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
ASCC1_chr10_72091032_72221276	72220341	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0007 a0009c0009t0007	a0009c0009t0007g0160 a0009c0009t0007g0160	1	216	0.0046	11	c.-41 others(22): Show c.-4169_-4168insCTTTTTTTTTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		4066		chr10	TogoVar
ASCC3_chr6_100503194_100886329	100597809	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19088.hp2 NA19085.hp2 NA19088.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0013 a0002c0003t0002g0016 a0002c0003t0002g0013 a0002c0003t0002g0016	2	314	0.0064	11	c.530 others(30): Show c.5303+3990_5303+4000dupTTTTTTTTTTT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	34/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608398	C C	CTTATATA others(4): Show CTTATATATATT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0125 a0001c0002t0003g0125	1	314	0.0032	11	c.478 others(30): Show c.4786-1311_4786-1310insAATATATATAA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608451	A A	ATATATAT others(4): Show ATATATATACCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0002 a0012c0018t0002	a0012c0018t0002g0005 a0012c0018t0002g0005	1	314	0.0032	11	c.478 others(30): Show c.4786-1364_4786-1363insAGGTATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608462	C C	CCTTATAT others(4): Show CCTTATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0016 a0016	a0016c0017 a0016c0017	a0016c0017t0003 a0016c0017t0003	a0016c0017t0003g0133 a0016c0017t0003g0133	1	314	0.0032	11	c.478 others(30): Show c.4786-1375_4786-1374insATATATATAAG	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608462	C C	CTTTATAT others(4): Show CTTTATATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0124 a0001c0002t0003g0124	1	314	0.0032	11	c.478 others(30): Show c.4786-1385_4786-1375dupATATATATAAA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608578	A A	ATATATAC others(4): Show ATATATACACTT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0161 a0001c0006t0005g0161	1	314	0.0032	11	c.478 others(30): Show c.4786-1491_4786-1490insAAGTGTATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100677337	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp2 HG02083.hp2 others(7): Show HG00280.hp2 HG00609.hp2 HG02083.hp2 HG02129.hp1 HG03942.hp2 NA18612.hp2 NA18943.hp1 NA18945.hp2 NA19007.hp1 NA19068.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0161 a0001c0006t0005g0162 a0001c0006t0005g0163 others(7): Show a0001c0006t0005g0161 a0001c0006t0005g0162 a0001c0006t0005g0163 a0001c0006t0005g0164 a0001c0006t0005g0165 a0001c0006t0005g0166 a0001c0006t0005g0167 a0001c0006t0005g0168 a0001c0006t0005g0169 a0001c0006t0005g0170	10	314	0.0319	11	c.228 others(30): Show c.2286+2280_2286+2281insTTTTTTTTTTT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	14/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100723902	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0187 a0003c0004t0004g0187	1	314	0.0032	11	c.190 others(30): Show c.1902+1636_1902+1637insATATATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	11/41			chr6	TogoVar
ASGR2_chr17_7096326_7119822	7104348	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00738.hp2 HG01168.hp2 others(15): Show HG00609.hp1 HG00738.hp2 HG01168.hp2 HG01516.hp1 HG01517.hp1 HG02056.hp1 HG02148.hp1 HG02683.hp2 HG03098.hp1 HG03704.hp1 NA18747.hp1 NA18961.hp2 NA18983.hp2 NA18990.hp2 NA19062.hp2 NA19072.hp1 NA19080.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0017 a0001c0001 a0001c0002 a0001c0017	a0001c0001t0005 a0001c0001t0014 a0001c0002t0001 others(3): Show a0001c0001t0005 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0017t0001	a0001c0001t0005g0267 a0001c0001t0005g0269 a0001c0001t0005g0270 others(13): Show a0001c0001t0005g0267 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0273 a0001c0001t0014g0295 a0001c0002t0001g0228 a0001c0002t0002g0073 a0001c0002t0003g0019 a0001c0002t0003g0280 a0001c0002t0003g0287 a0001c0002t0003g0288 a0001c0002t0003g0291 a0001c0002t0003g0298 a0001c0017t0001g0248	18	432	0.0417	11	c.649 others(28): Show c.649-2163_649-2153dupTTTTTTTTTTT	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	7/8			chr17	TogoVar
