Joint Open Genome and Omics Platform (JoGo)

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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
PTGIR_chr19_46615468_46630089	46619604	G G	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	420	0.0024	20	c.16 others(31): Show c.1675_*1676insTTTCTTTCTTTCTTTCTTTC	PTGIR	ENSG00000160013.9	transcript	ENST00000291294.7	protein_coding		863		chr19	TogoVar
PTGIR_chr19_46615468_46630089	46619654	A A	AAAGAAAG others(13): Show AAAGAAAGAAAGAAAGAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	20	c.16 others(31): Show c.1625_*1626insCTTTTCTTTCTTTCTTTCTT	PTGIR	ENSG00000160013.9	transcript	ENST00000291294.7	protein_coding		813		chr19	TogoVar
PTGR1_chr9_111557567_111604647	111560944	A A	AATATATA others(13): Show AATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	408	0.0025	20	c.21 others(31): Show c.2157_*2176dupATATATATATATATATATAT	PTGR1	ENSG00000106853.20	transcript	ENST00000407693.7	protein_coding		1622		chr9	TogoVar
PTGR1_chr9_111557567_111604647	111560974	T T	TATATATA others(13): Show TATATATAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	408	0.0025	20	c.21 others(31): Show c.2146_*2147insCTCTCTCTCTCTCTATATAT	PTGR1	ENSG00000106853.20	transcript	ENST00000407693.7	protein_coding		1592		chr9	TogoVar
PTGR1_chr9_111557567_111604647	111561110	T T	TATATATA others(13): Show TATATATAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0147 a0002c0002t0002g0147	1	408	0.0025	20	c.20 others(31): Show c.2010_*2011insCTCTCTCTCTCTCTATATAT	PTGR1	ENSG00000106853.20	transcript	ENST00000407693.7	protein_coding		1456		chr9	TogoVar
PTGR1_chr9_111557567_111604647	111572772	A A	AAAAAAAA others(13): Show AAAAAAAAAAATTAAAAAATT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0262 a0001c0001t0002g0262	1	408	0.0025	20	c.760 others(37): Show c.760+1961_760+1962insAATTTTTTAATTTTTTTTTT	PTGR1	ENSG00000106853.20	transcript	ENST00000407693.7	protein_coding	8/9			chr9	TogoVar
PTGR2_chr14_73846831_73890726	73882800	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01928.hp1 HG01978.hp2 HG01123.hp2 HG01928.hp1 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0017 a0001c0002t0005g0197 a0001c0002t0005g0017 a0001c0002t0005g0197	3	420	0.0071	20	c.979 others(35): Show c.979+381_979+400dupTTTTTTTTTTTTTTTTTTTT	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(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG01891.hp2 others(1): Show HG00099.hp2 HG00738.hp2 HG01891.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0055 a0001c0001t0004g0056 others(1): Show a0001c0001t0004g0042 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0072	4	420	0.0095	20	c.979 others(35): Show c.979+763_979+782dupTTTTTTTTTTTTTTTTTTTT	PTGR2	ENSG00000140043.12	transcript	ENST00000555661.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTGS1_chr9_122366024_122400703	122396077	A A	AATATATA others(13): Show AATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02723.hp2 HG03195.hp1 others(3): Show HG02109.hp2 HG02723.hp2 HG03195.hp1 HG03579.hp2 NA18522.hp1 NA21309.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0003c0024 a0005c0010 a0001c0002 a0003c0024 a0005c0010	a0001c0002t0002 a0003c0024t0026 a0005c0010t0002 a0001c0002t0002 a0003c0024t0026 a0005c0010t0002	a0001c0002t0002g0020 a0001c0002t0002g0045 a0001c0002t0002g0046 others(2): Show a0001c0002t0002g0020 a0001c0002t0002g0045 a0001c0002t0002g0046 a0003c0024t0026g0077 a0005c0010t0002g0012	6	332	0.0181	20	c.35 others(31): Show c.3533_*3534insATATATATATATATATATAT	PTGS1	ENSG00000095303.17	transcript	ENST00000362012.7	protein_coding		375		chr9	TogoVar
