Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
PHRF1_chr11_571470_617222	575938	C C	CGAGGGTG others(13): Show CGAGGGTGGGGGCGGGGCTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0051 a0001c0003t0013g0051	1	279	0.0036	20	c.-67 others(29): Show c.-676_-675insGAGGGTGGGGGCGGGGCTGT	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding		531		chr11	TogoVar
PHRF1_chr11_571470_617222	576004	A A	AGGGCGGG others(13): Show AGGGCGGGGCTGCAGACGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01168.hp1 HG01169.hp1 others(8): Show HG00639.hp2 HG01168.hp1 HG01169.hp1 HG01433.hp2 HG01884.hp2 HG02622.hp2 HG02630.hp1 HG02818.hp2 HG03209.hp1 HG03225.hp2 NA19240.hp1	a0003 a0009 a0016 a0003 a0009 a0016	a0003c0004 a0009c0012 a0016c0020 a0003c0004 a0009c0012 a0016c0020	a0003c0004t0003 a0009c0012t0003 a0016c0020t0009 a0003c0004t0003 a0009c0012t0003 a0016c0020t0009	a0003c0004t0003g0083 a0003c0004t0003g0084 a0003c0004t0003g0174 others(8): Show a0003c0004t0003g0083 a0003c0004t0003g0084 a0003c0004t0003g0174 a0003c0004t0003g0175 a0003c0004t0003g0177 a0003c0004t0003g0216 a0003c0004t0003g0250 a0009c0012t0003g0067 a0009c0012t0003g0082 a0009c0012t0003g0176 a0016c0020t0009g0249	11	279	0.0394	20	c.-61 others(29): Show c.-610_-609insGGGCGGGGCTGCAGACGTGG	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding		465		chr11	TogoVar
PHTF2_chr7_77793773_77962225	77925495	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	314	0.0032	20	c.101 others(39): Show c.1017+2729_1017+2748dupTTTTTTTTTTTTTTTTTTTT	PHTF2	ENSG00000006576.17	transcript	ENST00000422959.8	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHTF2_chr7_77793773_77962225	77947826	C C	CTTTCTTT others(13): Show CTTTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0309 a0001c0001t0003g0309	1	314	0.0032	20	c.185 others(39): Show c.1858-1849_1858-1848insCTTTTTTTTTTTTTTTTTTT	PHTF2	ENSG00000006576.17	transcript	ENST00000422959.8	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHTF2_chr7_77793773_77962225	77954612	G G	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA18953.hp2 HG03017.hp1 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0063 a0001c0002t0002g0032 a0001c0002t0002g0063	2	314	0.0064	20	c.223 others(37): Show c.2236-245_2236-244insGTGTATATATATATATATAT	PHTF2	ENSG00000006576.17	transcript	ENST00000422959.8	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHYHIPL_chr10_59171643_59252770	59227975	G G	GAGATATA others(13): Show GAGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18956.hp2 NA18963.hp1 others(4): Show NA18950.hp1 NA18956.hp2 NA18963.hp1 NA18982.hp1 NA18988.hp2 NA18994.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0033 a0001c0001t0002g0043 others(2): Show a0001c0001t0002g0001 a0001c0001t0002g0033 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0191	7	202	0.0347	20	c.107 others(37): Show c.107-6328_107-6327insGATATATATATATATATATA	PHYHIPL	ENSG00000165443.12	transcript	ENST00000373880.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
PHYHIPL_chr10_59171643_59252770	59227975	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02723.hp2 HG02886.hp1 others(2): Show HG01106.hp2 HG02723.hp2 HG02886.hp1 HG02922.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0072 a0001c0001t0001g0082 others(2): Show a0001c0001t0001g0022 a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0001g0098	5	202	0.0248	20	c.107 others(37): Show c.107-6317_107-6316insATATATATATATATATATAT	PHYHIPL	ENSG00000165443.12	transcript	ENST00000373880.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
PHYH_chr10_13272799_13305064	13296270	T T	TGTTCAAA others(13): Show TGTTCAAAATGTTAAACTATG	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0290 a0001c0001t0002g0290	1	438	0.0023	20	c.135 others(35): Show c.135-665_135-664insCATAGTTTAACATTTTGAAC	PHYH	ENSG00000107537.14	transcript	ENST00000263038.9	protein_coding	2/8			chr10	TogoVar
