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
PSMF1_chr20_1113602_1177246	1133555	G G	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG01167.hp1 others(17): Show HG00280.hp1 HG00639.hp1 HG01167.hp1 HG01515.hp2 HG01517.hp2 HG01943.hp2 HG01952.hp2 HG02080.hp1 HG02129.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02723.hp2 NA18941.hp1 NA18977.hp1 NA19043.hp2 NA19078.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 others(3): Show a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0003t0012 a0001c0003t0030 a0001c0003t0046	a0001c0003t0001g0012 a0001c0003t0001g0160 a0001c0003t0001g0164 others(15): Show a0001c0003t0001g0012 a0001c0003t0001g0160 a0001c0003t0001g0164 a0001c0003t0001g0168 a0001c0003t0001g0172 a0001c0003t0004g0170 a0001c0003t0005g0014 a0001c0003t0005g0180 a0001c0003t0005g0181 a0001c0003t0005g0182 a0001c0003t0005g0185 a0001c0003t0005g0186 a0001c0003t0012g0162 a0001c0003t0012g0165 a0001c0003t0012g0166 a0001c0003t0030g0169 a0001c0003t0030g0171 a0001c0003t0046g0173	20	326	0.0614	20	c.366 others(37): Show c.366-1565_366-1564insGTGTATATATATATATATAT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02135.hp1 NA18612.hp1 others(3): Show HG00609.hp2 HG02135.hp1 NA18612.hp1 NA18946.hp1 NA18984.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0003g0194 a0001c0001t0005g0210 a0001c0001t0005g0218 others(3): Show a0001c0001t0003g0194 a0001c0001t0005g0210 a0001c0001t0005g0218 a0001c0001t0006g0195 a0001c0001t0006g0196 a0001c0001t0006g0211	6	326	0.0184	20	c.366 others(37): Show c.366-1551_366-1550insATATATATATATATATATTT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02602.hp1 HG03239.hp1 others(3): Show HG02040.hp2 HG02602.hp1 HG03239.hp1 HG03669.hp1 HG04184.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0044 a0001c0001t0003g0122 a0001c0001t0003g0123 others(3): Show a0001c0001t0003g0044 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0005g0203	6	326	0.0184	20	c.366 others(37): Show c.366-1551_366-1550insATATATATATATATATTTTT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG04228.hp1 NA19240.hp2 others(1): Show HG01433.hp1 HG04228.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0053 a0001c0001t0001 a0001c0001t0053	a0001c0001t0001g0125 a0001c0001t0001g0205 a0001c0001t0001g0216 others(1): Show a0001c0001t0001g0125 a0001c0001t0001g0205 a0001c0001t0001g0216 a0001c0001t0053g0217	4	326	0.0123	20	c.366 others(37): Show c.366-1551_366-1550insATATATATATATATTTTTTT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMG1_chr21_39169769_39188451	39185295	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	392	0.0026	20	c.-19 others(31): Show c.-1930_-1911dupTTTTTTTTTTTTTTTTTTTT	PSMG1	ENSG00000183527.12	transcript	ENST00000331573.8	protein_coding		1845		chr21	TogoVar
PSORS1C1_chr6_31109800_31145092	31127590	T T	TTATTATT others(13): Show TTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0272 a0001c0001t0007g0272	1	449	0.0022	20	c.-65 others(37): Show c.-65+1752_-65+1753insATTATTATTATTATTATTAT	PSORS1C1	ENSG00000204540.11	transcript	ENST00000259881.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
PSPC1_chr13_19697500_19787945	19783255	A A	ATTTTGTT others(13): Show ATTTTGTTTTGTTTTGTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	258	0.0039	20	c.-49 others(29): Show c.-499_-498insCAAAACAAAACAAAACAAAA	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding		311		chr13	TogoVar
PSTK_chr10_122975401_122995390	122980723	C C	CGCGGGGC others(13): Show CGCGGGGCGGGGCGGGGCGGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG01358.hp1 others(13): Show HG00140.hp1 HG00438.hp2 HG01358.hp1 HG01515.hp1 HG02300.hp2 HG02809.hp2 HG03098.hp1 HG03834.hp2 HG04184.hp2 NA18947.hp2 NA18959.hp2 NA18965.hp1 NA18985.hp1 NA19079.hp1 NA19079.hp2 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0017 a0001c0001t0001g0054 a0001c0001t0001g0132 others(5): Show a0001c0001t0001g0017 a0001c0001t0001g0054 a0001c0001t0001g0132 a0001c0001t0001g0133 a0002c0002t0001g0053 a0002c0002t0001g0130 a0003c0003t0001g0016 a0003c0003t0001g0131	16	416	0.0385	20	c.216 others(33): Show c.216+45_216+64dupCGGGGCGGGGCGGGGCGGGG	PSTK	ENSG00000179988.15	transcript	ENST00000406217.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTAFR_chr1_28142166_28181690	28167633	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0022 a0002c0002t0005g0022	1	306	0.0033	20	c.-39 others(37): Show c.-39+8939_-39+8958dupAAAAAAAAAAAAAAAAAAAA	PTAFR	ENSG00000169403.12	transcript	ENST00000373857.8	protein_coding	1/1			chr1	TogoVar
