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
HEATR5B_chr2_36975895_37089372	37037145	G G	GATATATA others(43): Show GATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02040.hp2 HG02129.hp1 others(2): Show HG01099.hp1 HG02040.hp2 HG02129.hp1 NA18942.hp2 NA18968.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0001 a0002c0003t0002 a0001c0004t0001 a0002c0003t0002	a0001c0004t0001g0033 a0001c0004t0001g0066 a0001c0004t0001g0098 others(2): Show a0001c0004t0001g0033 a0001c0004t0001g0066 a0001c0004t0001g0098 a0002c0003t0002g0174 a0002c0003t0002g0180	5	142	0.0352	50	c.321 others(67): Show c.3216+709_3216+710insATATATATATATATATATATATATATAT ATATATATATATATATATATAT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	21/35			chr2	TogoVar
HECTD1_chr14_31095117_31212793	31096676	C C	CATATATA others(43): Show CATATATATATATATATATATATATATATATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0009 a0001c0009t0003g0009	1	236	0.0042	50	c.42 others(61): Show c.4253_*4254insATATATATATATATATATATATATATATATATAT ATATATATATATATAT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding		3440		chr14	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(43): Show CACACACACACACACACACACACATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0104 a0001c0002t0104	a0001c0002t0104g0180 a0001c0002t0104g0180	1	138	0.0072	50	c.373 others(69): Show c.3733+2834_3733+2835insATATATATATATATATATATATATAT ATGTGTGTGTGTGTGTGTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(43): Show CACACACACACACACACACATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0035 a0002c0035	a0002c0035t0001 a0002c0035t0001	a0002c0035t0001g0103 a0002c0035t0001g0103	1	138	0.0072	50	c.373 others(69): Show c.3733+2834_3733+2835insATATATATATATATATATATATATAT ATATATGTGTGTGTGTGTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HEG1_chr3_124960710_125060997	125034192	T T	TTGATAAC others(43): Show TTGATAACATTCTAAGGAATAAGAAACCACAGTCAAAAATCACAAAATAC A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(177): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18973.hp2 NA18977.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp2 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1	a0001 a0004 a0005 others(24): Show a0001 a0004 a0005 a0008 a0009 a0012 a0013 a0014 a0018 a0020 a0022 a0023 a0024 a0025 a0026 a0027 a0030 a0031 a0034 a0035 a0037 a0038 a0039 a0041 a0044 a0046 a0048	a0001c0001 a0001c0002 a0001c0010 others(39): Show a0001c0001 a0001c0002 a0001c0010 a0001c0020 a0001c0085 a0004c0042 a0005c0006 a0005c0086 a0008c0009 a0008c0027 a0009c0016 a0009c0022 a0009c0056 a0009c0062 a0012c0019 a0012c0030 a0013c0017 a0013c0087 a0014c0097 a0018c0037 a0018c0088 a0020c0043 a0020c0096 a0022c0024 a0023c0031 a0024c0032 a0025c0036 a0026c0058 a0026c0059 a0027c0046 a0027c0047 a0030c0080 a0031c0093 a0034c0061 a0035c0066 a0037c0050 a0038c0079 a0039c0095 a0041c0051 a0044c0084 a0046c0063 a0048c0094	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 others(121): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0023 a0001c0001t0027 a0001c0001t0029 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0059 a0001c0001t0061 a0001c0001t0062 a0001c0001t0070 a0001c0001t0077 a0001c0001t0092 a0001c0001t0093 a0001c0001t0095 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0113 a0001c0001t0126 a0001c0001t0127 a0001c0002t0001 a0001c0002t0005 a0001c0002t0016 a0001c0002t0024 a0001c0002t0032 a0001c0002t0033 a0001c0002t0038 a0001c0002t0049 a0001c0002t0050 a0001c0002t0051 a0001c0002t0072 a0001c0002t0103 a0001c0002t0104 a0001c0002t0105 a0001c0002t0106 a0001c0002t0112 a0001c0002t0145 a0001c0010t0001 a0001c0010t0033 a0001c0010t0107 a0001c0020t0012 a0001c0020t0029 a0001c0020t0041 a0001c0085t0132 a0004c0042t0004 a0004c0042t0134 a0005c0006t0002 a0005c0006t0003 a0005c0006t0004 a0005c0006t0009 a0005c0006t0014 a0005c0006t0019 a0005c0006t0022 a0005c0006t0054 a0005c0006t0088 a0005c0006t0118 a0005c0086t0090 