PHYH_chr10_13272799_13305064	13304524	T T	TTAAATAA others(13): Show TTAAATAAATAAATAAATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(175): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02523.hp2 HG02602.hp1 HG02647.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG03017.hp1 HG03041.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19077.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0004c0012 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0008t0003 a0004c0012t0003 a0005c0009t0003	a0001c0001t0001g0004 a0001c0001t0001g0143 a0001c0001t0001g0144 others(161): Show a0001c0001t0001g0004 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0267 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0001g0321 a0001c0001t0001g0327 a0001c0001t0001g0336 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0366 a0001c0001t0001g0369 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0160 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0268 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0300 a0001c0001t0002g0305 a0001c0001t0002g0315 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0335 a0001c0001t0002g0337 a0001c0001t0002g0340 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0347 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0365 a0001c0001t0002g0371 a0001c0001t0003g0006 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0174 a0001c0001t0003g0233 a0001c0001t0003g0291 a0001c0001t0003g0306 a0001c0001t0003g0308 a0001c0001t0003g0311 a0001c0001t0003g0339 a0001c0001t0003g0346 a0001c0001t0008g0304 a0001c0002t0001g0153 a0001c0002t0001g0330 a0001c0002t0002g0269 a0001c0002t0002g0279 a0001c0002t0003g0014 a0001c0002t0003g0019 a0001c0002t0003g0147 a0001c0002t0003g0154 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0002t0003g0286 a0001c0002t0003g0299 a0001c0002t0003g0326 a0001c0002t0003g0349 a0001c0002t0003g0364 a0001c0008t0003g0188 a0004c0012t0003g0348 a0005c0009t0003g0341	178	438	0.4064	20	c.-44 others(31): Show c.-4483_-4482insTTTATTTATTTATTTATTTA	PHYH	ENSG00000107537.14	transcript	ENST00000263038.9	protein_coding		4461		chr10	TogoVar
PHYKPL_chr5_178203471_178237802	178203504	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG02622.hp1 HG04184.hp2 others(4): Show HG01358.hp1 HG02622.hp1 HG04184.hp2 NA18945.hp1 NA18964.hp1 NA19000.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0091 a0001c0001t0002g0005 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0091 a0001c0001t0002g0005 a0001c0001t0002g0017 a0001c0001t0002g0296 a0001c0001t0002g0316 a0001c0001t0002g0347	7	440	0.0159	20	c.54 others(31): Show c.5442_*5443insTTTTTTTTTTTTTTTTTTTT	PHYKPL	ENSG00000175309.15	transcript	ENST00000308158.10	protein_coding		4966		chr5	TogoVar
PI4K2A_chr10_97635671_97681434	97678874	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	350	0.0029	20	c.51 others(31): Show c.5132_*5133insGTGTGTGTGTGTGTGTGTGT	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding		2441		chr10	TogoVar
PI4K2A_chr10_97635671_97681434	97678880	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG02280.hp2 HG03516.hp2 others(4): Show HG00558.hp2 HG02280.hp2 HG03516.hp2 HG04204.hp2 NA18944.hp2 NA18981.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0006 a0001c0003t0003 others(1): Show a0001c0001t0001 a0001c0002t0006 a0001c0003t0003 a0001c0003t0014	a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0225 others(4): Show a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0225 a0001c0001t0001g0262 a0001c0002t0006g0069 a0001c0003t0003g0089 a0001c0003t0014g0129	7	350	0.0200	20	c.51 others(31): Show c.5138_*5139insGTGTGTGTGTGTGTGTGTGT	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding		2447		chr10	TogoVar
PI4KA_chr22_20702691_20863811	20799624	T T	TGCTGAGA others(13): Show TGCTGAGAACAATGGGCTGCC	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	334	0.0030	20	c.182 others(35): Show c.1820+27_1820+46dupGGCAGCCCATTGTTCTCAGC	PI4KA	ENSG00000241973.11	transcript	ENST00000255882.11	protein_coding	15/54			chr22	TogoVar