PTH2R_chr2_208401792_208499506	208408724	G G	GAGAGAGA others(13): Show GAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01433.hp2 HG01943.hp2 others(11): Show HG00280.hp1 HG01433.hp2 HG01943.hp2 HG02015.hp2 HG02132.hp1 HG02145.hp1 HG02165.hp2 HG02451.hp1 HG02615.hp2 HG02922.hp2 HG02965.hp1 HG03471.hp2 HG03704.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0003t0003 a0001c0008t0003 a0001c0001t0001 a0001c0003t0003 a0001c0008t0003	a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 others(11): Show a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0003t0003g0027 a0001c0003t0003g0028 a0001c0003t0003g0029 a0001c0003t0003g0030 a0001c0003t0003g0034 a0001c0003t0003g0148 a0001c0003t0003g0149 a0001c0003t0003g0259 a0001c0003t0003g0263 a0001c0003t0003g0264 a0001c0008t0003g0147	14	294	0.0476	20	c.75+ others(35): Show c.75+1621_75+1622insGAGAAAGAGAGAGAGAGAGA	PTH2R	ENSG00000144407.10	transcript	ENST00000272847.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTH2R_chr2_208401792_208499506	208408726	G G	GAGAGAGA others(13): Show GAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0033 a0001c0003t0003g0033	1	294	0.0034	20	c.75+ others(35): Show c.75+1621_75+1622insGAGAGAAAGAGAGAGAGAGA	PTH2R	ENSG00000144407.10	transcript	ENST00000272847.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTHLH_chr12_27953084_27977733	27961307	A A	ATATACGT others(13): Show ATATACGTATATATATACGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00735.hp1 HG01106.hp2 others(33): Show HG00408.hp2 HG00735.hp1 HG01106.hp2 HG01109.hp2 HG01934.hp2 HG01952.hp2 HG02165.hp2 HG02735.hp2 HG03041.hp2 HG03098.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18945.hp2 NA18949.hp1 NA18951.hp1 NA18953.hp1 NA18969.hp2 NA18975.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA19006.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19063.hp1 NA19066.hp2 NA19085.hp1 NA19086.hp2 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0025 others(16): Show a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0025 a0001c0001t0003g0057 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0105 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0221 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0234	36	456	0.0790	20	c.524 others(37): Show c.524+2040_524+2041insCACGTATATATATACGTATA	PTHLH	ENSG00000087494.16	transcript	ENST00000545234.6	protein_coding	5/5			chr12	TogoVar
PTK2B_chr8_27320552_27464386	27350975	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp2 NA18991.hp2 others(1): Show HG02922.hp1 HG03130.hp2 NA18991.hp2 NA20300.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0025 a0002c0006 others(1): Show a0001c0001 a0001c0025 a0002c0006 a0007c0032	a0001c0001t0003 a0001c0025t0001 a0002c0006t0001 others(1): Show a0001c0001t0003 a0001c0025t0001 a0002c0006t0001 a0007c0032t0003	a0001c0001t0003g0047 a0001c0025t0001g0019 a0002c0006t0001g0062 others(1): Show a0001c0001t0003g0047 a0001c0025t0001g0019 a0002c0006t0001g0062 a0007c0032t0003g0284	4	328	0.0122	20	c.-38 others(39): Show c.-38+25310_-38+25311insAAAAAAAAAAAAAAAAAAAA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27350990	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	328	0.0031	20	c.-38 others(39): Show c.-38+25310_-38+25311insAAAAAAAAAAAAAAAAAATA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27405035	C C	CCTCTCTC others(13): Show CCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01169.hp1 HG02080.hp1 others(9): Show HG00673.hp1 HG01169.hp1 HG02080.hp1 HG02135.hp1 HG02145.hp1 HG02293.hp2 HG02559.hp2 HG02622.hp1 HG03195.hp2 HG03710.hp1 NA18995.hp1 NA19000.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0002c0006 others(2): Show a0001c0001 a0002c0003 a0002c0006 a0002c0026 a0003c0014	a0001c0001t0003 a0002c0003t0002 a0002c0006t0001 others(2): Show a0001c0001t0003 a0002c0003t0002 a0002c0006t0001 a0002c0026t0001 a0003c0014t0003	a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0051 others(9): Show a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0059 a0001c0001t0003g0072 a0001c0001t0003g0095 a0001c0001t0003g0143 a0002c0003t0002g0269 a0002c0006t0001g0323 a0002c0026t0001g0238 a0003c0014t0003g0043	12	328	0.0366	20	c.204 others(37): Show c.204+7262_204+7281dupCTCTCTCTCTCTCTCTCTCT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2_chr8_140652900_141006282	140669301	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA19003.hp1 HG02647.hp2 NA19003.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0088 a0001c0003t0001g0226 a0001c0003t0001g0088 a0001c0003t0001g0226	2	290	0.0069	20	c.284 others(37): Show c.2841+406_2841+425dupTATATATATATATATATATA	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	33/35			chr8	TogoVar