PTBP2_chr1_96716784_96820049	96791826	C C	CTTTTTTT others(13): Show CTTTTTTTTGTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG01069.hp1 others(33): Show HG00280.hp1 HG00558.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01433.hp1 HG01884.hp2 HG02148.hp2 HG02257.hp2 HG03098.hp2 HG03239.hp1 HG03486.hp1 HG03516.hp1 HG03942.hp1 NA18941.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18972.hp2 NA18975.hp2 NA18983.hp1 NA18994.hp1 NA19001.hp2 NA19054.hp1 NA19065.hp2 NA19072.hp1 NA19083.hp1 NA19086.hp1 NA19088.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 a0001c0002t0001 a0001c0002t0005 a0001c0002t0008	a0001c0002t0001g0004 a0001c0002t0001g0151 a0001c0002t0001g0264 others(33): Show a0001c0002t0001g0004 a0001c0002t0001g0151 a0001c0002t0001g0264 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0285 a0001c0002t0001g0287 a0001c0002t0001g0290 a0001c0002t0001g0310 a0001c0002t0001g0313 a0001c0002t0001g0319 a0001c0002t0001g0324 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0001g0336 a0001c0002t0001g0337 a0001c0002t0001g0347 a0001c0002t0001g0351 a0001c0002t0001g0352 a0001c0002t0005g0274 a0001c0002t0008g0278 a0001c0002t0008g0286 a0001c0002t0008g0288 a0001c0002t0008g0289 a0001c0002t0008g0321	36	364	0.0989	20	c.904 others(37): Show c.904+6580_904+6581insGTTTTTTTTTTGTTTTTTTT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP2_chr1_96716784_96820049	96791827	T T	TTTTTTTT others(13): Show TTTTTTTTGTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp1 HG02145.hp2 others(10): Show HG01109.hp1 HG02109.hp1 HG02145.hp2 HG02717.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG03041.hp1 HG03209.hp1 HG03540.hp1 HG03579.hp2 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0261 a0001c0002t0001g0266 a0001c0002t0001g0269 others(10): Show a0001c0002t0001g0261 a0001c0002t0001g0266 a0001c0002t0001g0269 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0341 a0001c0002t0001g0342 a0001c0002t0001g0343	13	364	0.0357	20	c.904 others(37): Show c.904+6580_904+6581insGTTTTTTTTTTTGTTTTTTT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP2_chr1_96716784_96820049	96799294	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02818.hp2 HG02886.hp1 others(3): Show HG02486.hp2 HG02818.hp2 HG02886.hp1 HG06807.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0309 a0001c0002t0001g0312 a0001c0002t0001g0318 others(3): Show a0001c0002t0001g0309 a0001c0002t0001g0312 a0001c0002t0001g0318 a0001c0002t0001g0342 a0001c0002t0001g0343 a0001c0003t0001g0260	6	364	0.0165	20	c.905 others(37): Show c.905-5487_905-5486insTTTTTTTTTTTTTTTTTTTT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP3_chr9_112213435_112338619	112244289	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02258.hp1 HG02280.hp2 others(5): Show HG02148.hp2 HG02258.hp1 HG02280.hp2 HG02965.hp2 HG02976.hp2 HG03209.hp1 HG03453.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0304 a0001c0001t0001g0308 a0001c0001t0001g0309 others(5): Show a0001c0001t0001g0304 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0316 a0001c0001t0001g0337 a0001c0001t0002g0254	8	342	0.0234	20	c.802 others(37): Show c.802+6639_802+6640insTTTTTTTTTTTTTTTTTTTT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	7/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112256272	A A	AATATATA others(13): Show AATATATATACATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	1	342	0.0029	20	c.517 others(37): Show c.517-3485_517-3484insATATATATATGTATATATAT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	5/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320291	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	342	0.0029	20	c.