PI4KA_chr22_20702691_20863811	20817734	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	334	0.0030	20	c.856 others(35): Show c.856+729_856+748dupTTTTTTTTTTTTTTTTTTTT	PI4KA	ENSG00000241973.11	transcript	ENST00000255882.11	protein_coding	7/54			chr22	TogoVar
PIAS1_chr15_68049315_68198847	68065915	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp2 HG02572.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0021 a0001c0001t0005 a0001c0001t0021	a0001c0001t0005g0238 a0001c0001t0021g0243 a0001c0001t0005g0238 a0001c0001t0021g0243	2	260	0.0077	20	c.24+ others(37): Show c.24+11574_24+11593dupTTTTTTTTTTTTTTTTTTTT	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
PIAS1_chr15_68049315_68198847	68088176	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG01099.hp1 others(19): Show HG00099.hp2 HG00408.hp2 HG01099.hp1 HG01255.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01884.hp2 HG01978.hp1 HG02004.hp2 HG02109.hp2 HG02148.hp1 HG02723.hp1 HG02738.hp2 HG03098.hp1 HG03195.hp1 HG03579.hp1 HG03927.hp2 HG04199.hp2 NA18612.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0036	a0001c0001t0001g0066 a0001c0001t0002g0093 a0001c0001t0002g0099 others(19): Show a0001c0001t0001g0066 a0001c0001t0002g0093 a0001c0001t0002g0099 a0001c0001t0002g0109 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0125 a0001c0001t0002g0135 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0180 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0004g0083 a0001c0001t0004g0140 a0001c0001t0012g0049 a0001c0001t0013g0126 a0001c0001t0013g0127 a0001c0001t0013g0143 a0001c0001t0014g0118 a0001c0001t0014g0154 a0001c0001t0036g0006	22	260	0.0846	20	c.469 others(37): Show c.469+1432_469+1451dupATATATATATATATATATAT	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
PIAS1_chr15_68049315_68198847	68088176	G G	GTATGTAT others(13): Show GTATGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0007 a0001c0001t0016g0007	1	260	0.0039	20	c.469 others(37): Show c.469+1429_469+1430insGTATATATATATATATATAT	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
PIAS1_chr15_68049315_68198847	68088176	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00738.hp1 others(20): Show HG00140.hp2 HG00438.hp2 HG00738.hp1 HG01928.hp1 HG02027.hp1 HG02523.hp2 HG02698.hp1 HG02723.hp2 HG03041.hp1 HG03209.hp2 HG03669.hp2 HG03942.hp2 NA18612.hp1 NA18747.hp2 NA18956.hp2 NA18974.hp2 NA18979.hp1 NA18983.hp1 NA18999.hp2 NA19043.hp2 NA19086.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0022 a0001c0001t0026 a0001c0001t0037 a0001c0001t0038 a0001c0001t0047 a0001c0002t0007 a0001c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0184 a0001c0001t0001g0211 others(20): Show a0001c0001t0001g0003 a0001c0001t0001g0184 a0001c0001t0001g0211 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0256 a0001c0001t0002g0119 a0001c0001t0004g0133 a0001c0001t0005g0176 a0001c0001t0006g0188 a0001c0001t0011g0200 a0001c0001t0022g0228 a0001c0001t0026g0098 a0001c0001t0037g0014 a0001c0001t0038g0222 a0001c0001t0047g0181 a0001c0002t0007g0016 a0001c0002t0007g0020 a0001c0002t0007g0021 a0001c0003t0001g0217	23	260	0.0885	20	c.469 others(37): Show c.469+1427_469+1428insGTATATATATATATATATAT	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
PIAS1_chr15_68049315_68198847	68151707	C C	CACACACA others(13): Show CACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp2 HG03098.hp1 others(2): Show HG02451.hp2 HG02647.hp2 HG03098.hp1 HG03130.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0041 a0001c0001t0012 a0001c0001t0041	a0001c0001t0012g0043 a0001c0001t0012g0044 a0001c0001t0012g0046 others(2): Show a0001c0001t0012g0043 a0001c0001t0012g0044 a0001c0001t0012g0046 a0001c0001t0012g0049 a0001c0001t0041g0042	5	260	0.0192	20	c.829 others(37): Show c.829-1882_829-1881insCACACACACACACACACAAA	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
