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
PTGES3L_chr17_42963103_42985080	42965970	G G	GGCTGACA others(8): Show GGCTGACAAAGCGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	336	0.0030	15	c.31 others(26): Show c.3177_*3178insTCTCGCTTTGTCAGC	PTGES3L	ENSG00000267060.7	transcript	ENST00000591916.7	protein_coding		2132		chr17	TogoVar
PTGES3L_chr17_42963103_42985080	42981992	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG02257.hp2 HG02451.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0033 a0003c0003t0001g0038 a0003c0003t0001g0033 a0003c0003t0001g0038	2	336	0.0060	15	c.-19 others(26): Show c.-1940_-1939insAAAAAAAAAAAAAAA	PTGES3L	ENSG00000267060.7	transcript	ENST00000591916.7	protein_coding		1913		chr17	TogoVar
PTGES3_chr12_56658349_56693284	56674825	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19084.hp2 NA19091.hp1 NA19009.hp1 NA19084.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0202 a0001c0001t0001g0257 a0001c0001t0001g0084 a0001c0001t0001g0202 a0001c0001t0001g0257	3	372	0.0081	15	c.3-1 others(28): Show c.3-1775_3-1761dupTTTTTTTTTTTTTTT	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTGES3_chr12_56658349_56693284	56683473	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01243.hp1 HG01981.hp1 others(9): Show HG00408.hp2 HG01243.hp1 HG01981.hp1 HG02129.hp1 HG02132.hp2 HG03491.hp1 HG03491.hp2 HG04199.hp1 HG04204.hp2 NA18747.hp2 NA18970.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(9): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0073 a0001c0001t0001g0087 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0011g0209	12	372	0.0323	15	c.2+4 others(28): Show c.2+4510_2+4524dupTTTTTTTTTTTTTTT	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTGES_chr9_129733349_129758042	129736468	A A	AGCCCGCC others(8): Show AGCCCGCCCACCCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01168.hp2 HG01169.hp2 others(36): Show HG00639.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp2 HG01891.hp2 HG02055.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03942.hp2 HG04184.hp1 NA19030.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0007 a0002c0009	a0001c0001t0001 a0001c0001t0022 a0001c0001t0025 others(26): Show a0001c0001t0001 a0001c0001t0022 a0001c0001t0025 a0001c0001t0028 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0047 a0001c0001t0048 a0001c0001t0052 a0001c0001t0056 a0001c0001t0059 a0001c0001t0064 a0001c0001t0069 a0001c0001t0072 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0027 a0001c0002t0032 a0001c0002t0044 a0001c0002t0063 a0001c0002t0067 a0001c0002t0068 a0001c0003t0035 a0001c0003t0057 a0001c0003t0065 a0002c0007t0058 a0002c0009t0073	a0001c0001t0001g0105 a0001c0001t0022g0227 a0001c0001t0025g0225 others(31): Show a0001c0001t0001g0105 a0001c0001t0022g0227 a0001c0001t0025g0225 a0001c0001t0028g0073 a0001c0001t0033g0153 a0001c0001t0033g0291 a0001c0001t0034g0030 a0001c0001t0035g0139 a0001c0001t0047g0266 a0001c0001t0048g0064 a0001c0001t0052g0292 a0001c0001t0056g0300 a0001c0001t0059g0226 a0001c0001t0064g0270 a0001c0001t0069g0290 a0001c0001t0072g0288 a0001c0002t0015g0306 a0001c0002t0016g0317 a0001c0002t0017g0010 a0001c0002t0017g0043 a0001c0002t0017g0320 a0001c0002t0027g0305 a0001c0002t0032g0307 a0001c0002t0032g0313 a0001c0002t0044g0316 a0001c0002t0044g0318 a0001c0002t0063g0303 a0001c0002t0067g0308 a0001c0002t0068g0309 a0001c0003t0035g0293 a0001c0003t0057g0295 a0001c0003t0065g0297 a0002c0007t0058g0276 a0002c0009t0073g0314	39	426	0.0916	15	c.31 others(26): Show c.3142_*3143insCTGGGGTGGGCGGGC	PTGES	ENSG00000148344.11	transcript	ENST00000340607.5	protein_coding		1880		chr9	TogoVar