-52 others(39): Show c.-52+13178_-52+13179insATATATATATATATATTTTT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320291	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG03471.hp2 HG01243.hp1 HG01884.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0010g0242 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0010g0242	3	342	0.0088	20	c.-52 others(39): Show c.-52+13178_-52+13179insATATATATATATATATATTT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320314	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0142 a0001c0001t0016g0142	1	342	0.0029	20	c.-52 others(39): Show c.-52+13155_-52+13156insAATATATATATATATATATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320314	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01346.hp2 HG02040.hp1 others(5): Show HG01257.hp2 HG01346.hp2 HG02040.hp1 HG03209.hp2 HG04204.hp1 NA18947.hp1 NA19007.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0141 a0001c0001t0001g0268 a0001c0001t0001g0292 others(5): Show a0001c0001t0001g0141 a0001c0001t0001g0268 a0001c0001t0001g0292 a0001c0001t0001g0320 a0001c0001t0001g0333 a0001c0001t0003g0207 a0001c0001t0003g0218 a0001c0001t0003g0261	8	342	0.0234	20	c.-52 others(39): Show c.-52+13155_-52+13156insAAAATATATATATATATATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320314	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	342	0.0029	20	c.-52 others(39): Show c.-52+13155_-52+13156insAAAAAATATATATATATATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTCD1_chr7_99411739_99443798	99440655	C C	CATATATA others(13): Show CATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0243 a0001c0001t0005g0243	1	380	0.0026	20	c.-20 others(31): Show c.-2010_-1991dupATATATATATATATATATAT	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1858		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0244 a0001c0001t0005g0244	1	380	0.0026	20	c.-20 others(31): Show c.-2010_-2009insAAAATATATATATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG01192.hp1 others(12): Show HG00558.hp2 HG00597.hp2 HG01192.hp1 HG01433.hp1 HG01975.hp2 HG02040.hp1 HG02897.hp2 HG04199.hp2 NA18612.hp1 NA18939.hp1 NA18971.hp2 NA19005.hp1 NA19009.hp2 NA19087.hp2 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0014 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0014 a0001c0002t0023	a0001c0002t0001g0186 a0001c0002t0002g0002 a0001c0002t0002g0003 others(6): Show a0001c0002t0001g0186 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0038 a0001c0002t0002g0181 a0001c0002t0002g0187 a0001c0002t0002g0190 a0001c0002t0014g0212 a0001c0002t0023g0185	15	380	0.0395	20	c.-20 others(31): Show c.-2010_-2009insAAAAAAAAAATATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02132.hp2 NA18945.hp2 others(4): Show HG01099.hp1 HG02132.hp2 NA18945.hp2 NA18959.hp1 NA18967.hp2 NA18979.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0007 others(3): Show a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0007 a0001c0002t0002g0196 a0001c0002t0002g0198 a0001c0002t0002g0203	7	380	0.0184	20	c.-20 others(31): Show c.-2010_-2009insAAAAAAAAAAAATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATTT others(13): Show ATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0169 a0001c0002t0002g0169	1	380	0.0026	20	c.-20 others(31): Show c.-2010_-2009insAAAAAAAAAAAAAAAATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCH1_chr9_95437980_95514266	95452328	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0038 a0001c0003t0005g0038	1	284	0.0035	20	c.344 others(39): Show c.3449+1130_3449+1149dupGTGTGTGTGTGTGTGTGTGT	PTCH1	ENSG00000185920.19	transcript	ENST00000331920.11	protein_coding	20/23			chr9	TogoVar
PTCH1_chr9_95437980_95521971	95452328	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0159 a0001c0003t0004g0159	1	278	0.0036	20	c.344 others(39): Show c.3446+1130_3446+1149dupGTGTGTGTGTGTGTGTGTGT	PTCH1	ENSG00000185920.19	transcript	ENST00000437951.6	protein_coding	20/23			chr9	TogoVar
