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
PCDHA11_chr5_140863957_141017347	140924895	AAAAAAAA others(14): Show AAAAAAAAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02257.hp1 HG01978.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0075 a0001c0001t0001g0076	2	167	0.0120	-21	c.239 others(42): Show c.2391+53406_2391+53426delAAAAAATAAAATAAAATAAAA	PCDHA11	ENSG00000249158.7	transcript	ENST00000398640.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA12_chr5_140870308_141017347	140924895	AAAAAAAA others(14): Show AAAAAAAAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02257.hp1 HG01978.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0078 a0001c0001t0001g0079	2	165	0.0121	-21	c.236 others(42): Show c.2367+47061_2367+47081delAAAAAATAAAATAAAATAAAA	PCDHA12	ENSG00000251664.5	transcript	ENST00000398631.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA13_chr5_140877124_141017347	140924895	AAAAAAAA others(14): Show AAAAAAAAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02257.hp1 HG01978.hp2 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0087 a0001c0002t0001g0088	2	163	0.0123	-21	c.239 others(42): Show c.2394+40238_2394+40258delAAAAAATAAAATAAAATAAAA	PCDHA13	ENSG00000239389.8	transcript	ENST00000289272.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA1_chr5_140781140_141017347	140924895	AAAAAAAA others(14): Show AAAAAAAAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02257.hp1 HG01978.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0032 a0001c0001t0001g0042	2	130	0.0154	-21	c.239 others(42): Show c.2395-54049_2395-54029delAAAAAATAAAATAAAATAAAA	PCDHA1	ENSG00000204970.10	transcript	ENST00000504120.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA2_chr5_140789852_141017347	140924895	AAAAAAAA others(14): Show AAAAAAAAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02257.hp1 HG01978.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0032 a0001c0001t0001g0041	2	132	0.0152	-21	c.238 others(42): Show c.2389-54049_2389-54029delAAAAAATAAAATAAAATAAAA	PCDHA2	ENSG00000204969.7	transcript	ENST00000526136.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA3_chr5_140796057_141017347	140924895	AAAAAAAA others(14): Show AAAAAAAAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02257.hp1 HG01978.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0055 a0001c0001t0001g0065	2	136	0.0147	-21	c.239 others(42): Show c.2395-54049_2395-54029delAAAAAATAAAATAAAATAAAA	PCDHA3	ENSG00000255408.4	transcript	ENST00000522353.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA4_chr5_140802068_141017347	140924895	AAAAAAAA others(14): Show AAAAAAAAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02257.hp2 HG01978.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0064 a0002c0002t0001g0056 a0002c0002t0001g0064	2	139	0.0144	-21	c.238 others(42): Show c.2386-54049_2386-54029delAAAAAATAAAATAAAATAAAA	PCDHA4	ENSG00000204967.13	transcript	ENST00000530339.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA5_chr5_140816613_141017347	140924895	AAAAAAAA others(14): Show AAAAAAAAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02257.hp1 HG01978.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0176 a0001c0001t0001g0140 a0001c0001t0001g0176	2	143	0.0140	-21	c.235 others(42): Show c.2353-54049_2353-54029delAAAAAATAAAATAAAATAAAA	PCDHA5	ENSG00000204965.9	transcript	ENST00000529859.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA6_chr5_140822960_141017347	140924895	AAAAAAAA others(14): Show AAAAAAAAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02257.hp2 HG01978.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0091 a0001c0001t0001g0092	2	152	0.0132	-21	c.239 others(42): Show c.2395-54049_2395-54029delAAAAAATAAAATAAAATAAAA	PCDHA6	ENSG00000081842.18	transcript	ENST00000529310.