ASH2L_chr8_38100529_38145080	38126853	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(243): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0002c0006 a0003c0005 a0004c0007	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(12): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0004t0001 a0001c0008t0001 a0002c0006t0001 a0003c0005t0001 a0004c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(235): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0006g0020 a0001c0001t0007g0204 a0001c0001t0008g0258 a0001c0001t0009g0009 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0061 a0001c0002t0001g0270 a0001c0003t0001g0023 a0001c0003t0001g0247 a0001c0003t0002g0262 a0001c0003t0004g0306 a0001c0003t0005g0305 a0001c0004t0001g0082 a0001c0008t0001g0079 a0002c0006t0001g0302 a0002c0006t0001g0303 a0002c0006t0001g0304 a0003c0005t0001g0192 a0003c0005t0001g0193 a0003c0005t0001g0194 a0004c0007t0001g0234 a0004c0007t0001g0239	246	330	0.7455	11	c.116 others(30): Show c.1166-1432_1166-1431insAAAAAAAAAAA	ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASIC1_chr12_50052596_50088611	50071266	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03486.hp2 HG02258.hp1 HG03486.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0125 a0001c0007t0001g0126 a0001c0007t0001g0125 a0001c0007t0001g0126	2	324	0.0062	11	c.559 others(28): Show c.559-5939_559-5929dupTTTTTTTTTTT	ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
ASIC1_chr12_50052596_50088611	50085289	C C	CGGGCGCT others(4): Show CGGGCGCTCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 NA18981.hp1 NA19011.hp1 others(1): Show HG00438.hp1 NA18981.hp1 NA19011.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0002 a0001c0005t0001 a0001c0001t0001 a0001c0002t0002 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0002t0002g0048 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0002t0002g0048 a0001c0005t0001g0001	4	324	0.0124	11	c.36 others(22): Show c.3640_*3641insGGGCGCTCGGG	ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding		1679		chr12	TogoVar
ASIC2_chr17_33008087_33298295	33032440	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0214 a0002c0003t0002g0214	1	240	0.0042	11	c.988 others(28): Show c.988-4059_988-4049dupAAAAAAAAAAA	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	3/9			chr17	TogoVar
ASIP_chr20_34236423_34274344	34269946	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG02559.hp2 HG02895.hp2 others(1): Show HG00738.hp1 HG02559.hp2 HG02895.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0042 others(1): Show a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0042 a0001c0001t0002g0189	4	306	0.0131	11	c.77 others(20): Show c.779_*780insAAAAAAAAAAA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding		603		chr20	TogoVar
ASNS_chr7_97846677_97877408	97862691	A A	AGGGAGGG others(4): Show AGGGAGGGGGCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	436	0.0023	11	c.487 others(28): Show c.487+1567_487+1568insAGCCCCCTCCC	ASNS	ENSG00000070669.17	transcript	ENST00000394308.8	protein_coding	4/12			chr7	TogoVar
ASPDH_chr19_50506603_50518913	50510051	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01175.hp2 HG01934.hp1 others(8): Show HG01109.hp2 HG01175.hp2 HG01934.hp1 HG01981.hp1 HG02622.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG03098.hp1 NA18906.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006	11	372	0.0296	11	c.16 others(22): Show c.1668_*1678dupTTTTTTTTTTT	ASPDH	ENSG00000204653.10	transcript	ENST00000389208.9	protein_coding		1551		chr19	TogoVar
ASPHD2_chr22_26424260_26450015	26443634	A A	AAAAAAAA others(4): Show AAAAAAAAAACT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18951.hp2 NA18956.hp1 NA18951.hp2 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0068 a0001c0001t0022g0143 a0001c0001t0022g0068 a0001c0001t0022g0143	2	428	0.0047	11	c.43 others(20): Show c.431_*432insAAAAAACTAAA	ASPHD2	ENSG00000128203.7	transcript	ENST00000215906.6	protein_coding	4/4	432	INFO_REALIGN_3_PRIME	chr22	TogoVar
ASPH_chr8_61495556_61719592	61523664	T T	TATTTTCT others(4): Show TATTTTCTAGTA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01256.hp1 HG01099.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0108 a0001c0001t0001g0115	2	258	0.0078	11	c.190 others(30): Show c.1900+2312_1900+2313insTACTAGAAAAT	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	22/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61617604	A A	AAGCACAA others(4): Show AAGCACAATAAC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	258	0.0039	11	c.976 others(28): Show c.976+1373_976+1374insGTTATTGTGCT	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	14/24			chr8	TogoVar