PTGIR_chr19_46615468_46630089	46616326	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp2 HG02735.hp1 others(4): Show HG02647.hp1 HG02647.hp2 HG02735.hp1 HG03471.hp1 HG03834.hp1 NA18906.hp2 NA19240.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0003c0004 a0004c0006 a0001c0002 a0003c0004 a0004c0006	a0001c0002t0002 a0001c0002t0003 a0003c0004t0001 others(1): Show a0001c0002t0002 a0001c0002t0003 a0003c0004t0001 a0004c0006t0005	a0001c0002t0002g0006 a0001c0002t0003g0045 a0003c0004t0001g0008 others(3): Show a0001c0002t0002g0006 a0001c0002t0003g0045 a0003c0004t0001g0008 a0003c0004t0001g0029 a0003c0004t0001g0030 a0004c0006t0005g0033	7	420	0.0167	15	c.49 others(26): Show c.4953_*4954insAAAAAAAAAAAAAAA	PTGIR	ENSG00000160013.9	transcript	ENST00000291294.7	protein_coding		4141		chr19	TogoVar
PTGIR_chr19_46615468_46630089	46619642	A A	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	15	c.16 others(26): Show c.1637_*1638insCTTTCTTTCTTTCTT	PTGIR	ENSG00000160013.9	transcript	ENST00000291294.7	protein_coding		825		chr19	TogoVar
PTGIR_chr19_46615468_46630089	46619654	A A	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 NA18973.hp1 HG02293.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	420	0.0048	15	c.16 others(26): Show c.1625_*1626insCTTTCTTTCTTTCTT	PTGIR	ENSG00000160013.9	transcript	ENST00000291294.7	protein_coding		813		chr19	TogoVar
PTGR2_chr14_73846831_73890726	73857664	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02055.hp2 HG02886.hp2 others(2): Show HG00423.hp2 HG02055.hp2 HG02886.hp2 HG03490.hp1 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0356 others(2): Show a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0004g0067	5	420	0.0119	15	c.-47 others(32): Show c.-47-1144_-47-1130dupTTTTTTTTTTTTTTT	PTGR2	ENSG00000140043.12	transcript	ENST00000555661.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTGR2_chr14_73846831_73890726	73876483	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0323 a0001c0001t0002g0323	1	420	0.0024	15	c.349 others(30): Show c.349-513_349-499dupTTTTTTTTTTTTTTT	PTGR2	ENSG00000140043.12	transcript	ENST00000555661.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTGR2_chr14_73846831_73890726	73882800	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0205 a0001c0002t0005g0205	1	420	0.0024	15	c.979 others(30): Show c.979+386_979+400dupTTTTTTTTTTTTTTT	PTGR2	ENSG00000140043.12	transcript	ENST00000555661.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTGR2_chr14_73846831_73890726	73883188	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19067.hp2 HG02559.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0044 a0001c0001t0004g0074 a0001c0001t0004g0044 a0001c0001t0004g0074	2	420	0.0048	15	c.979 others(30): Show c.979+768_979+782dupTTTTTTTTTTTTTTT	PTGR2	ENSG00000140043.12	transcript	ENST00000555661.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTGS1_chr9_122366024_122400703	122396683	A A	AAATAATA others(8): Show AAATAATAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	2	332	0.0060	15	c.41 others(26): Show c.4139_*4140insAATAATAATAATAAT	PTGS1	ENSG00000095303.17	transcript	ENST00000362012.7	protein_coding		981		chr9	TogoVar
PTH1R_chr3_46872721_46908799	46895592	T T	TCAGATCT others(8): Show TCAGATCTCCCAACAG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	356	0.0028	15	c.179 others(30): Show c.179-141_179-127dupAGATCTCCCAACAGC	PTH1R	ENSG00000160801.14	transcript	ENST00000449590.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTK2B_chr8_27320552_27464386	27320980	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0019 a0001c0026t0001g0019	1	328	0.0031	15	c.-47 others(26): Show c.-4739_-4738insTTTTTTTTTTTTTTT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding		4571		chr8	TogoVar
