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
PLEKHM3_chr2_207816288_208030527	208024142	C C	CAAAATAA others(18): Show CAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03579.hp2 HG02486.hp1 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0055 a0001c0003t0056 a0001c0003t0055 a0001c0003t0056	a0001c0003t0055g0192 a0001c0003t0056g0191 a0001c0003t0055g0192 a0001c0003t0056g0191	2	62	0.0323	25	c.-31 others(44): Show c.-319+1222_-319+1246dupATTTTATTTTATTTTATTTTATTTT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	1/7			chr2	TogoVar
PLEKHO2_chr15_64836915_64873002	64871410	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG03130.hp2 HG03453.hp2 HG02818.hp1 HG03130.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0013 a0001c0001t0006g0014	3	316	0.0095	25	c.55 others(36): Show c.5522_*5523insATATATATATATATATATATATATA	PLEKHO2	ENSG00000241839.10	transcript	ENST00000323544.5	protein_coding		3409		chr15	TogoVar
PLET1_chr11_112243153_112265860	112261449	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 NA18999.hp2 NA19001.hp2 others(1): Show HG01496.hp1 NA18999.hp2 NA19001.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0102 a0001c0001t0001g0148 a0001c0001t0001g0007 a0001c0001t0001g0102 a0001c0001t0001g0148	4	96	0.0417	25	c.-86 others(34): Show c.-861_-860insCACACACACACACACACACACACAC	PLET1	ENSG00000188771.5	transcript	ENST00000338832.4	protein_coding		590		chr11	TogoVar
PLGLB1_chr2_87005224_87026844	87025338	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0052 a0001c0002t0015g0052	1	90	0.0111	25	c.-35 others(36): Show c.-3556_-3555insTTTTTTTTTTTTTTTTTTTTTTTTT	PLGLB1	ENSG00000183281.15	transcript	ENST00000355705.4	protein_coding		3495		chr2	TogoVar
PLGRKT_chr9_5352971_5442925	5371986	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	76	0.0132	25	c.82- others(42): Show c.82-10099_82-10098insAAAAAAAAAAAAAAAAAAAAAAAAA	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	3/5			chr9	TogoVar
PLIN4_chr19_4497192_4523486	4509310	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01361.hp1 HG01361.hp2 others(16): Show HG01074.hp2 HG01361.hp1 HG01361.hp2 HG01952.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02258.hp2 HG02738.hp2 HG02895.hp1 HG03130.hp2 HG04115.hp2 HG04184.hp2 NA18940.hp1 NA18940.hp2 NA18999.hp2 NA19003.hp2 NA19082.hp1 NA20752.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0007 a0010 a0025 a0047	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0016 a0002c0010 a0002c0050 a0005c0019 a0007c0018 a0010c0024 a0010c0031 a0025c0099 a0047c0085	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0004t0011 a0001c0004t0016 a0001c0016t0002 a0002c0010t0007 a0002c0050t0007 a0005c0019t0006 a0007c0018t0001 a0010c0024t0015 a0010c0031t0003 a0025c0099t0002 a0047c0085t0007	a0001c0001t0002g0183 a0001c0001t0003g0045 a0001c0001t0003g0052 others(14): Show a0001c0001t0002g0183 a0001c0001t0003g0045 a0001c0001t0003g0052 a0001c0001t0003g0249 a0001c0002t0001g0137 a0001c0002t0001g0215 a0001c0004t0011g0107 a0001c0004t0016g0055 a0001c0016t0002g0225 a0002c0010t0007g0092 a0002c0050t0007g0084 a0005c0019t0006g0070 a0007c0018t0001g0237 a0010c0024t0015g0133 a0010c0031t0003g0163 a0025c0099t0002g0241 a0047c0085t0007g0095	19	74	0.2568	25	c.351 others(42): Show c.3515-356_3515-355insTTTTTTTTTTTTTTTTTTTTTTTTT	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/7			chr19	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	125	0.0080	25	c.-24 others(36): Show c.