a0008c0009t0004 a0008c0009t0011 a0008c0009t0018 a0008c0009t0026 a0008c0009t0061 a0008c0009t0138 a0008c0027t0005 a0008c0027t0140 a0008c0027t0144 a0009c0016t0005 a0009c0016t0038 a0009c0016t0141 a0009c0016t0142 a0009c0022t0004 a0009c0022t0008 a0009c0022t0062 a0009c0056t0143 a0009c0062t0014 a0012c0019t0001 a0012c0019t0052 a0012c0019t0102 a0012c0019t0114 a0012c0030t0048 a0013c0017t0028 a0013c0017t0041 a0013c0017t0045 a0013c0017t0096 a0013c0087t0021 a0014c0097t0015 a0018c0037t0063 a0018c0037t0109 a0018c0088t0010 a0020c0043t0063 a0020c0043t0064 a0020c0096t0006 a0022c0024t0037 a0023c0031t0012 a0023c0031t0043 a0024c0032t0026 a0024c0032t0065 a0025c0036t0030 a0026c0058t0057 a0026c0059t0058 a0027c0046t0019 a0027c0047t0108 a0030c0080t0085 a0031c0093t0014 a0034c0061t0035 a0035c0066t0068 a0037c0050t0022 a0038c0079t0079 a0039c0095t0057 a0041c0051t0023 a0044c0084t0019 a0046c0063t0005 a0048c0094t0004	a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0275 others(175): Show a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0275 a0001c0001t0004g0277 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0006g0280 a0001c0001t0006g0281 a0001c0001t0007g0114 a0001c0001t0008g0242 a0001c0001t0008g0245 a0001c0001t0008g0246 a0001c0001t0008g0248 a0001c0001t0008g0264 a0001c0001t0008g0266 a0001c0001t0008g0292 a0001c0001t0010g0069 a0001c0001t0011g0082 a0001c0001t0011g0184 a0001c0001t0012g0173 a0001c0001t0018g0249 a0001c0001t0018g0251 a0001c0001t0018g0252 a0001c0001t0023g0060 a0001c0001t0027g0279 a0001c0001t0029g0154 a0001c0001t0042g0098 a0001c0001t0044g0104 a0001c0001t0044g0161 a0001c0001t0045g0129 a0001c0001t0047g0123 a0001c0001t0047g0124 a0001c0001t0059g0260 a0001c0001t0061g0288 a0001c0001t0062g0278 a0001c0001t0070g0195 a0001c0001t0077g0044 a0001c0001t0092g0188 a0001c0001t0093g0163 a0001c0001t0095g0102 a0001c0001t0097g0145 a0001c0001t0098g0189 a0001c0001t0099g0141 a0001c0001t0100g0096 a0001c0001t0101g0122 a0001c0001t0113g0151 a0001c0001t0126g0272 a0001c0001t0127g0299 a0001c0002t0001g0075 a0001c0002t0001g0080 a0001c0002t0001g0092 a0001c0002t0001g0097 a0001c0002t0001g0108 a0001c0002t0001g0121 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0133 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0147 a0001c0002t0005g0253 a0001c0002t0005g0286 a0001c0002t0005g0290 a0001c0002t0005g0291 a0001c0002t0005g0296 a0001c0002t0005g0298 a0001c0002t0005g0300 a0001c0002t0016g0047 a0001c0002t0016g0052 a0001c0002t0016g0146 a0001c0002t0016g0152 a0001c0002t0024g0093 a0001c0002t0024g0094 a0001c0002t0024g0116 a0001c0002t0024g0139 a0001c0002t0032g0007 a0001c0002t0032g0200 a0001c0002t0033g0046 a0001c0002t0033g0051 a0001c0002t0038g0243 a0001c0002t0038g0250 a0001c0002t0049g0055 a0001c0002t0050g0199 a0001c0002t0051g0137 a0001c0002t0051g0138 a0001c0002t0072g0134 a0001c0002t0103g0160 a0001c0002t0104g0180 a0001c0002t0105g0140 a0001c0002t0106g0095 a0001c0002t0112g0150 a0001c0002t0145g0351 a0001c0010t0001g0023 a0001c0010t0001g0031 a0001c0010t0033g0020 a0001c0010t0107g0021 a0001c0020t0012g0018 a0001c0020t0029g0015 a0001c0020t0041g0019 a0001c0085t0132g0287 a0004c0042t0004g0347 a0004c0042t0134g0343 a0005c0006t0002g0099 a0005c0006t0002g0109 a0005c0006t0002g0179 a0005c0006t0003g0110 a0005c0006t0003g0112 a0005c0006t0004g0289 a0005c0006t0009g0043 a0005c0006t0009g0048 a0005c0006t0009g0142 a0005c0006t0014g0268 a0005c0006t0019g0111 a0005c0006t0022g0089 a0005c0006t0054g0247 a0005c0006t0088g0066 a0005c0006t0118g0295 a0005c0086t0090g0085 a0008c0009t0004g0328 a0008c0009t0011g0203 a0008c0009t0018g0324 a0008c0009t0018g0337 a0008c0009t0026g0342 a0008c0009t0061g0319 a0008c0009t0138g0346 a0008c0027t0005g0331 a0008c0027t0140g0329 a0008c0027t0144g0326 a0009c0016t0005g0221 a0009c0016t0038g0218 a0009c0016t0141g0223 a0009c0016t0142g0224 a0009c0022t0004g0230 a0009c0022t0008g0231 a0009c0022t0062g0229 a0009c0056t0143g0209 a0009c0062t0014g0213 a0012c0019t0001g0208 a0012c0019t0052g0207 