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA7_chr5_140829269_141017347	140924895	AAAAAAAA others(14): Show AAAAAAAAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02257.hp1 HG01978.hp2 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0215 a0002c0002t0001g0216	2	160	0.0125	-21	c.235 others(42): Show c.2356-54049_2356-54029delAAAAAATAAAATAAAATAAAA	PCDHA7	ENSG00000204963.6	transcript	ENST00000525929.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA8_chr5_140836187_141017347	140924895	AAAAAAAA others(14): Show AAAAAAAAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02257.hp2 HG01978.hp2 HG02257.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0001 a0008c0009t0001 a0001c0001t0001 a0008c0009t0001	a0001c0001t0001g0212 a0008c0009t0001g0211 a0001c0001t0001g0212 a0008c0009t0001g0211	2	165	0.0121	-21	c.239 others(42): Show c.2395-54049_2395-54029delAAAAAATAAAATAAAATAAAA	PCDHA8	ENSG00000204962.6	transcript	ENST00000531613.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA9_chr5_140843382_141017347	140924895	AAAAAAAA others(14): Show AAAAAAAAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02257.hp1 HG01978.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0178 a0001c0001t0001g0179	2	162	0.0123	-21	c.239 others(42): Show c.2395-54049_2395-54029delAAAAAATAAAATAAAATAAAA	PCDHA9	ENSG00000204961.7	transcript	ENST00000532602.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHAC1_chr5_140921299_141017347	140924895	AAAAAAAA others(14): Show AAAAAAAAAAATAAAATAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG02257.hp2 HG01978.hp1 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0128 a0001c0002t0001g0125 a0001c0002t0001g0128	2	183	0.0109	-21	c.-19 others(32): Show c.-1997_-1977delAAAAAAAAAATAAAATAAAAT	PCDHAC1	ENSG00000248383.5	transcript	ENST00000253807.3	protein_coding		1403		chr5	TogoVar
PCDHB1_chr5_141046374_141064346	141048112	CAATTTTT others(14): Show CAATTTTTTTGATGAATTATTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0000 a0001c0001t0006g0000	1	420	0.0024	-21	c.-33 others(32): Show c.-3358_-3338delAATTTTTTTGATGAATTATTT	PCDHB1	ENSG00000171815.6	transcript	ENST00000306549.6	protein_coding		3261		chr5	TogoVar
PCED1B_chr12_47074621_47241660	47089480	ATATATAT others(14): Show ATATATATATATATGTATATAC	A A	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0240 a0001c0002t0001g0240	1	320	0.0031	-21	c.-60 others(40): Show c.-609+9756_-609+9776delTATATATATATATGTATATAC	PCED1B	ENSG00000179715.13	transcript	ENST00000546455.6	protein_coding	1/3			chr12	TogoVar
PCGF3_chr4_700832_775089	733050	GCCCCTGC others(14): Show GCCCCTGCCGCGTGCTGCCTCC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp2 NA19240.hp1 HG02145.hp2 HG02615.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0002c0002t0056 a0001c0001t0002 a0002c0002t0002 a0002c0002t0056	a0001c0001t0002g0337 a0002c0002t0002g0338 a0002c0002t0056g0339 a0001c0001t0002g0337 a0002c0002t0002g0338 a0002c0002t0056g0339	3	364	0.0082	-21	c.-9- others(34): Show c.-9-621_-9-601delCCCCTGCCGCGTGCTGCCTCC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	3/10			chr4	TogoVar
PCGF6_chr10_103297796_103356140	103339807	AAAAACAC others(14): Show AAAAACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18747.hp1 NA18977.hp1 others(1): Show HG00609.hp2 NA18747.hp1 NA18977.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0263 a0001c0001t0001g0298 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0263 a0001c0001t0001g0298 a0001c0001t0001g0349	4	354	0.0113	-21	c.782 others(38): Show c.782+5196_782+5216delGTGTGTGTGTGTGTGTGTTTT	PCGF6	ENSG00000156374.16	transcript	ENST00000369847.4	protein_coding	6/9			chr10	TogoVar