-2481_-2480insAAAAAAAAAAAATATATATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLOD1_chr1_11929717_11980537	11941467	G G	GATTATTA others(18): Show GATTATTATTTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02970.hp2 HG03516.hp1 HG01109.hp2 HG02970.hp2 HG03516.hp1	a0002 a0005 a0002 a0005	a0002c0014 a0005c0023 a0002c0014 a0005c0023	a0002c0014t0004 a0005c0023t0002 a0002c0014t0004 a0005c0023t0002	a0002c0014t0004g0295 a0002c0014t0004g0296 a0005c0023t0002g0324 a0002c0014t0004g0295 a0002c0014t0004g0296 a0005c0023t0002g0324	3	262	0.0115	25	c.77- others(40): Show c.77-6500_77-6499insTATTATTATTATTATTATTATTATT	PLOD1	ENSG00000083444.17	transcript	ENST00000196061.5	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLOD1_chr1_11929717_11980537	11967615	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0129	1	374	0.0027	25	c.175 others(42): Show c.1755+524_1755+525insTATATATATATATATATATATATAT	PLOD1	ENSG00000083444.17	transcript	ENST00000196061.5	protein_coding	16/18			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56555433	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0125 a0001c0001t0003g0125	1	107	0.0093	25	c.140 others(44): Show c.140-18346_140-18322dupTTTTTTTTTTTTTTTTTTTTTTTTT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557006	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAGGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	328	0.0030	25	c.140 others(44): Show c.140-19895_140-19894insTCTTTCTTTCCTTCTTTCTTTCTTT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPPR1_chr9_101023727_101330135	101267730	T T	TGGCTCAT others(18): Show TGGCTCATGCCTGTATAATCCTAGCA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0098 a0001c0001t0019g0098	1	202	0.0050	25	c.64- others(40): Show c.64-2149_64-2125dupGGCTCATGCCTGTATAATCCTAGCA	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR1_chr9_101023727_101330135	101316616	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03453.hp1 HG03139.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0042 a0001c0001t0004g0074 a0001c0001t0002g0042 a0001c0001t0004g0074	2	105	0.0190	25	c.814 others(40): Show c.814-737_814-736insAAAAAAAAAAAAAAAAAAAAAAAAA	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR5_chr1_98885245_99009861	98909237	T T	TTCCCTCC others(18): Show TTCCCTCCCTTCCCCTCCCTTCCCCC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0029 a0001c0001t0005g0029	1	278	0.0036	25	c.933 others(42): Show c.933+5524_933+5548dupGGGGGAAGGGAGGGGAAGGGAGGGA	PLPPR5	ENSG00000117598.14	transcript	ENST00000263177.5	protein_coding	5/5			chr1	TogoVar
PLPPR5_chr1_98885245_99009861	98920593	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02723.hp2 HG03139.hp2 others(2): Show HG02145.hp1 HG02723.hp2 HG03139.hp2 NA18990.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0029 a0001c0001t0032 others(1): Show a0001c0001t0016 a0001c0001t0029 a0001c0001t0032 a0001c0001t0052	a0001c0001t0016g0221 a0001c0001t0016g0223 a0001c0001t0029g0096 others(2): Show a0001c0001t0016g0221 a0001c0001t0016g0223 a0001c0001t0029g0096 a0001c0001t0032g0215 a0001c0001t0052g0233	5	88	0.0568	25	c.798 others(42): Show c.798+1288_798+1289insTTTTTTTTTTTTTTTTTTTTTTTTT	PLPPR5	ENSG00000117598.14	transcript	ENST00000263177.5	protein_coding	4/5			chr1	TogoVar
PLRG1_chr4_154530005_154555400	154533394	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0017 a0001c0003t0011g0017	1	226	0.0044	25	c.32 others(36): Show c.3290_*3291insATATATATATATATATTTTTTTTTT	PLRG1	ENSG00000171566.12	transcript	ENST00000499023.7	protein_coding		1610		chr4	TogoVar
PLS3_chrX_115556174_115655861	115651988	A A	ATCTCTAC others(18): Show ATCTCTACCAACATGGTGAATCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01099.hp1 HG01167.hp1 others(7): Show HG01074.hp1 HG01099.hp1 HG01167.hp1 HG01169.hp2 HG02886.hp1 HG03486.hp1 HG03516.hp2 NA18522.hp1 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0001 a0001c0003t0003	a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0003t0001g0015 others(7): Show a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0023 a0001c0003t0001g0119 a0001c0003t0001g0155 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0024	10	252	0.0397	25	c.24 others(36): Show c.2427_*2428insTCTCTACCAACATGGTGAATCCCCC	PLS3	ENSG00000102024.19	transcript	ENST00000355899.8	protein_coding		1128		chrX	TogoVar
