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
A2ML1_chr12_8817621_8881787	8840966	A A	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0094 a0003c0005t0003g0094	1	368	0.0027	20	c.108 others(37): Show c.1081-392_1081-391insGGAAGGAAGGAAGGAAGGAA	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	10/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
A2ML1_chr12_8817621_8881787	8840978	A A	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG01081.hp2 others(14): Show HG00735.hp2 HG00741.hp1 HG01081.hp2 HG01255.hp1 HG01256.hp1 HG02486.hp2 HG02559.hp2 HG02683.hp2 HG02809.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03491.hp1 HG03704.hp1 NA18956.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0002 a0001c0060 a0002c0003 others(7): Show a0001c0002 a0001c0060 a0002c0003 a0002c0004 a0003c0005 a0003c0010 a0003c0023 a0003c0071 a0008c0024 a0008c0038	a0001c0002t0002 a0001c0060t0002 a0002c0003t0001 others(8): Show a0001c0002t0002 a0001c0060t0002 a0002c0003t0001 a0002c0004t0003 a0003c0005t0003 a0003c0010t0003 a0003c0023t0001 a0003c0071t0003 a0008c0024t0003 a0008c0024t0004 a0008c0038t0003	a0001c0002t0002g0063 a0001c0060t0002g0070 a0002c0003t0001g0087 others(13): Show a0001c0002t0002g0063 a0001c0060t0002g0070 a0002c0003t0001g0087 a0002c0003t0001g0345 a0002c0004t0003g0002 a0003c0005t0003g0082 a0003c0005t0003g0086 a0003c0005t0003g0120 a0003c0005t0003g0121 a0003c0010t0003g0085 a0003c0010t0003g0088 a0003c0023t0001g0224 a0003c0071t0003g0232 a0008c0024t0003g0027 a0008c0024t0004g0277 a0008c0038t0003g0039	17	368	0.0462	20	c.108 others(37): Show c.1081-376_1081-357dupAGGAAGGAAGGAAGGAAGGA	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	10/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
A2ML1_chr12_8817621_8881787	8841009	A A	AGGAAGGA others(13): Show AGGAAGGAAGGAAGGAAGGAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(83): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01346.hp2 HG01515.hp1 HG01517.hp2 HG01952.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02698.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp1 HG03098.hp2 HG03225.hp2 HG03491.hp2 HG03540.hp2 HG03654.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp1 NA18939.hp1 NA18939.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18969.hp1 NA18971.hp1 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18987.hp1 NA18989.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19003.hp2 NA19012.hp1 NA19054.hp2 NA19057.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19074.hp1 NA19080.hp1 NA19084.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA21309.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0010 a0016 a0018 a0019 a0022 a0027 a0029 a0031 a0034 a0037	a0001c0001 a0001c0002 a0001c0006 others(19): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0002c0003 a0002c0004 a0002c0007 a0002c0017 a0002c0061 a0003c0023 a0004c0014 a0005c0009 a0010c0065 a0016c0043 a0018c0032 a0019c0027 a0022c0025 a0027c0070 a0029c0050 a0031c0048 a0034c0052 a0037c0044	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0003 a0002c0007t0003 a0002c0017t0002 a0002c0061t0004 a0003c0023t0003 a0004c0014t0004 a0005c0009t0001 a0010c0065t0005 a0016c0043t0002 a0018c0032t0002 a0019c0027t0002 a0022c0025t0001 a0027c0070t0001 a0029c0050t0001 a0031c0048t0002 a0034c0052t0005 a0037c0044t0002	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0114 others(83): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0114 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0149 a0001c0001t0001g0161 a0001c0001t0001g0177 a0001c0001t0001g0188 a0001c0001t0001g0213 a0001c0001t0001g0276 a0001c0001t0001g0281 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0300 a0001c0001t0001g0305 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0002g0190 a0001c0001t0002g0308 a0001c0001t0002g0312 a0001c0001t0008g0100 a0001c0001t0008g0101 a0001c0002t0001g0156 a0001c0002t0002g0017 a0001c0002t0002g0029 a0001c0002t0002g0045 a0001c0002t0002g0048 a0001c0002t0002g0098 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0139 a0001c0002t0002g0143 a0001c0002t0002g0148 a0001c0002t0002g0162 