	TGGGAGGA others(35): Show TGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00609.hp2 others(61): Show HG00438.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG01069.hp1 HG01071.hp2 HG01109.hp1 HG01168.hp1 HG01261.hp1 HG01346.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02155.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02976.hp2 HG03225.hp2 HG03471.hp2 HG03491.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG06807.hp2 NA18943.hp2 NA18946.hp1 NA18954.hp2 NA18957.hp1 NA18961.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18987.hp1 NA18988.hp1 NA18992.hp2 NA19004.hp2 NA19009.hp1 NA19030.hp2 NA19064.hp2 NA19074.hp1 NA19079.hp2 NA19084.hp2 NA20805.hp1	a0001 a0008 a0011 others(1): Show a0001 a0008 a0011 a0012	a0001c0001 a0001c0007 a0001c0012 others(3): Show a0001c0001 a0001c0007 a0001c0012 a0008c0020 a0011c0018 a0012c0023	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0007t0001 a0001c0012t0003 a0008c0020t0002 a0011c0018t0002 a0012c0023t0011	a0001c0001t0002g0033 a0001c0001t0002g0040 a0001c0001t0002g0095 others(61): Show a0001c0001t0002g0033 a0001c0001t0002g0040 a0001c0001t0002g0095 a0001c0001t0002g0107 a0001c0001t0002g0123 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0188 a0001c0001t0002g0214 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0003g0096 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0283 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0007t0001g0284 a0001c0012t0003g0279 a0001c0012t0003g0280 a0008c0020t0002g0259 a0011c0018t0002g0239 a0012c0023t0011g0272	64	326	0.1963	42	c.65 others(53): Show c.6563_*6564insGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGC AGTGTGGG	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4476		chr6	TogoVar
AFF2_chrX_148495617_149005663	148581303	C C	CATATACA others(35): Show CATATACACGTATATACGTATACGTGTACACACATATACACGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02976.hp1 HG02486.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0093 a0001c0002t0032 a0001c0001t0093 a0001c0002t0032	a0001c0001t0093g0007 a0001c0002t0032g0114 a0001c0001t0093g0007 a0001c0002t0032g0114	2	169	0.0118	42	c.48- others(59): Show c.48-70690_48-70689insACGTATATACGTATACGTGTACACACAT ATACACGTATATAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581337	T T	TACGTGTA others(35): Show TACGTGTACACACATATACACGTATACGTGTACACACATATAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18983.hp1 HG04115.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0118 a0001c0001t0122 a0001c0001t0118 a0001c0001t0122	a0001c0001t0118g0088 a0001c0001t0122g0092 a0001c0001t0118g0088 a0001c0001t0122g0092	2	169	0.0118	42	c.48- others(59): Show c.48-70658_48-70657insGTACACACATATACACGTATACGTGTAC ACACATATACACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581481	T T	TACGTGTA others(35): Show TACGTGTACACACATATATACGTATACGTGTACACACATATAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0112 a0001c0003t0112	a0001c0003t0112g0130 a0001c0003t0112g0130	1	169	0.0059	42	c.48- others(59): Show c.48-70514_48-70513insGTACACACATATATACGTATACGTGTAC ACACATATACACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581568	G G	GTATACGT others(35): Show GTATACGTGTACACACATATATACGTATACGTGTACACACATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0091 a0001c0002t0091	a0001c0002t0091g0136 a0001c0002t0091g0136	1	169	0.0059	42	c.48- others(59): Show c.48-70424_48-70423insGTACACACATATATACGTATACGTGTAC ACACATATATACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581568	G G	GTCTACGT others(35): Show GTCTACGTGTACACACATATATACGTATACGTGTACACACATA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0095 a0001c0001t0077g0095	1	169	0.0059	42	c.48- others(59): Show c.48-70430_48-70429insCTACGTGTACACACATATATACGTATAC GTGTACACACATAT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF4_chr5_132870395_132968634	132952974	T T	TTCTGAAA others(35): Show TTCTGAAATACAAAACACATATGCTCCCCATGACACTTTTCTC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	392	0.0026	42	c.-5+ others(59): Show c.-5+10284_-5+10285insGAGAAAAGTGTCATGGGGAGCATATGTG TTTTGTATTTCAGA	AFF4	ENSG00000072364.13	transcript	ENST00000265343.10	protein_coding	1/20			chr5	TogoVar
