Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0093 a0002c0004t0003g0093	1	361	0.0028	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 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0049 others(5): Show a0001c0001 a0001c0002 a0001c0049 a0002c0004 a0002c0007 a0002c0021 a0002c0059 a0007c0015	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0049t0002 a0002c0004t0003 a0002c0007t0003 a0002c0021t0001 a0002c0059t0003 a0007c0015t0003 a0007c0015t0004	a0001c0001t0001g0087 a0001c0001t0001g0344 a0001c0001t0003g0003 others(13): Show a0001c0001t0001g0087 a0001c0001t0001g0344 a0001c0001t0003g0003 a0001c0002t0002g0063 a0001c0049t0002g0070 a0002c0004t0003g0082 a0002c0004t0003g0086 a0002c0004t0003g0119 a0002c0004t0003g0120 a0002c0007t0003g0085 a0002c0007t0003g0088 a0002c0021t0001g0223 a0002c0059t0003g0231 a0007c0015t0003g0026 a0007c0015t0003g0039 a0007c0015t0004g0276	17	280	0.0607	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(10): Show a0001 a0002 a0003 a0004 a0010 a0014 a0016 a0018 a0021 a0022 a0024 a0029 a0032	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0050 a0002c0021 a0003c0009 a0004c0006 a0010c0054 a0014c0035 a0016c0016 a0018c0023 a0021c0028 a0022c0058 a0024c0039 a0029c0041 a0032c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0005t0002 a0001c0050t0004 a0002c0021t0003 a0003c0009t0004 a0004c0006t0001 a0010c0054t0005 a0014c0035t0002 a0016c0016t0002 a0018c0023t0001 a0021c0028t0002 a0022c0058t0001 a0024c0039t0001 a0029c0041t0005 a0032c0036t0002	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0112 others(83): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0112 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0146 a0001c0001t0001g0158 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0185 a0001c0001t0001g0210 a0001c0001t0001g0251 a0001c0001t0001g0275 a0001c0001t0001g0280 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0304 a0001c0001t0001g0326 a0001c0001t0001g0348 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0002g0107 a0001c0001t0002g0187 a0001c0001t0002g0307 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0003g0266 a0001c0001t0003g0273 a0001c0001t0008g0098 a0001c0001t0008g0099 a0001c0002t0001g0153 a0001c0002t0002g0016 a0001c0002t0002g0028 a0001c0002t0002g0045 a0001c0002t0002g0048 a0001c0002t0002g0096 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0129 a0001c0002t0002g0136 a0001c0002t0002g0140 a0001c0002t0002g0145 a0001c0002t0002g0159 a0001c0002t0002g0170 a0001c0002t0002g0207 a0001c0002t0002g0211 a0001c0002t0002g0217 a0001c0002t0002g0240 a0001c0002t0002g0248 a0001c0002t0002g0272 a0001c0002t0002g0285 a0001c0002t0002g0287 a0001c0002t0002g0306 a0001c0002t0002g0309 a0001c0002t0002g0317 a0001c0002t0002g0338 a0001c0003t0001g0246 a0001c0003t0002g0226 a0001c0003t0002g0357 a0001c0003t0003g0221 a0001c0005t0002g0009 a0001c0005t0002g0230 a0001c0005t0002g0242 a0001c0005t0002g0250 a0001c0005t0002g0262 a0001c0005t0002g0323 a0001c0050t0004g0313 a0002c0021t0003g0320 a0003c0009t0004g0156 a0004c0006t0001g0077 a0004c0006t0001g0224 a0010c0054t0005g0312 a0014c0035t0002g0213 a0016c0016t0002g0018 a0016c0016t0002g0029 a0018c0023t0001g0247 a0018c0023t0001g0252 a0021c0028t0002g0066 a0021c0028t0002g0113 a0022c0058t0001g0244 a0024c0039t0001g0200 a0029c0041t0005g0359 a0032c0036t0002g0110	86	193	0.4456	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	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	415	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	a0001c0001t0004g0336 a0001c0002t0009g0246 a0002c0003t0001g0256 others(4): Show a0001c0001t0004g0336 a0001c0002t0009g0246 a0002c0003t0001g0256 a0002c0003t0001g0275 a0002c0008t0001g0270 a0004c0005t0010g0272 a0005c0006t0001g0394	7	18	0.3889	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 a0001c0001t0002g0004 a0001c0001t0002g0147 others(22): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0153 