PTK2_chr8_140652900_141006282	140902924	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	290	0.0035	20	c.-32 others(39): Show c.-32-12175_-32-12156dupAAAAAAAAAAAAAAAAAAAA	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	2/35			chr8	TogoVar
PTK2_chr8_140652900_141006282	140927973	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA19007.hp2 HG03516.hp1 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0155 a0002c0002t0001g0162 a0001c0003t0001g0155 a0002c0002t0001g0162	2	290	0.0069	20	c.-12 others(39): Show c.-121-2225_-121-2224insATATATATATATATATATAT	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	1/35			chr8	TogoVar
PTK2_chr8_140652900_141006282	140927975	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0238 a0001c0003t0001g0238	1	290	0.0035	20	c.-12 others(39): Show c.-121-2227_-121-2226insATATATATATATATATATAT	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	1/35			chr8	TogoVar
PTK2_chr8_140652900_141006282	141000087	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01884.hp2 HG02559.hp2 others(5): Show HG01099.hp1 HG01884.hp2 HG02559.hp2 HG02922.hp2 HG03704.hp1 NA18994.hp1 NA19010.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001	a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0287 others(5): Show a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0287 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0238 a0001c0003t0002g0237 a0002c0002t0001g0239	8	290	0.0276	20	c.-12 others(39): Show c.-122+1018_-122+1037dupTGTGTGTGTGTGTGTGTGTG	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	1/35			chr8	TogoVar
PTK7_chr6_43071314_43166715	43157364	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	272	0.0037	20	c.272 others(39): Show c.2722-1452_2722-1451insATATATATATATATATTTTT	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(13): Show ATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03834.hp1 HG01433.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0071 a0001c0001t0001g0011 a0001c0001t0001g0071	2	272	0.0074	20	c.272 others(39): Show c.2722-1452_2722-1451insATATATATATATTTTTTTTT	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(13): Show ATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	272	0.0037	20	c.272 others(39): Show c.2722-1452_2722-1451insATATATATATTTTTTTTTTT	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(13): Show ATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	272	0.0037	20	c.272 others(39): Show c.2722-1452_2722-1451insATATATATTTTTTTTTTTTT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTK7_chr6_43071314_43166715	43163591	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0203 a0001c0002t0001g0203	1	272	0.0037	20	c.27 others(31): Show c.2710_*2711insAAAAAAAAAAAAAAAAAAAA	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding		1877		chr6	TogoVar
PTK7_chr6_43071314_43166715	43164793	T T	TACACACA others(13): Show TACACACACACACACTCACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0269 a0001c0001t0004g0269	1	272	0.0037	20	c.39 others(31): Show c.3912_*3913insACACACACACACACTCACGC	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding		3079		chr6	TogoVar
PTMA_chr2_231703525_231718551	231705109	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01884.hp2 HG02451.hp2 others(2): Show HG01346.hp2 HG01884.hp2 HG02451.hp2 HG02486.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0037 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0004g0007	5	392	0.0128	20	c.-35 others(31): Show c.-3598_-3597insAAAAAAAAAAAAAAAAAAAA	PTMA	ENSG00000187514.17	transcript	ENST00000409115.8	protein_coding		3415		chr2	TogoVar