a0001c0002t0002g0173 a0001c0002t0002g0210 a0001c0002t0002g0214 a0001c0002t0002g0218 a0001c0002t0002g0241 a0001c0002t0002g0249 a0001c0002t0002g0273 a0001c0002t0002g0286 a0001c0002t0002g0288 a0001c0002t0002g0307 a0001c0002t0002g0310 a0001c0002t0002g0318 a0001c0002t0002g0339 a0001c0006t0002g0009 a0001c0006t0002g0231 a0001c0006t0002g0243 a0001c0006t0002g0251 a0001c0006t0002g0263 a0001c0006t0002g0324 a0001c0008t0001g0247 a0001c0008t0002g0358 a0002c0003t0001g0178 a0002c0003t0001g0179 a0002c0003t0001g0252 a0002c0003t0001g0327 a0002c0003t0001g0354 a0002c0003t0002g0109 a0002c0003t0002g0311 a0002c0004t0001g0299 a0002c0004t0003g0267 a0002c0004t0003g0274 a0002c0007t0003g0222 a0002c0017t0002g0227 a0002c0061t0004g0314 a0003c0023t0003g0321 a0004c0014t0004g0159 a0005c0009t0001g0077 a0005c0009t0001g0225 a0010c0065t0005g0313 a0016c0043t0002g0126 a0018c0032t0002g0066 a0018c0032t0002g0115 a0019c0027t0002g0030 a0022c0025t0001g0248 a0022c0025t0001g0253 a0027c0070t0001g0245 a0029c0050t0001g0203 a0031c0048t0002g0019 a0034c0052t0005g0360 a0037c0044t0002g0112	86	368	0.2337	20	c.108 others(37): Show c.1081-357_1081-356insAGGAAGGAAGGAAGGACGGA	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	10/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
A3GALT2_chr1_33301766_33326098	33301803	A A	AGGCTTGG others(13): Show AGGCTTGGTGGCTCATGCTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0224 a0001c0001t0000g0224	1	418	0.0024	20	c.49 others(31): Show c.4962_*4963insCAAGCATGAGCCACCAAGCC	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding		4962		chr1	TogoVar
A4GALT_chr22_42687121_42725870	42703106	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01884.hp1 HG02280.hp1 others(4): Show HG00733.hp2 HG01884.hp1 HG02280.hp1 HG02647.hp1 HG02896.hp2 HG03041.hp1 NA18906.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0008 a0004c0005 a0005c0006	a0001c0001t0004 a0001c0002t0009 a0002c0003t0001 others(3): Show a0001c0001t0004 a0001c0002t0009 a0002c0003t0001 a0002c0008t0001 a0004c0005t0010 a0005c0006t0001	a0001c0001t0004g0334 a0001c0002t0009g0257 a0002c0003t0001g0243 others(4): Show a0001c0001t0004g0334 a0001c0002t0009g0257 a0002c0003t0001g0243 a0002c0003t0001g0276 a0002c0008t0001g0270 a0004c0005t0010g0273 a0005c0006t0001g0395	7	406	0.0172	20	c.-18 others(39): Show c.-187-7495_-187-7476dupCACACACACACACACACACA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42708545	A A	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG00639.hp1 others(24): Show HG00544.hp2 HG00621.hp2 HG00639.hp1 HG02027.hp2 HG02109.hp2 HG02132.hp2 HG02523.hp2 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG03669.hp1 HG04228.hp2 NA18747.hp2 NA18962.hp1 NA18973.hp2 NA18979.hp2 NA18980.hp2 NA18994.hp1 NA19002.hp2 NA19007.hp1 NA19056.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0008 a0005c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0016 a0001c0002t0003 a0001c0002t0006 a0002c0003t0001 a0002c0008t0001 a0005c0006t0001	a0001c0001t0002g0003 a0001c0001t0002g0141 a0001c0001t0002g0142 others(23): Show a0001c0001t0002g0003 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0149 a0001c0001t0002g0160 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0186 a0001c0001t0002g0204 a0001c0001t0002g0229 a0001c0001t0004g0393 a0001c0001t0007g0059 a0001c0001t0016g0072 a0001c0002t0003g0082 a0001c0002t0006g0111 a0002c0003t0001g0140 a0002c0003t0001g0173 a0002c0003t0001g0244 a0002c0008t0001g0346 a0005c0006t0001g0261 a0005c0006t0001g0262 a0005c0006t0001g0395	27	406	0.0665	20	c.-18 others(41): Show c.-188+12232_-188+12251dupCTTCCTTCCTTCCTTCCTTC	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42709067	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01993.hp1 HG03669.hp2 HG00323.hp2 HG01993.hp1 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0003 a0001c0002t0005	a0001c0002t0003g0013 a0001c0002t0005g0093 a0001c0002t0005g0096 a0001c0002t0003g0013 a0001c0002t0005g0093 a0001c0002t0005g0096	3	406	0.0074	20	c.-18 others(41): Show c.-188+11729_-188+11730insAAAAAATATATATATATATA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42709067	A A	ATATATAT others(13): Show ATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01192.hp1 HG01070.hp2 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0078 a0001c0002t0003g0079 a0001c0002t0003g0078 a0001c0002t0003g0079	2	406	0.0049	20	c.-18 others(41): Show c.-188+11729_-188+11730insAAAAAAAATATATATATATA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