a0001c0001t0002g0164 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0189 a0001c0001t0002g0208 a0001c0001t0002g0227 a0001c0001t0004g0392 a0001c0001t0007g0062 a0001c0001t0016g0075 a0001c0002t0003g0084 a0001c0002t0006g0118 a0002c0003t0001g0146 a0002c0003t0001g0176 a0002c0003t0001g0257 a0002c0008t0001g0339 a0005c0006t0001g0260 a0005c0006t0001g0261 a0005c0006t0001g0394	27	100	0.2700	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	a0001c0002t0003g0015 a0001c0002t0005g0096 a0001c0002t0005g0099 a0001c0002t0003g0015 a0001c0002t0005g0096 a0001c0002t0005g0099	3	123	0.0244	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	a0001c0002t0003g0018 a0001c0002t0003g0081 a0001c0002t0003g0018 a0001c0002t0003g0081	2	122	0.0164	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(53): 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	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0007 a0001c0001 a0002c0002 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0001t0023 a0002c0002t0001 a0005c0007t0004	a0001c0001t0001g0031 a0001c0001t0002g0015 a0001c0001t0002g0036 others(25): Show a0001c0001t0001g0031 a0001c0001t0002g0015 a0001c0001t0002g0036 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0003g0064 a0001c0001t0003g0067 a0001c0001t0003g0138 a0001c0001t0004g0006 a0001c0001t0004g0054 a0001c0001t0004g0127 a0001c0001t0004g0134 a0001c0001t0004g0145 a0001c0001t0004g0148 a0001c0001t0005g0049 a0001c0001t0005g0071 a0001c0001t0006g0002 a0001c0001t0008g0033 a0001c0001t0013g0032 a0001c0001t0013g0068 a0001c0001t0023g0147 a0002c0002t0001g0030 a0002c0002t0001g0055 a0002c0002t0001g0144 a0005c0007t0004g0006	56	149	0.3758	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	a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0045 others(1): Show a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0045 a0001c0003t0004g0036	4	177	0.0226	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 a0001c0001t0001g0231 a0001c0001t0001g0232 others(2): Show a0001c0001t0001g0068 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0002g0055 a0001c0001t0002g0062	5	287	0.0174	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	a0002c0002t0003g0001 a0003c0005t0004g0313 a0002c0002t0003g0001 a0003c0005t0004g0313	2	245	0.0082	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	a0002c0002t0003g0028 a0002c0002t0003g0028	1	244	0.0041	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	a0001c0001t0002g0069 a0001c0001t0002g0069	1	244	0.0041	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	a0001c0001t0004g0031 a0001c0001t0004g0031	1	244	0.0041	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	a0002c0002t0003g0001 a0002c0002t0003g0004 a0002c0002t0003g0009 others(4): Show a0002c0002t0003g0001 a0002c0002t0003g0004 a0002c0002t0003g0009 a0002c0002t0003g0025 a0002c0002t0003g0027 a0002c0002t0003g0146 a0002c0002t0003g0162	9	279	0.0323	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	a0001c0001t0002g0078 a0001c0001t0005g0207 a0001c0001t0002g0078 a0001c0001t0005g0207	2	8	0.2500	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	a0001c0001t0005 a0001c0001t0007 a0001c0001t0020 others(14): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0020 a0001c0004t0001 a0001c0004t0017 a0001c0004t0064 a0001c0004t0066 a0001c0004t0141 a0001c0008t0065 a0001c0008t0092 a0001c0008t0093 a0001c0009t0136 a0002c0002t0003 a0002c0002t0034 a0002c0002t0047 a0004c0012t0057 a0005c0010t0009	a0001c0001t0005g0197 a0001c0001t0007g0198 a0001c0001t0007g0219 others(17): Show a0001c0001t0005g0197 a0001c0001t0007g0198 a0001c0001t0007g0219 a0001c0001t0020g0200 a0001c0004t0001g0135 a0001c0004t0017g0066 a0001c0004t0064g0072 a0001c0004t0066g0067 a0001c0004t0141g0274 a0001c0008t0065g0102 a0001c0008t0092g0129 a0001c0008t0093g0138 a0001c0009t0136g0191 a0002c0002t0003g0019 a0002c0002t0003g0030 a0002c0002t0003g0047 a0002c0002t0034g0001 a0002c0002t0047g0046 