PTMA_chr2_231703525_231718551	231716031	C C	CGCTCCCT others(13): Show CGCTCCCTCACTGGACCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01884.hp2 HG02055.hp2 others(27): Show HG01346.hp2 HG01884.hp2 HG02055.hp2 HG02145.hp2 HG02257.hp1 HG02486.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 NA18522.hp1 NA19043.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0023 others(14): Show a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0002g0004 a0001c0001t0003g0028 a0001c0001t0004g0007 a0001c0001t0004g0010 a0001c0001t0004g0029 a0001c0001t0004g0033	30	392	0.0765	20	c.31 others(31): Show c.3180_*3181insGCTCCCTCACTGGACCCCGT	PTMA	ENSG00000187514.17	transcript	ENST00000409115.8	protein_coding		2481		chr2	TogoVar
PTMA_chr2_231703525_231718551	231717489	A A	AATTTTTT others(13): Show AATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	392	0.0026	20	c.46 others(31): Show c.4638_*4639insATTTTTTTTTTTTTTTTTTT	PTMA	ENSG00000187514.17	transcript	ENST00000409115.8	protein_coding		3939		chr2	TogoVar
PTN_chr7_137222341_137348733	137280699	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp2 HG02809.hp2 others(2): Show HG02622.hp2 HG02717.hp2 HG02809.hp2 HG02897.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0027 a0001c0001t0001g0060 a0001c0001t0002g0022 others(2): Show a0001c0001t0001g0027 a0001c0001t0001g0060 a0001c0001t0002g0022 a0001c0001t0002g0072 a0001c0001t0002g0163	5	296	0.0169	20	c.-1- others(37): Show c.-1-25745_-1-25726dupTTTTTTTTTTTTTTTTTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137283952	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	296	0.0034	20	c.-1- others(37): Show c.-1-28998_-1-28979dupAAAAAAAAAAAAAAAAAAAA	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	296	0.0034	20	c.-2+ others(37): Show c.-2+19005_-2+19006insATATATATATATTTTTTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTP4A3_chr8_141387021_141437454	141415624	C C	CGGGGGGC others(13): Show CGGGGGGCAGGGGGCGGGGCG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02976.hp2 HG01884.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	2	323	0.0062	20	c.-85 others(39): Show c.-853-5749_-853-5730dupGGGGCGGGGGGGCAGGGGGC	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTPN11_chr12_112413947_112514918	112442830	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0152 a0001c0001t0003g0152	1	300	0.0033	20	c.15- others(35): Show c.15-3417_15-3398dupTATATATATATATATATATA	PTPN11	ENSG00000179295.19	transcript	ENST00000351677.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPN12_chr7_77532295_77645069	77625468	G G	GCGCCCTC others(13): Show GCGCCCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	310	0.0032	20	c.102 others(39): Show c.1026-1236_1026-1235insGCCCTCTCTCTCTCTCTCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625468	G G	GCTCTCTC others(13): Show GCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02896.hp2 HG02897.hp1 HG02486.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0167	3	310	0.0097	20	c.102 others(39): Show c.1026-1234_1026-1233insTCTCTCTCTCTCTCTCTCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625472	G G	GCTCGCGC others(13): Show GCTCGCGCGCGCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02165.hp1 HG03654.hp2 others(5): Show HG01884.hp2 HG02165.hp1 HG03654.hp2 HG03704.hp1 HG03927.hp1 NA18612.hp2 NA18998.hp1 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0249 others(5): Show a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0249 a0001c0001t0001g0275 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0295 a0004c0004t0001g0288	8	310	0.0258	20	c.102 others(39): Show c.1026-1230_1026-1229insGCGCGCGCTCTCTCTCTCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625472	G G	GCTCGCGC others(13): Show GCTCGCGCGCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02965.hp1 NA20129.hp1 HG02165.hp2 HG02965.