PTCH2_chr1_44816938_44848253	44830587	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01891.hp2 HG02055.hp2 HG00423.hp2 HG01891.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0021 a0001c0003 a0001c0021	a0001c0003t0001 a0001c0021t0001 a0001c0003t0001 a0001c0021t0001	a0001c0003t0001g0162 a0001c0003t0001g0199 a0001c0021t0001g0218 a0001c0003t0001g0162 a0001c0003t0001g0199 a0001c0021t0001g0218	3	370	0.0081	20	c.813 others(35): Show c.813+260_813+261insTTTTTTTTTTTTTTTTTTTT	PTCH2	ENSG00000117425.14	transcript	ENST00000372192.4	protein_coding	6/21			chr1	TogoVar
PTCHD1_chrX_23329849_23409374	23342310	A A	ATATATAT others(13): Show ATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0143 a0001c0001t0143	a0001c0001t0143g0291 a0001c0001t0143g0291	1	297	0.0034	20	c.351 others(37): Show c.351+7085_351+7086insATATATATATATTTTTTTTT	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23394409	G G	GACACACA others(13): Show GACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01358.hp1 HG04184.hp2 NA18970.hp1 HG01358.hp1 HG04184.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0061 a0001c0001t0021 a0001c0001t0061	a0001c0001t0021g0028 a0001c0001t0021g0156 a0001c0001t0061g0034 a0001c0001t0021g0028 a0001c0001t0021g0156 a0001c0001t0061g0034	3	297	0.0101	20	c.24 others(29): Show c.247_*266dupACACACACACACACACACAC	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	3/3	267	INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23401023	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0155 a0001c0001t0155	a0001c0001t0155g0112 a0001c0001t0155g0112	1	297	0.0034	20	c.68 others(31): Show c.6854_*6873dupGTGTGTGTGTGTGTGTGTGT	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	3/3	6874	INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD4_chr6_47851673_48116197	47882741	G G	GAGATATA others(13): Show GAGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0074 a0001c0001t0078g0074	1	182	0.0055	20	c.899 others(37): Show c.899-2806_899-2805insATATATATATATATATATCT	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	4/4			chr6	TogoVar
PTCHD4_chr6_47851673_48116197	47882741	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01109.hp2 HG01257.hp2 others(5): Show HG01069.hp1 HG01109.hp2 HG01257.hp2 HG01258.hp1 HG02056.hp1 HG02145.hp1 HG02698.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0002 a0001c0001t0012 a0001c0001t0034 others(2): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0034 a0001c0001t0091 a0001c0010t0090	a0001c0001t0002g0005 a0001c0001t0002g0040 a0001c0001t0002g0041 others(5): Show a0001c0001t0002g0005 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0012g0043 a0001c0001t0034g0026 a0001c0001t0091g0160 a0001c0010t0090g0072	8	182	0.0440	20	c.899 others(37): Show c.899-2806_899-2805insATATATATATATATATATAT	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	4/4			chr6	TogoVar
PTDSS2_chr11_445279_496399	490771	C C	CGTGTGTA others(13): Show CGTGTGTACGTGTGTATGCGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01496.hp2 others(2): Show HG00639.hp1 HG00741.hp1 HG01496.hp2 HG02602.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0006 a0002c0003t0006 a0001c0001t0006 a0002c0003t0006	a0001c0001t0006g0023 a0001c0001t0006g0189 a0001c0001t0006g0190 others(2): Show a0001c0001t0006g0023 a0001c0001t0006g0189 a0001c0001t0006g0190 a0002c0003t0006g0196 a0002c0003t0006g0198	5	346	0.0145	20	c.19 others(29): Show c.199_*218dupTGTGTATGCGTGTGTGTACG	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	12/12	219	INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	490787	T T	TGCGTGTG others(13): Show TGCGTGTGTGTACGCGTGTAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG01175.hp2 HG01257.hp2 others(8): Show HG00099.hp1 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0017 a0002c0003t0005g0018 a0002c0003t0005g0188 others(6): Show a0002c0003t0005g0017 a0002c0003t0005g0018 a0002c0003t0005g0188 a0002c0003t0005g0191 a0002c0003t0005g0192 a0002c0003t0005g0193 a0002c0003t0005g0194 a0002c0003t0005g0195 a0002c0003t0005g0197	11	346	0.0318	20	c.22 others(29): Show c.223_*224insACGCGTGTGTGTACGCGTGT	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	12/12	224	INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	494148	C C	CGCTGGGC others(13): Show CGCTGGGCTGGGCTGGGCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0159 a0001c0001t0004g0159	1	346	0.0029	20	c.35 others(31): Show c.3566_*3567insGCTGGGCTGGGCTGGGCTGG	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding		2750		chr11	TogoVar