PLVAP_chr19_17346455_17382342	17382272	A A	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0406 a0001c0001t0001g0406	1	405	0.0025	25	c.-49 others(36): Show c.-4985_-4984insCTTTCTTTCTTTCTTTCTTTCTTTC	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4931		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382276	A A	AAGAAAGA others(18): Show AAGAAAGAAAGAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0393 a0001c0001t0001g0393	1	164	0.0061	25	c.-49 others(36): Show c.-4989_-4988insCTTTCTTTCTTTCTTCTTTCTTTCT	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4935		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382276	A A	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01070.hp2 HG01081.hp1 others(5): Show HG00741.hp1 HG01070.hp2 HG01081.hp1 HG01975.hp1 HG02129.hp2 HG02258.hp2 HG02683.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0250 a0001c0001t0001g0290 others(5): Show a0001c0001t0001g0015 a0001c0001t0001g0250 a0001c0001t0001g0290 a0001c0001t0001g0303 a0001c0001t0001g0355 a0001c0001t0001g0379 a0001c0001t0001g0400 a0001c0001t0001g0410	8	171	0.0468	25	c.-49 others(36): Show c.-4989_-4988insCTTTCTTTCTTTCTTTCTTTCTTTC	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4935		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382280	A A	AAAAAGAA others(18): Show AAAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG02897.hp2 HG02572.hp2 HG02630.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0074 a0001c0001t0002g0097 a0001c0001t0002g0008 a0001c0001t0002g0074 a0001c0001t0002g0097	3	49	0.0612	25	c.-49 others(36): Show c.-4993_-4992insCTTTCTTTCTTTCTTTCTTTCTTTT	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4939		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382280	A A	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18951.hp1 NA18995.hp2 NA18940.hp1 NA18951.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0003g0261 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0003g0261	3	49	0.0612	25	c.-49 others(36): Show c.-4993_-4992insCTTTCTTTCTTTCTTTCTTTCTTTC	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4939		chr19	TogoVar
PLXDC1_chr17_39058313_39156637	39086280	T T	TCTAAAGT others(18): Show TCTAAAGTGTCCCAGCCCTGTGACCC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0112 a0002c0003t0006g0112	1	316	0.0032	25	c.907 others(42): Show c.907+1302_907+1326dupGGGTCACAGGGCTGGGACACTTTAG	PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	8/13			chr17	TogoVar
PLXDC2_chr10_19811432_20294856	19883884	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02965.hp1 HG03041.hp1 others(1): Show HG02109.hp2 HG02965.hp1 HG03041.hp1 HG03688.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0028 a0002c0002t0019 a0002c0002t0026 others(1): Show a0001c0001t0028 a0002c0002t0019 a0002c0002t0026 a0002c0002t0049	a0001c0001t0028g0159 a0002c0002t0019g0108 a0002c0002t0026g0157 others(1): Show a0001c0001t0028g0159 a0002c0002t0019g0108 a0002c0002t0026g0157 a0002c0002t0049g0069	4	18	0.2222	25	c.112 others(44): Show c.112+66696_112+66720dupTTTTTTTTTTTTTTTTTTTTTTTTT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNA2_chr1_208017242_208249384	208209983	A A	AATTTTTT others(18): Show AATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02818.hp2 HG02970.hp1 others(4): Show HG01081.hp1 HG02818.hp2 HG02970.hp1 NA18960.hp2 NA18970.hp2 NA19090.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0018 others(2): Show a0001c0001 a0001c0004 a0001c0018 a0001c0022 a0003c0005	a0001c0001t0006 a0001c0001t0015 a0001c0004t0011 others(3): Show a0001c0001t0006 a0001c0001t0015 a0001c0004t0011 a0001c0018t0003 a0001c0022t0025 a0003c0005t0093	a0001c0001t0006g0169 a0001c0001t0015g0005 a0001c0001t0015g0025 others(4): Show a0001c0001t0006g0169 a0001c0001t0015g0005 a0001c0001t0015g0025 a0001c0004t0011g0013 a0001c0018t0003g0124 a0001c0022t0025g0106 a0003c0005t0093g0270	7	63	0.1111	25	c.137 others(42): Show c.1371+296_1371+297insAAAAAAAAAAAAAAAAAAAAAAAAT	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	3/31			chr1	TogoVar