ASPM_chr1_197079127_197151669	197148333	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00741.hp2 others(11): Show HG00140.hp1 HG00639.hp2 HG00741.hp2 HG01074.hp2 HG02056.hp2 HG03540.hp1 NA18952.hp1 NA18998.hp2 NA19002.hp1 NA19079.hp1 NA19086.hp1 NA19089.hp2 NA20129.hp2 NA20905.hp2	a0002 a0012 a0016 others(1): Show a0002 a0012 a0016 a0028	a0002c0002 a0012c0009 a0016c0023 others(1): Show a0002c0002 a0012c0009 a0016c0023 a0028c0032	a0002c0002t0001 a0012c0009t0006 a0016c0023t0001 others(1): Show a0002c0002t0001 a0012c0009t0006 a0016c0023t0001 a0028c0032t0002	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0010 others(4): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0161 a0012c0009t0006g0037 a0016c0023t0001g0030 a0028c0032t0002g0085	14	296	0.0473	11	c.-18 others(22): Show c.-1897_-1896insTTTTTTTTTTT	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding		1665		chr1	TogoVar
ASPSCR1_chr17_81972629_82022406	81984831	C C	CACACACC others(4): Show CACACACCCCTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0177 a0001c0004t0001g0177	1	366	0.0027	11	c.274 others(26): Show c.274-676_274-675insACACACCCCTG	ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding	3/15			chr17	TogoVar
ASRGL1_chr11_62332448_62398412	62362585	A A	ACATATAT others(4): Show ACATATATTATT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18939.hp2 HG02056.hp1 NA18939.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0040 a0001c0005t0041 a0001c0005t0040 a0001c0005t0041	a0001c0005t0040g0314 a0001c0005t0041g0313 a0001c0005t0040g0314 a0001c0005t0041g0313	2	370	0.0054	11	c.491 others(28): Show c.491+5441_491+5442insCATATATTATT	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6			chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62362813	T T	TAACACAC others(4): Show TAACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0147 a0001c0001t0028g0147	1	370	0.0027	11	c.491 others(28): Show c.491+5670_491+5671insACACACACACA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62375481	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0062 a0001c0001t0013g0062	1	370	0.0027	11	c.492 others(30): Show c.492-13652_492-13651insATATATATATA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6			chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62383602	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03017.hp2 NA18971.hp2 others(4): Show HG02056.hp2 HG03017.hp2 NA18971.hp2 NA18992.hp2 NA19068.hp1 NA19074.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0025 a0001c0001t0003 a0001c0001t0011 a0001c0001t0025	a0001c0001t0003g0008 a0001c0001t0003g0136 a0001c0001t0003g0161 others(4): Show a0001c0001t0003g0008 a0001c0001t0003g0136 a0001c0001t0003g0161 a0001c0001t0011g0138 a0001c0001t0011g0150 a0001c0001t0011g0152 a0001c0001t0025g0145	7	370	0.0189	11	c.492 others(28): Show c.492-5515_492-5505dupAAAAAAAAAAA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASS1_chr9_130439961_130506274	130455128	T T	TCATCCAT others(4): Show TCATCCATCATC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02055.hp2 HG02109.hp2 others(22): Show HG01496.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02615.hp2 HG02622.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp2 NA19043.hp1 NA19240.hp2 NA20300.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0008c0011 a0001c0001 a0001c0003 a0008c0011	a0001c0001t0001 a0001c0003t0001 a0008c0011t0001 a0001c0001t0001 a0001c0003t0001 a0008c0011t0001	a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0135 others(21): Show a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0194 a0001c0001t0001g0326 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0341 a0001c0001t0001g0358 a0001c0003t0001g0339 a0008c0011t0001g0166	25	374	0.0668	11	c.174 others(26): Show c.174+764_174+774dupATCCATCCATC	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASTN1_chr1_176856067_177169712	176922556	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA18974.hp2 HG00140.