AADACL2_chr3_151728927_151766339	151731938	G G	GAGATAGA others(13): Show GAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00642.hp2 HG01106.hp2 others(54): Show HG00423.hp2 HG00642.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp2 HG01891.hp2 HG01928.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02083.hp1 HG02135.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02647.hp2 HG02738.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG04184.hp2 NA18946.hp1 NA18953.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18971.hp1 NA18975.hp1 NA18980.hp1 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18998.hp1 NA19005.hp1 NA19054.hp1 NA19072.hp2 NA19077.hp1 NA19086.hp1 NA19089.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0007 a0001c0001 a0002c0002 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0067 a0002c0002t0002 a0002c0002t0004 a0002c0002t0010 a0002c0002t0019 a0006c0007t0014	a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0132 others(38): Show a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0002g0031 a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0063 a0001c0001t0003g0139 a0001c0001t0005g0031 a0001c0001t0006g0050 a0001c0001t0006g0091 a0001c0001t0007g0002 a0001c0001t0007g0012 a0001c0001t0008g0002 a0001c0001t0013g0066 a0001c0001t0014g0006 a0001c0001t0014g0128 a0001c0001t0014g0149 a0001c0001t0015g0006 a0001c0001t0018g0006 a0001c0001t0018g0135 a0001c0001t0020g0006 a0001c0001t0020g0146 a0001c0001t0023g0034 a0001c0001t0027g0034 a0001c0001t0028g0033 a0001c0001t0030g0032 a0001c0001t0030g0067 a0001c0001t0032g0006 a0001c0001t0052g0006 a0001c0001t0054g0055 a0001c0001t0055g0006 a0001c0001t0056g0006 a0001c0001t0067g0148 a0002c0002t0002g0030 a0002c0002t0004g0056 a0002c0002t0004g0145 a0002c0002t0010g0030 a0002c0002t0019g0030 a0006c0007t0014g0006	57	428	0.1332	20	c.-20 others(31): Show c.-2098_-2097insAGATAGATAGATAGATAGAT	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding		1988		chr3	TogoVar
AADACL4_chr1_12639085_12672076	12648346	A A	ATCCATCC others(13): Show ATCCATCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp2 HG02818.hp1 others(1): Show HG02572.hp2 HG02630.hp2 HG02818.hp1 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0003t0004 a0001c0002t0004 a0001c0003t0004	a0001c0002t0004g0051 a0001c0002t0004g0052 a0001c0002t0004g0056 others(1): Show a0001c0002t0004g0051 a0001c0002t0004g0052 a0001c0002t0004g0056 a0001c0003t0004g0034	4	310	0.0129	20	c.169 others(37): Show c.169-2774_169-2773insATCCTTCCTTCCTTCCTTCC	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12648388	C C	CCTTCCTT others(13): Show CCTTCCTTCCTTCCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp2 HG02717.hp2 others(2): Show HG01884.hp1 HG02615.hp2 HG02717.hp2 HG03017.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0068 a0001c0001t0001g0232 a0001c0001t0001g0233 others(2): Show a0001c0001t0001g0068 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0002g0059 a0001c0001t0002g0062	5	310	0.0161	20	c.169 others(37): Show c.169-2732_169-2731insCCTTCCTTCCTTTCTTTCTT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCACAC others(13): Show GCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03041.hp1 HG01261.hp1 HG03041.