PLXNA4_chr7_132118340_132581470	132124055	T T	TCCTTCCC others(18): Show TCCTTCCCACCTCAGGGCCTGGAGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0015 a0001c0003t0018g0015	1	86	0.0116	25	c.63 others(36): Show c.6399_*6423dupGCCTCCAGGCCCTGAGGTGGGAAGG	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	32/32	6423		chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132132380	T T	TTGTTCTG others(18): Show TTGTTCTGTTCTGTTCTGTTCTGTTC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0068 a0001c0002t0012g0068	1	49	0.0204	25	c.558 others(42): Show c.5589+644_5589+668dupGAACAGAACAGAACAGAACAGAACA	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	31/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132151374	G G	GAGGAGGA others(18): Show GAGGAGGAGGAGGAGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0042 a0001c0033t0001g0042	1	85	0.0118	25	c.466 others(44): Show c.4661-2729_4661-2728insTCCTCCTCCTCCTCCTCCTCCTCCT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	25/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132513660	T T	TTTTTGTT others(18): Show TTTTTGTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03486.hp2 HG01257.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0012 a0001c0002t0004 a0001c0002t0012	a0001c0002t0004g0025 a0001c0002t0012g0068 a0001c0002t0004g0025 a0001c0002t0012g0068	2	57	0.0351	25	c.-86 others(42): Show c.-86-4906_-86-4882dupCAAAACAAAACAAAACAAAACAAAA	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	1/31			chr7	TogoVar
PLXNB2_chr22_50269979_50312646	50307773	G G	GGAGGGGA others(18): Show GGAGGGGAGGGGGAGGGGAGGGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02486.hp1 others(5): Show HG01891.hp1 HG02055.hp1 HG02486.hp1 HG02895.hp1 HG03540.hp2 HG06807.hp2 NA18906.hp1 NA20300.hp2	a0002 a0002	a0002c0010 a0002c0013 a0002c0010 a0002c0013	a0002c0010t0003 a0002c0013t0003 a0002c0010t0003 a0002c0013t0003	a0002c0010t0003g0243 a0002c0010t0003g0244 a0002c0010t0003g0245 others(5): Show a0002c0010t0003g0243 a0002c0010t0003g0244 a0002c0010t0003g0245 a0002c0010t0003g0246 a0002c0010t0003g0247 a0002c0013t0003g0228 a0002c0013t0003g0230 a0002c0013t0003g0248	8	109	0.0734	25	c.-29 others(34): Show c.-295_-294insTTCCCCCTCCCCTCCCCCTCCCCTC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		128		chr22	TogoVar
PLXNC1_chr12_94143577_94312675	94268588	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0210 a0001c0009t0001g0210	1	151	0.0066	25	c.359 others(44): Show c.3597+3387_3597+3388insTTTTTTTTTTTTTTTTTTTTTTTTT	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PM20D2_chr6_89141055_89170565	89141977	A A	ATTTATTT others(18): Show ATTTATTTTATTTTATTTTATTTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0008 a0001c0001t0016g0008	1	246	0.0041	25	c.-41 others(36): Show c.-4168_-4167insTTTATTTTATTTTATTTTATTTTAT	PM20D2	ENSG00000146281.6	transcript	ENST00000275072.5	protein_coding		4077		chr6	TogoVar
PMM2_chr16_8792839_8854325	8827882	A A	AATATATG others(18): Show AATATATGATATATTATATATATGTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02895.hp1 HG02809.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0024 a0001c0001t0017g0025 a0001c0001t0017g0024 a0001c0001t0017g0025	2	299	0.0067	25	c.639 others(44): Show c.639+14789_639+14790insTATATATATGTTATATATGATATAT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
PMM2_chr16_8792839_8854325	8851977	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01099.hp2 NA18952.hp2 others(1): Show HG01070.hp2 HG01099.hp2 NA18952.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0002 a0001c0001t0002 a0001c0007t0002	a0001c0001t0002g0013 a0001c0001t0002g0275 a0001c0001t0002g0280 others(1): Show a0001c0001t0002g0013 a0001c0001t0002g0275 a0001c0001t0002g0280 a0001c0007t0002g0292	4	66	0.0606	25	c.41 others(36): Show c.4152_*4153insTTTTTTTTTTTTTTTTTTTTTTTTT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding		2653		chr16	TogoVar