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0051 a0001c0001t0002g0041 a0001c0001t0002g0051	2	112	0.0179	11	c.267 others(32): Show c.2671+11585_2671+11595dupTTTTTTTTTTT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	16/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	177149485	A A	AATATATA others(4): Show AATATATATAGT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0104 a0001c0003t0008g0104	1	112	0.0089	11	c.283 others(30): Show c.283+14898_283+14908dupACTATATATAT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	1/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	177149509	A A	AATATATA others(4): Show AATATATATAGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp1 HG03225.hp1 others(1): Show HG02257.hp1 HG02717.hp1 HG03225.hp1 NA18960.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0008 a0002c0011 others(1): Show a0001c0001 a0002c0008 a0002c0011 a0003c0010	a0001c0001t0001 a0002c0008t0003 a0002c0011t0009 others(1): Show a0001c0001t0001 a0002c0008t0003 a0002c0011t0009 a0003c0010t0006	a0001c0001t0001g0058 a0002c0008t0003g0056 a0002c0011t0009g0040 others(1): Show a0001c0001t0001g0058 a0002c0008t0003g0056 a0002c0011t0009g0040 a0003c0010t0006g0038	4	112	0.0357	11	c.283 others(30): Show c.283+14874_283+14884dupACTATATATAT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	1/22			chr1	TogoVar
ASTN2_chr9_116418112_117420057	116439194	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0004 a0003c0016t0004	a0003c0016t0004g0027 a0003c0016t0004g0027	1	102	0.0098	11	c.378 others(30): Show c.3782+1404_3782+1414dupAAAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	22/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116557223	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0078 a0001c0001t0007g0078	1	102	0.0098	11	c.335 others(32): Show c.3355+61090_3355+61100dupTTTTTTTTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116597299	A A	ATTTTTGT others(4): Show ATTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01169.hp2 HG01243.hp1 others(12): Show HG01081.hp2 HG01169.hp2 HG01243.hp1 HG01261.hp1 HG02922.hp1 HG03540.hp2 HG04199.hp1 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19065.hp1 NA19066.hp2 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0003c0019	a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 others(8): Show a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0010 a0001c0005t0005 a0001c0009t0004 a0001c0009t0008 a0003c0019t0002	a0001c0001t0004g0060 a0001c0001t0005g0096 a0001c0002t0001g0042 others(12): Show a0001c0001t0004g0060 a0001c0001t0005g0096 a0001c0002t0001g0042 a0001c0002t0002g0061 a0001c0002t0003g0022 a0001c0002t0004g0047 a0001c0002t0004g0092 a0001c0003t0010g0052 a0001c0005t0005g0007 a0001c0005t0005g0048 a0001c0005t0005g0076 a0001c0005t0005g0084 a0001c0009t0004g0032 a0001c0009t0008g0088 a0003c0019t0002g0025	15	102	0.1471	11	c.335 others(32): Show c.3355+21024_3355+21025insAAAAACAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116632205	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01934.hp1 HG02886.hp1 others(4): Show HG01496.hp2 HG01934.hp1 HG02886.hp1 HG03041.hp1 HG03130.hp2 HG03239.hp2 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0008 others(1): Show a0001c0002 a0001c0003 a0001c0008 a0002c0004	a0001c0002t0003 a0001c0002t0004 a0001c0003t0004 others(2): Show a0001c0002t0003 a0001c0002t0004 a0001c0003t0004 a0001c0008t0005 a0002c0004t0002	a0001c0002t0003g0066 a0001c0002t0003g0068 a0001c0002t0004g0043 others(4): Show a0001c0002t0003g0066 a0001c0002t0003g0068 a0001c0002t0004g0043 a0001c0002t0004g0091 a0001c0003t0004g0085 a0001c0008t0005g0081 a0002c0004t0002g0005	7	102	0.0686	11	c.307 others(32): Show c.3073-11763_3073-11762insCTTTCTTTCTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	17/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116775775	A A	AAGGAGGG others(4): Show AAGGAGGGAAGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG01261.hp2 others(12): Show HG00099.hp2 HG00735.hp1 HG01261.hp2 HG01496.hp1 HG01891.hp1 HG02451.hp2 HG02559.hp2 HG02922.hp1 HG03209.hp2 HG03540.hp1 NA18959.hp2 NA19012.hp1 NA19043.hp1 NA20752.hp1 NA20752.