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0002c0002 a0003c0005	a0002c0002t0003 a0003c0005t0004 a0002c0002t0003 a0003c0005t0004	a0002c0002t0003g0177 a0003c0005t0004g0358 a0002c0002t0003g0177 a0003c0005t0004g0358	2	380	0.0053	20	c.535 others(37): Show c.535+9571_535+9572insTGTGTGTGTGTGTGTGTGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCGCAC others(13): Show GCGCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0222 a0002c0002t0003g0222	1	380	0.0026	20	c.535 others(37): Show c.535+9571_535+9572insTGTGTGTGTGTGTGTGCGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCGCGC others(13): Show GCGCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	380	0.0026	20	c.535 others(37): Show c.535+9571_535+9572insTGTGTGTGTGTGTGCGCGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCGCGC others(13): Show GCGCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0262 a0001c0001t0004g0262	1	380	0.0026	20	c.535 others(37): Show c.535+9571_535+9572insTGTGTGTGTGTGCGCGCGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(13): Show ACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01106.hp1 others(6): Show HG00735.hp1 HG00735.hp2 HG01106.hp1 HG01167.hp1 HG01346.hp1 HG01516.hp2 NA18612.hp1 NA18747.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0143 others(4): Show a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0143 a0002c0002t0003g0149 a0002c0002t0003g0165 a0002c0002t0003g0179 a0002c0002t0003g0223	9	380	0.0237	20	c.535 others(37): Show c.535+9531_535+9532insGGTGTGTGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67241040	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18747.hp1 HG03540.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0064 a0001c0001t0005g0232 a0001c0001t0002g0064 a0001c0001t0005g0232	2	380	0.0053	20	c.74- others(35): Show c.74-4240_74-4221dupGTGTGTGTGTGTGTGTGTGT	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	1/9			chr15	TogoVar
AAK1_chr2_69452997_69648739	69493158	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00558.hp1 others(17): Show HG00099.hp2 HG00408.hp1 HG00558.hp1 HG01074.hp2 HG01106.hp1 HG01258.hp1 HG01928.hp1 HG02056.hp2 HG02109.hp2 HG02145.hp2 HG02698.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp2 NA18954.hp1 NA18956.hp2 NA18968.hp2 NA19011.hp2 NA19060.hp2 NA19240.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0004 a0001c0008 others(4): Show a0001c0001 a0001c0004 a0001c0008 a0001c0009 a0002c0002 a0004c0012 a0005c0010	a0001c0001t0004 a0001c0001t0006 a0001c0001t0020 others(14): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0020 a0001c0004t0002 a0001c0004t0017 a0001c0004t0068 a0001c0004t0070 a0001c0004t0146 a0001c0008t0069 a0001c0008t0097 a0001c0008t0098 a0001c0009t0141 a0002c0002t0001 a0002c0002t0038 a0002c0002t0051 a0004c0012t0061 a0005c0010t0010	a0001c0001t0004g0206 a0001c0001t0006g0207 a0001c0001t0006g0222 others(17): Show a0001c0001t0004g0206 a0001c0001t0006g0207 a0001c0001t0006g0222 a0001c0001t0020g0193 a0001c0004t0002g0137 a0001c0004t0017g0075 a0001c0004t0068g0079 a0001c0004t0070g0071 a0001c0004t0146g0273 a0001c0008t0069g0102 a0001c0008t0097g0131 a0001c0008t0098g0140 a0001c0009t0141g0191 a0002c0002t0001g0019 a0002c0002t0001g0033 a0002c0002t0001g0046 a0002c0002t0038g0001 a0002c0002t0051g0045 a0004c0012t0061g0067 a0005c0010t0010g0153	20	298	0.0671	20	c.236 others(39): Show c.2365+2826_2365+2827insTTTTTTTTTTTTTTTTTTTT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500664	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03225.hp2 NA19080.hp1 HG03139.hp2 HG03225.hp2 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0001c0001t0031 a0002c0002t0008 a0001c0001t0007 a0001c0001t0031 a0002c0002t0008	a0001c0001t0007g0065 a0001c0001t0031g0176 a0002c0002t0008g0050 a0001c0001t0007g0065 a0001c0001t0031g0176 a0002c0002t0008g0050	3	298	0.0101	20	c.227 others(39): Show c.2270-4604_2270-4585dupATATATATATATATATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500698	T T	TATATATA others(13): Show TATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0230 a0002c0002t0005g0230	1	298	0.0034	20	c.227 others(39): Show c.2270-4619_2270-4618insGTGTGTATATATATATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500698	T T	TATATATA others(13): Show TATATATATGTATATATATAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0016 a0001c0006t0016	a0001c0006t0016g0289 a0001c0006t0016g0289	1	298	0.0034	20	c.227 others(39): Show c.2270-4619_2270-4618insGTATATATATACATATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAR2_chr20_36231478_36261933	36234156	A A	ATATATAT others(13): Show ATATATATATGTACATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02965.hp1 HG02922.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0011 a0001c0001t0006g0011	2	298	0.0067	20	c.-23 others(31): Show c.-2396_-2395insTATATATATGTACATATATG	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding		2321		chr20	TogoVar