PCLAF_chr15_64359304_64386441	64377489	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02922.hp2 HG03453.hp2 HG01109.hp2 HG02922.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0066 a0001c0001t0014g0242 a0001c0001t0014g0243 a0001c0001t0002g0066 a0001c0001t0014g0242 a0001c0001t0014g0243	3	257	0.0117	-21	c.128 others(36): Show c.128-605_128-585delATATATATATATATATATATA	PCLAF	ENSG00000166803.14	transcript	ENST00000300035.9	protein_coding	2/3			chr15	TogoVar
PCM1_chr8_17917988_18034948	18001995	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00609.hp2 others(40): Show HG00423.hp2 HG00544.hp2 HG00609.hp2 HG01928.hp2 HG01981.hp1 HG01993.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02129.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18956.hp2 NA18970.hp1 NA18972.hp2 NA18975.hp1 NA18978.hp1 NA18986.hp2 NA18987.hp1 NA18992.hp1 NA19001.hp1 NA19006.hp2 NA19011.hp2 NA19055.hp1 NA19057.hp2 NA19058.hp1 NA19066.hp1 NA19072.hp2 NA19074.hp2 NA19078.hp1 NA19080.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp2 NA19088.hp1	a0001 a0003 a0009 others(2): Show a0001 a0003 a0009 a0029 a0030	a0001c0001 a0003c0003 a0003c0006 others(5): Show a0001c0001 a0003c0003 a0003c0006 a0003c0012 a0003c0040 a0009c0013 a0029c0039 a0030c0046	a0001c0001t0002 a0003c0003t0002 a0003c0003t0011 others(14): Show a0001c0001t0002 a0003c0003t0002 a0003c0003t0011 a0003c0003t0013 a0003c0003t0043 a0003c0003t0064 a0003c0003t0065 a0003c0006t0002 a0003c0006t0007 a0003c0006t0011 a0003c0006t0013 a0003c0006t0054 a0003c0012t0002 a0003c0040t0013 a0009c0013t0002 a0029c0039t0002 a0030c0046t0002	a0001c0001t0002g0045 a0001c0001t0002g0072 a0003c0003t0002g0216 others(40): Show a0001c0001t0002g0045 a0001c0001t0002g0072 a0003c0003t0002g0216 a0003c0003t0002g0217 a0003c0003t0002g0220 a0003c0003t0002g0221 a0003c0003t0002g0222 a0003c0003t0002g0225 a0003c0003t0002g0226 a0003c0003t0002g0229 a0003c0003t0002g0234 a0003c0003t0002g0235 a0003c0003t0002g0236 a0003c0003t0002g0238 a0003c0003t0002g0241 a0003c0003t0002g0242 a0003c0003t0002g0244 a0003c0003t0002g0255 a0003c0003t0002g0262 a0003c0003t0002g0280 a0003c0003t0011g0228 a0003c0003t0011g0256 a0003c0003t0013g0248 a0003c0003t0043g0346 a0003c0003t0064g0254 a0003c0003t0065g0219 a0003c0006t0002g0177 a0003c0006t0002g0230 a0003c0006t0002g0233 a0003c0006t0002g0252 a0003c0006t0002g0260 a0003c0006t0007g0218 a0003c0006t0011g0246 a0003c0006t0013g0247 a0003c0006t0013g0250 a0003c0006t0013g0251 a0003c0006t0054g0232 a0003c0012t0002g0341 a0003c0040t0013g0249 a0009c0013t0002g0148 a0009c0013t0002g0214 a0029c0039t0002g0227 a0030c0046t0002g0243	43	104	0.4135	-21	c.482 others(40): Show c.4828-4248_4828-4228delTTTTTTTTTTTTTTTTTTTTT	PCM1	ENSG00000078674.20	transcript	ENST00000325083.13	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr8	TogoVar
PCSK2_chr20_17222040_17489578	17348031	GAAGAAAG others(14): Show GAAGAAAGAAAGAAAGAAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02071.hp1 HG02738.hp1 others(3): Show HG00597.hp1 HG02071.hp1 HG02738.hp1 HG03831.hp2 NA18953.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0013 a0001c0001t0015 others(1): Show a0001c0001t0008 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018	a0001c0001t0008g0241 a0001c0001t0008g0245 a0001c0001t0013g0118 others(3): Show a0001c0001t0008g0241 a0001c0001t0008g0245 a0001c0001t0013g0118 a0001c0001t0015g0066 a0001c0001t0015g0242 a0001c0001t0018g0015	6	258	0.0233	-21	c.283 others(40): Show c.283-10276_283-10256delGAAAGAAAGAAAGAAAGAAAG	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCSK5_chr9_75885673_76367975	75994396	CTTTCTTT others(14): Show CTTTCTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0087 a0001c0001t0026g0087	1	78	0.0128	-21	c.411 others(38): Show c.411+8155_411+8175delCTTTTTTTTTTTTTTTTTTTT	