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
PFKFB3_chr10_6197932_6240532	6206548	A A	ACCTCACG others(43): Show ACCTCACGGACGGGGCGGCTGGCCGGGTGGGGGTGCTGACCCCCCCACCT C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0346 a0001c0001t0024g0346	1	429	0.0023	50	c.76+ others(65): Show c.76+3216_76+3217insACGGACGGGGCGGCTGGCCGGGTGGGGGTG CTGACCCCCCCACCTCCCTC	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6210533	T T	TGTGTTTT others(43): Show TGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0033 a0001c0001t0029g0033	1	318	0.0031	50	c.77- others(65): Show c.77-2763_77-2714dupATGTTAGCCAGGATAGTCTTGATAGTGTTT TTAATAGACGGGGTTTCGCC	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6210533	T T	TGTGTTTT others(43): Show TGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATGGTCTTGAT A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0407 a0001c0003t0019g0407	1	318	0.0031	50	c.77- others(65): Show c.77-3050_77-3049insGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6210574	A A	AGTCTTGA others(43): Show AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT G	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	407	0.0025	50	c.77- others(65): Show c.77-3000_77-2999insGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3084854	C C	CCCAGCAC others(43): Show CCCAGCACGGTCCCCCACTCCACTCTCCAGCACGGTCCCCCACTCCACTC T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02738.hp1 others(2): Show HG01070.hp2 HG01071.hp2 HG02738.hp1 HG03834.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0019 a0001c0001 a0001c0005 a0001c0019	a0001c0001t0002 a0001c0005t0009 a0001c0019t0004 a0001c0001t0002 a0001c0005t0009 a0001c0019t0004	a0001c0001t0002g0192 a0001c0001t0002g0267 a0001c0005t0009g0193 others(2): Show a0001c0001t0002g0192 a0001c0001t0002g0267 a0001c0005t0009g0193 a0001c0019t0004g0084 a0001c0019t0004g0085	5	322	0.0155	50	c.186 others(67): Show c.186+2410_186+2459dupCTCCACTCTCCAGCACGGTCCCCCACTC CACTCTCCAGCACGGTCCCCCA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085080	G G	GGGTCCCC others(43): Show GGGTCCCCCACTCCCTCCCCAGCACAGTCCCCCCACTCCCTCCCCAGCAC A	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0317 a0001c0001t0003g0317	1	245	0.0041	50	c.186 others(67): Show c.186+2620_186+2621insGTCCCCCACTCCCTCCCCAGCACAGTCC CCCCACTCCCTCCCCAGCACAG	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085208	T T	TCACCCCC others(43): Show TCACCCCCTCCCCAGCACAGTCCCCCCACCCCCTCCCCAGCACAGTCCCC C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0301 a0001c0001t0002g0301	1	353	0.0028	50	c.186 others(67): Show c.186+2772_186+2773insCACCCCCTCCCCAGCACAGTCCCCCCAC CCCCTCCCCAGCACAGTCCCCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085811	C C	CTGTCCTC others(43): Show CTGTCCTCCACCCTGGGCCAAAGCACTGTCCTCCACCCTGGGCCAAAGCA T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp1 others(76): Show HG00099.hp1 HG00099.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00642.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01257.hp2 HG01261.hp1 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02071.hp1 HG02129.hp1 HG02132.hp2 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02735.hp1 HG02735.hp2 HG02965.hp1 HG03017.hp1 HG03491.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18962.hp2 NA18968.hp1 NA18971.hp1 NA18973.hp1 NA18981.hp1 NA18988.hp1 NA18989.hp1 NA18993.hp2 NA18995.hp1 NA18999.hp1 NA19002.hp2 NA19010.hp2 NA19012.hp2 NA19057.hp2 NA19058.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp1 NA19082.hp2 NA19087.hp1 NA19240.