PIAS1_chr15_68049315_68198847	68179564	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02698.hp2 NA18952.hp2 others(1): Show HG01993.hp1 HG02698.hp2 NA18952.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009	a0001c0001t0003g0160 a0001c0001t0004g0138 a0001c0001t0008g0039 others(1): Show a0001c0001t0003g0160 a0001c0001t0004g0138 a0001c0001t0008g0039 a0001c0001t0009g0078	4	260	0.0154	20	c.148 others(39): Show c.1482-1639_1482-1620dupTTTTTTTTTTTTTTTTTTTT	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
PIAS1_chr15_68049315_68198847	68182490	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01891.hp2 HG02922.hp1 HG01516.hp2 HG01891.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0251 a0001c0001t0005g0026 a0001c0001t0005g0029 a0001c0001t0002g0251 a0001c0001t0005g0026 a0001c0001t0005g0029	3	260	0.0115	20	c.162 others(39): Show c.1625-1133_1625-1114dupGTGTGTGTGTGTGTGTGTGT	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
PIAS2_chr18_46798218_46922507	46800685	C C	CACACATA others(13): Show CACACATATATACATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp2 NA20805.hp1 others(1): Show HG01516.hp1 HG01517.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0083 a0001c0001t0084 others(1): Show a0001c0001t0044 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085	a0001c0001t0044g0057 a0001c0001t0083g0028 a0001c0001t0084g0107 others(1): Show a0001c0001t0044g0057 a0001c0001t0083g0028 a0001c0001t0084g0107 a0001c0001t0085g0063	4	322	0.0124	20	c.11 others(33): Show c.11747_*11748insATATATATGTATATATGTGT	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding		2532		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807355	T T	TTATATAT others(13): Show TTATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0143 a0001c0001t0143	a0001c0001t0143g0133 a0001c0001t0143g0133	1	322	0.0031	20	c.50 others(31): Show c.5058_*5077dupTATATATATATATATATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5077		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(13): Show ATATATATATATATATATATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0206 a0001c0001t0206	a0001c0001t0206g0090 a0001c0001t0206g0090	1	322	0.0031	20	c.50 others(31): Show c.5049_*5050insAATATATATATATATATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0251 a0001c0001t0040g0251	1	322	0.0031	20	c.50 others(31): Show c.5049_*5050insAAAATATATATATATATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0222 a0001c0001t0222	a0001c0001t0222g0113 a0001c0001t0222g0113	1	322	0.0031	20	c.50 others(31): Show c.5049_*5050insAAAAAATATATATATATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIBF1_chr13_72777133_73021461	72844728	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	346	0.0029	20	c.122 others(39): Show c.1224-9276_1224-9257dupACACACACACACACACACAC	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72844789	A A	ACACACAC others(13): Show ACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0186 a0002c0002t0002g0186	1	346	0.0029	20	c.122 others(39): Show c.1224-9257_1224-9256insACACACACGCACACACACAC	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72892785	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	346	0.0029	20	c.132 others(37): Show c.1323-994_1323-975dupACACACACACACACACACAC	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72895725	T T	TGATCCAG others(13): Show TGATCCAGATTGTGAATTTTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01069.hp1 others(24): Show HG00099.hp2 HG00639.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01243.hp2 HG01256.hp2 HG01346.hp1 HG01433.hp2 HG02630.hp2 HG04115.hp1 HG04199.hp2 NA18522.hp1 NA18939.hp1 NA18964.hp2 NA18969.hp1 NA18972.hp1 NA18995.hp1 NA19000.hp2 NA19007.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0002 a0012c0016 a0001c0001 a0002c0002 a0012c0016	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0002c0002t0003 a0012c0016t0006	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0099 others(24): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0201 a0001c0001t0001g0315 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0003g0010 a0002c0002t0002g0207 a0002c0002t0003g0021 a0012c0016t0006g0076	27	346	0.0780	20	c.148 others(39): Show c.1488+1778_1488+1797dupATCCAGATTGTGAATTTTAG	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72895727	A A	ATCCAGAT others(13): Show ATCCAGATTGTGAATTTTAGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG01123.hp2 others(63): Show HG00408.hp1 HG00558.hp2 HG01123.hp2 HG01192.hp2 HG01258.hp2 HG01358.hp1 HG01496.hp1 HG01515.