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0175 a0002c0002t0001g0014 a0002c0002t0001g0101 a0001c0001t0001g0175 a0002c0002t0001g0014 a0002c0002t0001g0101	3	310	0.0097	20	c.102 others(39): Show c.1026-1230_1026-1229insGCGCGCTCTCTCTCTCTCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625472	G G	GCTCGCGC others(13): Show GCTCGCGCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01256.hp2 HG01258.hp1 others(4): Show HG01175.hp2 HG01256.hp2 HG01258.hp1 HG04184.hp2 NA18975.hp2 NA19066.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0072 others(4): Show a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0001g0077 a0002c0002t0001g0100 a0002c0002t0001g0102	7	310	0.0226	20	c.102 others(39): Show c.1026-1230_1026-1229insGCGCTCTCTCTCTCTCTCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625472	G G	GCTCGCTC others(13): Show GCTCGCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	310	0.0032	20	c.102 others(39): Show c.1026-1230_1026-1229insGCTCTCTCTCTCTCTCTCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625472	G G	GCTCTCTC others(13): Show GCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0172 a0003c0003t0001g0172	1	310	0.0032	20	c.102 others(39): Show c.1026-1201_1026-1182dupTCTCTCTCTCTCTCTCTCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625472	G G	GCTTGCGC others(13): Show GCTTGCGCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0178 a0003c0003t0001g0178	1	310	0.0032	20	c.102 others(39): Show c.1026-1231_1026-1230insTGCGCTCTCTCTCTCTCTCT	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN13_chr4_86589315_86820161	86613633	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA20300.hp1 HG01346.hp1 NA20300.hp1	a0003 a0004 a0003 a0004	a0003c0002 a0004c0005 a0003c0002 a0004c0005	a0003c0002t0002 a0004c0005t0004 a0003c0002t0002 a0004c0005t0004	a0003c0002t0002g0014 a0004c0005t0004g0002 a0003c0002t0002g0014 a0004c0005t0004g0002	2	198	0.0101	20	c.-6+ others(37): Show c.-6+18862_-6+18863insAAAAAAAAAAAAAAAAAAAA	PTPN13	ENSG00000163629.13	transcript	ENST00000411767.7	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr4	TogoVar
PTPN13_chr4_86589315_86820161	86669285	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0012 a0003c0002t0002g0012	1	198	0.0051	20	c.116 others(37): Show c.116-3067_116-3048dupTATATATATATATATATATA	PTPN13	ENSG00000163629.13	transcript	ENST00000411767.7	protein_coding	2/47		INFO_REALIGN_3_PRIME	chr4	TogoVar
PTPN13_chr4_86589315_86820161	86697896	T T	TTTTTCTA others(13): Show TTTTTCTAAAATTTAACTAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01123.hp2 HG01175.hp2 others(5): Show HG00639.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01346.hp1 HG02735.hp2 HG02818.hp2 NA18906.hp1	a0003 a0004 a0017 others(1): Show a0003 a0004 a0017 a0021	a0003c0002 a0004c0005 a0017c0024 others(1): Show a0003c0002 a0004c0005 a0017c0024 a0021c0016	a0003c0002t0002 a0004c0005t0004 a0017c0024t0004 others(1): Show a0003c0002t0002 a0004c0005t0004 a0017c0024t0004 a0021c0016t0006	a0003c0002t0002g0007 a0004c0005t0004g0001 a0004c0005t0004g0002 others(5): Show a0003c0002t0002g0007 a0004c0005t0004g0001 a0004c0005t0004g0002 a0004c0005t0004g0003 a0004c0005t0004g0004 a0004c0005t0004g0005 a0017c0024t0004g0008 a0021c0016t0006g0198	8	198	0.0404	20	c.635 others(37): Show c.635-3344_635-3325dupTTTTCTAAAATTTAACTAAA	PTPN13	ENSG00000163629.13	transcript	ENST00000411767.7	protein_coding	6/47		INFO_REALIGN_3_PRIME	chr4	TogoVar
PTPN13_chr4_86589315_86820161	86718455	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02735.hp2 HG01123.hp2 HG02735.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0004 a0004c0005t0004g0005 a0004c0005t0004g0004 a0004c0005t0004g0005	2	198	0.0101	20	c.138 others(39): Show c.1385+1351_1385+1352insTTTTTTTTTTTTTTTTTTTT	PTPN13	ENSG00000163629.13	transcript	ENST00000411767.7	protein_coding	9/47		INFO_REALIGN_3_PRIME	chr4	TogoVar