a0012c0019t0102g0205 a0012c0019t0114g0204 a0012c0030t0048g0037 a0012c0030t0048g0038 a0013c0017t0028g0282 a0013c0017t0041g0153 a0013c0017t0045g0132 a0013c0017t0096g0049 a0013c0087t0021g0091 a0014c0097t0015g0206 a0018c0037t0063g0254 a0018c0037t0109g0187 a0018c0088t0010g0178 a0020c0043t0063g0340 a0020c0043t0064g0339 a0020c0096t0006g0341 a0022c0024t0037g0008 a0022c0024t0037g0263 a0023c0031t0012g0033 a0023c0031t0043g0039 a0024c0032t0026g0241 a0024c0032t0065g0012 a0025c0036t0030g0068 a0025c0036t0030g0120 a0026c0058t0057g0219 a0026c0059t0058g0220 a0027c0046t0019g0024 a0027c0047t0108g0017 a0030c0080t0085g0087 a0031c0093t0014g0325 a0034c0061t0035g0222 a0035c0066t0068g0011 a0037c0050t0022g0032 a0038c0079t0079g0181 a0039c0095t0057g0315 a0041c0051t0023g0022 a0044c0084t0019g0086 a0046c0063t0005g0237 a0048c0094t0004g0330	180	360	0.5000	50	c.317 others(67): Show c.317-4705_317-4704insTGTATTTTGTGATTTTTGACTGTGGTTT CTTATTCCTTAGAATGTTATCA	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	1/16			chr3	TogoVar
HERC6_chr4_88373852_88448097	88380219	A A	AATATATA others(43): Show AATATATATAATATATAAATATATATAAATATATATATAATATATAAATA T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	51	0.0196	50	c.199 others(67): Show c.199+1106_199+1107insTAATATATAAATATATATAAATATATAT ATAATATATAAATATATATATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HIF1AN_chr10_100530943_100564998	100559522	G G	GCCCCCCT others(43): Show GCCCCCCTCCCCACTCCCCCCCCCCCCCCCCCCCCACCCTCCCCCCCCCC C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0017 a0001c0001t0081g0017	1	318	0.0031	50	c.11 others(63): Show c.11385_*11386insCCCCCCTCCCCACTCCCCCCCCCCCCCCCCCC CCACCCTCCCCCCCCCCC	HIF1AN	ENSG00000166135.14	transcript	ENST00000299163.7	protein_coding	8/8	11386		chr10	TogoVar
HIP1_chr7_75528298_75743941	75664258	A A	ATATATGT others(43): Show ATATATGTATACATACATATATACACACATATATGTATGTATATATGTAT G	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA19000.hp1 NA18964.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0193 a0001c0001t0001g0134 a0001c0001t0001g0193	2	252	0.0079	50	c.121 others(69): Show c.121-65061_121-65012dupCATACATATATACATACATATATGTG TGTATATATGTATGTATACATATA	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	1/30			chr7	TogoVar
HIVEP1_chr6_12007312_12169999	12167581	C C	CATGTTAT others(43): Show CATGTTATATTACATGTATATATACATGTTATATTACATGTATATATACA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00673.hp1 others(27): Show HG00099.hp2 HG00642.hp2 HG00673.hp1 HG01168.hp1 HG01243.hp1 HG01346.hp1 HG01516.hp2 HG01884.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02572.hp1 HG02723.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG03486.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18946.hp2 NA18969.hp2 NA19043.hp1	a0004 a0007 a0008 others(4): Show a0004 a0007 a0008 a0014 a0021 a0022 a0028	a0004c0004 a0007c0012 a0008c0018 others(4): Show a0004c0004 a0007c0012 a0008c0018 a0014c0017 a0021c0033 a0022c0027 a0028c0038	a0004c0004t0001 a0007c0012t0001 a0008c0018t0001 others(4): Show a0004c0004t0001 a0007c0012t0001 a0008c0018t0001 a0014c0017t0001 a0021c0033t0001 a0022c0027t0001 a0028c0038t0001	a0004c0004t0001g0005 a0004c0004t0001g0006 a0004c0004t0001g0036 others(27): Show a0004c0004t0001g0005 a0004c0004t0001g0006 a0004c0004t0001g0036 a0004c0004t0001g0048 a0004c0004t0001g0081 a0004c0004t0001g0087 a0004c0004t0001g0089 a0004c0004t0001g0165 a0004c0004t0001g0205 a0004c0004t0001g0210 a0004c0004t0001g0243 a0004c0004t0001g0261 a0004c0004t0001g0262 a0004c0004t0001g0263 a0004c0004t0001g0265 a0004c0004t0001g0267 a0004c0004t0001g0321 a0004c0004t0001g0325 a0004c0004t0001g0332 a0004c0004t0001g0333 a0007c0012t0001g0077 a0007c0012t0001g0078 a0007c0012t0001g0327 a0008c0018t0001g0337 a0008c0018t0001g0338 a0014c0017t0001g0256 a0014c0017t0001g0258 a0021c0033t0001g0019 a0022c0027t0001g0203 a0028c0038t0001g0288	30	33	0.9091	50	c.31 others(61): Show c.3120_*3121insATGTTATATTACATGTATATATACATGTTATATT ACATGTATATATACAT	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding		2583		chr6	TogoVar