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0014 a0001c0019 a0001c0020 a0001c0022 a0001c0027 a0001c0029 a0001c0037 a0001c0038 a0001c0046 a0001c0057 a0001c0067 a0002c0013 a0010c0035	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(29): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0003t0001 a0001c0003t0011 a0001c0004t0006 a0001c0005t0002 a0001c0005t0006 a0001c0005t0007 a0001c0005t0008 a0001c0006t0001 a0001c0007t0005 a0001c0008t0001 a0001c0008t0005 a0001c0009t0001 a0001c0014t0004 a0001c0019t0004 a0001c0020t0001 a0001c0022t0001 a0001c0027t0005 a0001c0029t0001 a0001c0037t0002 a0001c0038t0002 a0001c0046t0003 a0001c0057t0001 a0001c0067t0005 a0002c0013t0004 a0010c0035t0005	a0001c0001t0002g0267 a0001c0001t0002g0296 a0001c0001t0002g0301 others(75): Show a0001c0001t0002g0267 a0001c0001t0002g0296 a0001c0001t0002g0301 a0001c0001t0002g0309 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0003g0001 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0275 a0001c0001t0003g0284 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0316 a0001c0001t0003g0320 a0001c0001t0003g0340 a0001c0001t0006g0128 a0001c0001t0006g0311 a0001c0001t0008g0299 a0001c0002t0002g0305 a0001c0002t0004g0103 a0001c0002t0004g0184 a0001c0002t0004g0308 a0001c0002t0004g0315 a0001c0002t0006g0269 a0001c0003t0001g0022 a0001c0003t0001g0086 a0001c0003t0001g0139 a0001c0003t0001g0160 a0001c0003t0001g0260 a0001c0003t0001g0263 a0001c0003t0001g0274 a0001c0003t0001g0276 a0001c0003t0001g0282 a0001c0003t0001g0295 a0001c0003t0001g0297 a0001c0003t0001g0300 a0001c0003t0001g0310 a0001c0003t0001g0313 a0001c0003t0001g0314 a0001c0003t0011g0264 a0001c0004t0006g0291 a0001c0005t0002g0280 a0001c0005t0002g0307 a0001c0005t0002g0323 a0001c0005t0006g0306 a0001c0005t0007g0033 a0001c0005t0008g0304 a0001c0006t0001g0066 a0001c0006t0001g0289 a0001c0006t0001g0326 a0001c0007t0005g0279 a0001c0008t0001g0268 a0001c0008t0005g0106 a0001c0008t0005g0298 a0001c0008t0005g0341 a0001c0008t0005g0361 a0001c0009t0001g0319 a0001c0014t0004g0271 a0001c0019t0004g0084 a0001c0019t0004g0085 a0001c0020t0001g0321 a0001c0022t0001g0278 a0001c0022t0001g0292 a0001c0022t0001g0303 a0001c0027t0005g0031 a0001c0027t0005g0318 a0001c0029t0001g0273 a0001c0029t0001g0302 a0001c0037t0002g0230 a0001c0038t0002g0322 a0001c0046t0003g0063 a0001c0057t0001g0331 a0001c0067t0005g0325 a0002c0013t0004g0027 a0002c0013t0004g0253 a0002c0013t0004g0254 a0010c0035t0005g0324	79	390	0.2026	50	c.186 others(67): Show c.186+3350_186+3351insTGTCCTCCACCCTGGGCCAAAGCACTGT CCTCCACCCTGGGCCAAAGCAT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21			chr10	TogoVar
PGAP3_chr17_39666122_39693057	39691902	T T	TATAGATA others(43): Show TATAGATATAGATATAGATATAGATATAGATATATATACATATACATATA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0172 a0001c0003t0005g0172	1	374	0.0027	50	c.-38 others(61): Show c.-3889_-3888insGTATATGTATATGTATATATATCTATATCTATAT CTATATCTATATCTAT	PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding		3846		chr17	TogoVar
PGBD5_chr1_230309490_230431332	230335681	A A	ACAAACAT others(43): Show ACAAACATACAGATGCACACGCACACATAGACACAAACAGATGCACACAT G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02895.hp1 HG02896.hp2 others(3): Show HG01891.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG03209.hp2 HG03225.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0015 a0001c0001t0035 a0001c0001t0049 others(1): Show a0001c0001t0015 a0001c0001t0035 a0001c0001t0049 a0005c0011t0015	a0001c0001t0015g0092 a0001c0001t0015g0094 a0001c0001t0015g0096 others(3): Show a0001c0001t0015g0092 a0001c0001t0015g0094 a0001c0001t0015g0096 a0001c0001t0035g0113 a0001c0001t0049g0004 a0005c0011t0015g0095	6	286	0.0210	50	c.107 others(69): Show c.1075+1426_1075+1427insCATGTGTGCATCTGTTTGTGTCTATG TGTGCGTGTGCATCTGTATGTTTG	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	4/6			chr1	TogoVar
