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
PEX5_chr12_7184686_7216459	7196582	T T	TGTCATAC others(12): Show TGTCATACATAATGTAATAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0203 a0001c0001t0004g0203	1	426	0.0023	19	c.449 others(36): Show c.449-2429_449-2428insGTCATACATAATGTAATAA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15			chr12	TogoVar
PEX5_chr12_7184686_7216459	7197393	T T	TATATGTC others(12): Show TATATGTCATATACAATGTA	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA18952.hp2 NA18968.hp1 others(1): Show HG02738.hp2 NA18952.hp2 NA18968.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0180 a0001c0001t0003g0019 a0001c0001t0003g0180	4	426	0.0094	19	c.449 others(36): Show c.449-1614_449-1613insGTCATATACAATGTAATAT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PFDN2_chr1_161095561_161123037	161097672	T T	TTCTCTCT others(12): Show TTCTCTCTCTCTCTCTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	362	0.0028	19	c.30 others(30): Show c.3010_*3011insGAGAAGAGAGAGAGAGAGA	PFDN2	ENSG00000143256.5	transcript	ENST00000368010.4	protein_coding		2888		chr1	TogoVar
PFKFB3_chr10_6197932_6240532	6208371	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	38	0.0263	19	c.76+ others(34): Show c.76+5039_76+5057dupTTTTTTTTTTTTTTTTTTT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKL_chr21_44295053_44332373	44303441	A A	AAAAAAAA others(12): Show AAAAAAAAAAGACTTGATCG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	264	0.0038	19	c.86- others(34): Show c.86-3231_86-3230insGACTTGATCGAAAAAAAAA	PFKL	ENSG00000141959.17	transcript	ENST00000349048.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr21	TogoVar
PFKP_chr10_3062548_3141802	3085360	C C	CCCCAGCA others(12): Show CCCCAGCACCGTCCCCCAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00597.hp2 others(10): Show HG00438.hp2 HG00544.hp2 HG00597.hp2 HG02040.hp2 HG02074.hp2 HG02523.hp1 NA18941.hp2 NA18952.hp1 NA18970.hp2 NA18983.hp1 NA18988.hp2 NA18993.hp1 NA19057.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0004c0051	a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 others(6): Show a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 a0001c0005t0006 a0001c0006t0001 a0001c0006t0020 a0001c0008t0005 a0001c0009t0001 a0004c0051t0004	a0001c0001t0002g0113 a0001c0002t0002g0095 a0001c0002t0002g0114 others(10): Show a0001c0001t0002g0113 a0001c0002t0002g0095 a0001c0002t0002g0114 a0001c0002t0002g0288 a0001c0003t0001g0116 a0001c0003t0001g0138 a0001c0005t0006g0055 a0001c0006t0001g0009 a0001c0006t0001g0096 a0001c0006t0020g0145 a0001c0008t0005g0115 a0001c0009t0001g0097 a0004c0051t0004g0112	13	400	0.0325	19	c.186 others(36): Show c.186+2900_186+2901insCCAGCACCGTCCCCCAAAC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085385	C C	CCCCAGCA others(12): Show CCCCAGCACAGTCCCCCAAA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	400	0.0025	19	c.186 others(36): Show c.186+2925_186+2926insCCAGCACAGTCCCCCAAAC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085696	A A	ACCCCTTC others(12): Show ACCCCTTCCCCAGCACAGTC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0343 a0001c0002t0004g0343	1	391	0.0026	19	c.186 others(36): Show c.186+3236_186+3237insCCCTTCCCCAGCACAGTCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085721	A A	ACCCCCTC others(12): Show ACCCCCTCCCTAGCACAGTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00558.hp1 others(67): Show HG00423.hp1 HG00438.hp1 HG00558.hp1 HG01070.hp2 HG01071.hp2 HG01257.hp2 HG01928.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02129.hp1 HG02132.hp2 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02735.hp1 HG02965.hp1 HG03017.hp1 HG03491.hp1 HG03654.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04228.