HK2_chr2_74829127_74898359	74882605	T T	TTATATAT others(43): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG04115.hp1 HG03041.hp1 HG04115.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0006 a0001c0001t0002 a0002c0004t0006	a0001c0001t0002g0023 a0002c0004t0006g0248 a0001c0001t0002g0023 a0002c0004t0006g0248	2	129	0.0155	50	c.183 others(67): Show c.1839+382_1839+383insTATATATATATATATATATATATATATA TATATATATATATATATATATA	HK2	ENSG00000159399.10	transcript	ENST00000290573.7	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
HLA-DRA_chr6_32434887_32450046	32449218	A A	AGAAAGAG others(43): Show AGAAAGAGAAAGAAAAAGAAGGAAGGAAGAAGGGAAGGAGGGAGGGAAGG G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG01167.hp1 others(31): Show HG00639.hp2 HG00735.hp2 HG01167.hp1 HG01168.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02559.hp1 HG03239.hp1 HG03654.hp1 HG03688.hp2 HG04199.hp1 NA18941.hp1 NA18957.hp2 NA18969.hp2 NA18970.hp1 NA18975.hp2 NA18978.hp2 NA18983.hp2 NA18993.hp2 NA18997.hp2 NA19010.hp2 NA19064.hp1 NA19079.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0051 a0001c0001t0001g0001 a0001c0001t0001g0051	34	442	0.0769	50	c.45 others(61): Show c.4578_*4579insGAAAGAGAAAGAAAAAGAAGGAAGGAAGAAGGGA AGGAGGGAGGGAAGGG	HLA-DRA	ENSG00000204287.14	transcript	ENST00000395388.7	protein_coding		4173		chr6	TogoVar
HMCN1_chr1_185729391_186195949	186141233	T T	TACAGATG others(43): Show TACAGATGAAGCTTTGCTTGCTTGCCAAGCGATCCGTGGCCCATGGGATT G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0038 a0038	a0038c0013 a0038c0013	a0038c0013t0001 a0038c0013t0001	a0038c0013t0001g0056 a0038c0013t0001g0056	1	90	0.0111	50	c.139 others(71): Show c.13925-2923_13925-2922insTGCTTGCCAAGCGATCCGTGGCCC ATGGGATTGACAGATGAAGCTTTGCT	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	89/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMGCLL1_chr6_55429373_55584192	55477307	T T	TCTAAATA others(43): Show TCTAAATATAATATATATTATATTAATATAATATATATTATATAATATAT A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	314	0.0032	50	c.795 others(69): Show c.795+18111_795+18112insTATATATTATATAATATATATTATAT TAATATAATATATATTATATTTAG	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8			chr6	TogoVar
HMGN1_chr21_39337315_39354088	39337369	G G	GATATATA others(43): Show GATATATATATATATATATATATATATATATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG03688.hp1 HG06807.hp1 HG01255.hp2 HG03688.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0001c0001t0008 a0002c0002t0004 a0001c0001t0007 a0001c0001t0008 a0002c0002t0004	a0001c0001t0007g0003 a0001c0001t0008g0019 a0002c0002t0004g0045 a0001c0001t0007g0003 a0001c0001t0008g0019 a0002c0002t0004g0045	3	112	0.0268	50	c.57 others(61): Show c.5742_*5743insATATATATATATATATATATATATATATATATAT ATATATATATATATAT	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4945		chr21	TogoVar
HMGN1_chr21_39337315_39354088	39337385	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATATATATATATA A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0050 a0001c0001t0004g0050	1	409	0.0024	50	c.57 others(61): Show c.5726_*5727insTTATATATATATATATATATATATATATATATAT ATATATATATATATAT	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4929		chr21	TogoVar
HMGXB3_chr5_149995739_150058128	150057159	T T	TCAAACCT others(43): Show TCAAACCTCCCTCAACTCTCCTCCACTCTTCTACCTCCAACTCTCCTCTC A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0018 a0002c0002t0002g0018	1	378	0.0026	50	c.49 others(61): Show c.4967_*4968insCAAACCTCCCTCAACTCTCCTCCACTCTTCTACC TCCAACTCTCCTCTCA	HMGXB3	ENSG00000113716.13	transcript	ENST00000502717.6	protein_coding		4032		chr5	TogoVar