PGS1_chr17_78373649_78429659	78422487	A A	ATGGGTGT others(43): Show ATGGGTGTGTTTGCCTTTTTTCCCCCTTTTGAGACAGGGTCTCACTCTGT C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00733.hp2 HG01069.hp2 others(21): Show HG00558.hp2 HG00733.hp2 HG01069.hp2 HG01074.hp2 HG01123.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01515.hp2 HG01891.hp2 HG02004.hp1 HG02129.hp2 HG02257.hp1 HG02300.hp2 HG02896.hp1 HG03491.hp2 HG03492.hp1 HG04199.hp1 HG04228.hp2 NA18952.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0002 a0001c0002t0002 a0001c0011t0002 a0001c0001t0002 a0001c0002t0002 a0001c0011t0002	a0001c0001t0002g0263 a0001c0001t0002g0270 a0001c0001t0002g0367 others(21): Show a0001c0001t0002g0263 a0001c0001t0002g0270 a0001c0001t0002g0367 a0001c0001t0002g0369 a0001c0001t0002g0370 a0001c0002t0002g0067 a0001c0002t0002g0070 a0001c0002t0002g0078 a0001c0002t0002g0082 a0001c0002t0002g0114 a0001c0002t0002g0189 a0001c0002t0002g0196 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0269 a0001c0011t0002g0315	24	396	0.0606	50	c.11 others(67): Show c.11-1573_*11-1524dupTGGGTGTGTTTGCCTTTTTTCCCCCTTT TGAGACAGGGTCTCACTCTGTC	PGS1	ENSG00000087157.19	transcript	ENST00000262764.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
PHACTR1_chr6_12711767_13292837	13003963	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATGTATATATATATATATAT G	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	61	0.0164	50	c.251 others(69): Show c.251-49401_251-49400insATATATATATATATATATATATATAT ATATGTATATATATATATATATGT	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR3_chr20_59599540_59852711	59635194	C C	CTTTCTTT others(43): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	61	0.0164	50	c.118 others(69): Show c.118+30063_118+30064insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59674614	C C	CTCCCTTC others(43): Show CTCCCTTCTCCTGTTCCCCACTTCTCCTCTTCCCACCTTCTCCTGTTCCT G	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19074.hp2 NA18971.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0203 a0001c0001t0001g0204	2	248	0.0081	50	c.119 others(69): Show c.119-68493_119-68492insTCCCTTCTCCTGTTCCCCACTTCTCC TCTTCCCACCTTCTCCTGTTCCTG	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12			chr20	TogoVar
PHEX_chrX_22027325_22256310	22224947	A A	AATTATCA others(43): Show AATTATCATACAGCGCTGTATGATTTATTATCATACAGCGCTGTATGATT T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02056.hp1 HG02135.hp1 others(17): Show HG01891.hp1 HG02056.hp1 HG02135.hp1 HG02280.hp1 HG02523.hp1 HG03471.hp1 HG03579.hp1 NA18943.hp1 NA18960.hp1 NA18964.hp2 NA18977.hp1 NA18993.hp2 NA19001.hp1 NA19010.hp2 NA19011.hp2 NA19058.hp1 NA19062.hp1 NA19063.hp1 NA19070.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0026 a0001c0001t0034 a0001c0001t0038 a0001c0001t0049 a0001c0001t0057	a0001c0001t0001g0201 a0001c0001t0002g0088 a0001c0001t0005g0196 others(17): Show a0001c0001t0001g0201 a0001c0001t0002g0088 a0001c0001t0005g0196 a0001c0001t0008g0087 a0001c0001t0009g0142 a0001c0001t0009g0197 a0001c0001t0009g0209 a0001c0001t0009g0212 a0001c0001t0010g0171 a0001c0001t0010g0172 a0001c0001t0014g0180 a0001c0001t0015g0199 a0001c0001t0017g0062 a0001c0001t0017g0085 a0001c0001t0017g0096 a0001c0001t0026g0048 a0001c0001t0034g0169 a0001c0001t0038g0224 a0001c0001t0049g0190 a0001c0001t0057g0044	20	22	0.9091	50	c.190 others(69): Show c.1900-1458_1900-1457insGCTGTATGATTTATTATCATACAGCG CTGTATGATTTATTATCATACAGC	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	18/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