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 NA19070.hp2 NA19074.hp1 NA19081.hp1 NA19082.hp2 NA19087.hp1 NA19240.hp2	a0001 a0008 a0010 a0001 a0008 a0010	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0014 a0001c0019 a0001c0020 a0001c0022 a0001c0027 a0001c0029 a0001c0037 a0001c0046 a0001c0057 a0001c0067 a0008c0054 a0010c0035	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(26): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0003t0001 a0001c0003t0011 a0001c0004t0006 a0001c0005t0002 a0001c0005t0006 a0001c0005t0008 a0001c0006t0001 a0001c0007t0005 a0001c0008t0001 a0001c0008t0005 a0001c0014t0004 a0001c0019t0004 a0001c0020t0001 a0001c0022t0001 a0001c0027t0005 a0001c0029t0001 a0001c0037t0002 a0001c0046t0003 a0001c0057t0001 a0001c0067t0005 a0008c0054t0003 a0010c0035t0005	a0001c0001t0002g0267 a0001c0001t0002g0296 a0001c0001t0002g0301 others(66): Show a0001c0001t0002g0267 a0001c0001t0002g0296 a0001c0001t0002g0301 a0001c0001t0002g0309 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0003g0001 a0001c0001t0003g0262 a0001c0001t0003g0275 a0001c0001t0003g0284 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0316 a0001c0001t0003g0320 a0001c0001t0003g0340 a0001c0001t0006g0128 a0001c0001t0006g0311 a0001c0001t0008g0299 a0001c0002t0002g0305 a0001c0002t0004g0308 a0001c0002t0004g0315 a0001c0002t0006g0269 a0001c0003t0001g0022 a0001c0003t0001g0086 a0001c0003t0001g0139 a0001c0003t0001g0160 a0001c0003t0001g0260 a0001c0003t0001g0263 a0001c0003t0001g0274 a0001c0003t0001g0276 a0001c0003t0001g0282 a0001c0003t0001g0295 a0001c0003t0001g0297 a0001c0003t0001g0300 a0001c0003t0001g0310 a0001c0003t0001g0313 a0001c0003t0001g0314 a0001c0003t0011g0264 a0001c0004t0006g0291 a0001c0005t0002g0280 a0001c0005t0002g0307 a0001c0005t0006g0306 a0001c0005t0008g0304 a0001c0006t0001g0066 a0001c0006t0001g0289 a0001c0006t0001g0326 a0001c0007t0005g0094 a0001c0007t0005g0279 a0001c0008t0001g0268 a0001c0008t0005g0106 a0001c0008t0005g0298 a0001c0008t0005g0341 a0001c0008t0005g0361 a0001c0014t0004g0271 a0001c0019t0004g0084 a0001c0019t0004g0085 a0001c0020t0001g0321 a0001c0022t0001g0278 a0001c0022t0001g0292 a0001c0022t0001g0303 a0001c0027t0005g0318 a0001c0029t0001g0273 a0001c0029t0001g0302 a0001c0037t0002g0230 a0001c0046t0003g0063 a0001c0057t0001g0331 a0001c0067t0005g0325 a0008c0054t0003g0266 a0010c0035t0005g0324	70	380	0.1842	19	c.186 others(36): Show c.186+3261_186+3262insCCCCTCCCTAGCACAGTCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085746	A A	ACCCCCTC others(12): Show ACCCCCTCCCTAGCACAGTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0005 a0001c0034t0005	a0001c0034t0005g0396 a0001c0034t0005g0396	1	318	0.0031	19	c.186 others(36): Show c.186+3286_186+3287insCCCCTCCCTAGCACAGTCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGAM5_chr12_132705842_132727734	132706178	T T	TGGCTCAT others(12): Show TGGCTCATGCCTGTAATCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	392	0.0026	19	c.-46 others(30): Show c.-4699_-4698insGGCTCATGCCTGTAATCCC	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding		4663		chr12	TogoVar
PGAP1_chr2_196828004_196931707	196832775	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	9	0.1111	19	c.84 others(30): Show c.8458_*8459insAAAAAAAAAAAAAAAAAAA	PGAP1	ENSG00000197121.15	transcript	ENST00000354764.9	protein_coding		228		chr2	TogoVar
PGAP1_chr2_196828004_196931707	196927409	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG03453.hp2 HG03486.hp2 others(1): Show HG01167.hp2 HG03453.hp2 HG03486.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0155 a0001c0001t0002g0163 a0001c0001t0008g0013 others(1): Show a0001c0001t0002g0155 a0001c0001t0002g0163 a0001c0001t0008g0013 a0001c0001t0008g0014	4	99	0.0404	19	c.-81 others(28): Show c.-812_-794dupTTTTTTTTTTTTTTTTTTT	PGAP1	ENSG00000197121.15	transcript	ENST00000354764.9	protein_coding		703		chr2	TogoVar
PGAP3_chr17_39666122_39693057	39691556	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0043 a0001c0001t0004g0043	1	243	0.0041	19	c.-35 others(30): Show c.-3543_-3542insATATTTTTTTTTTTTTTTT	PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding		3500		chr17	TogoVar
PGAP3_chr17_39666122_39693057	39691556	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	243	0.0041	19	c.-35 others(30): Show c.-3543_-3542insATATATATATATATTTTTT	PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding		3500		chr17	TogoVar