PTK2B_chr8_27320552_27464386	27350975	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	328	0.0031	15	c.-38 others(34): Show c.-38+25296_-38+25310dupAAAAAAAAAAAAAAA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27350990	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0174 a0001c0002t0001g0174	1	328	0.0031	15	c.-38 others(34): Show c.-38+25310_-38+25311insAAAAATATATATATA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27383852	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01168.hp1 HG01169.hp2 others(3): Show HG01081.hp1 HG01168.hp1 HG01169.hp2 NA18960.hp2 NA19043.hp2 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0012 a0001c0022 a0002c0003 others(1): Show a0001c0012 a0001c0022 a0002c0003 a0002c0004	a0001c0012t0004 a0001c0022t0004 a0002c0003t0002 others(1): Show a0001c0012t0004 a0001c0022t0004 a0002c0003t0002 a0002c0004t0002	a0001c0012t0004g0057 a0001c0022t0004g0009 a0002c0003t0002g0218 others(3): Show a0001c0012t0004g0057 a0001c0022t0004g0009 a0002c0003t0002g0218 a0002c0003t0002g0255 a0002c0004t0002g0244 a0002c0004t0002g0245	6	328	0.0183	15	c.-37 others(34): Show c.-37-13683_-37-13682insTTTTTTTTTTTTTTT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2_chr8_140652900_141006282	140676765	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0238 a0001c0003t0001g0238	1	290	0.0035	15	c.268 others(34): Show c.2686-1281_2686-1267dupTTTTTTTTTTTTTTT	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	30/35			chr8	TogoVar
PTK2_chr8_140652900_141006282	140820076	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 homoSapiens_chm13v2.hp1 HG01952.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0144 a0001c0001t0012g0008 a0001c0001t0001g0144 a0001c0001t0012g0008	2	290	0.0069	15	c.649 others(32): Show c.649-1071_649-1057dupAAAAAAAAAAAAAAA	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	8/35			chr8	TogoVar
PTK2_chr8_140652900_141006282	140927975	A A	AAATATAT others(8): Show AAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0236 a0001c0003t0001g0236	1	290	0.0035	15	c.-12 others(34): Show c.-121-2227_-121-2226insATATATATATATATT	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	1/35			chr8	TogoVar
PTK2_chr8_140652900_141006282	140927975	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02723.hp2 HG03139.hp1 others(2): Show HG02717.hp1 HG02723.hp2 HG03139.hp1 HG03471.hp1 NA19003.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0184 a0001c0003t0001g0221 a0001c0003t0001g0255 others(2): Show a0001c0003t0001g0184 a0001c0003t0001g0221 a0001c0003t0001g0255 a0001c0003t0001g0276 a0002c0002t0001g0210	5	290	0.0172	15	c.-12 others(34): Show c.-121-2227_-121-2226insATATATATATATATA	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	1/35			chr8	TogoVar
PTK2_chr8_140652900_141006282	140935702	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	290	0.0035	15	c.-12 others(34): Show c.-121-9968_-121-9954dupAAAAAAAAAAAAAAA	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	1/35			chr8	TogoVar
PTK7_chr6_43071314_43166715	43150787	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0084 a0001c0007t0001g0084	1	272	0.0037	15	c.272 others(34): Show c.2721+4104_2721+4118dupTTTTTTTTTTTTTTT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTK7_chr6_43071314_43166715	43152734	T T	TTTATGTT others(8): Show TTTATGTTATGTTATG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03195.hp1 HG02630.hp1 HG03195.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0001 a0003c0004t0002 a0001c0002t0001 a0003c0004t0002	a0001c0002t0001g0183 a0003c0004t0002g0025 a0001c0002t0001g0183 a0003c0004t0002g0025	2	272	0.0074	15	c.272 others(34): Show c.2722-6036_2722-6022dupTATGTTATGTTATGT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTK7_chr6_43071314_43166715	43157364	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0196 a0001c0002t0001g0196	1	272	0.0037	15	c.272 others(34): Show c.2722-1452_2722-1451insATATATATATATTTT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTK7_chr6_43071314_43166715	43157364	A A	ATATATAT others(8): Show ATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	272	0.0037	15	c.272 others(34): Show c.2722-1452_2722-1451insATATATATATTTTTT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTK7_chr6_43071314_43166715	43157364	A A	ATATATAT others(8): Show ATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	272	0.0037	15	c.272 others(34): Show c.2722-1452_2722-1451insATATATTTTTTTTTT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTK7_chr6_43071314_43166715	43157364	A A	ATATTTTT others(8): Show ATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18962.hp1 NA18951.