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0007c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0016 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0003t0002 a0001c0003t0003 a0001c0003t0014 a0001c0005t0005 a0001c0007t0001 a0007c0018t0003	a0001c0001t0001g0099 a0001c0001t0002g0070 a0001c0001t0005g0077 others(12): Show a0001c0001t0001g0099 a0001c0001t0002g0070 a0001c0001t0005g0077 a0001c0001t0016g0075 a0001c0002t0001g0093 a0001c0002t0003g0021 a0001c0002t0004g0043 a0001c0002t0004g0062 a0001c0003t0002g0044 a0001c0003t0003g0030 a0001c0003t0014g0083 a0001c0005t0005g0007 a0001c0005t0005g0084 a0001c0007t0001g0011 a0007c0018t0003g0031	15	102	0.1471	11	c.239 others(32): Show c.2396+29846_2396+29856dupCCTTCCCTCCT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116775778	G G	GAGGGAAG others(4): Show GAGGGAAGGAGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0073 a0001c0008t0005g0073	1	102	0.0098	11	c.239 others(32): Show c.2396+29853_2396+29854insTCTCCTTCCCT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116790955	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	102	0.0098	11	c.239 others(32): Show c.2396+14676_2396+14677insCTTTCTTTCTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116803522	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0073 a0001c0008t0005g0073	1	102	0.0098	11	c.239 others(30): Show c.2396+2109_2396+2110insATATATATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116803522	A A	ATATATAT others(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0017 a0001c0003t0006g0017	1	102	0.0098	11	c.239 others(30): Show c.2396+2109_2396+2110insAAAAATATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116815804	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02004.hp1 HG03017.hp2 others(2): Show HG01258.hp2 HG02004.hp1 HG03017.hp2 HG03239.hp1 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0023 a0001c0002 a0001c0023	a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0002t0010 a0001c0023t0002	a0001c0002t0001g0067 a0001c0002t0003g0021 a0001c0002t0008g0024 others(2): Show a0001c0002t0001g0067 a0001c0002t0003g0021 a0001c0002t0008g0024 a0001c0002t0010g0064 a0001c0023t0002g0069	5	102	0.0490	11	c.220 others(30): Show c.2207+4802_2207+4812dupTTTTTTTTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	12/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116815815	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0075 a0001c0001t0016g0075	1	102	0.0098	11	c.220 others(30): Show c.2207+4801_2207+4802insGTTTTTTTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	12/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116815816	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	102	0.0098	11	c.220 others(30): Show c.2207+4800_2207+4801insGTTTTTTTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	12/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117016658	C C	CATATATA others(4): Show CATATATAGGTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02698.hp2 HG04199.hp2 HG01099.hp2 HG02698.hp2 HG04199.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0020 a0001c0001 a0006c0020	a0001c0001t0003 a0001c0001t0008 a0006c0020t0001 a0001c0001t0003 a0001c0001t0008 a0006c0020t0001	a0001c0001t0003g0090 a0001c0001t0008g0065 a0006c0020t0001g0039 a0001c0001t0003g0090 a0001c0001t0008g0065 a0006c0020t0001g0039	3	102	0.0294	11	c.142 others(30): Show c.1424-8400_1424-8399insAACCTATATAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	6/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117048963	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA20300.hp2 HG03540.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0005 a0001c0009t0008 a0001c0001t0005 a0001c0009t0008	a0001c0001t0005g0096 a0001c0009t0008g0088 a0001c0001t0005g0096 a0001c0009t0008g0088	2	102	0.0196	11	c.127 others(30): Show c.1277-9009_1277-8999dupAAAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117128371	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0001 a0001c0003t0012g0001	1	102	0.0098	11	c.116 others(32): Show c.1168+12944_1168+12954dupTTTTTTTTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117144660	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0014 a0001c0001t0006g0014	1	102	0.0098	11	c.101 others(30): Show c.1016-3193_1016-3183dupAAAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	3/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117215472	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00639.hp1 others(87): Show HG00099.hp1 HG00099.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG02004.hp1 HG02004.hp2 HG02109.hp1 HG02109.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG04199.hp1 HG04199.hp2 NA18906.hp1 NA18906.hp2 NA18959.hp1 NA18959.