PHEX_chrX_22027325_22256310	22224947	A A	AATTATCA others(43): Show AATTATCATACAGTGCTGTATGATTTATTATCATACAGCGCTGTATGATT T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp1 HG02630.hp1 others(3): Show HG01109.hp1 HG02257.hp1 HG02630.hp1 HG02630.hp2 HG03041.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0023 a0001c0001t0063 a0001c0001t0077 others(2): Show a0001c0001t0023 a0001c0001t0063 a0001c0001t0077 a0001c0001t0087 a0001c0004t0076	a0001c0001t0023g0148 a0001c0001t0023g0173 a0001c0001t0063g0046 others(3): Show a0001c0001t0023g0148 a0001c0001t0023g0173 a0001c0001t0063g0046 a0001c0001t0077g0031 a0001c0001t0087g0022 a0001c0004t0076g0010	6	8	0.7500	50	c.190 others(69): Show c.1900-1484_1900-1483insTGCTGTATGATTTATTATCATACAGC GCTGTATGATTTATTATCATACAG	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	18/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
PHF3_chr6_63630802_63731011	63727737	A A	AAAATATA others(43): Show AAAATATATATATATATATATATATATATATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0278 a0001c0001t0022g0278	1	80	0.0125	50	c.14 others(63): Show c.14029_*14030insAAATATATATATATATATATATATATATATAT ATATATATATATATATAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1727		chr6	TogoVar
PHKA1_chrX_72573814_72719306	72681993	T T	TCTGCCCG others(43): Show TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCC C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	233	0.0043	50	c.537 others(67): Show c.537+2504_537+2505insGGGGCCGACCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72682076	T T	TGGGGGGG others(43): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02717.hp1 others(1): Show HG01243.hp1 HG02109.hp1 HG02717.hp1 HG03195.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0006 a0001c0001 a0001c0007 a0003c0006	a0001c0001t0001 a0001c0007t0001 a0003c0006t0001 a0001c0001t0001 a0001c0007t0001 a0003c0006t0001	a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0007t0001g0027 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0007t0001g0027 a0003c0006t0001g0028	4	150	0.0267	50	c.537 others(67): Show c.537+2421_537+2422insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCC	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHLDB2_chr3_111854265_111981517	111866014	A A	ATTTTTTT others(43): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0212 a0001c0005t0001g0212	1	27	0.0370	50	c.-15 others(67): Show c.-15+6462_-15+6463insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTT	PHLDB2	ENSG00000144824.21	transcript	ENST00000431670.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PHLPP1_chr18_62710541_62985433	62849826	A A	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	161	0.0062	50	c.190 others(71): Show c.1900-10608_1900-10607insTATATATATATATATATATATATA TATATATATATATATATATATATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PIAS1_chr15_68049315_68198847	68050492	T T	TATACATA others(43): Show TATACATATATATATTCATATATATATACATATATATTCATATATATATA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03486.hp1 HG02258.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0004 a0001c0001t0002g0005	2	241	0.0083	50	c.-38 others(61): Show c.-3835_-3834insATACATATATATATTCATATATATATACATATAT ATTCATATATATATAC	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding		3822		chr15	TogoVar
PIAS4_chr19_4002736_4044386	4036294	A A	ACATCCAT others(43): Show ACATCCATACAGTCCACACCATCACACACACATCTATACAGTCCACACCA T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(77): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01081.hp2 HG01106.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG03209.hp1 HG03239.hp2 HG03490.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 NA18942.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18990.hp2 NA19007.hp2 NA19059.hp1 NA19060.hp2 NA19079.hp1 NA19084.hp1 NA19089.