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02965.hp1 HG03579.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 NA18906.hp1 NA18943.hp2 NA18946.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18960.hp2 NA18963.hp1 NA18968.hp2 NA18970.hp1 NA18972.hp2 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19012.hp2 NA19043.hp2 NA19060.hp1 NA19064.hp1 NA19068.hp2 NA19074.hp2 NA19085.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0107 others(63): Show a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0199 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0092 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0009g0198	66	346	0.1908	20	c.148 others(39): Show c.1488+1786_1488+1805dupTGTGAATTTTAGCTCCAGAT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72902006	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02717.hp1 HG02735.hp1 others(10): Show HG02056.hp2 HG02717.hp1 HG02735.hp1 HG03098.hp2 HG03225.hp2 HG03239.hp1 HG03540.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 NA18945.hp2 NA18950.hp2 NA20805.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0009 a0001c0001 a0002c0002 a0008c0009	a0001c0001t0001 a0001c0001t0005 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0002 a0008c0009t0001	a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0204 others(10): Show a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0204 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0282 a0001c0001t0005g0316 a0001c0001t0005g0317 a0002c0002t0002g0206 a0002c0002t0002g0230 a0002c0002t0002g0300 a0002c0002t0002g0313 a0008c0009t0001g0240	13	346	0.0376	20	c.148 others(39): Show c.1489-6508_1489-6507insGTGTGTGTGTGTGTGTGTGT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72904433	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp2 HG01071.hp1 others(3): Show HG00741.hp2 HG01069.hp2 HG01071.hp1 HG03453.hp2 HG03927.hp2 NA18972.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0005t0002	a0001c0001t0001g0254 a0001c0001t0001g0294 a0001c0001t0002g0093 others(3): Show a0001c0001t0001g0254 a0001c0001t0001g0294 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0003g0010 a0002c0005t0002g0049	6	346	0.0173	20	c.148 others(39): Show c.1489-4092_1489-4073dupTTTTTTTTTTTTTTTTTTTT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72931718	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00544.hp2 others(20): Show HG00323.hp1 HG00438.hp2 HG00544.hp2 HG01975.hp1 HG02056.hp1 HG02129.hp1 HG02258.hp1 HG02647.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03654.hp2 HG04184.hp2 HG04204.hp1 NA18612.hp2 NA18944.hp2 NA18961.hp2 NA18973.hp2 NA18975.hp1 NA19064.hp2 NA19086.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0002c0005t0002	a0001c0001t0001g0253 a0001c0001t0001g0272 a0001c0001t0001g0290 others(20): Show a0001c0001t0001g0253 a0001c0001t0001g0272 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0304 a0001c0001t0002g0194 a0002c0002t0003g0022 a0002c0002t0003g0033 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0052 a0002c0002t0003g0057 a0002c0002t0003g0059 a0002c0002t0003g0066 a0002c0002t0003g0071 a0002c0002t0003g0072 a0002c0002t0003g0074 a0002c0002t0003g0080 a0002c0002t0003g0085 a0002c0002t0003g0185 a0002c0002t0003g0314 a0002c0005t0002g0034	23	346	0.0665	20	c.183 others(37): Show c.1833+457_1833+476dupATATATATATATATATATAT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72949300	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0196 a0001c0001t0003g0196	1	346	0.0029	20	c.183 others(41): Show c.1834-15960_1834-15941dupTTTTTTTTTTTTTTTTTTTT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72987858	A A	ATTTATTT others(13): Show ATTTATTTATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0004 a0001c0001t0001g0005	2	346	0.0058	20	c.205 others(41): Show c.2050-10961_2050-10960insATTTATTTTTTTTTTTTTTT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	73001582	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02004.hp2 HG02572.hp2 others(5): Show HG01123.hp2 HG02004.hp2 HG02572.hp2 HG03453.hp1 NA18946.hp2 NA18955.hp1 NA18990.