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
PLAAT3_chr11_63569462_63619433	63615017	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATGTATATATGTATATATATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp2 NA18970.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0308 a0001c0001t0001g0016 a0001c0001t0001g0308	2	337	0.0059	49	c.-68 others(58): Show c.-688_-687insACATATATATACATATATACATATATATATATATAT ATATATATATATA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		585		chr11	TogoVar
PLCB1_chr20_8127266_8889900	8278258	A A	ATATATAA others(42): Show ATATATAAATATATTATATAAATATATATTTATATAATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp2 HG03130.hp1 others(2): Show HG02258.hp1 HG02615.hp2 HG03130.hp1 HG03579.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0011 a0001c0002 a0001c0005 a0001c0011	a0001c0002t0003 a0001c0002t0004 a0001c0005t0011 others(1): Show a0001c0002t0003 a0001c0002t0004 a0001c0005t0011 a0001c0011t0006	a0001c0002t0003g0023 a0001c0002t0003g0079 a0001c0002t0004g0026 others(2): Show a0001c0002t0003g0023 a0001c0002t0003g0079 a0001c0002t0004g0026 a0001c0005t0011g0068 a0001c0011t0006g0051	5	106	0.0472	49	c.178 others(68): Show c.178-93080_178-93079insTATATTATATAAATATATTATATAAA TATATATTTATATAATATATAAA	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	2/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8285014	G G	GTATTTTT others(42): Show GTATTTTTATTTCTCAGTGTTATGTTAGCCTACCCTGTTCTTGTTTTGTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0106 a0001c0023t0003g0106	1	106	0.0094	49	c.178 others(68): Show c.178-86366_178-86318dupATTTTTATTTCTCAGTGTTATGTTAG CCTACCCTGTTCTTGTTTTGTTT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	2/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCG2_chr16_81774291_81967685	81776079	C C	CTCGTTCT others(42): Show CTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 NA18999.hp2 HG02074.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0281 a0001c0001t0004g0321 a0001c0001t0004g0281 a0001c0001t0004g0321	2	78	0.0256	49	c.-33 others(60): Show c.-3393_-3392insTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTTTTT	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding		3211		chr16	TogoVar
PLCL1_chr2_197799593_198154863	197922759	G G	GGCTGGCC others(42): Show GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGATGGGGCA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0137 a0001c0003t0002g0137	1	204	0.0049	49	c.240 others(70): Show c.240+117431_240+117432insGGGGGGCTGACCCCCCCACCTCCC TCCCAGATGGGGCAGCTGGCCGGGC	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCL2_chr3_16879955_17095604	17035281	A A	ATAACTGT others(42): Show ATAACTGTGGGGTGTGTAACATGTTTACTTGTAAACTGTAAAGCACTCTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02965.hp2 HG02055.hp1 HG02109.hp1 HG02965.hp2	a0001 a0001	a0001c0010 a0001c0011 a0001c0012 a0001c0010 a0001c0011 a0001c0012	a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001	a0001c0010t0001g0004 a0001c0011t0001g0003 a0001c0012t0001g0198 a0001c0010t0001g0004 a0001c0011t0001g0003 a0001c0012t0001g0198	3	248	0.0121	49	c.301 others(68): Show c.3019-7566_3019-7518dupCTTGTAAACTGTAAAGCACTCTGTAA CTGTGGGGTGTGTAACATGTTTA	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCXD1_chrX_276381_308356	280777	G G	GGGGAGGC others(42): Show GGGGAGGCCGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0071 a0001c0001t0036g0071	1	149	0.0067	49	c.-92 others(58): Show c.-929_-928insGGGAGGCCGGGGGTACGTGCAGGGGGCAGCGGAGGC CGTGCAGGGGGAA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		603		chrX	TogoVar