HOMEZ_chr14_23267422_23291132	23280783	A A	ATTTTATT others(43): Show ATTTTATTTTATTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0089 a0001c0003t0002g0089	1	384	0.0026	50	c.41- others(65): Show c.41-3597_41-3596insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAATAAAATAAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23280788	A A	ATTTTATT others(43): Show ATTTTATTTTATTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0088 a0001c0003t0002g0088	1	392	0.0026	50	c.41- others(65): Show c.41-3602_41-3601insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAATAAAATAAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOXA3_chr7_27102010_27157583	27140001	C C	CAGAGAGA others(43): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18966.hp2 HG02056.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0255 a0001c0001t0002g0227 a0001c0001t0002g0255	2	15	0.1333	50	c.-39 others(65): Show c.-390+81_-390+82insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCT	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	2/5			chr7	TogoVar
HOXA5_chr7_27136052_27148681	27140001	C C	CAGAGAGA others(43): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 NA18966.hp1 HG02056.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	2	16	0.1250	50	c.18 others(61): Show c.1833_*1834insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCT	HOXA5	ENSG00000106004.5	transcript	ENST00000222726.4	protein_coding		1050		chr7	TogoVar
HRCT1_chr9_35901202_35912136	35911161	G G	GCCAGTTG others(43): Show GCCAGTTGCCTGAAATCAGCCCTGAAATTCTGAAACCAAAGAGCTGCTTC C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0000 a0005c0012t0001g0000	1	428	0.0023	50	c.45 others(61): Show c.4526_*4527insCCAGTTGCCTGAAATCAGCCCTGAAATTCTGAAA CCAAAGAGCTGCTTCC	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding		4026		chr9	TogoVar
HSD17B14_chr19_48808018_48841491	48826542	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATATATATATACA C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0378 a0001c0001t0001g0378	1	313	0.0032	50	c.369 others(67): Show c.369+5125_369+5126insGTGTATATATATATATATATATATATAT ATATATATATATATATATATAT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATAT A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01192.hp2 HG01099.hp1 HG01192.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0002 a0001c0001t0002 a0004c0004t0002	a0001c0001t0002g0303 a0004c0004t0002g0372 a0001c0001t0002g0303 a0004c0004t0002g0372	2	181	0.0110	50	c.202 others(69): Show c.202-17463_202-17462insTATATATATAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATAT A	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18747.hp2 HG04115.hp1 NA18747.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0004 a0001c0001t0002 a0003c0003t0004	a0001c0001t0002g0315 a0003c0003t0004g0271 a0001c0001t0002g0315 a0003c0003t0004g0271	2	181	0.0110	50	c.202 others(69): Show c.202-17463_202-17462insTATATAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSF1_chr8_144286604_144319720	144313683	C C	CTCCCCGC others(43): Show CTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGC G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	196	0.0051	50	c.124 others(65): Show c.1248+67_1248+68insTCCCCGCGCCGCCTCCCCGCCTCCCCGCGC CGCCTCCCCGCCTCCCCGCG	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12			chr8	TogoVar
HSFX4_chrX_149924573_149936287	149933167	A A	AGGGGAGG others(43): Show AGGGGAGGGGTTGGGGCGGGGGGTGGGGGGGTAGGGTTGGGGGGGGGGGG G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	299	0.0033	50	c.20 others(61): Show c.2062_*2063insGGGGAGGGGTTGGGGCGGGGGGTGGGGGGGTAGG GTTGGGGGGGGGGGGG	HSFX4	ENSG00000283463.2	transcript	ENST00000457775.3	protein_coding		1881		chrX	TogoVar
HSPA2_chr14_64535741_64548237	64537767	G G	GCCCAGGC others(43): Show GCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCC T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	374	0.0027	50	c.-30 others(61): Show c.-3083_-3082insCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTC ACTGCAACCTCTGCCT	HSPA2	ENSG00000126803.10	transcript	ENST00000247207.7	protein_coding		2973		chr14	TogoVar