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0211 a0001c0001t0001g0064 a0001c0001t0001g0211	2	272	0.0074	15	c.272 others(34): Show c.2722-1452_2722-1451insATTTTTTTTTTTTTT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTK7_chr6_43071314_43166715	43163810	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG03017.hp1 HG01928.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0195 a0001c0001t0002g0049 a0001c0001t0002g0195	2	272	0.0074	15	c.29 others(26): Show c.2929_*2930insAAAAAAAAAAAAAAA	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding		2096		chr6	TogoVar
PTMA_chr2_231703525_231718551	231705109	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02896.hp2 NA19009.hp2 HG02055.hp2 HG02896.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0001 a0001c0001t0001g0015	3	392	0.0077	15	c.-35 others(26): Show c.-3598_-3597insAAAAAAAAAAAAAAA	PTMA	ENSG00000187514.17	transcript	ENST00000409115.8	protein_coding		3415		chr2	TogoVar
PTMA_chr2_231703525_231718551	231717489	A A	AATTTTTT others(8): Show AATTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01106.hp2 HG01361.hp2 others(6): Show HG00642.hp1 HG01106.hp2 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01516.hp2 HG02965.hp2 HG03540.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0004 a0001c0001t0002g0004 a0001c0001t0003g0024 others(2): Show a0001c0001t0001g0004 a0001c0001t0002g0004 a0001c0001t0003g0024 a0001c0001t0004g0007 a0001c0001t0004g0033	9	392	0.0230	15	c.46 others(26): Show c.4638_*4639insATTTTTTTTTTTTTT	PTMA	ENSG00000187514.17	transcript	ENST00000409115.8	protein_coding		3939		chr2	TogoVar
PTN_chr7_137222341_137348733	137239407	T T	TTTATTTA others(8): Show TTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02965.hp1 NA18975.hp1 others(1): Show HG00558.hp2 HG02965.hp1 NA18975.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0186 a0001c0001t0001g0195 a0001c0001t0001g0205 others(1): Show a0001c0001t0001g0186 a0001c0001t0001g0195 a0001c0001t0001g0205 a0001c0001t0002g0185	4	296	0.0135	15	c.452 others(34): Show c.452-11333_452-11332insTAAATAAATAAATAA	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	4/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137278945	C C	CAATAATA others(8): Show CAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18612.hp2 NA18988.hp2 HG04228.hp1 NA18612.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0070 a0001c0001t0001g0250 a0001c0001t0001g0045 a0001c0001t0001g0070 a0001c0001t0001g0250	3	296	0.0101	15	c.-1- others(32): Show c.-1-23986_-1-23972dupATTATTATTATTATT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137280699	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02886.hp1 others(2): Show HG02145.hp1 HG02145.hp2 HG02886.hp1 NA18990.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0091 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0091 a0001c0001t0001g0110 a0001c0001t0001g0115	5	296	0.0169	15	c.-1- others(32): Show c.-1-25740_-1-25726dupTTTTTTTTTTTTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137324417	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18978.hp1 NA18990.hp1 others(1): Show HG01243.hp1 NA18978.hp1 NA18990.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0212 others(1): Show a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0212 a0001c0001t0001g0291	4	296	0.0135	15	c.-2+ others(32): Show c.-2+19007_-2+19021dupTTTTTTTTTTTTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19030.hp1 HG02055.