PLCXD1_chrX_276381_308356	296880	T T	TCCCACAT others(42): Show TCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02257.hp2 HG02976.hp1 others(3): Show HG01123.hp2 HG02257.hp2 HG02976.hp1 HG03516.hp2 NA18964.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0013 a0001c0001t0029 a0001c0001t0052 others(2): Show a0001c0001t0013 a0001c0001t0029 a0001c0001t0052 a0001c0003t0015 a0001c0003t0055	a0001c0001t0013g0010 a0001c0001t0013g0154 a0001c0001t0029g0059 others(3): Show a0001c0001t0013g0010 a0001c0001t0013g0154 a0001c0001t0029g0059 a0001c0001t0052g0072 a0001c0003t0015g0009 a0001c0003t0055g0007	6	174	0.0345	49	c.734 others(66): Show c.734-2182_734-2181insACATTATTCTGTCCCCCACATGGGGATT AGGACGTGGACATCTTTGGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	296931	T T	TCACATGG others(42): Show TCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0087 a0001c0002t0087	a0001c0002t0087g0147 a0001c0002t0087g0147	1	82	0.0122	49	c.734 others(66): Show c.734-2119_734-2118insCCCACATGGGGATTAGGACGTGGACATC TTTGGGGACATTATTCTGTCT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	297225	T T	TCACATGG others(42): Show TCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCCCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0154 a0001c0001t0013g0154	1	147	0.0068	49	c.734 others(66): Show c.734-1839_734-1838insCCATTATTCTGTCCCCCACATGGGGATT AGGACGTGGACATCTTTGGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	297421	C C	CCACATGG others(42): Show CCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG02615.hp1 others(6): Show HG01891.hp1 HG02280.hp1 HG02615.hp1 HG02630.hp1 HG02922.hp2 HG03195.hp2 HG03486.hp2 NA18906.hp1 NA18906.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0001c0010 a0005c0015 a0001c0003 a0001c0010 a0005c0015	a0001c0003t0006 a0001c0003t0053 a0001c0003t0054 others(4): Show a0001c0003t0006 a0001c0003t0053 a0001c0003t0054 a0001c0003t0056 a0001c0003t0098 a0001c0010t0041 a0005c0015t0006	a0001c0003t0006g0038 a0001c0003t0006g0039 a0001c0003t0006g0120 others(6): Show a0001c0003t0006g0038 a0001c0003t0006g0039 a0001c0003t0006g0120 a0001c0003t0053g0105 a0001c0003t0054g0085 a0001c0003t0056g0086 a0001c0003t0098g0087 a0001c0010t0041g0167 a0005c0015t0006g0078	9	164	0.0549	49	c.734 others(66): Show c.734-1629_734-1628insATCACATGGGGATTAGGACGTGGACATC TTTGGGGACATTATTCTGTCT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	297457	A A	ATTATTCT others(42): Show ATTATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGCTG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0103 a0001c0002t0103	a0001c0002t0103g0141 a0001c0002t0103g0141	1	173	0.0058	49	c.734 others(66): Show c.734-1593_734-1545dupCTGTTATTCTGTCTCCCACATGGGGATT AGGACGTGGACATCTTTGGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	297570	A A	ACATTGGG others(42): Show ACATTGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGTCTACCT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0098 a0001c0003t0098	a0001c0003t0098g0087 a0001c0003t0098g0087	1	174	0.0057	49	c.734 others(66): Show c.734-1524_734-1523insTGGGATTAGGACGTGGACATCTTTGGGG CCATTATCCTGTCTACCTCAT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	297602	C C	CCATTATT others(42): Show CCATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19009.hp1 HG02257.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0029 a0001c0003t0055 a0001c0001t0029 a0001c0003t0055	a0001c0001t0029g0059 a0001c0003t0055g0007 a0001c0001t0029g0059 a0001c0003t0055g0007	2	152	0.0132	49	c.734 others(66): Show c.734-1495_734-1494insCATTATTCTGTCTATCACATGGGGATTA GGACGTGGACATCTTTGGGGA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6			chrX	TogoVar
PLCXD1_chrX_276381_308356	297749	C C	CCATTATT others(42): Show CCATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0154 a0001c0001t0013g0154	1	146	0.0068	49	c.734 others(66): Show c.734-1348_734-1347insCATTATTCTGTCTATCACATGGGGATTA GGACGTGGACATCTTTGGGGA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6			chrX	TogoVar