PGAP6_chr16_365788_386978	378204	C C	CCCGCACT others(12): Show CCCGCACTGCCATCGCCACT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0096 a0004c0006t0001g0096	1	303	0.0033	19	c.122 others(34): Show c.122-357_122-356insAGTGGCGATGGCAGTGCGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PGBD5_chr1_230309490_230431332	230344185	T T	TGAGGCAG others(12): Show TGAGGCAGGAGAATGGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG06807.hp1 HG02818.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0061 a0001c0002t0098 a0001c0001t0061 a0001c0002t0098	a0001c0001t0061g0043 a0001c0002t0098g0111 a0001c0001t0061g0043 a0001c0002t0098g0111	2	286	0.0070	19	c.894 others(36): Show c.894+6754_894+6772dupCACACCATTCTCCTGCCTC	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	3/6			chr1	TogoVar
PGBD5_chr1_230309490_230431332	230393060	T T	TAGGAAGG others(12): Show TAGGAAGGGGAAGGTGGAGG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	286	0.0035	19	c.331 others(38): Show c.331+32537_331+32538insCCTCCACCTTCCCCTTCCT	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	1/6			chr1	TogoVar
PGGHG_chr11_284126_301107	300207	C C	CACTCCCC others(12): Show CACTCCCCTCAGCCTCCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02970.hp2 HG02486.hp1 HG02970.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0026 a0001c0008 a0002c0026	a0001c0008t0001 a0002c0026t0032 a0001c0008t0001 a0002c0026t0032	a0001c0008t0001g0027 a0002c0026t0032g0034 a0001c0008t0001g0027 a0002c0026t0032g0034	2	448	0.0045	19	c.54 others(30): Show c.5458_*5459insACTCCCCTCAGCCTCCTCG	PGGHG	ENSG00000142102.16	transcript	ENST00000409548.7	protein_coding		4101		chr11	TogoVar
PGLYRP2_chr19_15463645_15484501	15482612	C C	CTTCCTTC others(12): Show CTTCCTTCCTTCTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	155	0.0065	19	c.-32 others(30): Show c.-3242_-3241insAGAAAGAAGAAGGAAGGAA	PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding		3112		chr19	TogoVar
PGLYRP2_chr19_15463645_15484501	15482612	C C	CTTCCTTC others(12): Show CTTCCTTCTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	155	0.0065	19	c.-32 others(30): Show c.-3242_-3241insAGAAAGAAAGAAGAAGGAA	PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding		3112		chr19	TogoVar
PGLYRP2_chr19_15463645_15484501	15482612	C C	CTTCTTCT others(12): Show CTTCTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0059	1	155	0.0065	19	c.-32 others(30): Show c.-3242_-3241insAGAAAGAAAGAAAGAAGAA	PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding		3112		chr19	TogoVar
PGM1_chr1_63588411_63665245	63647259	C C	CATATATA others(12): Show CATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	137	0.0073	19	c.114 others(38): Show c.1145-1249_1145-1248insATATATATATATATATATA	PGM1	ENSG00000079739.17	transcript	ENST00000371084.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
PGM2L1_chr11_74325316_74403433	74355553	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0014 a0004c0005t0014	a0004c0005t0014g0181 a0004c0005t0014g0181	1	168	0.0060	19	c.556 others(36): Show c.556-3996_556-3978dupTTTTTTTTTTTTTTTTTTT	PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding	5/13			chr11	TogoVar
PGM2_chr4_37821686_37867937	37841158	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0003 a0003c0010t0003	a0003c0010t0003g0264 a0003c0010t0003g0264	1	205	0.0049	19	c.719 others(34): Show c.719+899_719+900insGTGTGTGTGTGTGTGTGTG	PGM2	ENSG00000169299.14	transcript	ENST00000381967.9	protein_coding	6/13			chr4	TogoVar
PGM2_chr4_37821686_37867937	37841188	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA19000.hp1 NA19066.hp1 others(3): Show HG01981.hp2 NA19000.hp1 NA19066.hp1 NA19077.hp2 NA19087.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0001 a0001c0002t0002 a0001c0004t0001	a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 others(3): Show a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0073 a0001c0002t0002g0099 a0001c0004t0001g0253	6	363	0.0165	19	c.719 others(34): Show c.719+929_719+930insTGTGTGTGTGTGTGTGTGT	PGM2	ENSG00000169299.14	transcript	ENST00000381967.9	protein_coding	6/13			chr4	TogoVar