a0004c0012t0057g0080 a0005c0010t0009g0153	20	89	0.2247	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	a0001c0001t0002 a0001c0001t0013 a0002c0002t0002 a0001c0001t0002 a0001c0001t0013 a0002c0002t0002	a0001c0001t0002g0078 a0001c0001t0013g0176 a0002c0002t0002g0052 a0001c0001t0002g0078 a0001c0001t0013g0176 a0002c0002t0002g0052	3	179	0.0168	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	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0228 a0002c0002t0006g0228	1	96	0.0104	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	a0001c0006t0016g0286 a0001c0006t0016g0286	1	96	0.0104	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	a0001c0001t0006g0001 a0001c0001t0006g0001	2	295	0.0068	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	a0002c0004t0001g0333 a0002c0004t0001g0333	1	38	0.0263	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	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0002g0178 others(7): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0002g0178 a0002c0004t0001g0341 a0002c0004t0001g0342 a0002c0004t0001g0344 a0002c0004t0001g0347 a0002c0004t0001g0350 a0002c0004t0001g0352 a0002c0004t0001g0354	10	103	0.0971	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	a0001c0001t0001g0087 a0001c0001t0001g0116 a0001c0001t0001g0087 a0001c0001t0001g0116	2	221	0.0090	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	a0001c0001t0001g0141 a0001c0001t0001g0141	1	220	0.0045	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	a0001c0001t0001g0053 a0001c0001t0001g0076 a0001c0001t0001g0099 others(4): Show a0001c0001t0001g0053 a0001c0001t0001g0076 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0113 a0001c0001t0001g0136 a0001c0001t0001g0139	7	226	0.0310	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	a0001c0001t0001g0073 a0001c0001t0001g0073	1	220	0.0045	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	a0001c0002t0004g0150 a0001c0002t0004g0150	1	342	0.0029	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	a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0083 others(1): Show a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0083 a0001c0001t0001g0119	4	308	0.0130	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	a0001c0001t0001g0117 a0001c0001t0001g0117	1	154	0.0065	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	124	0.0323	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 a0007 others(2): Show a0002 a0003 a0007 a0012 a0014	a0002c0002 a0003c0003 a0007c0009 others(2): Show a0002c0002 a0003c0003 a0007c0009 a0012c0023 a0014c0022	a0002c0002t0001 a0003c0003t0002 a0007c0009t0004 others(2): Show a0002c0002t0001 a0003c0003t0002 a0007c0009t0004 a0012c0023t0002 a0014c0022t0001	a0002c0002t0001g0017 a0002c0002t0001g0105 a0002c0002t0001g0110 others(17): Show a0002c0002t0001g0017 a0002c0002t0001g0105 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0003c0003t0002g0003 a0003c0003t0002g0042 a0003c0003t0002g0278 a0003c0003t0002g0279 a0003c0003t0002g0295 a0003c0003t0002g0296 a0003c0003t0002g0297 a0003c0003t0002g0327 a0003c0003t0002g0328 a0007c0009t0004g0331 a0012c0023t0002g0043 a0014c0022t0001g0109	24	144	0.1667	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	a0001c0001t0001g0154 a0001c0001t0003g0035 a0001c0001t0003g0266 others(3): Show a0001c0001t0001g0154 a0001c0001t0003g0035 a0001c0001t0003g0266 a0001c0001t0003g0307 a0001c0001t0003g0317 a0001c0001t0033g0066	7	99	0.0707	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	117	0.0171	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	239	0.0084	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	a0002c0004t0001g0057 a0002c0006t0005g0058 a0002c0004t0001g0057 a0002c0006t0005g0058	2	104	0.0192	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	a0001c0001t0001g0269 a0001c0001t0002g0146 a0001c0001t0003g0164 others(16): Show a0001c0001t0001g0269 a0001c0001t0002g0146 a0001c0001t0003g0164 