PTPN13_chr4_86589315_86820161	86757762	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03041.hp1 HG03130.hp1 others(2): Show HG02615.hp2 HG03041.hp1 HG03130.hp1 HG03516.hp1 NA20300.hp1	a0003 a0010 a0003 a0010	a0003c0002 a0003c0006 a0010c0013 a0003c0002 a0003c0006 a0010c0013	a0003c0002t0002 a0003c0006t0010 a0010c0013t0003 a0003c0002t0002 a0003c0006t0010 a0010c0013t0003	a0003c0002t0002g0014 a0003c0002t0002g0016 a0003c0002t0002g0017 others(2): Show a0003c0002t0002g0014 a0003c0002t0002g0016 a0003c0002t0002g0017 a0003c0006t0010g0029 a0010c0013t0003g0018	5	198	0.0253	20	c.322 others(37): Show c.3224-482_3224-481insAAAAAAAAAAAAAAAAAAAA	PTPN13	ENSG00000163629.13	transcript	ENST00000411767.7	protein_coding	20/47		INFO_REALIGN_3_PRIME	chr4	TogoVar
PTPN13_chr4_86589315_86820161	86761139	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0153 a0002c0001t0002g0153	1	198	0.0051	20	c.355 others(39): Show c.3554-1576_3554-1557dupTATATATATATATATATATA	PTPN13	ENSG00000163629.13	transcript	ENST00000411767.7	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr4	TogoVar
PTPN14_chr1_214343700_214556602	214364766	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02486.hp2 HG03139.hp2 HG01175.hp1 HG02486.hp2 HG03139.hp2	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0008c0009 a0009c0013 a0001c0001 a0008c0009 a0009c0013	a0001c0001t0173 a0008c0009t0034 a0009c0013t0035 a0001c0001t0173 a0008c0009t0034 a0009c0013t0035	a0001c0001t0173g0257 a0008c0009t0034g0084 a0009c0013t0035g0181 a0001c0001t0173g0257 a0008c0009t0034g0084 a0009c0013t0035g0181	3	272	0.0110	20	c.327 others(36): Show c.3272-111_3272-92dupACACACACACACACACACAC	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	17/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214368196	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG01071.hp1 others(35): Show HG00099.hp1 HG00639.hp2 HG01071.hp1 HG01168.hp1 HG01168.hp2 HG01243.hp2 HG01256.hp1 HG01884.hp1 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03579.hp1 HG03831.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA20129.hp1 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0008 a0010	a0001c0001 a0001c0019 a0002c0003 others(5): Show a0001c0001 a0001c0019 a0002c0003 a0003c0005 a0004c0004 a0007c0011 a0008c0009 a0010c0021	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(33): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0043 a0001c0001t0057 a0001c0001t0059 a0001c0001t0067 a0001c0001t0068 a0001c0001t0071 a0001c0001t0074 a0001c0001t0076 a0001c0001t0090 a0001c0001t0096 a0001c0001t0099 a0001c0001t0103 a0001c0001t0136 a0001c0001t0141 a0001c0001t0142 a0001c0001t0160 a0001c0001t0168 a0001c0001t0173 a0001c0001t0174 a0001c0019t0146 a0002c0003t0031 a0002c0003t0182 a0003c0005t0166 a0004c0004t0075 a0004c0004t0175 a0007c0011t0164 a0008c0009t0033 a0008c0009t0034 a0010c0021t0085	a0001c0001t0002g0020 a0001c0001t0002g0180 a0001c0001t0003g0074 others(35): Show a0001c0001t0002g0020 a0001c0001t0002g0180 a0001c0001t0003g0074 a0001c0001t0010g0079 a0001c0001t0021g0018 a0001c0001t0021g0019 a0001c0001t0025g0240 a0001c0001t0026g0192 a0001c0001t0028g0246 a0001c0001t0043g0029 a0001c0001t0057g0028 a0001c0001t0059g0048 a0001c0001t0067g0017 a0001c0001t0068g0151 a0001c0001t0071g0121 a0001c0001t0074g0128 a0001c0001t0076g0013 a0001c0001t0090g0027 a0001c0001t0096g0050 a0001c0001t0099g0087 a0001c0001t0103g0089 a0001c0001t0136g0200 a0001c0001t0141g0232 a0001c0001t0142g0208 a0001c0001t0160g0242 a0001c0001t0168g0250 a0001c0001t0173g0257 a0001c0001t0174g0263 a0001c0019t0146g0212 a0002c0003t0031g0186 a0002c0003t0182g0270 a0003c0005t0166g0255 a0004c0004t0075g0082 a0004c0004t0175g0269 a0007c0011t0164g0249 a0008c0009t0033g0157 a0008c0009t0034g0084 a0010c0021t0085g0080	38	272	0.1397	20	c.327 others(39): Show c.3271+1241_3271+1260dupTAAATAAATAAATAAATAAA	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	17/18			chr1	TogoVar

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