PGPEP1_chr19_18335598_18374950	18338732	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG02293.hp1 HG02683.hp1 others(1): Show HG01978.hp1 HG02293.hp1 HG02683.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0022 a0001c0001t0073 others(1): Show a0001c0001t0010 a0001c0001t0022 a0001c0001t0073 a0001c0001t0075	a0001c0001t0010g0060 a0001c0001t0022g0054 a0001c0001t0073g0055 others(1): Show a0001c0001t0010g0060 a0001c0001t0022g0054 a0001c0001t0073g0055 a0001c0001t0075g0056	4	95	0.0421	19	c.-19 others(30): Show c.-1950_-1949insAAAAAAAAAAAAAAAAAAA	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding		1865		chr19	TogoVar
PGPEP1_chr19_18335598_18374950	18363033	T T	TTGTGGTG others(12): Show TTGTGGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	54	0.0185	19	c.438 others(34): Show c.438-354_438-353insGTGTGTGTGTGTGTGTGTG	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
PGR_chr11_101024624_101134813	101046292	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0171 a0001c0003t0002g0171	1	16	0.0625	19	c.248 others(38): Show c.2488+3618_2488+3636dupAAAAAAAAAAAAAAAAAAA	PGR	ENSG00000082175.16	transcript	ENST00000325455.10	protein_coding	6/7			chr11	TogoVar
PHACTR1_chr6_12711767_13292837	13013835	G G	GGCAGCGC others(12): Show GGCAGCGCGCGGGGGCCGGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	108	0.0093	19	c.251 others(38): Show c.251-39522_251-39504dupGCGGGGGCCGGAGCAGCGC	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR3_chr20_59599540_59852711	59622981	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01168.hp1 HG01192.hp2 others(10): Show HG00738.hp2 HG01168.hp1 HG01192.hp2 HG02055.hp1 HG02572.hp2 HG02622.hp2 HG03098.hp1 HG03139.hp2 HG03486.hp2 HG03516.hp2 HG03669.hp1 NA18906.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0016	a0001c0001t0001g0040 a0001c0001t0001g0062 a0001c0001t0001g0117 others(10): Show a0001c0001t0001g0040 a0001c0001t0001g0062 a0001c0001t0001g0117 a0001c0001t0001g0126 a0001c0001t0001g0165 a0001c0001t0003g0122 a0001c0001t0003g0127 a0001c0001t0004g0148 a0001c0001t0004g0197 a0001c0001t0005g0153 a0001c0001t0006g0156 a0001c0001t0010g0020 a0001c0001t0016g0068	13	42	0.3095	19	c.118 others(38): Show c.118+17851_118+17869dupAAAAAAAAAAAAAAAAAAA	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59635142	T T	TCTTTTTC others(12): Show TCTTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0027 a0001c0001t0013g0027	1	242	0.0041	19	c.118 others(38): Show c.118+30014_118+30015insTTCTTTCTTTCTTTCCTTT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR4_chr1_28364740_28505364	28395818	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0115 a0001c0001t0038g0115	1	95	0.0105	19	c.-38 others(38): Show c.-38-11586_-38-11568dupTTTTTTTTTTTTTTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHACTR4_chr1_28364740_28505364	28450974	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp1 HG01070.hp2 others(39): Show HG00140.hp2 HG00741.hp1 HG01070.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01192.hp2 HG01243.hp2 HG01433.hp2 HG01517.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG02148.hp1 HG02293.hp2 HG02486.hp1 HG02602.hp2 HG02683.hp2 HG02895.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03669.hp2 HG03831.hp2 HG04199.hp2 HG04204.hp2 NA18939.hp2 NA18978.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA19030.hp1 NA19043.hp2 NA19064.hp2 NA19067.