AGBL1_chr15_86074871_86921156	86364998	C C	CATATATA others(35): Show CATATATATATATACACACACATATATATATACACACACGCAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0030 a0001c0007t0030	a0001c0007t0030g0123 a0001c0007t0030g0123	1	132	0.0076	42	c.237 others(63): Show c.2375-32357_2375-32356insTACACACACATATATATATACACA CACGCATATATATATATA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86735653	G G	GATATATA others(35): Show GATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0060 a0002c0060	a0002c0060t0004 a0002c0060t0004	a0002c0060t0004g0072 a0002c0060t0004g0072	1	132	0.0076	42	c.315 others(63): Show c.3158+61218_3158+61219insTATATATATATATATATATATATA TATATATATATATATATA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0109 a0003c0003t0002g0109	1	356	0.0028	42	c.848 others(57): Show c.848+373_848+374insATATATATATATATTTTTTTTTTTTTTTTT TTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0099 a0002c0002t0002g0099	1	356	0.0028	42	c.848 others(57): Show c.848+373_848+374insATATATATATATATATATTTTTTTTTTTTT TTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0077 a0002c0002t0002g0077	1	356	0.0028	42	c.848 others(57): Show c.848+373_848+374insATATATATATATATATATATATATTTTTTT TTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0020	1	356	0.0028	42	c.848 others(57): Show c.848+373_848+374insATATATATATATATATATATATATATTTTT TTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	356	0.0028	42	c.848 others(57): Show c.848+373_848+374insATATATATATATATATATATATATATATTT TTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGMO_chr7_15195317_15567015	15432369	C C	CACATATA others(35): Show CACATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03688.hp1 HG01081.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0219 a0001c0001t0002g0023 a0001c0001t0001g0219 a0001c0001t0002g0023	2	236	0.0085	42	c.410 others(59): Show c.410-1262_410-1261insATATATATATATATATATATATATATAT ATATATATATATGT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGPS_chr2_177387773_177548834	177450963	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0093 a0001c0001t0004g0093	1	258	0.0039	42	c.870 others(59): Show c.870+5349_870+5350insATATATATATATATATATATATATATAT ATATATATATATAT	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGPS_chr2_177387773_177548834	177450964	A A	ATATATAT others(35): Show ATATATATATATATATATATATACACACATATACGTATATATG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	258	0.0039	42	c.870 others(59): Show c.870+5349_870+5350insATATATATATACACACATATACGTATAT ATGTATATATATAT	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGR3_chr7_16854412_16886983	16880052	C C	CCCTTCCC others(35): Show CCCTTCCCCTTCCTTCCTTCCCCTTCCTTCCTTCCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	458	0.0022	42	c.-27 others(59): Show c.-27-1408_-27-1407insAAGGAAGGGGAAGGAAGGAAGGGGAAGG AAGGAAGGGGAAGG	AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding	1/7			chr7	TogoVar
AGR3_chr7_16854412_16886983	16880054	C C	CTTCCCCT others(35): Show CTTCCCCTTCCTTCCTTCCCCTTCCTTCCTTCCCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03453.hp2 HG02886.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0144 a0001c0002t0002g0138 a0001c0002t0001g0144 a0001c0002t0002g0138	2	458	0.0044	42	c.-27 others(59): Show c.-27-1410_-27-1409insAGAAGGAAGGGGAAGGAAGGAAGGGGAA GGAAGGAAGGGGAA	AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding	1/7			chr7	TogoVar
AHCYL2_chr7_129220030_129435211	129365628	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA18966.hp1 NA19054.hp1 HG02300.hp2 NA18966.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0030 a0001c0001t0002g0014 a0001c0001t0002g0021 a0001c0001t0001g0030 a0001c0001t0002g0014 a0001c0001t0002g0021	3	292	0.0103	42	c.364 others(61): Show c.364-13993_364-13992insATATATATATATATATATATATATAT ATATATATATATATAT	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	268	0.0037	42	c.-10 others(59): Show c.-10-3204_-10-3203insATATATATATATATATATATATATATAT ATATATATATTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0025 a0001c0008t0025	a0001c0008t0025g0158 a0001c0008t0025g0158	1	268	0.0037	42	c.-10 others(59): Show c.-10-3204_-10-3203insATATATATATATATATATATATATATAT ATATTTTTTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AIG1_chr6_143055889_143346058	143082688	A A	ATTTCCTT others(35): Show ATTTCCTTACTCAGGTATGCCACGGGTTGCAAGCTGGTCCCAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18994.hp2 HG00408.