PTEN_chr10_87858625_87976930	87907514	T T	TATATATA others(13): Show TATATATATGAGATATATCTC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0091 a0001c0001t0006g0091	1	322	0.0031	20	c.164 others(39): Show c.164+13423_164+13442dupCTCATATATATGAGATATAT	PTEN	ENSG00000171862.15	transcript	ENST00000371953.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTER_chr10_16432010_16518745	16452194	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03471.hp2 HG04199.hp2 others(1): Show HG02886.hp2 HG03471.hp2 HG04199.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0037 a0001c0001t0002 a0001c0001t0006 a0001c0001t0037	a0001c0001t0002g0120 a0001c0001t0002g0174 a0001c0001t0006g0088 others(1): Show a0001c0001t0002g0120 a0001c0001t0002g0174 a0001c0001t0006g0088 a0001c0001t0037g0109	4	378	0.0106	20	c.-49 others(39): Show c.-49+15155_-49+15174dupCACACACACACACACACACA	PTER	ENSG00000165983.15	transcript	ENST00000535784.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTER_chr10_16432010_16518745	16477258	C C	CGATAGAT others(13): Show CGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02572.hp2 NA18964.hp2 others(4): Show HG02293.hp2 HG02572.hp2 NA18964.hp2 NA18970.hp1 NA18999.hp2 NA19065.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0014	a0001c0001t0001g0086 a0001c0001t0001g0177 a0001c0001t0001g0196 others(4): Show a0001c0001t0001g0086 a0001c0001t0001g0177 a0001c0001t0001g0196 a0001c0001t0001g0335 a0001c0001t0002g0168 a0001c0001t0006g0142 a0001c0001t0014g0183	7	378	0.0185	20	c.-48 others(37): Show c.-48-7055_-48-7036dupAGATAGATAGATAGATAGAT	PTER	ENSG00000165983.15	transcript	ENST00000535784.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTER_chr10_16432010_16518745	16477298	A A	AGATAGAT others(13): Show AGATAGATAGATAGATAGATG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	378	0.0027	20	c.-48 others(37): Show c.-48-7036_-48-7035insAGATAGATAGATAGATGGAT	PTER	ENSG00000165983.15	transcript	ENST00000535784.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTER_chr10_16432010_16518745	16477304	A A	ATAGATAG others(13): Show ATAGATAGATAGATGGATGTC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02145.hp2 HG02451.hp1 others(5): Show HG01952.hp1 HG02145.hp2 HG02451.hp1 HG02895.hp1 HG03225.hp1 HG03688.hp2 HG04199.hp1 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0004c0004t0002	a0001c0001t0002g0211 a0001c0001t0002g0296 a0001c0001t0002g0304 others(5): Show a0001c0001t0002g0211 a0001c0001t0002g0296 a0001c0001t0002g0304 a0001c0001t0003g0167 a0001c0001t0010g0268 a0001c0001t0013g0077 a0001c0001t0016g0217 a0004c0004t0002g0323	8	378	0.0212	20	c.-48 others(37): Show c.-48-7032_-48-7031insAGATAGATAGATGGATGTCT	PTER	ENSG00000165983.15	transcript	ENST00000535784.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTER_chr10_16432010_16518745	16507201	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp2 NA19007.hp1 HG02055.hp2 HG02486.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0033 a0001c0001t0002 a0001c0001t0016 a0001c0001t0033	a0001c0001t0002g0353 a0001c0001t0016g0310 a0001c0001t0033g0314 a0001c0001t0002g0353 a0001c0001t0016g0310 a0001c0001t0033g0314	3	378	0.0079	20	c.839 others(37): Show c.839+2042_839+2061dupATATATATATATATATATAT	PTER	ENSG00000165983.15	transcript	ENST00000535784.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTF1A_chr10_23187312_23199245	23189486	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	410	0.0024	20	c.-30 others(31): Show c.-3045_-3044insTGTGTGTGTGTGTGTGTGTG	PTF1A	ENSG00000168267.7	transcript	ENST00000376504.4	protein_coding		2825		chr10	TogoVar