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0012 a0002c0002t0002 others(11): Show a0001c0001t0001 a0001c0001t0012 a0002c0002t0002 a0002c0002t0003 a0002c0002t0011 a0002c0002t0017 a0002c0002t0019 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0002t0035 a0002c0002t0036 a0002c0002t0043 a0002c0002t0046	a0001c0001t0001g0112 a0001c0001t0012g0111 a0002c0002t0002g0145 others(39): Show a0001c0001t0001g0112 a0001c0001t0012g0111 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0149 a0002c0002t0002g0155 a0002c0002t0002g0160 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0186 a0002c0002t0002g0189 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0195 a0002c0002t0002g0197 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0209 a0002c0002t0002g0213 a0002c0002t0002g0215 a0002c0002t0002g0218 a0002c0002t0003g0001 a0002c0002t0003g0123 a0002c0002t0003g0124 a0002c0002t0003g0165 a0002c0002t0003g0176 a0002c0002t0003g0177 a0002c0002t0003g0201 a0002c0002t0003g0203 a0002c0002t0011g0204 a0002c0002t0011g0211 a0002c0002t0011g0216 a0002c0002t0017g0159 a0002c0002t0017g0163 a0002c0002t0019g0200 a0002c0002t0028g0150 a0002c0002t0029g0126 a0002c0002t0030g0151 a0002c0002t0035g0219 a0002c0002t0036g0168 a0002c0002t0043g0208 a0002c0002t0046g0152	42	118	0.3559	19	c.17- others(34): Show c.17-8109_17-8091dupTTTTTTTTTTTTTTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHAF1_chr16_67104941_67153544	67108679	T T	TATCTATC others(12): Show TATCTATCTATCTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG02602.hp1 HG00140.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0203 a0001c0001t0001g0205	2	221	0.0090	19	c.-14 others(30): Show c.-1497_-1496insATCTATCTATCTATCTATC	PHAF1	ENSG00000125149.12	transcript	ENST00000219139.8	protein_coding		1261		chr16	TogoVar
PHAX_chr5_126595947_126632252	126609095	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03195.hp2 HG03209.hp1 HG02145.hp1 HG03195.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063	3	167	0.0180	19	c.831 others(34): Show c.831+616_831+634dupTTTTTTTTTTTTTTTTTTT	PHAX	ENSG00000164902.14	transcript	ENST00000297540.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
PHEX_chrX_22027325_22256310	22055174	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp2 HG03540.hp1 HG01884.hp1 HG02622.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0029 a0001c0001t0051 a0001c0001t0011 a0001c0001t0029 a0001c0001t0051	a0001c0001t0011g0170 a0001c0001t0029g0015 a0001c0001t0051g0006 a0001c0001t0011g0170 a0001c0001t0029g0015 a0001c0001t0051g0006	3	4	0.7500	19	c.349 others(36): Show c.349+7986_349+8004dupAAAAAAAAAAAAAAAAAAA	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	3/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
PHEX_chrX_22027325_22256310	22118339	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	119	0.0084	19	c.130 others(38): Show c.1302+3761_1302+3779dupAAAAAAAAAAAAAAAAAAA	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	11/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
PHEX_chrX_22027325_22256310	22249453	A A	ATATATAT others(12): Show ATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0008 a0001c0001t0021g0008	1	210	0.0048	19	c.15 others(30): Show c.1500_*1501insTATATATATATATATATAT	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	22/22	1501		chrX	TogoVar
PHEX_chrX_22027325_22256310	22249455	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0016 a0001c0001t0085g0016	1	70	0.0143	19	c.15 others(30): Show c.1503_*1504insAAATATATATATATATATA	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	22/22	1504	INFO_REALIGN_3_PRIME	chrX	TogoVar
PHF12_chr17_28900250_28956518	28923651	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02572.hp2 NA19054.hp1 HG01515.hp2 HG02572.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0179 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0179	3	202	0.0149	19	c.715 others(34): Show c.715+257_715+258insTTTTTTTTTTTTTTTTTTT	PHF12	ENSG00000109118.14	transcript	ENST00000332830.9	protein_coding	4/14			chr17	TogoVar
PHF12_chr17_28900250_28956518	28923653	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03225.hp2 NA19001.hp1 others(2): Show HG02451.hp2 HG03225.hp2 NA19001.hp1 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0001t0001g0137 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0001t0001g0137 a0001c0001t0001g0169	5	67	0.0746	19	c.715 others(34): Show c.715+237_715+255dupTTTTTTTTTTTTTTTTTTT	PHF12	ENSG00000109118.14	transcript	ENST00000332830.9	protein_coding	4/14			chr17	TogoVar