PLCXD1_chrX_276381_308356	297766	A A	ACATGGGA others(42): Show ACATGGGAATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTACCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0101 a0001c0003t0101	a0001c0003t0101g0109 a0001c0003t0101g0109	1	172	0.0058	49	c.734 others(66): Show c.734-1325_734-1324insAATTAGGACGTGGACATCTTTGGGGCCA TTATTCTGTCTACCTCATGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	297813	T T	TCACATGG others(42): Show TCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0140 a0001c0002t0004g0140	1	167	0.0060	49	c.734 others(66): Show c.734-1237_734-1236insCCCACATGGGGATTAGGACGTGGACATC TTTGGGGACATTATTCTGTCT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298043	A A	ACATTATT others(42): Show ACATTATTCTGTCTACCTCATGGGGATTAGGACGTGGACATCTTTGGGGC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0154 a0001c0001t0013g0154	1	156	0.0064	49	c.734 others(66): Show c.734-1040_734-1039insCCTCATGGGGATTAGGACGTGGACATCT TTGGGGCCATTATTCTGTCTA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298060	A A	ACATGGGA others(42): Show ACATGGGAATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTACCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0100 a0002c0005t0100	a0002c0005t0100g0079 a0002c0005t0100g0079	1	172	0.0058	49	c.734 others(66): Show c.734-1031_734-1030insAATTAGGACGTGGACATCTTTGGGGCCA TTATTCTGTCTACCTCATGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298148	T T	TCTGTCTA others(42): Show TCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0154 a0001c0001t0013g0154	1	170	0.0059	49	c.734 others(64): Show c.734-908_734-907insCCATTATCCTGTCTATCACATGGGGATTAG GACGTGGACATCTTTGGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298239	A A	ACATTATC others(42): Show ACATTATCCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0074 a0001c0001t0020g0074	1	118	0.0085	49	c.734 others(64): Show c.734-852_734-851insCCTGTCTATCACATGGGGATTAGGACGTGG ACATCTTTGGGGCCATTAT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298418	C C	CGTGGACA others(42): Show CGTGGACATCTTTGGGGCCATTATTCTGTCTATCACATGGGGATTAGGAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0051 a0001c0003t0051	a0001c0003t0051g0076 a0001c0003t0051g0076	1	172	0.0058	49	c.734 others(64): Show c.734-663_734-662insCCATTATTCTGTCTATCACATGGGGATTAG GATGTGGACATCTTTGGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298540	T T	TCTGTCTA others(42): Show TCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0074 a0001c0001t0020g0074	1	172	0.0058	49	c.734 others(64): Show c.734-516_734-515insACATTATCCTGTCTATCACATGGGGATTAG GACGTGGACATCTTTGGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLEKHG1_chr6_150594885_150848665	150810527	A A	AAAGAAAG others(42): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03195.hp2 HG02109.hp2 HG03195.hp2	a0001 a0015 a0001 a0015	a0001c0026 a0015c0057 a0001c0026 a0015c0057	a0001c0026t0001 a0015c0057t0001 a0001c0026t0001 a0015c0057t0001	a0001c0026t0001g0213 a0015c0057t0001g0227 a0001c0026t0001g0213 a0015c0057t0001g0227	2	261	0.0077	49	c.127 others(66): Show c.1278+804_1278+805insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAAGGAAGAAAGAAAG	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG4B_chr5_87168_194966	135682	A A	AAAAAAAT others(42): Show AAAAAAATATATATATATATATATATATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0030 a0030	a0030c0026 a0030c0026	a0030c0026t0056 a0030c0026t0056	a0030c0026t0056g0168 a0030c0026t0056g0168	1	85	0.0118	49	c.244 others(66): Show c.244-3800_244-3799insAAAAATATATATATATATATATATATAT ACATATATATATATATATATA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG7_chr12_92697989_92777455	92728016	A A	AATATATA others(42): Show AATATATATACACATATATACACACACCACATTCCATGGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp1 NA18906.hp1 HG01884.hp2 HG02258.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0005 a0002c0003t0014 a0002c0002t0005 a0002c0003t0014	a0002c0002t0005g0136 a0002c0002t0005g0139 a0002c0003t0014g0135 a0002c0002t0005g0136 a0002c0002t0005g0139 a0002c0003t0014g0135	3	240	0.0125	49	c.531 others(64): Show c.531-964_531-963insTATATACACACACCACATTCCATGGTGTAT ATATACATATATATACACA	PLEKHG7	ENSG00000187510.11	transcript	ENST00000344636.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHG7_chr12_92697989_92777455	92728020	T T	TATATACA others(42): Show TATATACACATATATACACACACCACATTCCATGGTGTATATATAAATAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02976.hp1 HG02895.hp1 HG02976.