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	75994400	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0025 a0001c0001t0005g0025	1	87	0.0115	-21	c.411 others(38): Show c.411+8177_411+8197delTTTTTTTTTTTTTTTTTTTTT	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76173496	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp2 NA19030.hp1 HG02055.hp2 HG02559.hp2 NA19030.hp1	a0002 a0010 a0002 a0010	a0002c0016 a0002c0047 a0010c0007 a0002c0016 a0002c0047 a0010c0007	a0002c0016t0019 a0002c0047t0045 a0010c0007t0008 a0002c0016t0019 a0002c0047t0045 a0010c0007t0008	a0002c0016t0019g0064 a0002c0047t0045g0128 a0010c0007t0008g0005 a0002c0016t0019g0064 a0002c0047t0045g0128 a0010c0007t0008g0005	3	14	0.2143	-21	c.175 others(40): Show c.1757-1474_1757-1454delTTTTTTTTTTTTTTTTTTTTT	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	13/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK6_chr15_101298933_101494707	101490312	GCAGGCCG others(14): Show GCAGGCCGTGCAGGTGAACCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02647.hp2 HG02886.hp1 others(3): Show HG00735.hp2 HG02647.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 NA19030.hp2	a0001 a0005 a0001 a0005	a0001c0019 a0001c0058 a0001c0059 others(1): Show a0001c0019 a0001c0058 a0001c0059 a0005c0060	a0001c0019t0001 a0001c0019t0003 a0001c0019t0005 others(3): Show a0001c0019t0001 a0001c0019t0003 a0001c0019t0005 a0001c0058t0005 a0001c0059t0001 a0005c0060t0001	a0001c0019t0001g0306 a0001c0019t0003g0304 a0001c0019t0005g0305 others(3): Show a0001c0019t0001g0306 a0001c0019t0003g0304 a0001c0019t0005g0305 a0001c0058t0005g0307 a0001c0059t0001g0308 a0005c0060t0001g0303	6	227	0.0264	-21	c.-66 others(30): Show c.-663_-643delGGGGTTCACCTGCACGGCCTG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		606		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101490320	TGCAGGTG others(14): Show TGCAGGTGAACCCCCAGGCCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02451.hp1 HG02451.hp2 others(6): Show HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02622.hp2 HG02965.hp1 NA19030.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0010 others(2): Show a0001c0001 a0001c0002 a0001c0010 a0002c0008 a0005c0049	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0003 a0001c0010t0002 a0002c0008t0002 a0005c0049t0015	a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0002g0287 others(6): Show a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0002g0287 a0001c0001t0005g0285 a0001c0002t0003g0283 a0001c0002t0003g0289 a0001c0010t0002g0258 a0002c0008t0002g0016 a0005c0049t0015g0145	9	332	0.0271	-21	c.-67 others(30): Show c.-671_-651delGCGGCCTGGGGGTTCACCTGC	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		614		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101490383	TGCAGGTG others(14): Show TGCAGGTGAACCCCCAGGCCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0146	1	302	0.0033	-21	c.-73 others(30): Show c.-734_-714delGCGGCCTGGGGGTTCACCTGC	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		677		chr15	TogoVar
PCYT1A_chr3_196229368_196292726	196243493	TCCCTCTC others(14): Show TCCCTCTCCCCTCTCCCTTCTC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0287 a0001c0001t0035g0287	1	308	0.0032	-21	c.487 others(36): Show c.487-874_487-854delGAGAAGGGAGAGGGGAGAGGG	PCYT1A	ENSG00000161217.12	transcript	ENST00000431016.6	protein_coding	5/8			chr3	TogoVar