PHF13_chr1_6608731_6629030	6625132	C C	CCCCGCCC others(12): Show CCCCGCCCCTCCCCGCAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0071 a0001c0001t0006g0071	1	410	0.0024	19	c.34 others(30): Show c.3495_*3496insCCCGCCCCTCCCCGCAGGT	PHF13	ENSG00000116273.6	transcript	ENST00000377648.5	protein_coding		1103		chr1	TogoVar
PHF13_chr1_6608731_6629030	6626101	A A	AGTTCGAG others(12): Show AGTTCGAGACCTGCCTGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0099 a0001c0001t0014g0099	1	410	0.0024	19	c.44 others(30): Show c.4464_*4465insGTTCGAGACCTGCCTGGGC	PHF13	ENSG00000116273.6	transcript	ENST00000377648.5	protein_coding		2072		chr1	TogoVar
PHF14_chr7_10968872_11174618	10985636	C C	CCGGTTTT others(12): Show CCGGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	282	0.0035	19	c.900 others(36): Show c.900+2477_900+2478insCGGTTTTTTTTTTTTTTTT	PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	3/17			chr7	TogoVar
PHF19_chr9_120850651_120882188	120872037	C C	CAAAAAAA others(12): Show CAAAAAAAAAGAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG00738.hp2 others(5): Show HG00099.hp1 HG00642.hp2 HG00738.hp2 HG01074.hp1 HG01169.hp2 HG01496.hp2 HG03492.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0001t0004 a0001c0002t0004	a0001c0001t0004g0013 a0001c0001t0004g0056 a0001c0001t0004g0065 others(3): Show a0001c0001t0004g0013 a0001c0001t0004g0056 a0001c0001t0004g0065 a0001c0001t0004g0287 a0001c0002t0004g0286 a0001c0002t0004g0288	8	114	0.0702	19	c.269 others(36): Show c.269-1500_269-1499insTTTTTTTTTCTTTTTTTTT	PHF19	ENSG00000119403.15	transcript	ENST00000373896.8	protein_coding	3/14			chr9	TogoVar
PHF20_chr20_35767015_35955370	35793995	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03017.hp1 HG04228.hp2 others(1): Show HG02257.hp1 HG03017.hp1 HG04228.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0096 a0002c0002t0003g0118 a0002c0002t0003g0134 others(1): Show a0002c0002t0002g0096 a0002c0002t0003g0118 a0002c0002t0003g0134 a0002c0002t0003g0146	4	91	0.0440	19	c.-32 others(36): Show c.-32-7492_-32-7474dupAAAAAAAAAAAAAAAAAAA	PHF20	ENSG00000025293.17	transcript	ENST00000374012.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHF20_chr20_35767015_35955370	35904767	C C	CTCCTCCT others(12): Show CTCCTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01952.hp1 HG02258.hp1 others(10): Show HG00544.hp1 HG01952.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02809.hp1 HG02886.hp1 HG03516.hp1 HG03688.hp1 HG03834.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0020 a0001c0005t0002 a0002c0002t0003 a0002c0002t0008	a0001c0001t0002g0151 a0001c0001t0002g0160 a0001c0001t0002g0168 others(10): Show a0001c0001t0002g0151 a0001c0001t0002g0160 a0001c0001t0002g0168 a0001c0001t0002g0184 a0001c0001t0002g0196 a0001c0001t0004g0034 a0001c0001t0007g0180 a0001c0001t0007g0182 a0001c0001t0020g0153 a0001c0005t0002g0149 a0001c0005t0002g0155 a0002c0002t0003g0143 a0002c0002t0008g0140	13	14	0.9286	19	c.156 others(38): Show c.1561+5123_1561+5124insCCTTCCTTCCTTCCTTCCT	PHF20	ENSG00000025293.17	transcript	ENST00000374012.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHF21A_chr11_45924319_46126454	45958419	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA18953.hp2 NA18968.hp1 HG01433.hp2 NA18953.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0141 a0001c0001t0003g0224 a0001c0001t0003g0130 a0001c0001t0003g0141 a0001c0001t0003g0224	3	102	0.0294	19	c.997 others(36): Show c.997-4795_997-4794insATATATATTTTTTTTTTTT	PHF21A	ENSG00000135365.17	transcript	ENST00000676320.1	protein_coding	10/18			chr11	TogoVar
PHF21A_chr11_45924319_46126454	45958419	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0104 a0001c0001t0003g0104	1	100	0.0100	19	c.997 others(36): Show c.997-4795_997-4794insATATATATATTTTTTTTTT	PHF21A	ENSG00000135365.17	transcript	ENST00000676320.1	protein_coding	10/18			chr11	TogoVar

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