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(22): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0017 a0001c0021 a0001c0022 a0001c0023 a0001c0025 a0002c0004 a0003c0016 a0003c0019 a0004c0024 a0005c0015 a0006c0020 a0007c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0012 a0001c0003t0014 a0001c0005t0005 a0001c0006t0002 a0001c0007t0001 a0001c0008t0005 a0001c0009t0004 a0001c0009t0008 a0001c0010t0001 a0001c0010t0004 a0001c0011t0004 a0001c0012t0001 a0001c0013t0009 a0001c0014t0017 a0001c0017t0002 a0001c0021t0006 a0001c0022t0001 a0001c0023t0002 a0001c0025t0001 a0002c0004t0001 a0002c0004t0002 a0002c0004t0005 a0002c0004t0006 a0003c0016t0004 a0003c0019t0002 a0004c0024t0013 a0005c0015t0003 a0006c0020t0001 a0007c0018t0003	a0001c0001t0001g0034 a0001c0001t0001g0054 a0001c0001t0001g0095 others(87): Show a0001c0001t0001g0034 a0001c0001t0001g0054 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0002g0018 a0001c0001t0002g0040 a0001c0001t0002g0051 a0001c0001t0002g0070 a0001c0001t0003g0013 a0001c0001t0003g0063 a0001c0001t0003g0090 a0001c0001t0004g0060 a0001c0001t0005g0035 a0001c0001t0005g0077 a0001c0001t0005g0096 a0001c0001t0006g0014 a0001c0001t0006g0016 a0001c0001t0006g0079 a0001c0001t0007g0078 a0001c0001t0007g0087 a0001c0001t0008g0008 a0001c0001t0008g0065 a0001c0001t0011g0002 a0001c0001t0015g0045 a0001c0002t0001g0033 a0001c0002t0001g0036 a0001c0002t0001g0042 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0093 a0001c0002t0002g0023 a0001c0002t0002g0053 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0041 a0001c0002t0003g0066 a0001c0002t0003g0068 a0001c0002t0003g0094 a0001c0002t0004g0029 a0001c0002t0004g0043 a0001c0002t0004g0047 a0001c0002t0004g0062 a0001c0002t0004g0091 a0001c0002t0004g0092 a0001c0002t0008g0024 a0001c0002t0010g0064 a0001c0003t0001g0038 a0001c0003t0001g0055 a0001c0003t0003g0030 a0001c0003t0004g0085 a0001c0003t0005g0082 a0001c0003t0006g0017 a0001c0003t0006g0026 a0001c0003t0007g0071 a0001c0003t0007g0074 a0001c0003t0012g0001 a0001c0003t0014g0083 a0001c0005t0005g0007 a0001c0005t0005g0048 a0001c0005t0005g0076 a0001c0005t0005g0084 a0001c0006t0002g0012 a0001c0007t0001g0010 a0001c0008t0005g0081 a0001c0009t0004g0032 a0001c0009t0008g0088 a0001c0010t0001g0102 a0001c0010t0004g0009 a0001c0011t0004g0097 a0001c0012t0001g0098 a0001c0013t0009g0072 a0001c0014t0017g0050 a0001c0017t0002g0089 a0001c0021t0006g0056 a0001c0022t0001g0020 a0001c0023t0002g0069 a0001c0025t0001g0080 a0002c0004t0001g0004 a0002c0004t0002g0005 a0002c0004t0005g0006 a0002c0004t0006g0003 a0003c0016t0004g0027 a0003c0019t0002g0025 a0004c0024t0013g0101 a0005c0015t0003g0019 a0006c0020t0001g0039 a0007c0018t0003g0031	90	102	0.8824	11	c.631 others(26): Show c.631-741_631-731dupTATATATATAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	2/22			chr9	TogoVar
ASXL1_chr20_32353331_32444319	32379161	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0106 a0002c0003t0001g0106	1	282	0.0036	11	c.252 others(30): Show c.252+10069_252+10079dupTTTTTTTTTTT	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL1_chr20_32353331_32444319	32411031	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02258.hp1 HG02280.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0188 a0001c0005t0001g0277 a0001c0005t0001g0188 a0001c0005t0001g0277	2	282	0.0071	11	c.253 others(30): Show c.253-17092_253-17082dupAAAAAAAAAAA	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL3_chr18_33573219_33756195	33652603	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02559.hp1 others(19): Show HG01884.hp1 HG02257.hp1 HG02559.hp1 HG02630.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp2 HG03516.hp2 HG03688.hp2 HG03710.hp2 HG04199.hp2 NA18959.hp2 NA19066.hp1 NA21309.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0006c0025 a0001c0001 a0003c0003 a0006c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0003c0003t0024 a0003c0003t0059 a0003c0003t0073 a0006c0025t0077	a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0127 others(19): Show a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0127 a0001c0001t0002g0038 a0001c0001t0007g0011 a0001c0001t0007g0012 a0001c0001t0007g0013 a0001c0001t0007g0014 a0001c0001t0008g0019 a0001c0001t0008g0020 a0001c0001t0008g0022 a0001c0001t0008g0023 a0001c0001t0008g0024 a0001c0001t0011g0081 a0001c0001t0011g0122 a0001c0001t0012g0015 a0001c0001t0012g0016 a0001c0001t0012g0017 a0003c0003t0024g0021 a0003c0003t0059g0005 a0003c0003t0073g0009 a0006c0025t0077g0004	22	220	0.1000	11	c.355 others(28): Show c.355+6253_355+6263dupAAAAAAAAAAA	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar

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