PMS1_chr2_189779450_189882629	189864657	G G	GAAAAAAA others(18): Show GAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	186	0.0054	25	c.234 others(42): Show c.2342+436_2342+460dupAAAAAAAAAAAAAAAAAAAAAAAAA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0093 a0002c0004t0001g0093	1	45	0.0222	25	c.-95 others(34): Show c.-956_-955insATATATATATATATATTTTTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAATATAC others(18): Show AAATATACATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0363 a0001c0003t0013g0363	1	45	0.0222	25	c.-95 others(34): Show c.-956_-955insATATATATATATATATATGTATATT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0067 a0002c0004t0001g0067	1	45	0.0222	25	c.-95 others(34): Show c.-956_-955insATATATATATATATATATATATATT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PNISR_chr6_99393050_99430308	99419152	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	315	0.0032	25	c.-11 others(44): Show c.-111-2749_-111-2725dupTTTTTTTTTTTTTTTTTTTTTTTTT	PNISR	ENSG00000132424.17	transcript	ENST00000369239.10	protein_coding	1/11			chr6	TogoVar
PNLIPRP1_chr10_116585959_116614175	116599256	G G	GAAAATAA others(18): Show GAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00733.hp2 HG01070.hp2 others(73): Show HG00609.hp2 HG00733.hp2 HG01070.hp2 HG01081.hp1 HG01168.hp1 HG01175.hp2 HG01358.hp1 HG01928.hp1 HG02109.hp1 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02486.hp1 HG02602.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp2 HG03017.hp2 HG03139.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp2 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18991.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19054.hp1 NA19055.hp2 NA19059.hp1 NA19067.hp2 NA19068.hp1 NA19076.hp2 NA19077.hp1 NA19080.hp2 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA20905.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0004c0005 a0005c0018	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0004c0005t0001 a0005c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0050 others(40): Show a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0068 a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0211 a0001c0002t0001g0010 a0001c0002t0001g0027 a0001c0002t0001g0055 a0001c0002t0001g0067 a0001c0002t0001g0075 a0001c0002t0001g0095 a0001c0002t0001g0102 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0132 a0002c0003t0001g0165 a0004c0005t0001g0001 a0004c0005t0001g0012 a0004c0005t0001g0026 a0004c0005t0001g0098 a0004c0005t0001g0099 a0004c0005t0001g0145 a0004c0005t0001g0147 a0005c0018t0001g0115	76	137	0.5547	25	c.815 others(40): Show c.815-771_815-747dupTAAAATAAAATAAAATAAAATAAAA	PNLIPRP1	ENSG00000187021.15	transcript	ENST00000358834.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PNMA8A_chr19_46461503_46476563	46475170	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG02080.hp2 HG02135.hp1 others(7): Show HG00673.hp1 HG02080.hp2 HG02135.hp1 HG02683.hp1 HG03831.hp2 HG04184.hp2 NA18973.hp1 NA18998.hp2 NA19058.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0003 a0001c0002t0029 a0001c0007t0003 a0001c0002t0003 a0001c0002t0029 a0001c0007t0003	a0001c0002t0003g0002 a0001c0002t0029g0037 a0001c0007t0003g0022 a0001c0002t0003g0002 a0001c0002t0029g0037 a0001c0007t0003g0022	10	33	0.3030	25	c.-39 others(36): Show c.-3914_-3913insTTTTTTTTTTTTTTTTTTTTTTTTT	PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding		3608		chr19	TogoVar
PNOC_chr8_28312268_28348351	28330362	C C	CTTTATTT others(18): Show CTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02145.hp2 HG00733.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0215 a0001c0001t0001g0183 a0001c0001t0001g0215	2	371	0.0054	25	c.126 others(42): Show c.126+1093_126+1117dupATTTTATTTTATTTTATTTTATTTT	PNOC	ENSG00000168081.9	transcript	ENST00000301908.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