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0016	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(8): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0002t0001 a0001c0002t0010 a0001c0002t0018 a0001c0009t0001 a0001c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(62): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0164 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0254 a0001c0001t0009g0073 a0001c0001t0009g0076 a0001c0001t0010g0087 a0001c0001t0013g0048 a0001c0001t0014g0081 a0001c0001t0016g0026 a0001c0002t0001g0047 a0001c0002t0010g0115 a0001c0002t0018g0125 a0001c0009t0001g0004 a0001c0009t0001g0084 a0001c0009t0001g0085 a0001c0016t0001g0111	80	327	0.2446	50	c.114 others(69): Show c.1143-1078_1143-1077insTCCATACAGTCCACACCATCACACAC ACATCTATACAGTCCACACCATCA	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(43): Show CACACACACACACACACACACACACACACACACACATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0092 a0001c0002t0002g0092	1	4	0.2500	50	c.719 others(67): Show c.7191-400_7191-399insATATATATATATATATGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(43): Show CACACACACACACACACACACACACACATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0007 a0007	a0007c0077 a0007c0077	a0007c0077t0006 a0007c0077t0006	a0007c0077t0006g0001 a0007c0077t0006g0001	1	4	0.2500	50	c.719 others(67): Show c.7191-400_7191-399insATATATATATATATATATATATATGTGT GTGTGTGTGTGTGTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(43): Show CACACACACACACACACACACACACATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0007 a0007	a0007c0004 a0007c0004	a0007c0004t0001 a0007c0004t0001	a0007c0004t0001g0152 a0007c0004t0001g0152	1	4	0.2500	50	c.719 others(67): Show c.7191-400_7191-399insATATATATATATATATATATATATATGT GTGTGTGTGTGTGTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886368	A A	ATGTGTGT others(43): Show ATGTGTGTGTATATATATATATATATACACACACACATATATGTGTGTGT G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0007 a0007	a0007c0077 a0007c0077	a0007c0077t0006 a0007c0077t0006	a0007c0077t0006g0001 a0007c0077t0006g0001	1	71	0.0141	50	c.330 others(69): Show c.330-14954_330-14953insCACACACACATATATGTGTGTGTGTA TATATATATATATATACACACACA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886487	C C	CATATATA others(43): Show CATATATATATATATATATGTATGTATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03098.hp2 HG02258.hp1 HG03098.hp2	a0013 a0019 a0013 a0019	a0013c0036 a0019c0030 a0013c0036 a0019c0030	a0013c0036t0002 a0019c0030t0001 a0013c0036t0002 a0019c0030t0001	a0013c0036t0002g0035 a0019c0030t0001g0079 a0013c0036t0002g0035 a0019c0030t0001g0079	2	6	0.3333	50	c.330 others(69): Show c.330-15073_330-15072insATATATATATATATATATATATATAT ACATACATATATATATATATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIGN_chr18_62036164_62192056	62125125	A A	AATATACG others(43): Show AATATACGTTTGTACATACATGTATATATACACGTTTGTACATACATGTA T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp1 HG01891.hp1 HG02572.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0010 a0001c0009t0010	a0001c0009t0010g0198 a0001c0009t0010g0199 a0001c0009t0010g0198 a0001c0009t0010g0199	2	340	0.0059	50	c.117 others(71): Show c.1173-10487_1173-10486insATACATGTATGTACAAACGTGTAT ATATACATGTATGTACAAACGTATAT	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	14/30			chr18	TogoVar