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0002g0090 others(5): Show a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0002g0090 a0001c0001t0002g0104 a0001c0001t0002g0125 a0001c0001t0002g0148 a0001c0001t0002g0160 a0001c0001t0002g0173	8	346	0.0231	20	c.222 others(39): Show c.2223+2605_2223+2606insTTTTTTTTTTTTTTTTTTTT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PICALM_chr11_85952175_86074084	86035178	G G	GGTTTCAT others(13): Show GGTTTCATTAATCTTACAGTC	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	358	0.0028	20	c.131 others(37): Show c.131-3587_131-3568dupGACTGTAAGATTAATGAAAC	PICALM	ENSG00000073921.18	transcript	ENST00000393346.8	protein_coding	1/19			chr11	TogoVar
PICALM_chr11_85952175_86074084	86056134	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01346.hp1 HG01515.hp1 others(3): Show HG00323.hp1 HG01346.hp1 HG01515.hp1 HG02148.hp1 HG03831.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0014 others(3): Show a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0254	6	358	0.0168	20	c.130 others(39): Show c.130+12516_130+12517insTTTTTTTTTTTTTTTTTTTT	PICALM	ENSG00000073921.18	transcript	ENST00000393346.8	protein_coding	1/19			chr11	TogoVar
PIEZO1_chr16_88710338_88790220	88753323	G G	GGAGCACA others(13): Show GGAGCACACCTGCCACCCCCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00558.hp1 others(24): Show HG00280.hp2 HG00323.hp2 HG00558.hp1 HG00621.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01175.hp1 HG01175.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02155.hp1 HG02698.hp1 HG02738.hp1 HG03704.hp2 HG04199.hp1 HG06807.hp2 NA18945.hp1 NA18967.hp2 NA18990.hp1 NA19004.hp2 NA20129.hp2 NA20905.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0009 a0013 a0015 a0050 a0055 a0063 a0066 a0089	a0001c0001 a0001c0007 a0001c0097 others(19): Show a0001c0001 a0001c0007 a0001c0097 a0001c0108 a0002c0003 a0002c0006 a0003c0005 a0003c0086 a0004c0004 a0005c0059 a0009c0036 a0009c0127 a0009c0128 a0013c0012 a0015c0066 a0015c0130 a0015c0131 a0050c0077 a0055c0050 a0063c0109 a0066c0081 a0089c0062	a0001c0001t0001 a0001c0007t0001 a0001c0097t0001 others(19): Show a0001c0001t0001 a0001c0007t0001 a0001c0097t0001 a0001c0108t0001 a0002c0003t0001 a0002c0006t0001 a0003c0005t0001 a0003c0086t0001 a0004c0004t0001 a0005c0059t0001 a0009c0036t0001 a0009c0127t0001 a0009c0128t0001 a0013c0012t0001 a0015c0066t0001 a0015c0130t0001 a0015c0131t0001 a0050c0077t0001 a0055c0050t0001 a0063c0109t0001 a0066c0081t0001 a0089c0062t0001	a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0145 others(24): Show a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0007t0001g0076 a0001c0097t0001g0148 a0001c0108t0001g0137 a0002c0003t0001g0057 a0002c0006t0001g0195 a0003c0005t0001g0134 a0003c0005t0001g0135 a0003c0086t0001g0147 a0004c0004t0001g0074 a0005c0059t0001g0072 a0009c0036t0001g0139 a0009c0127t0001g0275 a0009c0128t0001g0130 a0013c0012t0001g0208 a0015c0066t0001g0054 a0015c0130t0001g0251 a0015c0131t0001g0142 a0050c0077t0001g0123 a0055c0050t0001g0053 a0063c0109t0001g0138 a0066c0081t0001g0144 a0089c0062t0001g0067	27	282	0.0957	20	c.65- others(35): Show c.65-3864_65-3845dupTGGGGGTGGCAGGTGTGCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	1/50			chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88786607	T T	TAAATAAA others(13): Show TAAATAAATAAATAAATAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0015 a0015	a0015c0067 a0015c0067	a0015c0067t0001 a0015c0067t0001	a0015c0067t0001g0107 a0015c0067t0001g0107	1	282	0.0036	20	c.-16 others(31): Show c.