AARS1_chr16_70247298_70294506	70269322	G G	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0335 a0002c0004t0001g0335	1	362	0.0028	20	c.962 others(35): Show c.962+276_962+295dupTTTTTTTTTTTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	7/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70272889	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02109.hp2 HG02258.hp2 others(7): Show HG01123.hp2 HG02109.hp2 HG02258.hp2 HG02559.hp2 HG02886.hp2 HG02970.hp2 HG03486.hp1 HG03579.hp2 NA18612.hp2 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 a0001c0001t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0002g0180 others(7): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0002g0180 a0002c0004t0001g0343 a0002c0004t0001g0345 a0002c0004t0001g0346 a0002c0004t0001g0349 a0002c0004t0001g0352 a0002c0004t0001g0354 a0002c0004t0001g0356	10	362	0.0276	20	c.480 others(35): Show c.480-937_480-918dupGTGTGTGTGTGTGTGTGTGT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	4/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70289738	A A	ACCCCCCC others(13): Show ACCCCCCCCCCGCCCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG02129.hp1 HG00323.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0091 a0001c0001t0001g0069 a0001c0001t0001g0091	2	362	0.0055	20	c.-34 others(29): Show c.-340_-339insCGGGGGGGGCGGGGGGGGGG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		233		chr16	TogoVar
AARS1_chr16_70247298_70294506	70289738	A A	ACCCCCCC others(13): Show ACCCCCCCCCGCCCCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	362	0.0028	20	c.-34 others(29): Show c.-340_-339insCGGGGGGGGGCGGGGGGGGG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		233		chr16	TogoVar
AARS1_chr16_70247298_70294506	70289738	A A	ACCCCCCC others(13): Show ACCCCCCCCCGCCCCCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG02559.hp1 NA18950.hp1 others(4): Show HG01515.hp2 HG02559.hp1 NA18950.hp1 NA19058.hp1 NA19079.hp1 NA19082.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0080 a0001c0001t0001g0103 others(4): Show a0001c0001t0001g0052 a0001c0001t0001g0080 a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0138	7	362	0.0193	20	c.-35 others(29): Show c.-359_-340dupGCGGGGGGGGCGGGGGGGGG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		233		chr16	TogoVar
AARS1_chr16_70247298_70294506	70289738	A A	ACCCCCCC others(13): Show ACCCCCCCCGCCCCCCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	362	0.0028	20	c.-34 others(29): Show c.-340_-339insGCGGGGGGGGGCGGGGGGGG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		233		chr16	TogoVar
AARS1_chr16_70247298_70294506	70289747	C C	CCGCCCCC others(13): Show CCGCCCCCCCGCCCCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0149 a0001c0002t0004g0149	1	362	0.0028	20	c.-34 others(29): Show c.-349_-348insCGGGGGGGGGCGGGGGGGCG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		242		chr16	TogoVar
AARS1_chr16_70247298_70294506	70289748	G G	GCCCCCCC others(13): Show GCCCCCCCCGCCCCCCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02083.hp2 HG02132.hp1 others(1): Show HG02027.hp2 HG02083.hp2 HG02132.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0075 a0001c0001t0001g0087 others(1): Show a0001c0001t0001g0065 a0001c0001t0001g0075 a0001c0001t0001g0087 a0001c0001t0001g0117	4	362	0.0111	20	c.-36 others(29): Show c.-369_-350dupGCGGGGGGGGGCGGGGGGGG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		243		chr16	TogoVar
AARS1_chr16_70247298_70294506	70289757	G G	GCCCCCCC others(13): Show GCCCCCCCCCGCCCCCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	362	0.0028	20	c.-35 others(29): Show c.-359_-358insGCGGGGGGGGCGGGGGGGGG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		252		chr16	TogoVar