PCYT1A_chr3_196229368_196292726	196250485	GGCTGAGG others(14): Show GGCTGAGGACCAGATACACTAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01070.hp1 HG01071.hp1 others(19): Show HG00099.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01109.hp1 HG01358.hp1 HG02257.hp2 HG02451.hp1 HG02559.hp2 HG02683.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03017.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp2 HG03704.hp1 NA19043.hp2 NA19240.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0013 a0001c0001t0017 others(1): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0017 a0001c0004t0002	a0001c0001t0003g0007 a0001c0001t0003g0164 a0001c0001t0003g0165 others(17): Show a0001c0001t0003g0007 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0178 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0013g0110 a0001c0001t0013g0111 a0001c0001t0013g0112 a0001c0001t0013g0113 a0001c0001t0017g0179 a0001c0004t0002g0008	22	308	0.0714	-21	c.218 others(38): Show c.218-2183_218-2163delATAGTGTATCTGGTCCTCAGC	PCYT1A	ENSG00000161217.12	transcript	ENST00000431016.6	protein_coding	3/8			chr3	TogoVar
PCYT1A_chr3_196229368_196292726	196250779	CCAGATAC others(14): Show CCAGATACACTATGCTGAGGAT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0287 a0001c0001t0035g0287	1	308	0.0032	-21	c.218 others(38): Show c.218-2477_218-2457delATCCTCAGCATAGTGTATCTG	PCYT1A	ENSG00000161217.12	transcript	ENST00000431016.6	protein_coding	3/8			chr3	TogoVar
PCYT1B_chrX_24553087_24652347	24593445	CTTTTCTT others(14): Show CTTTTCTTTTCTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0065 a0001c0002t0065	a0001c0002t0065g0178 a0001c0002t0065g0178	1	237	0.0042	-21	c.335 others(38): Show c.335-3292_335-3272delAGAAAAGAAAAGAAAAGAAAA	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	3/7			chrX	TogoVar
PDAP1_chr7_99389673_99413597	99397056	CCTCCACG others(14): Show CCTCCACGGGTTCTGAAGTCTA	C C	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0149 a0001c0001t0003g0143 a0001c0001t0003g0149	2	332	0.0060	-21	c.488 others(36): Show c.488-337_488-317delTAGACTTCAGAACCCGTGGAG	PDAP1	ENSG00000106244.13	transcript	ENST00000350498.8	protein_coding	5/5			chr7	TogoVar
PDCD11_chr10_103391626_103451294	103422055	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG03491.hp2 others(5): Show HG01070.hp1 HG01071.hp2 HG03491.hp2 HG03492.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0007 a0006c0009t0001g0023 a0006c0009t0001g0079 others(1): Show a0006c0009t0001g0007 a0006c0009t0001g0023 a0006c0009t0001g0079 a0006c0009t0001g0080	8	148	0.0541	-21	c.249 others(38): Show c.2497+512_2497+532delATTATTATTATTATTATTATT	PDCD11	ENSG00000148843.15	transcript	ENST00000369797.8	protein_coding	17/35		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDE1C_chr7_31746179_32075407	32027607	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp1 HG01257.hp1 others(8): Show HG00741.hp2 HG01109.hp1 HG01257.hp1 HG02056.hp2 HG02280.hp1 HG02717.hp1 HG02818.hp1 HG02922.hp1 HG03831.hp2 NA18961.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0001c0010 a0001c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0004t0004 a0001c0005t0001 a0001c0005t0003 a0001c0010t0002 a0001c0021t0001	a0001c0001t0001g0060 a0001c0001t0001g0189 a0001c0001t0002g0103 others(8): Show a0001c0001t0001g0060 a0001c0001t0001g0189 a0001c0001t0002g0103 a0001c0001t0002g0197 a0001c0001t0006g0078 a0001c0004t0004g0113 a0001c0005t0001g0195 a0001c0005t0003g0079 a0001c0005t0003g0080 a0001c0010t0002g0193 a0001c0021t0001g0102	11	23	0.4783	-21	c.128 others(40): Show c.128+23926_128+23946delTTTTTTTTTTTTTTTTTTTTT	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE3A_chr12_20363537_20693583	20386049	TAAATATA others(14): Show TAAATATATATAAATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp1 HG02896.hp2 others(3): Show HG02647.hp1 HG02886.hp1 HG02896.hp2 HG02970.hp2 HG03209.