PNOC_chr8_28312268_28348351	28330396	A A	ATTTTATT others(18): Show ATTTTATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	233	0.0043	25	c.126 others(42): Show c.126+1117_126+1118insATTTTTTTTTTTTTTTTTTTTTTTT	PNOC	ENSG00000168081.9	transcript	ENST00000301908.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
PNPLA1_chr6_36265060_36318955	36282081	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0361 a0003c0004t0001g0361	1	384	0.0026	25	c.206 others(42): Show c.206-9229_206-9228insAGAAAGAAAGAAAGAAAAGAAAGAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282088	A A	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0242 a0004c0006t0004g0242	1	287	0.0035	25	c.206 others(42): Show c.206-9229_206-9228insAGAAAGAAAGAAAGAAAGGAAGGAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA7_chr9_137454952_137555402	137478387	A A	AAGAGAGT others(18): Show AAGAGAGTGGGCCCGGGTGGGGGGCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02897.hp1 others(3): Show HG02630.hp2 HG02647.hp1 HG02897.hp1 HG03209.hp1 HG03540.hp1 HG03540.hp2	a0005 a0028 a0005 a0028	a0005c0007 a0005c0053 a0028c0052 a0005c0007 a0005c0053 a0028c0052	a0005c0007t0001 a0005c0053t0001 a0028c0052t0001 a0005c0007t0001 a0005c0053t0001 a0028c0052t0001	a0005c0007t0001g0018 a0005c0007t0001g0019 a0005c0007t0001g0181 others(3): Show a0005c0007t0001g0018 a0005c0007t0001g0019 a0005c0007t0001g0181 a0005c0007t0001g0182 a0005c0053t0001g0132 a0028c0052t0001g0154	6	186	0.0323	25	c.276 others(42): Show c.2764-260_2764-236dupGGCCCCCCACCCGGGCCCACTCTCT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	24/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137503789	A A	AAAAGAAG others(18): Show AAAAGAAGAGAGAAGAAGAAAGAAAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01071.hp2 HG01243.hp2 others(6): Show HG00642.hp2 HG01071.hp2 HG01243.hp2 HG01496.hp1 HG02717.hp1 HG02723.hp1 HG03579.hp1 NA18943.hp2 NA18952.hp2	a0001 a0008 a0013 others(2): Show a0001 a0008 a0013 a0031 a0032	a0001c0001 a0001c0002 a0008c0010 others(3): Show a0001c0001 a0001c0002 a0008c0010 a0013c0016 a0031c0059 a0032c0042	a0001c0001t0001 a0001c0002t0001 a0008c0010t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0008c0010t0001 a0013c0016t0003 a0031c0059t0001 a0032c0042t0001	a0001c0001t0001g0056 a0001c0001t0001g0118 a0001c0002t0001g0043 others(6): Show a0001c0001t0001g0056 a0001c0001t0001g0118 a0001c0002t0001g0043 a0001c0002t0001g0090 a0001c0002t0001g0111 a0008c0010t0001g0057 a0013c0016t0003g0064 a0031c0059t0001g0092 a0032c0042t0001g0036	9	183	0.0492	25	c.147 others(44): Show c.1473+1824_1473+1825insATTTCTTTCTTCTTCTCTCTTCTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137503789	A A	AAAAGAAG others(18): Show AAAAGAAGAGAGAAGAAGAAAGAACT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0183 a0001c0035t0001g0183	1	175	0.0057	25	c.147 others(44): Show c.1473+1824_1473+1825insAGTTCTTTCTTCTTCTCTCTTCTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137518500	G G	GTCCACTC others(18): Show GTCCACTCCATCCCCCACTCACTGAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0033 a0033	a0033c0058 a0033c0058	a0033c0058t0001 a0033c0058t0001	a0033c0058t0001g0075 a0033c0058t0001g0075	1	186	0.0054	25	c.108 others(44): Show c.1084+1416_1084+1417insGTCAGTGAGTGGGGGATGGAGTGGA	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137518535	T T	TCACTCCA others(18): Show TCACTCCATCCCCCACTCACTGACTC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02683.hp1 HG03017.hp2 others(2): Show HG01261.hp1 HG02683.hp1 HG03017.hp2 HG03041.hp2 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0037 a0001c0002 a0001c0011 a0001c0037	a0001c0002t0001 a0001c0011t0001 a0001c0037t0001 a0001c0002t0001 a0001c0011t0001 a0001c0037t0001	a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0011t0001g0008 others(2): Show a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0011t0001g0008 a0001c0011t0001g0035 a0001c0037t0001g0007	5	183	0.0273	25	c.108 others(44): Show c.1084+1381_1084+1382insGAGTCAGTGAGTGGGGGATGGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar

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