AASDH_chr4_56333290_56392491	56381649	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18973.hp1 NA18979.hp2 others(1): Show NA18952.hp2 NA18973.hp1 NA18979.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0113 a0002c0002t0001g0124 a0002c0002t0001g0018 a0002c0002t0001g0113 a0002c0002t0001g0124	4	382	0.0105	20	c.351 others(35): Show c.351+808_351+827dupTGTGTGTGTGTGTGTGTGTG	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	3/14			chr4	TogoVar
AASDH_chr4_56333290_56392491	56381649	T T	TCTCACAC others(13): Show TCTCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01167.hp2 others(21): Show HG01069.hp1 HG01071.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01258.hp1 HG01884.hp2 HG02004.hp2 HG02015.hp2 HG02300.hp2 HG02486.hp1 HG02809.hp1 HG02896.hp2 HG03195.hp1 HG03239.hp1 HG03490.hp1 HG03579.hp2 HG04184.hp2 NA18522.hp2 NA18944.hp1 NA18966.hp1 NA19000.hp1 NA19088.hp2 NA20129.hp1	a0002 a0003 a0006 others(2): Show a0002 a0003 a0006 a0017 a0018	a0002c0002 a0003c0003 a0006c0009 others(2): Show a0002c0002 a0003c0003 a0006c0009 a0017c0022 a0018c0023	a0002c0002t0001 a0003c0003t0002 a0006c0009t0004 others(2): Show a0002c0002t0001 a0003c0003t0002 a0006c0009t0004 a0017c0022t0001 a0018c0023t0002	a0002c0002t0001g0017 a0002c0002t0001g0105 a0002c0002t0001g0110 others(17): Show a0002c0002t0001g0017 a0002c0002t0001g0105 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0003c0003t0002g0003 a0003c0003t0002g0042 a0003c0003t0002g0278 a0003c0003t0002g0279 a0003c0003t0002g0295 a0003c0003t0002g0296 a0003c0003t0002g0297 a0003c0003t0002g0327 a0003c0003t0002g0328 a0006c0009t0004g0331 a0017c0022t0001g0109 a0018c0023t0002g0043	24	382	0.0628	20	c.351 others(35): Show c.351+827_351+828insTGTGTGTGTGTGTGTGTGAG	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	3/14			chr4	TogoVar
AASS_chr7_122068549_122149249	122140485	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02129.hp2 HG03139.hp1 others(4): Show HG00741.hp1 HG02129.hp2 HG03139.hp1 HG03516.hp2 NA18951.hp2 NA18962.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0033 a0001c0001t0001 a0001c0001t0003 a0001c0001t0033	a0001c0001t0001g0150 a0001c0001t0003g0034 a0001c0001t0003g0266 others(3): Show a0001c0001t0001g0150 a0001c0001t0003g0034 a0001c0001t0003g0266 a0001c0001t0003g0303 a0001c0001t0003g0313 a0001c0001t0033g0066	7	384	0.0182	20	c.-16 others(37): Show c.-16+3656_-16+3675dupTTTTTTTTTTTTTTTTTTTT	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	1/23			chr7	TogoVar
AATF_chr17_36943954_37061871	37001405	G G	GAGGGAGG others(13): Show GAGGGAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19056.hp1 NA18950.hp1 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0239 a0001c0002t0002g0240	2	245	0.0082	20	c.139 others(41): Show c.1398+10551_1398+10552insGAGGAAGGAAGGAAGGAAGG	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AATF_chr17_36943954_37061871	37014292	T T	TAATAATA others(13): Show TAATAATAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG06807.hp1 HG02723.hp1 HG06807.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0097 a0002c0004t0001g0098 a0002c0004t0001g0097 a0002c0004t0001g0098	2	245	0.0082	20	c.139 others(39): Show c.1399-4702_1399-4701insTAATAATAAAATAATAATAA	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABAT_chr16_8669617_8789570	8707353	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03669.hp1 HG02698.hp2 HG03669.hp1	a0002 a0002	a0002c0004 a0002c0006 a0002c0004 a0002c0006	a0002c0004t0001 a0002c0006t0005 a0002c0004t0001 a0002c0006t0005	a0002c0004t0001g0128 a0002c0006t0005g0129 a0002c0004t0001g0128 a0002c0006t0005g0129	2	362	0.0055	20	c.-41 others(39): Show c.-41-28329_-41-28328insTTTTTTTTTTTTTTTTTTTT	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8710727	A A	AGAGAGAG others(13): Show AGAGAGAGAGGGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00735.hp1 HG01168.hp2 others(16): Show HG00609.hp1 HG00735.hp1 HG01168.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02523.hp1 HG03654.hp2 HG04184.hp2 NA18960.hp1 NA18971.hp2 NA18973.hp1 NA18986.hp2 NA19002.hp1 NA19056.