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0209 a0001c0001t0001g0118 a0001c0001t0001g0209	2	296	0.0068	15	c.-2+ others(32): Show c.-2+19005_-2+19006insATTTTTTTTTTTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTP4A3_chr8_141387021_141437454	141436509	A A	AGCCCACC others(8): Show AGCCCACCTGCTCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02922.hp1 HG03471.hp1 others(2): Show HG02300.hp1 HG02922.hp1 HG03471.hp1 HG03516.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0031	a0001c0001t0002g0060 a0001c0001t0004g0036 a0001c0001t0007g0070 others(2): Show a0001c0001t0002g0060 a0001c0001t0004g0036 a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0031g0069	5	323	0.0155	15	c.54 others(26): Show c.5465_*5466insGCCCACCTGCTCAGT	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding		4056		chr8	TogoVar
PTPN12_chr7_77532295_77645069	77537203	A A	AGGCGGCG others(8): Show AGGCGGCGGCGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 NA19091.hp2 HG02738.hp2 NA19091.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0180 a0003c0003t0001g0231 a0003c0003t0001g0180 a0003c0003t0001g0231	2	310	0.0065	15	c.-34 others(24): Show c.-344_-343insGGCGGCGGCGGCGGC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		91		chr7	TogoVar
PTPN12_chr7_77532295_77645069	77564746	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG01099.hp1 others(2): Show HG00408.hp2 HG00609.hp2 HG01099.hp1 HG01981.hp1 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0079 a0002c0002t0001g0082 others(2): Show a0002c0002t0001g0031 a0002c0002t0001g0079 a0002c0002t0001g0082 a0002c0002t0001g0089 a0002c0002t0001g0098	5	310	0.0161	15	c.100 others(32): Show c.100-6316_100-6302dupTTTTTTTTTTTTTTT	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN12_chr7_77532295_77645069	77605409	G G	GGTTTTTT others(8): Show GGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	310	0.0032	15	c.696 others(32): Show c.696-1826_696-1825insGTTTTTTTTTTTTTT	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	8/17			chr7	TogoVar
PTPN12_chr7_77532295_77645069	77605409	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03516.hp1 HG02717.hp1 HG03516.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0111 a0003c0003t0002g0151 a0003c0003t0001g0111 a0003c0003t0002g0151	2	310	0.0065	15	c.696 others(32): Show c.696-1812_696-1798dupTTTTTTTTTTTTTTT	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN13_chr4_86589315_86820161	86613633	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0018 a0018	a0018c0031 a0018c0031	a0018c0031t0002 a0018c0031t0002	a0018c0031t0002g0013 a0018c0031t0002g0013	1	198	0.0051	15	c.-6+ others(32): Show c.-6+18848_-6+18862dupAAAAAAAAAAAAAAA	PTPN13	ENSG00000163629.13	transcript	ENST00000411767.7	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr4	TogoVar
PTPN13_chr4_86589315_86820161	86711098	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03041.hp1 NA18974.hp1 others(1): Show HG00423.hp1 HG03041.hp1 NA18974.hp1 NA20300.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0002 a0002c0001 a0003c0002	a0002c0001t0002 a0003c0002t0002 a0002c0001t0002 a0003c0002t0002	a0002c0001t0002g0111 a0002c0001t0002g0157 a0003c0002t0002g0014 others(1): Show a0002c0001t0002g0111 a0002c0001t0002g0157 a0003c0002t0002g0014 a0003c0002t0002g0017	4	198	0.0202	15	c.119 others(34): Show c.1196-5427_1196-5413dupTTTTTTTTTTTTTTT	PTPN13	ENSG00000163629.13	transcript	ENST00000411767.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr4	TogoVar
PTPN13_chr4_86589315_86820161	86757762	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA18906.hp1 HG01346.hp1 NA18906.hp1	a0004 a0021 a0004 a0021	a0004c0005 a0021c0016 a0004c0005 a0021c0016	a0004c0005t0004 a0021c0016t0006 a0004c0005t0004 a0021c0016t0006	a0004c0005t0004g0002 a0021c0016t0006g0198 a0004c0005t0004g0002 a0021c0016t0006g0198	2	198	0.0101	15	c.322 others(32): Show c.3224-496_3224-482dupAAAAAAAAAAAAAAA	PTPN13	ENSG00000163629.13	transcript	ENST00000411767.7	protein_coding	20/47		INFO_REALIGN_3_PRIME	chr4	TogoVar