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0099 a0001c0001t0002g0098 a0001c0001t0001g0099 a0001c0001t0002g0098	2	204	0.0098	42	c.141 others(61): Show c.141+21662_141+21703dupCAGTTTCCTTACTCAGGTATGCCACG GGTTGCAAGCTGGTCC	AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	442	0.0023	42	c.135 others(57): Show c.135+477_135+478insAAAAAAAAAAAATATATATATATATATATA TATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAATATA others(35): Show AAAATATACATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18969.hp2 NA18948.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	2	442	0.0045	42	c.135 others(57): Show c.135+477_135+478insAATATACATATATATATATATATATATATA TATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AATATACA others(35): Show AATATACATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0327 a0001c0001t0002g0327	1	442	0.0023	42	c.135 others(57): Show c.135+481_135+482insCATATATATATATATATATATATATATATA TATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIPL1_chr17_6418738_6440121	6433611	T T	TCTCTCTC others(35): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0069 a0004c0013t0069	a0004c0013t0069g0312 a0004c0013t0069g0312	1	454	0.0022	42	c.276 others(57): Show c.276+307_276+308insTGTGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAG	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding	2/5			chr17	TogoVar
AK5_chr1_77277019_77564966	77367560	T T	TATATATG others(35): Show TATATATGTTATATATATATATGTTATATATATAATATATATG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0143 a0002c0002t0002g0143	1	284	0.0035	42	c.891 others(61): Show c.891+26998_891+26999insGTTATATATATATATGTTATATATAT AATATATATGATATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77367569	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATAATATATATGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01192.hp1 HG03490.hp2 others(6): Show HG00621.hp1 HG01192.hp1 HG03490.hp2 HG03492.hp2 NA18522.hp2 NA18941.hp1 NA18961.hp1 NA18992.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0003 a0001c0001t0006 a0002c0006t0014 a0001c0001t0003 a0001c0001t0006 a0002c0006t0014	a0001c0001t0003g0147 a0001c0001t0003g0169 a0001c0001t0003g0179 others(6): Show a0001c0001t0003g0147 a0001c0001t0003g0169 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0187 a0001c0001t0003g0284 a0001c0001t0006g0145 a0001c0001t0006g0146 a0002c0006t0014g0088	9	284	0.0317	42	c.891 others(61): Show c.891+27011_891+27012insTATATATATATATATATATATAATAT ATATGTTATATATATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77367569	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATTATATATGT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0029	1	284	0.0035	42	c.891 others(61): Show c.891+27011_891+27012insTATATATATATATATATATATATTAT ATATGTTATATATATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AKAP12_chr6_151234967_151363559	151259470	G G	GTGTATAT others(35): Show GTGTATATATGTGTATATATATACACACATATATACATGTGTA	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19240.hp2 HG02922.hp2 NA19240.hp2	a0005 a0007 a0005 a0007	a0005c0006 a0007c0010 a0005c0006 a0007c0010	a0005c0006t0001 a0007c0010t0008 a0005c0006t0001 a0007c0010t0008	a0005c0006t0001g0012 a0007c0010t0008g0077 a0005c0006t0001g0012 a0007c0010t0008g0077	2	316	0.0063	42	c.162 others(61): Show c.162+18747_162+18748insGTATATATGTGTATATATATACACAC ATATATACATGTGTAT	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP13_chr15_85375603_85754355	85498199	G G	GATATAGA others(35): Show GATATAGATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18986.hp1 NA18991.hp1 others(1): Show HG02132.hp1 NA18986.hp1 NA18991.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0001 a0002c0001t0002 a0002c0001t0073 a0001c0004t0001 a0002c0001t0002 a0002c0001t0073	a0001c0004t0001g0152 a0001c0004t0001g0232 a0002c0001t0002g0154 others(1): Show a0001c0004t0001g0152 a0001c0004t0001g0232 a0002c0001t0002g0154 a0002c0001t0073g0181	4	314	0.0127	42	c.33+ others(59): Show c.33+12451_33+12452insGATATATATATATATATATATATATATA TATATATATATATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85498199	G G	GATATATA others(35): Show GATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0131 a0001c0004t0016g0131	1	314	0.0032	42	c.33+ others(59): Show c.33+12474_33+12475insATATATATATATATATATATATATATAT ATATATATATATAT	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr15	TogoVar

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