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0013 a0003c0004t0005 a0003c0004t0013	a0003c0004t0005g0211 a0003c0004t0013g0212 a0003c0004t0005g0211 a0003c0004t0013g0212	2	250	0.0080	49	c.531 others(64): Show c.531-964_531-963insTATATACACACACCACATTCCATGGTGTAT ATATAAATACATATACACA	PLEKHG7	ENSG00000187510.11	transcript	ENST00000344636.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLIN4_chr19_4497192_4523486	4509316	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAACAAAAAAAAACAAAAAAACAAACAAACAAAC	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0078 a0001c0003t0004g0078	1	367	0.0027	49	c.351 others(66): Show c.3515-362_3515-361insGTTTGTTTGTTTGTTTTTTTGTTTTTTT TTGTTTTTTTTTTTTTTTTTT	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/7			chr19	TogoVar
PLPP2_chr19_276043_296403	282482	T T	TGTGCACC others(42): Show TGTGCACCTGCCAGGCGCTCCCCCTCCCCCTGCACAGACGTGTTAGCCTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02486.hp1 others(3): Show HG01884.hp1 HG01891.hp1 HG02486.hp1 HG02809.hp1 HG03041.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0091 a0002c0002t0001g0127 a0001c0001t0001g0016 a0001c0001t0001g0091 a0002c0002t0001g0127	6	349	0.0172	49	c.541 others(64): Show c.541-173_541-172insCAGGCTAACACGTCTGTGCAGGGGGAGGGG GAGCGCCTGGCAGGTGCAC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding	4/5			chr19	TogoVar
PLPP2_chr19_276043_296403	291604	G G	GGAGGGGC others(42): Show GGAGGGGCGGGGAGGGGAGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0053 a0001c0001t0004g0053	1	273	0.0037	49	c.-26 others(58): Show c.-269_-268insTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCC CTCCCCGCCCCTC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		202		chr19	TogoVar
PLPP3_chr1_56489761_56584563	56557008	A A	AAGAAAGA others(42): Show AAGAAAGAAAGAAGGAAAGAAAGAAAGAAAAGAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02886.hp1 HG02145.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0001 a0001c0001t0007 a0001c0002t0001	a0001c0001t0007g0306 a0001c0002t0001g0303 a0001c0001t0007g0306 a0001c0002t0001g0303	2	260	0.0077	49	c.140 others(68): Show c.140-19897_140-19896insCTTTCTTTCTCTTTCTTTCTTTTCTT TCTTTCTTTCCTTCTTTCTTTCT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557010	G G	GAAAGAAA others(42): Show GAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAAAGAAAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0171 a0001c0003t0004g0171	1	281	0.0036	49	c.140 others(68): Show c.140-19899_140-19898insTTCTTTCTCTTTCTTTCTTTTCTTTC TTTCCTTCTTTCTTTCTTTCTTT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557010	G G	GAAAGAAA others(42): Show GAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAAGAAAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG02630.hp2 others(3): Show HG01515.hp1 HG01517.hp2 HG02630.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0127 a0001c0001t0003g0042 a0001c0001t0003g0043 others(3): Show a0001c0001t0001g0127 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0002t0001g0129 a0001c0002t0001g0145 a0001c0002t0001g0146	6	286	0.0210	49	c.140 others(68): Show c.140-19899_140-19898insTTCTTTCTCTTTCTTTCTTTTCTTTC TTTCTTTCCTTCTTTCTTTCTTT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPPR1_chr9_101023727_101330135	101078154	A A	AGGGGGAG others(42): Show AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAAGGGGGAGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	202	0.0050	49	c.-46 others(68): Show c.-46+49053_-46+49054insGGGGAGGGGGAGGGGGAGGGGGAGGG GGGAAGGGGGAGGGGGAGGGGGG	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLVAP_chr19_17346455_17382342	17349182	C C	CTTTCTTT others(42): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTCCTTTCCTTTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	404	0.0025	49	c.31 others(60): Show c.3179_*3180insAGGAAAGGAAAGGAAAGGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAA	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2272		chr19	TogoVar