a0001c0001t0004g0097 a0001c0003t0001g0090 a0001c0003t0003g0069 a0001c0003t0003g0073 a0001c0003t0003g0089 a0001c0003t0003g0123 a0002c0002t0001g0026 a0002c0002t0001g0077 a0002c0002t0001g0163 a0002c0002t0002g0137 a0002c0002t0002g0191 a0002c0002t0009g0186 a0002c0002t0029g0201 a0002c0004t0001g0112 a0002c0004t0003g0190 a0002c0005t0001g0208	19	120	0.1583	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	a0001c0001t0001g0031 a0001c0001t0002g0062 a0001c0001t0002g0065 others(5): Show a0001c0001t0001g0031 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0207 a0001c0003t0002g0172 a0001c0003t0003g0071 a0001c0003t0003g0153 a0002c0005t0003g0200	8	109	0.0734	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	a0001c0001t0005g0075 a0001c0001t0005g0075	1	72	0.0139	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	a0001c0001t0001g0282 a0001c0001t0005g0056 a0001c0003t0001g0235 others(1): Show a0001c0001t0001g0282 a0001c0001t0005g0056 a0001c0003t0001g0235 a0001c0021t0001g0120	4	75	0.0533	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(19): 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	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	a0002c0002t0001g0081 a0002c0002t0004g0110 a0002c0002t0005g0245 others(19): Show a0002c0002t0001g0081 a0002c0002t0004g0110 a0002c0002t0005g0245 a0002c0002t0008g0111 a0002c0002t0012g0158 a0002c0002t0012g0254 a0002c0002t0016g0080 a0002c0002t0038g0154 a0002c0004t0001g0112 a0002c0004t0001g0260 a0002c0004t0031g0328 a0002c0005t0001g0209 a0002c0005t0003g0130 a0002c0005t0003g0200 a0002c0005t0016g0143 a0002c0007t0007g0242 a0002c0007t0007g0336 a0002c0007t0008g0241 a0002c0007t0011g0004 a0002c0007t0014g0175 a0002c0008t0002g0012 a0002c0008t0002g0014	22	295	0.0746	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 a0002c0002t0017g0048 others(2): Show a0002c0002t0001g0021 a0002c0002t0002g0020 a0002c0002t0017g0048 a0002c0004t0002g0310 a0002c0005t0004g0187	5	103	0.0485	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	28	0.0357	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	a0003c0003t0001g0131 a0003c0003t0001g0132 a0003c0003t0001g0133 others(1): Show a0003c0003t0001g0131 a0003c0003t0001g0132 a0003c0003t0001g0133 a0003c0003t0001g0152	4	346	0.0116	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	a0003c0003t0001g0074 a0003c0003t0001g0074	1	157	0.0064	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	a0008c0009t0009g0201 a0008c0009t0009g0201	1	244	0.0041	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	a0003c0028t0006g0249 a0004c0004t0003g0007 a0004c0004t0003g0077 others(4): Show a0003c0028t0006g0249 a0004c0004t0003g0007 a0004c0004t0003g0077 a0004c0004t0003g0209 a0004c0004t0003g0210 a0004c0004t0003g0244 a0004c0004t0003g0303	8	251	0.0319	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	a0001c0001t0002g0043 a0002c0002t0001g0041 a0002c0002t0001g0046 others(5): Show a0001c0001t0002g0043 a0002c0002t0001g0041 a0002c0002t0001g0046 a0003c0003t0001g0044 a0003c0025t0001g0045 a0004c0006t0003g0047 a0004c0006t0003g0048 a0005c0013t0001g0042	8	211	0.0379	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 a0009	a0001c0002 a0001c0003 a0001c0006 others(5): Show a0001c0002 a0001c0003 a0001c0006 a0001c0016 a0002c0013 a0003c0020 a0003c0065 a0009c0028	a0001c0002t0001 a0001c0003t0001 a0001c0006t0002 others(6): Show a0001c0002t0001 a0001c0003t0001 a0001c0006t0002 a0001c0016t0002 a0002c0013t0018 a0003c0020t0003 a0003c0020t0008 a0003c0065t0001 a0009c0028t0003	a0001c0002t0001g0051 a0001c0002t0001g0151 a0001c0003t0001g0036 others(7): Show a0001c0002t0001g0051 a0001c0002t0001g0151 a0001c0003t0001g0036 a0001c0006t0002g0127 a0001c0016t0002g0086 a0002c0013t0018g0002 a0003c0020t0003g0108 a0003c0020t0008g0197 a0003c0065t0001g0104 a0009c0028t0003g0081	10	34	0.2941	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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