PIK3C2B_chr1_204417633_204499805	204471058	C C	CATGGCTT others(43): Show CATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG02818.hp1 others(9): Show HG02451.hp1 HG02559.hp1 HG02818.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03471.hp2 NA18612.hp1 NA20300.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0011	a0001c0001 a0001c0003 a0001c0008 others(5): Show a0001c0001 a0001c0003 a0001c0008 a0001c0038 a0004c0037 a0005c0044 a0005c0045 a0011c0046	a0001c0001t0001 a0001c0003t0001 a0001c0003t0012 others(7): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0012 a0001c0008t0011 a0001c0008t0014 a0001c0038t0003 a0004c0037t0002 a0005c0044t0001 a0005c0045t0003 a0011c0046t0001	a0001c0001t0001g0225 a0001c0003t0001g0044 a0001c0003t0012g0235 others(9): Show a0001c0001t0001g0225 a0001c0003t0001g0044 a0001c0003t0012g0235 a0001c0008t0011g0245 a0001c0008t0011g0257 a0001c0008t0011g0258 a0001c0008t0014g0265 a0001c0038t0003g0045 a0004c0037t0002g0070 a0005c0044t0001g0263 a0005c0045t0003g0261 a0011c0046t0001g0266	12	83	0.1446	50	c.-84 others(67): Show c.-84-1173_-84-1172insCATGTGAGAATACCAGTGAAGCCATCAT GTGAGAATACCAGTGAAGCCAT	PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32			chr1	TogoVar
PIM1_chr6_37165152_37180428	37179358	A A	AATATATA others(43): Show AATATATATTATATATTATATATATAATATATAATATATATTATATATTA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03927.hp1 HG03831.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	2	386	0.0052	50	c.52 others(61): Show c.5267_*5268insATATATATTATATATTATATATATAATATATAAT ATATATTATATATTAT	PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding		3931		chr6	TogoVar
PIP4K2A_chr10_22529854_22719578	22664048	C C	CATATATA others(43): Show CATATATATATATACACATATATATATATATATACATATATATATACGTA T	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0009 a0002c0006t0009	a0002c0006t0009g0011 a0002c0006t0009g0011	1	176	0.0057	50	c.144 others(69): Show c.144+50134_144+50135insATACGTATATATATATGTATATATAT ATATATATGTGTATATATATATAT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22664048	C C	CATATATA others(43): Show CATATATATATATATACATATATATATATATATACACATATATATACGTA T	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0007 a0002c0006t0003g0007	1	176	0.0057	50	c.144 others(69): Show c.144+50134_144+50135insATACGTATATATATGTGTATATATAT ATATATATGTATATATATATATAT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22664048	C C	CATATATA others(43): Show CATATATATATATATACATATATATATATATATACATATATATATACGTA T	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0004 a0002c0006t0003g0004	1	176	0.0057	50	c.144 others(69): Show c.144+50134_144+50135insATACGTATATATATATGTATATATAT ATATATATGTATATATATATATAT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22664048	C C	CATATATA others(43): Show CATATATATATATATACATATATATATATATATATACATATATATATACG T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18944.hp2 NA18747.hp1 NA18944.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0006 a0001c0005 a0002c0006	a0001c0005t0012 a0002c0006t0003 a0001c0005t0012 a0002c0006t0003	a0001c0005t0012g0009 a0002c0006t0003g0006 a0001c0005t0012g0009 a0002c0006t0003g0006	2	177	0.0113	50	c.144 others(69): Show c.144+50134_144+50135insACGTATATATATATGTATATATATAT ATATATATGTATATATATATATAT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22664048	C C	CATATATA others(43): Show CATATATATATATATACATATATATATATATATATACGTATATATATACG T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0005 a0001c0005t0001g0005	1	176	0.0057	50	c.144 others(69): Show c.144+50134_144+50135insACGTATATATATACGTATATATATAT ATATATATGTATATATATATATAT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP5K1C_chr19_3625183_3705468	3649038	G G	GGGGAGTT others(43): Show GGGGAGTTAACTGTCACCCGGCACCGTGCCCACACGTCCCCTGCCCAGCG C	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	328	0.0030	50	c.112 others(67): Show c.1128-331_1128-330insGCGCTGGGCAGGGGACGTGTGGGCACGG TGCCGGGTGACAGTTAACTCCC	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649048	T T	TTGTCACC others(43): Show TTGTCACCCGGCACCATGCCCACAGGTCCCCTGCCCAGCGCGGGAGTTAA C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0059 