HSPA4_chr5_133047013_133111449	133109021	T T	TGGGGGGG others(43): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01516.hp1 others(8): Show HG01069.hp2 HG01071.hp2 HG01516.hp1 HG02055.hp2 HG02922.hp1 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 NA19240.hp2 NA20129.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0004 a0001c0015 others(1): Show a0001c0001 a0001c0004 a0001c0015 a0007c0008	a0001c0001t0009 a0001c0001t0012 a0001c0001t0036 others(4): Show a0001c0001t0009 a0001c0001t0012 a0001c0001t0036 a0001c0004t0011 a0001c0004t0012 a0001c0015t0012 a0007c0008t0029	a0001c0001t0009g0350 a0001c0001t0009g0351 a0001c0001t0009g0352 others(8): Show a0001c0001t0009g0350 a0001c0001t0009g0351 a0001c0001t0009g0352 a0001c0001t0012g0017 a0001c0001t0036g0015 a0001c0004t0011g0011 a0001c0004t0011g0013 a0001c0004t0011g0014 a0001c0004t0012g0012 a0001c0015t0012g0016 a0007c0008t0029g0018	11	231	0.0476	50	c.45 others(61): Show c.4585_*4586insGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTG	HSPA4	ENSG00000170606.16	transcript	ENST00000304858.7	protein_coding		2573		chr5	TogoVar
HTR1D_chr1_23186895_23222502	23189205	G G	GCTCTTGT others(43): Show GCTCTTGTTGTCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTTGCTGCA A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	354	0.0028	50	c.38 others(61): Show c.3880_*3881insTTGCAGCAAGCCGAGATTGCGCCATTGCACTCCA GCCTGGACAACAAGAG	HTR1D	ENSG00000179546.5	transcript	ENST00000374619.2	protein_coding		2689		chr1	TogoVar
HTR3B_chr11_113899796_113954079	113926468	T T	TTTTCCTT others(43): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC C	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0049 a0001c0001t0005g0049	1	89	0.0112	50	c.214 others(67): Show c.214-4897_214-4848dupCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTT	HTR3B	ENSG00000149305.8	transcript	ENST00000260191.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
HTT_chr4_3069681_3248957	3169024	T T	TTCTTTCT others(43): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0036 a0036	a0036c0104 a0036c0104	a0036c0104t0003 a0036c0104t0003	a0036c0104t0003g0021 a0036c0104t0003g0021	1	291	0.0034	50	c.386 others(69): Show c.3865-3295_3865-3294insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	29/66		INFO_REALIGN_3_PRIME	chr4	TogoVar
HUS1B_chr6_650939_662100	658629	A A	AATATATA others(43): Show AATATATATATATATTTTATATATATATATATATATATATATATATTTTA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	414	0.0024	50	c.-16 others(61): Show c.-1686_-1685insATAAAATATATATATATATATATATATATATATA AAATATATATATATAT	HUS1B	ENSG00000188996.5	transcript	ENST00000380907.3	protein_coding		1530		chr6	TogoVar
IARS1_chr9_92205207_92298697	92292614	T T	TTGCACAA others(43): Show TTGCACAACAACCTTGTTGTGCAGAGGGATGCCATCCCCTTTGCTTCCCT C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0046 a0004c0008t0001g0046	1	336	0.0030	50	c.-8+ others(63): Show c.-8+947_-8+996dupGAGGGAAGCAAAGGGGATGGCATCCCTCTGCA CAACAAGGTTGTTGTGCA	IARS1	ENSG00000196305.19	transcript	ENST00000443024.7	protein_coding	1/33			chr9	TogoVar
IBTK_chr6_82164987_82252744	82173674	A A	AATAAATA others(43): Show AATAAATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0076 a0002c0002t0002g0076	1	5	0.2000	50	c.372 others(67): Show c.3726-237_3726-236insATATATATATATATATATATATATATAT ATATATATATATATATATTTAT	IBTK	ENSG00000005700.15	transcript	ENST00000306270.12	protein_coding	26/28			chr6	TogoVar
ICA1L_chr2_202768176_202876766	202847695	T T	TTATATAT others(43): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0285 a0001c0001t0006g0285	1	185	0.0054	50	c.-7- others(67): Show c.-7-18680_-7-18679insTATATATATATATATATATATATATATA TATATATATATATATATATATA	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