PLXDC2_chr10_19811432_20294856	19966393	T T	TAAAATAT others(42): Show TAAAATATATATGTGCACATATATAAAAAATATATATGTGCACATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01106.hp1 others(24): Show HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01496.hp2 HG01516.hp1 HG01891.hp1 HG02080.hp1 HG02129.hp2 HG03017.hp1 HG03654.hp2 HG03688.hp1 HG03831.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA18964.hp1 NA18973.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 others(20): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0057 a0001c0001t0058 a0001c0001t0095 a0001c0001t0101 a0001c0001t0117 a0001c0001t0122 a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0049 a0002c0002t0052 a0003c0003t0008 a0003c0003t0009 a0003c0003t0018 a0003c0003t0024 a0003c0003t0079 a0003c0003t0105 a0003c0003t0106	a0001c0001t0003g0178 a0001c0001t0004g0128 a0001c0001t0015g0162 others(24): Show a0001c0001t0003g0178 a0001c0001t0004g0128 a0001c0001t0015g0162 a0001c0001t0016g0033 a0001c0001t0016g0034 a0001c0001t0021g0101 a0001c0001t0057g0160 a0001c0001t0058g0041 a0001c0001t0095g0100 a0001c0001t0101g0130 a0001c0001t0117g0060 a0001c0001t0122g0051 a0002c0002t0002g0017 a0002c0002t0005g0040 a0002c0002t0005g0083 a0002c0002t0005g0086 a0002c0002t0007g0058 a0002c0002t0049g0069 a0002c0002t0052g0174 a0003c0003t0008g0114 a0003c0003t0009g0019 a0003c0003t0018g0091 a0003c0003t0018g0098 a0003c0003t0024g0066 a0003c0003t0079g0090 a0003c0003t0105g0070 a0003c0003t0106g0036	27	53	0.5094	49	c.113 others(68): Show c.113-35381_113-35333dupAAAATATATATGTGCACATATATAAA AAATATATATGTGCACATATATA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNA2_chr1_208017242_208249384	208246100	T T	TAATTGAT others(42): Show TAATTGATAAAGCTCCAAGCTGAAAATTAGGGCCCTCTGGTTCTAAATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0001 a0006c0020t0001	a0006c0020t0001g0129 a0006c0020t0001g0129	1	310	0.0032	49	c.-25 others(60): Show c.-2539_-2538insTGATTTAGAACCAGAGGGCCCTAATTTTCAGCTT GGAGCTTTATCAATT	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding		1717		chr1	TogoVar
PLXNB2_chr22_50269979_50312646	50307773	G G	GGAGGGGG others(42): Show GGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGAGGGGGGAGGGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0156 a0004c0004t0002g0156	1	102	0.0098	49	c.-29 others(58): Show c.-295_-294insTTCCCCCTCCCCCCTCTTCCCCCTCCCCTCCCCCTC CCCCCTCCCCCTC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		128		chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50307785	G G	GAGGGGGA others(42): Show GAGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGGAAGAGGGGGAGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0151 a0001c0003t0001g0151	1	294	0.0034	49	c.-30 others(58): Show c.-307_-306insTCCCCCCTCCCCCTCTTCCCCCTCCCCCTCTTCCCC CTCCCCTCCCCCT	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		140		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594386	T T	TGGGGGAG others(42): Show TGGGGGAGGCGGTGGGGGGGGTGGGGGAGGCGGGGGGGGGTGTGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	323	0.0031	49	c.-45 others(60): Show c.-4582_-4581insCACCCCCACACCCCCCCCCGCCTCCCCCACCCCC CCCACCGCCTCCCCC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4547		chr22	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(42): Show AAAAAAAAAAATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0082 a0002c0004t0001g0082	1	45	0.0222	49	c.-95 others(58): Show c.-956_-955insATATATATATATATATATATATATATATATATATAT ATATTTTTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PNMA5_chrX_152983824_152999116	152998659	T T	TATATTAT others(42): Show TATATTATATATTATATAATATATAATATATAATATATATTATTTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18980.hp1 NA18943.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	170	0.0118	49	c.-49 others(60): Show c.-4957_-4956insTATATAAATAATATATATTATATATTATATATTA TATAATATATAATAT	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4544		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153391402	C C	CACCACAC others(42): Show CACCACACACCATGCACACCACGCACACACACACCACACACACCACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	344	0.0029	49	c.55 others(60): Show c.5503_*5504insATGTGTGGTGTGTGTGGTGTGTGTGTGCGTGGTG TGCATGGTGTGTGGT	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding		4236		chrX	TogoVar