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0001c0003t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0002t0029 a0002c0004t0001 a0002c0004t0003 a0002c0005t0001	a0001c0001t0001g0274 a0001c0001t0002g0154 a0001c0001t0003g0171 others(16): Show a0001c0001t0001g0274 a0001c0001t0002g0154 a0001c0001t0003g0171 a0001c0001t0004g0096 a0001c0003t0001g0089 a0001c0003t0003g0088 a0001c0003t0003g0114 a0001c0003t0003g0133 a0001c0003t0003g0136 a0002c0002t0001g0033 a0002c0002t0001g0140 a0002c0002t0001g0170 a0002c0002t0002g0150 a0002c0002t0002g0197 a0002c0002t0009g0193 a0002c0002t0029g0208 a0002c0004t0001g0065 a0002c0004t0003g0198 a0002c0005t0001g0214	19	362	0.0525	20	c.-41 others(39): Show c.-41-24969_-41-24968insAGAGAGGGAGAGGGAGGGAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8711810	G G	GGATGGAT others(13): Show GGATGGATGGATGGATGGATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp1 HG03017.hp2 others(5): Show HG00621.hp1 HG00673.hp1 HG03017.hp2 NA18612.hp2 NA18948.hp1 NA18995.hp1 NA19006.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0003t0003 a0002c0005t0003	a0001c0001t0001g0038 a0001c0001t0002g0078 a0001c0001t0002g0131 others(5): Show a0001c0001t0001g0038 a0001c0001t0002g0078 a0001c0001t0002g0131 a0001c0001t0002g0216 a0001c0003t0002g0179 a0001c0003t0003g0135 a0001c0003t0003g0165 a0002c0005t0003g0207	8	362	0.0221	20	c.-41 others(39): Show c.-41-23871_-41-23870insTAGATGGATGGATGGATGGA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGGAAG others(13): Show GAAGGAAGGAAGGAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0138 a0001c0001t0005g0138	1	362	0.0028	20	c.70+ others(35): Show c.70+2181_70+2182insAGGAAGGAAGGAAGAAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGGAAG others(13): Show GAAGGAAGGAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02074.hp2 HG03704.hp2 others(1): Show HG01175.hp2 HG02074.hp2 HG03704.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0021 a0001c0001 a0001c0003 a0001c0021	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0001c0021t0001	a0001c0001t0001g0287 a0001c0001t0005g0127 a0001c0003t0001g0240 others(1): Show a0001c0001t0001g0287 a0001c0001t0005g0127 a0001c0003t0001g0240 a0001c0021t0001g0111	4	362	0.0111	20	c.70+ others(35): Show c.70+2181_70+2182insAGGAAGGAAGGAAGGAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743423	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01123.hp1 HG01123.hp2 others(20): Show HG00673.hp1 HG01123.hp1 HG01123.hp2 HG01433.hp1 HG01975.hp2 HG02135.hp2 HG02148.hp2 HG02559.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02896.hp2 HG02897.hp1 HG03579.hp2 HG03688.hp1 NA18612.hp1 NA18951.hp2 NA18991.hp2 NA18994.hp1 NA18998.hp1 NA19090.hp1 NA19240.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0005 others(2): Show a0002c0002 a0002c0004 a0002c0005 a0002c0007 a0002c0008	a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 others(14): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0008 a0002c0002t0012 a0002c0002t0016 a0002c0002t0038 a0002c0004t0001 a0002c0004t0031 a0002c0005t0001 a0002c0005t0003 a0002c0005t0016 a0002c0007t0007 a0002c0007t0008 a0002c0007t0011 a0002c0007t0014 a0002c0008t0002	a0002c0002t0001g0144 a0002c0002t0004g0105 a0002c0002t0005g0250 others(20): Show a0002c0002t0001g0144 a0002c0002t0004g0105 a0002c0002t0005g0250 a0002c0002t0008g0106 a0002c0002t0012g0162 a0002c0002t0012g0259 a0002c0002t0016g0143 a0002c0002t0038g0166 a0002c0004t0001g0065 a0002c0004t0001g0265 a0002c0004t0031g0333 a0002c0005t0001g0022 a0002c0005t0001g0215 a0002c0005t0003g0070 a0002c0005t0003g0207 a0002c0005t0016g0072 a0002c0007t0007g0247 a0002c0007t0007g0341 a0002c0007t0008g0025 a0002c0007t0011g0004 a0002c0007t0014g0182 a0002c0008t0002g0012 a0002c0008t0002g0014	23	362	0.0635	20	c.71- others(35): Show c.71-2575_71-2556dupTATATATATATATATATATA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743444	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG01074.hp1 others(2): Show HG00099.hp1 HG00438.hp1 HG01074.hp1 HG02165.hp1 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0005 a0002c0002 a0002c0004 a0002c0005	a0002c0002t0001 a0002c0002t0002 a0002c0002t0017 others(2): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0017 a0002c0004t0002 a0002c0005t0004	a0002c0002t0001g0021 a0002c0002t0002g0020 a0002c0002t0017g0055 others(2): Show a0002c0002t0001g0021 a0002c0002t0002g0020 a0002c0002t0017g0055 a0002c0004t0002g0315 