IFNA17_chr9_21222243_21233222	21226275	T T	TTTGCAAT others(43): Show TTTGCAATGGAGGGAAGTCATAAGCTGGAACCCCCAAAACTGTGGATTAT C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	456	0.0022	50	c.13 others(61): Show c.1328_*1329insGATAATCCACAGTTTTGGGGGTTCCAGCTTATGA CTTCCCTCCATTGCAA	IFNA17	ENSG00000234829.4	transcript	ENST00000413767.2	protein_coding		967		chr9	TogoVar
IFNA5_chr9_21299326_21310313	21309102	C C	CCAGCAAG others(43): Show CCAGCAAGGCCATGGTTCCATACCTGCTAAGCCTGTCCCTGGGTCAGTCA G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	452	0.0022	50	c.-38 others(61): Show c.-3847_-3846insCTGACTGACCCAGGGACAGGCTTAGCAGGTATGG AACCATGGCCTTGCTG	IFNA5	ENSG00000147873.6	transcript	ENST00000610521.2	protein_coding		3790		chr9	TogoVar
IFNAR1_chr21_33319970_33364864	33322171	G G	GGAATATA others(43): Show GGAATATATACATGGAATATATATATGGAATATATATATCTGGAATATAT A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0225 a0002c0002t0002g0225	1	259	0.0039	50	c.-28 others(61): Show c.-2885_-2884insGAATATATACATGGAATATATATATGGAATATAT ATATCTGGAATATATA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2798		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322237	T T	TATATATG others(43): Show TATATATGGAATATATATGGAATATATATATATGGAATATATATATATGG A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00438.hp1 others(15): Show HG00280.hp2 HG00323.hp1 HG00438.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01168.hp2 HG01169.hp1 HG01261.hp2 HG01975.hp1 HG02083.hp2 HG02602.hp2 HG03831.hp2 HG04184.hp2 NA18945.hp1 NA18948.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(11): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0002g0024 a0001c0001t0002g0151 a0001c0001t0002g0156 a0001c0001t0011g0011 a0001c0001t0011g0025	18	292	0.0616	50	c.-28 others(61): Show c.-2819_-2818insATATATGGAATATATATGGAATATATATATATGG AATATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2732		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323428	G G	GATGGAAT others(43): Show GATGGAATATAGAGATGGAATATAGAGATGGAATATAGAGATGGAATATA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	197	0.0051	50	c.-16 others(61): Show c.-1628_-1627insATGGAATATAGAGATGGAATATAGAGATGGAATA TAGAGATGGAATATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1541		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33337686	C C	CTGTATAC others(43): Show CTGTATACATACATATACACACATTGTGTATACATACATATACACACATT G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01175.hp2 others(27): Show HG00099.hp1 HG00639.hp1 HG01175.hp2 HG01884.hp2 HG01891.hp1 HG02055.hp2 HG02109.hp1 HG02280.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02717.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03130.hp1 HG03225.hp1 HG03239.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp2 NA18906.hp1 NA18973.hp1 NA19030.hp1 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0003c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0021 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0021 a0002c0002t0002 a0002c0002t0016 a0002c0004t0002 a0003c0003t0004 a0003c0003t0009 a0003c0003t0032 a0003c0007t0017	a0001c0001t0001g0019 a0001c0001t0001g0107 a0001c0001t0001g0111 others(24): Show a0001c0001t0001g0019 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0034 a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0021g0142 a0002c0002t0002g0218 a0002c0002t0002g0220 a0002c0002t0016g0118 a0002c0004t0002g0192 a0002c0004t0002g0219 a0002c0004t0002g0221 a0003c0003t0004g0010 a0003c0003t0004g0122 a0003c0003t0004g0123 a0003c0003t0004g0124 a0003c0003t0004g0125 a0003c0003t0004g0143 a0003c0003t0009g0116 a0003c0003t0009g0117 a0003c0003t0009g0119 a0003c0003t0032g0115 a0003c0007t0017g0144	30	217	0.1382	50	c.200 others(67): Show c.200+2061_200+2110dupATTGTGTATACATACATATACACACATT GTGTATACATACATATACACAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