PNPLA7_chr9_137454952_137555402	137466844	C C	CCTCAGAC others(42): Show CCTCAGACCCGGGCACGGATCAGACCACCTCCCACCACCGTCTCCACCAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02559.hp1 HG02886.hp2 others(5): Show HG02040.hp2 HG02559.hp1 HG02886.hp2 HG02922.hp2 HG02976.hp2 HG03471.hp2 HG03486.hp2 NA21309.hp1	a0001 a0002 a0009 others(2): Show a0001 a0002 a0009 a0011 a0015	a0001c0027 a0001c0035 a0002c0003 others(4): Show a0001c0027 a0001c0035 a0002c0003 a0009c0013 a0009c0030 a0011c0012 a0015c0014	a0001c0027t0001 a0001c0035t0001 a0002c0003t0001 others(4): Show a0001c0027t0001 a0001c0035t0001 a0002c0003t0001 a0009c0013t0001 a0009c0030t0001 a0011c0012t0001 a0015c0014t0001	a0001c0027t0001g0169 a0001c0035t0001g0183 a0002c0003t0001g0054 others(5): Show a0001c0027t0001g0169 a0001c0035t0001g0183 a0002c0003t0001g0054 a0009c0013t0001g0151 a0009c0030t0001g0124 a0011c0012t0001g0164 a0011c0012t0001g0165 a0015c0014t0001g0158	8	76	0.1053	49	c.303 others(66): Show c.3039+424_3039+472dupTTGGTGGAGACGGTGGTGGGAGGTGGTC TGATCCGTGCCCGGGTCTGAG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	26/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137503854	A A	AAAGAAGA others(42): Show AAAGAAGAATGAAGAAGAAGAAGAGAAGAAGAAGAAGAAGAAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0091 a0003c0008t0001g0091	1	185	0.0054	49	c.147 others(68): Show c.1473+1759_1473+1760insCTTCTTCTTTCTTCTTCTTCTTCTTC TCTTCTTCTTCTTCATTCTTCTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPT1_chr2_55629061_55698844	55650902	G G	GTCAGCCC others(42): Show GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18946.hp2 NA18984.hp1 others(2): Show NA18612.hp2 NA18946.hp2 NA18984.hp1 NA19078.hp2 NA19091.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0032 a0003c0003t0004 a0003c0003t0032	a0003c0003t0004g0105 a0003c0003t0004g0106 a0003c0003t0004g0107 others(2): Show a0003c0003t0004g0105 a0003c0003t0004g0106 a0003c0003t0004g0107 a0003c0003t0004g0108 a0003c0003t0032g0112	5	388	0.0129	49	c.149 others(68): Show c.1496-3498_1496-3450dupTCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGA	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	18/27			chr2	TogoVar
POLDIP2_chr17_28341633_28362527	28353520	C C	CAAAAAAA others(42): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	72	0.0139	49	c.438 others(64): Show c.438+174_438+175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	POLDIP2	ENSG00000004142.12	transcript	ENST00000540200.6	protein_coding	4/10			chr17	TogoVar
POR_chr7_75910155_75991855	75952072	T T	TGGCTGGC others(42): Show TGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02129.hp1 HG02148.hp1 others(4): Show HG00609.hp1 HG02129.hp1 HG02148.hp1 HG02273.hp2 NA18747.hp2 NA19005.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0001 a0001c0002 a0001c0004 a0002c0001	a0001c0002t0001 a0001c0004t0001 a0002c0001t0002 a0001c0002t0001 a0001c0004t0001 a0002c0001t0002	a0001c0002t0001g0154 a0001c0004t0001g0196 a0002c0001t0002g0123 others(4): Show a0001c0002t0001g0154 a0001c0004t0001g0196 a0002c0001t0002g0123 a0002c0001t0002g0191 a0002c0001t0002g0192 a0002c0001t0002g0193 a0002c0001t0002g0194	7	267	0.0262	49	c.-13 others(66): Show c.-13-1916_-13-1868dupGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGC	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
POR_chr7_75910155_75991855	75988765	A A	AGAAGGCC others(42): Show AGAAGGCCGGGTGGGGGGGTGGAGGAGAAGGCCGGGTGGGGGGTGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0024 a0001c0003t0001g0024	1	218	0.0046	49	c.22 others(60): Show c.2284_*2285insGAAGGCCGGGTGGGGGGGTGGAGGAGAAGGCCGG GTGGGGGGTGGAGGG	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		1911		chr7	TogoVar
POR_chr7_75910155_75991855	75989077	T T	TGGAGGGG others(42): Show TGGAGGGGTGGAGGTTGAGGGGGGGGGGAGGGGGGTGGAGGTTGAGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0132	1	211	0.0047	49	c.25 others(60): Show c.2596_*2597insGGAGGGGTGGAGGTTGAGGGGGGGGGGAGGGGGG TGGAGGTTGAGGGGG	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2223		chr7	TogoVar

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