a0001c0001t0010g0059	1	167	0.0060	50	c.112 others(67): Show c.1128-341_1128-340insGTTAACTCCCGCGCTGGGCAGGGGACCT GTGGGCATGGTGCCGGGTGACA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649163	A A	ATGCCCAC others(43): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01943.hp1 HG02080.hp2 HG00642.hp1 HG01943.hp1 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0111 a0001c0001t0004g0133 a0001c0001t0004g0035 a0001c0001t0004g0111 a0001c0001t0004g0133	3	252	0.0119	50	c.112 others(67): Show c.1128-456_1128-455insCGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649263	A A	ATGCCCAC others(43): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(14): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG02015.hp1 HG02074.hp2 HG02886.hp1 HG03942.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18989.hp2 NA19005.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0027	a0001c0001t0001g0036 a0001c0001t0004g0046 a0001c0001t0004g0065 others(14): Show a0001c0001t0001g0036 a0001c0001t0004g0046 a0001c0001t0004g0065 a0001c0001t0004g0072 a0001c0001t0004g0110 a0001c0001t0004g0116 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0305 a0001c0001t0004g0306 a0001c0002t0003g0175 a0001c0002t0003g0276 a0001c0002t0003g0301 a0001c0002t0004g0303 a0001c0002t0004g0304 a0001c0002t0008g0288 a0001c0002t0027g0156	17	102	0.1667	50	c.112 others(67): Show c.1128-605_1128-556dupCGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649416	C C	CCCACACG others(43): Show CCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACCGTG A	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0321 a0001c0001t0004g0321	1	330	0.0030	50	c.112 others(67): Show c.1128-709_1128-708insTCACGGTGCCGGGTGACAGTTAACTCCC GCGCTGGGCAGGGGACGTGTGG	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649431	C C	CCCAGCGC others(43): Show CCCAGCGCGGGAGTTAACTGTCACCCGGCACCGTGCCCACACGTCCCCTG T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00597.hp2 others(25): Show HG00423.hp1 HG00558.hp2 HG00597.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG02129.hp1 HG02135.hp2 HG02559.hp2 HG03041.hp2 HG03486.hp1 HG03688.hp1 NA18906.hp1 NA18906.hp2 NA18947.hp1 NA18950.hp1 NA18960.hp1 NA18961.hp2 NA18970.hp1 NA18982.hp2 NA18985.hp2 NA19000.hp1 NA19007.hp2 NA19012.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0051 a0001c0002t0006	a0001c0001t0001g0001 a0001c0001t0003g0117 a0001c0001t0004g0010 others(24): Show a0001c0001t0001g0001 a0001c0001t0003g0117 a0001c0001t0004g0010 a0001c0001t0004g0018 a0001c0001t0004g0021 a0001c0001t0004g0025 a0001c0001t0004g0039 a0001c0001t0004g0064 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0075 a0001c0001t0004g0108 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0120 a0001c0001t0004g0127 a0001c0001t0004g0173 a0001c0001t0004g0213 a0001c0001t0004g0283 a0001c0001t0006g0073 a0001c0001t0006g0091 a0001c0001t0006g0121 a0001c0001t0006g0123 a0001c0001t0006g0212 a0001c0001t0051g0040 a0001c0002t0006g0179	28	325	0.0862	50	c.112 others(67): Show c.1128-724_1128-723insACAGGGGACGTGTGGGCACGGTGCCGGG TGACAGTTAACTCCCGCGCTGG	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PITPNC1_chr17_67372281_67702256	67522659	C C	CTTTTTTT others(43): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	49	0.0204	50	c.49- others(67): Show c.49-10129_49-10128insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6560636	C C	CTCCTCCT others(43): Show CTCCTCCTCCTCCTCCCCTCCTCCTCTTCCTCCTCCTCTCATTATCCTCC T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0055 a0002c0005t0055	a0002c0005t0055g0081 a0002c0005t0055g0081	1	215	0.0047	50	c.-42 others(61): Show c.-4231_-4230insAGGAGGATAATGAGAGGAGGAGGAAGAGGAGGAG GGGAGGAGGAGGAGGA	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4082		chr17	TogoVar