IFT140_chr16_1505427_1617072	1530694	A A	ACCCGTGG others(43): Show ACCCGTGGGGAGCGGGAGAGAGCCCGCCCGTGGGGAGCGGGAGAGAGCCC G	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18906.hp1 NA19240.hp2 HG02922.hp1 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0170 a0001c0001t0004g0172 a0001c0001t0004g0175 a0001c0001t0004g0170 a0001c0001t0004g0172 a0001c0001t0004g0175	3	329	0.0091	50	c.240 others(69): Show c.2400-3948_2400-3899dupCGGGCTCTCTCCCGCTCCCCACGGGC GGGCTCTCTCCCGCTCCCCACGGG	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	19/30			chr16	TogoVar
IFTAP_chr11_36589502_36664272	36661259	C C	CATACATA others(43): Show CATACATATATATATATATATATATATATATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG01346.hp2 others(5): Show HG00140.hp2 HG00408.hp2 HG01346.hp2 HG02074.hp1 HG02129.hp1 HG02148.hp1 NA18969.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0001g0040 a0001c0001t0001g0044 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0004g0235	8	46	0.1739	50	c.20 others(61): Show c.2073_*2074insATACATATATATATATATATATATATATATATAT ATATATATATATATAT	IFTAP	ENSG00000166352.18	transcript	ENST00000334307.10	protein_coding		1988		chr11	TogoVar
IFTAP_chr11_36589502_36664272	36661259	C C	CATATATA others(43): Show CATATATATATATATATATATATATATATATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG02148.hp2 HG02809.hp2 others(2): Show HG01074.hp2 HG02148.hp2 HG02809.hp2 HG03225.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0058 a0001c0001t0001g0156 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0058 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0181	5	43	0.1163	50	c.20 others(61): Show c.2073_*2074insATATATATATATATATATATATATATATATATAT ATATATATATATATAT	IFTAP	ENSG00000166352.18	transcript	ENST00000334307.10	protein_coding		1988		chr11	TogoVar
IGF1_chr12_102390874_102485563	102428236	G G	GTATATAT others(43): Show GTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	157	0.0064	50	c.221 others(67): Show c.221-8547_221-8546insTATATATATATATATATATATATATATA TATATATATATATATATATATA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF2BP2_chr3_185638130_185830042	185800718	A A	AAAAAAGA others(43): Show AAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19030.hp2 HG06807.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0072 a0001c0001t0005g0068 a0001c0001t0003g0072 a0001c0001t0005g0068	2	111	0.0180	50	c.239 others(69): Show c.239+22434_239+22435insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTTT	IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	2/15			chr3	TogoVar
IGSF21_chr1_18102798_18383483	18208376	A A	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	49	0.0204	50	c.71- others(67): Show c.71-19502_71-19501insATATATATATATATATATATATATATAT ATATATATATATATATATATAT	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL10_chr1_206762602_206777494	206762852	C C	CTCCTTTC others(43): Show CTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 NA18969.hp2 HG01884.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0002g0007 a0001c0001t0001g0008 a0001c0001t0002g0007	2	39	0.0513	50	c.57 others(61): Show c.5783_*5784insAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGA	IL10	ENSG00000136634.7	transcript	ENST00000423557.1	protein_coding		4749		chr1	TogoVar
IL13RA1_chrX_118722606_118799533	118784093	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATACGTATATATGTATATATAC G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	274	0.0036	50	c.119 others(69): Show c.1191+7598_1191+7599insTATATATATATATACGTATATATGTA TATATACGTATATATATATATATA	IL13RA1	ENSG00000131724.11	transcript	ENST00000371666.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL17RA_chr22_17080000_17120693	17094667	C C	CTATATAT others(43): Show CTATATATATATATATATATGTGTATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0021 a0002c0009t0021	a0002c0009t0021g0133 a0002c0009t0021g0133	1	333	0.0030	50	c.139 others(67): Show c.139-2394_139-2393insATATATATATATATATATGTGTATATAT ATATATATATATATATATATAT	IL17RA	ENSG00000177663.15	transcript	ENST00000319363.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar

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