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0081 a0001c0001t0088 a0001c0001t0101 others(3): Show a0001c0001t0081 a0001c0001t0088 a0001c0001t0101 a0001c0001t0147 a0002c0002t0108 a0002c0002t0123	a0001c0001t0081g0167 a0001c0001t0088g0166 a0001c0001t0101g0165 others(3): Show a0001c0001t0081g0167 a0001c0001t0088g0166 a0001c0001t0101g0165 a0001c0001t0147g0041 a0002c0002t0108g0164 a0002c0002t0123g0161	6	123	0.0488	-21	c.960 others(40): Show c.960+15825_960+15845delTAAAATATATATAAATATATA	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE3A_chr12_20363537_20693583	20467933	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG03098.hp1 others(3): Show HG01168.hp2 HG01169.hp1 HG03098.hp1 HG03139.hp2 NA18945.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0011 a0001c0001t0029 a0001c0001t0069 others(3): Show a0001c0001t0011 a0001c0001t0029 a0001c0001t0069 a0001c0001t0092 a0001c0003t0067 a0002c0002t0138	a0001c0001t0011g0037 a0001c0001t0029g0038 a0001c0001t0069g0036 others(3): Show a0001c0001t0011g0037 a0001c0001t0029g0038 a0001c0001t0069g0036 a0001c0001t0092g0021 a0001c0003t0067g0068 a0002c0002t0138g0035	6	9	0.6667	-21	c.961 others(40): Show c.961-88700_961-88680delAAAAAAAAAAAAAAAAAAAAA	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE3A_chr12_20363537_20693583	20541075	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0139 a0001c0001t0033g0139	1	15	0.0667	-21	c.961 others(40): Show c.961-15566_961-15546delTTTTTTTTTTTTTTTTTTTTT	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE3A_chr12_20363537_20693583	20574558	CTTATTTA others(14): Show CTTATTTAGATGATAGCTTTCA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01243.hp1 others(1): Show HG01167.hp1 HG01169.hp2 HG01243.hp1 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0136 a0002c0002t0137 a0002c0005t0013 a0002c0002t0136 a0002c0002t0137 a0002c0005t0013	a0002c0002t0136g0010 a0002c0002t0137g0051 a0002c0005t0013g0143 others(1): Show a0002c0002t0136g0010 a0002c0002t0137g0051 a0002c0005t0013g0143 a0002c0005t0013g0144	4	196	0.0204	-21	c.101 others(42): Show c.1011+17850_1011+17870delTATTTAGATGATAGCTTTCAT	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE6A_chr5_149852953_149949793	149923505	TAACATAA others(14): Show TAACATAACATAACATAACATA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0046 a0001c0006t0007g0046	1	326	0.0031	-21	c.859 others(38): Show c.859-1817_859-1797delTATGTTATGTTATGTTATGTT	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6B_chr4_620573_675782	630215	AGGCCGAG others(14): Show AGGCCGAGGGATCCATCCCTGT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0046 a0001c0001t0011g0046	1	306	0.0033	-21	c.468 others(38): Show c.468+4131_468+4151delATCCATCCCTGTGGCCGAGGG	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6C_chr10_93607537_93671010	93654790	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0022 a0001c0005t0001g0022	1	382	0.0026	-21	c.193 others(38): Show c.1936-966_1936-946delCTTTCTTTCTTTCTTTCTTTT	PDE6C	ENSG00000095464.10	transcript	ENST00000371447.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDE7B_chr6_135846701_136200574	135935166	AGAATTTT others(14): Show AGAATTTTATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03453.hp1 HG02886.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0004 a0001c0001t0002 a0001c0002t0004	a0001c0001t0002g0092 a0001c0002t0004g0009 a0001c0001t0002g0092 a0001c0002t0004g0009	2	137	0.0146	-21	c.22- others(38): Show c.22-12297_22-12277delGAATTTTATATATATATATTT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12			chr6	TogoVar
PDGFB_chr22_39218359_39249982	39247876	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG03669.hp2 HG04228.hp2 HG01256.hp1 HG03669.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0001g0002 a0001c0001t0002g0199 a0001c0001t0002g0201	3	342	0.0088	-21	c.-39 others(32): Show c.-3934_-3914delATATATATTTTTTTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2895		chr22	TogoVar