PTPN13_chr4_86589315_86820161	86761139	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0160 a0002c0001t0002g0160	1	198	0.0051	15	c.355 others(34): Show c.3554-1588_3554-1587insTATATATATATATAT	PTPN13	ENSG00000163629.13	transcript	ENST00000411767.7	protein_coding	23/47			chr4	TogoVar
PTPN14_chr1_214343700_214556602	214364806	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0161 a0001c0001t0044g0161	1	272	0.0037	15	c.327 others(32): Show c.3272-132_3272-131insCACACACACACACAC	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	17/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214436786	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0079 a0001c0001t0010g0079	1	272	0.0037	15	c.344 others(34): Show c.344+15004_344+15018dupTTTTTTTTTTTTTTT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	3/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214449011	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00438.hp2 others(48): Show HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00639.hp2 HG00733.hp1 HG00738.hp1 HG01074.hp2 HG01175.hp2 HG01256.hp1 HG01257.hp1 HG02004.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02273.hp2 HG02293.hp2 HG02572.hp1 HG02630.hp2 HG02965.hp2 HG03098.hp2 HG03209.hp2 HG03516.hp2 HG03654.hp1 HG03831.hp1 NA18612.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18949.hp2 NA18963.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18979.hp1 NA18988.hp2 NA18989.hp1 NA18995.hp2 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19063.hp1 NA19064.hp2 NA19074.hp1 NA19079.hp1 NA19084.hp1 NA19087.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0001c0016 a0002c0003 a0008c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(31): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0036 a0001c0001t0044 a0001c0001t0048 a0001c0001t0052 a0001c0001t0054 a0001c0001t0067 a0001c0001t0068 a0001c0001t0072 a0001c0001t0074 a0001c0001t0127 a0001c0001t0132 a0001c0001t0134 a0001c0001t0142 a0001c0001t0176 a0001c0001t0177 a0001c0002t0001 a0001c0002t0006 a0001c0002t0012 a0001c0002t0020 a0001c0002t0078 a0001c0002t0081 a0001c0006t0180 a0001c0010t0018 a0001c0016t0001 a0002c0003t0089 a0008c0011t0002	a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0059 others(48): Show a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0059 a0001c0001t0002g0104 a0001c0001t0002g0180 a0001c0001t0003g0093 a0001c0001t0003g0119 a0001c0001t0003g0141 a0001c0001t0003g0166 a0001c0001t0004g0039 a0001c0001t0004g0109 a0001c0001t0005g0100 a0001c0001t0016g0114 a0001c0001t0017g0189 a0001c0001t0018g0175 a0001c0001t0019g0095 a0001c0001t0036g0160 a0001c0001t0044g0161 a0001c0001t0048g0178 a0001c0001t0052g0131 a0001c0001t0054g0120 a0001c0001t0067g0017 a0001c0001t0068g0151 a0001c0001t0072g0113 a0001c0001t0074g0128 a0001c0001t0127g0238 a0001c0001t0132g0222 a0001c0001t0134g0235 a0001c0001t0142g0208 a0001c0001t0176g0265 a0001c0001t0177g0271 a0001c0002t0001g0096 a0001c0002t0001g0110 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0134 a0001c0002t0001g0164 a0001c0002t0001g0177 a0001c0002t0006g0070 a0001c0002t0006g0098 a0001c0002t0006g0103 a0001c0002t0012g0022 a0001c0002t0020g0153 a0001c0002t0078g0085 a0001c0002t0081g0115 a0001c0006t0180g0272 a0001c0010t0018g0108 a0001c0016t0001g0053 a0002c0003t0089g0010 a0008c0011t0002g0016	51	272	0.1875	15	c.344 others(32): Show c.344+2793_344+2794insAAAAAAAAAAAAAAA	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	3/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214465035	G G	GCCCCCCC others(8): Show GCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0088 a0001c0001t0110g0088	1	272	0.0037	15	c.-15 others(30): Show c.-154-93_-154-79dupGGGGGGGGGGGGGGG	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar

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