-1644_-1643insGTTTATTTATTTATTTATTT	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		1388		chr16	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(13): Show CACACACACACACACATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0012 a0012	a0012c0079 a0012c0079	a0012c0079t0002 a0012c0079t0002	a0012c0079t0002g0122 a0012c0079t0002g0122	1	158	0.0063	20	c.719 others(37): Show c.7191-400_7191-399insATATATGTGTGTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10693356	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0156 a0001c0024t0001g0156	1	158	0.0063	20	c.719 others(39): Show c.7191-1993_7191-1974dupCACACACACACACACACACA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10766992	C C	CCCCTCCC others(13): Show CCCCTCCCCTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03139.hp2 HG02258.hp1 HG03139.hp2	a0014 a0028 a0014 a0028	a0014c0036 a0028c0037 a0014c0036 a0028c0037	a0014c0036t0002 a0028c0037t0002 a0014c0036t0002 a0028c0037t0002	a0014c0036t0002g0037 a0028c0037t0002g0133 a0014c0036t0002g0037 a0028c0037t0002g0133	2	158	0.0127	20	c.294 others(39): Show c.2946+3136_2946+3155dupAAGGGGAGGGGAGGGGAGGG	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	21/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10844422	G G	GATAAAAT others(13): Show GATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18522.hp1 HG03139.hp2 NA18522.hp1	a0001 a0028 a0001 a0028	a0001c0039 a0028c0037 a0001c0039 a0028c0037	a0001c0039t0001 a0028c0037t0002 a0001c0039t0001 a0028c0037t0002	a0001c0039t0001g0004 a0028c0037t0002g0133 a0001c0039t0001g0004 a0028c0037t0002g0133	2	158	0.0127	20	c.917 others(39): Show c.917+10911_917+10930dupTTTATTTTATTTTATTTTAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	7/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886323	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA21309.hp2 HG02451.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0082 a0001c0002 a0001c0082	a0001c0002t0001 a0001c0082t0002 a0001c0002t0001 a0001c0082t0002	a0001c0002t0001g0128 a0001c0082t0002g0092 a0001c0002t0001g0128 a0001c0082t0002g0092	2	158	0.0127	20	c.330 others(39): Show c.330-14928_330-14909dupATATATATATATATATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886402	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02630.hp2 HG02647.hp2 others(2): Show HG01884.hp2 HG02630.hp2 HG02647.hp2 HG02976.hp1 HG03540.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0002 a0002c0001 a0008c0070 a0001c0002 a0002c0001 a0008c0070	a0001c0002t0001 a0001c0002t0002 a0002c0001t0001 others(2): Show a0001c0002t0001 a0001c0002t0002 a0002c0001t0001 a0002c0001t0002 a0008c0070t0002	a0001c0002t0001g0096 a0001c0002t0002g0091 a0002c0001t0001g0158 others(2): Show a0001c0002t0001g0096 a0001c0002t0002g0091 a0002c0001t0001g0158 a0002c0001t0002g0039 a0008c0070t0002g0127	5	158	0.0317	20	c.330 others(39): Show c.330-14988_330-14987insCACACACACACACACACACA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886487	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03540.hp1 HG03492.hp1 HG03540.hp1	a0003 a0026 a0003 a0026	a0003c0009 a0026c0061 a0003c0009 a0026c0061	a0003c0009t0001 a0026c0061t0008 a0003c0009t0001 a0026c0061t0008	a0003c0009t0001g0052 a0026c0061t0008g0109 a0003c0009t0001g0052 a0026c0061t0008g0109	2	158	0.0127	20	c.330 others(39): Show c.330-15073_330-15072insATATATATATATATATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10934636	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0117 a0002c0001t0001g0117	1	158	0.0063	20	c.287 others(39): Show c.287-23428_287-23409dupACACACACACACACACACAC	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	3/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	11001905	A A	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0014 a0014	a0014c0036 a0014c0036	a0014c0036t0002 a0014c0036t0002	a0014c0036t0002g0037 a0014c0036t0002g0037	1	158	0.0063	20	c.161 others(39): Show c.161-22265_161-22246dupCTTCCTTCCTTCCTTCCTTC	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	2/55			chr18	TogoVar

Search by Variant

Search

Search Results