PDGFB_chr22_39218359_39249982	39247880	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG03486.hp2 HG01884.hp1 HG01891.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0002c0004t0041 a0001c0001t0002 a0001c0001t0003 a0002c0004t0041	a0001c0001t0002g0204 a0001c0001t0003g0005 a0002c0004t0041g0197 a0001c0001t0002g0204 a0001c0001t0003g0005 a0002c0004t0041g0197	3	354	0.0085	-21	c.-39 others(32): Show c.-3938_-3918delATATATATATATTTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2899		chr22	TogoVar
PDGFB_chr22_39218359_39249982	39247884	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	382	0.0026	-21	c.-39 others(32): Show c.-3942_-3922delATATATATATATATATTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2903		chr22	TogoVar
PDGFC_chr4_156755454_156976799	156825551	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG04228.hp2 HG02155.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0077 a0001c0002t0005g0070 a0001c0002t0002g0077 a0001c0002t0005g0070	2	166	0.0120	-21	c.315 others(40): Show c.315-14555_315-14535delATTATTATTATTATTATTATT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFRL_chr8_17572216_17648144	17638765	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19240.hp2 HG02976.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0385 a0001c0001t0001g0022 a0001c0001t0001g0385	2	398	0.0050	-21	c.940 others(38): Show c.940-3847_940-3827delTATATATATATATATATATAT	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5			chr8	TogoVar
PDLIM1_chr10_95232572_95296003	95256985	AAAAAGAA others(14): Show AAAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp1 HG01069.hp1 others(5): Show HG00323.hp1 HG00741.hp1 HG01069.hp1 HG01081.hp1 HG01175.hp2 HG01361.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0007 a0001c0001t0004g0019 others(3): Show a0001c0001t0004g0002 a0001c0001t0004g0007 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0062	8	290	0.0276	-21	c.533 others(38): Show c.533+6858_533+6878delCTTTCTTTCTTTCTTTCTTTT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDP2_chr16_66875515_66896101	66893524	TATATATA others(14): Show TATATATATATATATATATATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG03486.hp1 HG01255.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0016 a0001c0001t0007 a0001c0001t0016	a0001c0001t0007g0002 a0001c0001t0016g0002 a0001c0001t0007g0002 a0001c0001t0016g0002	2	350	0.0057	-21	c.76 others(32): Show c.7651_*7671delATATATATATATATATATATG	PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding		2424		chr16	TogoVar
PDP2_chr16_66875515_66896101	66893526	TATATATA others(14): Show TATATATATATATATATATGTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01070.hp2 HG02055.hp2 others(4): Show HG00558.hp2 HG01070.hp2 HG02055.hp2 HG03041.hp1 NA18906.hp1 NA19081.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0052 a0001c0001t0053 others(1): Show a0001c0001t0007 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054	a0001c0001t0007g0002 a0001c0001t0007g0023 a0001c0001t0052g0002 others(2): Show a0001c0001t0007g0002 a0001c0001t0007g0023 a0001c0001t0052g0002 a0001c0001t0053g0002 a0001c0001t0054g0011	7	350	0.0200	-21	c.76 others(32): Show c.7653_*7673delATATATATATATATATATGTA	PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding		2426		chr16	TogoVar
PDP2_chr16_66875515_66896101	66893528	TATATATA others(14): Show TATATATATATATATATGTATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02886.hp2 HG03041.hp2 others(1): Show HG02630.hp1 HG02886.hp2 HG03041.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0002 a0001c0001t0009g0002	4	353	0.0113	-21	c.76 others(32): Show c.7655_*7675delATATATATATATATATGTATA	PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding		2428		chr16	TogoVar

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