PIWIL3_chr22_24714034_24779720	24757637	C C	CACACATA others(43): Show CACACATATATAAAATATGTATATATTACACACACACACACACACACACA T	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	220	0.0045	50	c.355 others(65): Show c.355+270_355+271insATGTGTGTGTGTGTGTGTGTGTGTAATATA TACATATTTTATATATGTGT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20			chr22	TogoVar
PIWIL3_chr22_24714034_24779720	24757637	C C	CACATATA others(43): Show CACATATATAAAATATGTATATATTACACACACACACACACACACACACA T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0020 a0020	a0020c0029 a0020c0029	a0020c0029t0001 a0020c0029t0001	a0020c0029t0001g0361 a0020c0029t0001g0361	1	220	0.0045	50	c.355 others(65): Show c.355+270_355+271insATGTGTGTGTGTGTGTGTGTGTGTGTAATA TATACATATTTTATATATGT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20			chr22	TogoVar
PIWIL3_chr22_24714034_24779720	24757659	T T	TACACACA others(43): Show TACACACACACACACACACACACATATATATAAAATATGTATATATTACA C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp2 HG01081.hp1 others(15): Show HG00735.hp2 HG00738.hp2 HG01081.hp1 HG01099.hp2 HG02015.hp1 HG02071.hp1 HG02080.hp1 HG02132.hp2 HG03669.hp1 NA18747.hp2 NA18939.hp2 NA18961.hp1 NA18966.hp2 NA18971.hp1 NA18980.hp2 NA18995.hp1 NA19002.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0016 a0003c0005 a0001c0001 a0002c0016 a0003c0005	a0001c0001t0001 a0002c0016t0001 a0003c0005t0001 a0001c0001t0001 a0002c0016t0001 a0003c0005t0001	a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(15): Show a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0265 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0282 a0001c0001t0001g0288 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0306 a0002c0016t0001g0236 a0003c0005t0001g0290	18	105	0.1714	50	c.355 others(65): Show c.355+248_355+249insGTGTAATATATACATATTTTATATATATGT GTGTGTGTGTGTGTGTGTGT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20			chr22	TogoVar
PKD1L1_chr7_47769614_47953466	47865568	A A	ATTATTTT others(43): Show ATTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0020 a0020	a0020c0022 a0020c0022	a0020c0022t0001 a0020c0022t0001	a0020c0022t0001g0228 a0020c0022t0001g0228	1	169	0.0059	50	c.409 others(67): Show c.4093-297_4093-296insAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAA	PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	25/56			chr7	TogoVar
PKDCC_chr2_42043021_42063517	42044174	G G	GGAAGGAA others(43): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAGAAAGAAAGAAAGAA A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0014 a0002c0002t0002g0014	1	430	0.0023	50	c.-40 others(61): Show c.-4026_-4025insGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAA GAAAGAAAGAAAGAAA	PKDCC	ENSG00000162878.13	transcript	ENST00000294964.6	protein_coding		3846		chr2	TogoVar
PKIA_chr8_78511340_78610267	78524204	A A	ATATATAA others(43): Show ATATATAAATATATGTATAAACATTTATATTTATATATAAACATTTATAT T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01106.hp2 HG01255.hp1 others(2): Show HG00140.hp1 HG01106.hp2 HG01255.hp1 HG04199.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 others(1): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0001t0023	a0001c0001t0008g0020 a0001c0001t0008g0021 a0001c0001t0009g0018 others(2): Show a0001c0001t0008g0020 a0001c0001t0008g0021 a0001c0001t0009g0018 a0001c0001t0017g0019 a0001c0001t0023g0022	5	182	0.0275	50	c.-15 others(69): Show c.-157+7742_-157+7743insAATATATGTATAAACATTTATATTTA TATATAAACATTTATATTTATATA	PKIA	ENSG00000171033.13	transcript	ENST00000396418.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar

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