a0002c0005t0004g0194	5	362	0.0138	20	c.71- others(35): Show c.71-2556_71-2555insTATATATATATATATATACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8773105	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	362	0.0028	20	c.954 others(35): Show c.954+212_954+231dupCACACACACACACACACACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69161706	G G	GGGTACAT others(13): Show GGGTACATTCATTTGAAAATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02976.hp2 HG03195.hp1 others(1): Show HG02717.hp1 HG02976.hp2 HG03195.hp1 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0130 others(1): Show a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0130 a0003c0003t0001g0149	4	348	0.0115	20	c.336 others(39): Show c.3363+2348_3363+2367dupTATTTTCAAATGAATGTACC	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	27/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69162838	C C	CATATACA others(13): Show CATATACATATACATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0071 a0003c0003t0001g0071	1	348	0.0029	20	c.336 others(39): Show c.3363+1235_3363+1236insATATATATGTATATGTATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	27/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210847	C C	CACATATA others(13): Show CACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0009 a0008c0009t0009	a0008c0009t0009g0200 a0008c0009t0009g0200	1	348	0.0029	20	c.100 others(39): Show c.1006+3856_1006+3857insATATATATATATATATATGT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210847	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01884.hp1 others(5): Show HG01070.hp1 HG01071.hp2 HG01884.hp1 HG02040.hp2 HG02071.hp2 HG02895.hp1 HG03017.hp2 HG03490.hp2	a0003 a0004 a0003 a0004	a0003c0028 a0004c0004 a0003c0028 a0004c0004	a0003c0028t0006 a0004c0004t0003 a0003c0028t0006 a0004c0004t0003	a0003c0028t0006g0248 a0004c0004t0003g0005 a0004c0004t0003g0074 others(4): Show a0003c0028t0006g0248 a0004c0004t0003g0005 a0004c0004t0003g0074 a0004c0004t0003g0208 a0004c0004t0003g0209 a0004c0004t0003g0243 a0004c0004t0003g0304	8	348	0.0230	20	c.100 others(39): Show c.1006+3856_1006+3857insATATATATATATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69227114	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01169.hp1 HG02965.hp2 others(5): Show HG01069.hp2 HG01169.hp1 HG02965.hp2 HG03130.hp1 NA18960.hp1 NA18964.hp1 NA18985.hp2 NA18993.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0003c0025 a0004c0006 a0005c0013	a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 others(3): Show a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0003c0025t0001 a0004c0006t0003 a0005c0013t0001	a0001c0001t0002g0040 a0002c0002t0001g0038 a0002c0002t0001g0043 others(5): Show a0001c0001t0002g0040 a0002c0002t0001g0038 a0002c0002t0001g0043 a0003c0003t0001g0041 a0003c0025t0001g0042 a0004c0006t0003g0044 a0004c0006t0003g0045 a0005c0013t0001g0039	8	348	0.0230	20	c.-17 others(35): Show c.-172+30_-172+31insATATATATATATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	2/38			chr17	TogoVar
ABCA12_chr2_214926542_215143626	214989187	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02451.hp1 HG02523.hp2 others(7): Show HG01123.hp2 HG02451.hp1 HG02523.hp2 HG03225.hp1 NA18906.hp2 NA19000.hp1 NA19007.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0002 a0001c0003 a0001c0006 others(5): Show a0001c0002 a0001c0003 a0001c0006 a0001c0016 a0002c0013 a0003c0020 a0003c0065 a0008c0028	a0001c0002t0001 a0001c0003t0001 a0001c0006t0002 others(6): Show a0001c0002t0001 a0001c0003t0001 a0001c0006t0002 a0001c0016t0002 a0002c0013t0018 a0003c0020t0003 a0003c0020t0008 a0003c0065t0001 a0008c0028t0003	a0001c0002t0001g0051 a0001c0002t0001g0151 a0001c0003t0001g0036 others(7): Show a0001c0002t0001g0051 a0001c0002t0001g0151 a0001c0003t0001g0036 a0001c0006t0002g0116 a0001c0016t0002g0086 a0002c0013t0018g0002 a0003c0020t0003g0108 a0003c0020t0008g0197 a0003c0065t0001g0103 a0008c0028t0003g0081	10	198	0.0505	20	c.382 others(37): Show c.3829+122_3829+141dupATATATATATATATATATAT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	26/52			chr2	TogoVar

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