PTGER2_chr14_52309312_52333598	52331579	C C	CTCCAGAT others(13): Show CTCCAGATCTTATCCAAGTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	20	c.41 others(31): Show c.4125_*4126insTCCAGATCTTATCCAAGTTA	PTGER2	ENSG00000125384.7	transcript	ENST00000245457.6	protein_coding		2982		chr14	TogoVar
PTGER3_chr1_70965782_71052816	70996639	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02055.hp1 HG02723.hp2 others(12): Show HG00408.hp1 HG02055.hp1 HG02723.hp2 HG02897.hp1 HG02970.hp1 HG03130.hp2 HG03942.hp1 NA18959.hp2 NA18960.hp2 NA18999.hp1 NA19054.hp2 NA19065.hp2 NA19067.hp2 NA19070.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0057 a0001c0001t0001g0130 a0001c0001t0001g0196 others(12): Show a0001c0001t0001g0057 a0001c0001t0001g0130 a0001c0001t0001g0196 a0001c0001t0001g0298 a0001c0001t0002g0025 a0001c0001t0002g0035 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0052 a0001c0001t0002g0197 a0001c0001t0002g0294 a0001c0001t0002g0304 a0001c0001t0004g0287 a0001c0001t0008g0142	15	372	0.0403	20	c.107 others(41): Show c.1077+15646_1077+15665dupTAAATAAATAAATAAATAAA	PTGER3	ENSG00000050628.21	transcript	ENST00000306666.10	protein_coding	2/3			chr1	TogoVar
PTGER3_chr1_70965782_71052816	71025131	C C	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02723.hp1 HG03139.hp2 others(4): Show HG01891.hp2 HG02723.hp1 HG03139.hp2 HG03471.hp1 NA19030.hp2 NA19070.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 a0001c0001t0001 a0001c0001t0002 a0001c0004t0002	a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 others(4): Show a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0002g0017 a0001c0001t0002g0043 a0001c0001t0002g0299 a0001c0004t0002g0348	7	372	0.0188	20	c.898 others(39): Show c.898-12667_898-12648dupAAGGAAGGAAGGAAGGAAGG	PTGER3	ENSG00000050628.21	transcript	ENST00000306666.10	protein_coding	1/3			chr1	TogoVar
PTGER4_chr5_40674915_40698735	40697226	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19078.hp2 NA19011.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0004 a0001c0001t0004g0017 a0001c0001t0001g0004 a0001c0001t0004g0017	2	406	0.0049	20	c.48 others(31): Show c.4848_*4849insAAAGAAAGAAAGAAAGAAAG	PTGER4	ENSG00000171522.6	transcript	ENST00000302472.4	protein_coding		3492		chr5	TogoVar
PTGES3_chr12_56658349_56693284	56674825	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18956.hp1 NA18983.hp2 others(1): Show HG01891.hp1 NA18956.hp1 NA18983.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0126 a0001c0001t0001g0212 others(1): Show a0001c0001t0001g0103 a0001c0001t0001g0126 a0001c0001t0001g0212 a0001c0001t0001g0247	4	372	0.0108	20	c.3-1 others(33): Show c.3-1780_3-1761dupTTTTTTTTTTTTTTTTTTTT	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTGES3_chr12_56658349_56693284	56683473	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	372	0.0027	20	c.2+4 others(33): Show c.2+4505_2+4524dupTTTTTTTTTTTTTTTTTTTT	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTGFR_chr1_78485974_78545701	78532364	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0330 a0001c0002t0024g0330	1	386	0.0026	20	c.799 others(37): Show c.799-4028_799-4009dupATATATATATATATATATAT	PTGFR	ENSG00000122420.10	transcript	ENST00000370757.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTGFR_chr1_78485974_78545701	78532390	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01192.hp1 HG02135.hp2 others(3): Show HG00597.hp1 HG01192.hp1 HG02135.hp2 HG03710.hp2 HG04204.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0153 a0001c0001t0001g0207 a0001c0001t0001g0209 others(3): Show a0001c0001t0001g0153 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0224 a0001c0001t0018g0150	6	386	0.0155	20	c.799 others(37): Show c.799-4009_799-4008insATATATATATATGTATATAT	PTGFR	ENSG00000122420.10	transcript	ENST00000370757.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar

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