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
PRKX_chrX_3599340_3718649	3613854	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0157 a0001c0001t0019g0157	1	39	0.0256	21	c.952 others(38): Show c.952-1550_952-1530dupTTTTTTTTTTTTTTTTTTTTT	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	7/8			chrX	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	119	0.0084	21	c.75+ others(36): Show c.75+4515_75+4516insATATATATATATATATATATT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0107 a0001c0009t0001g0107	1	119	0.0084	21	c.75+ others(36): Show c.75+4515_75+4516insATATATATATATATATATTTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18959.hp1 NA19054.hp2 HG01261.hp1 NA18959.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113	3	121	0.0248	21	c.75+ others(36): Show c.75+4515_75+4516insATATATATATATATATTTTTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	119	0.0084	21	c.75+ others(36): Show c.75+4515_75+4516insATATATATATATATTTTTTTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18990.hp2 NA19074.hp1 NA18963.hp1 NA18990.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0002 a0001c0001t0001 a0001c0010t0002	a0001c0001t0001g0085 a0001c0001t0001g0148 a0001c0010t0002g0147 a0001c0001t0001g0085 a0001c0001t0001g0148 a0001c0010t0002g0147	3	121	0.0248	21	c.75+ others(36): Show c.75+4515_75+4516insATATATATATATTTTTTTTTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496215	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00673.hp1 HG02074.hp2 others(4): Show HG00639.hp1 HG00673.hp1 HG02074.hp2 HG02148.hp1 NA18612.hp2 NA19011.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0280 a0001c0001t0001g0292 a0001c0001t0001g0298 others(4): Show a0001c0001t0001g0280 a0001c0001t0001g0292 a0001c0001t0001g0298 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0344 a0001c0002t0002g0310	7	314	0.0223	21	c.75+ others(36): Show c.75+4515_75+4516insATATATATATATATATATATA	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9			chr12	TogoVar
PROM1_chr4_15963228_16089023	16004829	T T	TTCTTTCT others(14): Show TTCTTTCTTTCTTTTTTCTTCC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02135.hp1 NA18747.hp1 others(5): Show HG02074.hp2 HG02135.hp1 NA18747.hp1 NA18942.hp1 NA18953.hp2 NA18977.hp1 NA19011.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0039 a0001c0001t0001g0193 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0039 a0001c0001t0001g0193 a0001c0001t0001g0204 a0001c0001t0001g0287 a0001c0001t0001g0325 a0001c0001t0001g0370	8	298	0.0268	21	c.145 others(40): Show c.1454+1708_1454+1709insGGAAGAAAAAAGAAAGAAAGA	PROM1	ENSG00000007062.12	transcript	ENST00000447510.7	protein_coding	13/27			chr4	TogoVar
PROM1_chr4_15963228_16089023	16004829	T T	TTCTTTCT others(14): Show TTCTTTCTTTTTTCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02723.hp2 HG03486.hp1 others(2): Show HG02717.hp1 HG02723.hp2 HG03486.hp1 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0011 a0001c0001t0001 a0001c0001t0002 a0001c0003t0011	a0001c0001t0001g0035 a0001c0001t0001g0106 a0001c0001t0001g0350 others(2): Show a0001c0001t0001g0035 a0001c0001t0001g0106 a0001c0001t0001g0350 a0001c0001t0002g0342 a0001c0003t0011g0013	5	295	0.0169	21	c.145 others(40): Show c.1454+1708_1454+1709insGGAAGGAAGAAAAAAGAAAGA	PROM1	ENSG00000007062.12	transcript	ENST00000447510.7	protein_coding	13/27			chr4	TogoVar
PROSER2_chr10_11818356_11877277	11840953	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	220	0.0045	21	c.-81 others(40): Show c.-81-11044_-81-11043insTATATATATATATATATATAT	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3			chr10	TogoVar
PRPF31_chr19_54110754_54136713	54134157	T T	TCTCCACC others(14): Show TCTCCACCTTCCCTCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	225	0.0044	21	c.27 others(32): Show c.2725_*2726insCTCCACCTTCCCTCTCCCTCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2445		chr19	TogoVar
PRPF3_chr1_150316533_150358233	150348460	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03139.hp2 HG03239.hp2 HG01255.hp2 HG03139.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0003t0002g0238 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0003t0002g0238	3	11	0.2727	21	c.184 others(38): Show c.1844-678_1844-677insTTTTTTTTTTTTTTTTTTTTT	PRPF3	ENSG00000117360.13	transcript	ENST00000324862.7	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF6_chr20_63976132_64038100	63976764	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	40	0.0250	21	c.-44 others(32): Show c.-4482_-4481insAAAAAAAAAAAAAAAAAAAAA	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding		4367		chr20	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03704.hp1 NA18979.hp2 HG02602.hp1 HG03704.hp1 NA18979.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0003 a0001c0002t0001 a0002c0003t0003	a0001c0002t0001g0280 a0001c0002t0001g0321 a0002c0003t0003g0262 a0001c0002t0001g0280 a0001c0002t0001g0321 a0002c0003t0003g0262	3	219	0.0137	21	c.582 others(36): Show c.582-989_582-988insATATATATATATATATTTTTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18956.hp2 HG00544.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0272 a0001c0002t0001g0312 a0001c0002t0001g0272 a0001c0002t0001g0312	2	218	0.0092	21	c.582 others(36): Show c.582-989_582-988insATATATATATATATATATTTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA18906.hp2 NA18943.hp2 others(4): Show HG01192.hp2 NA18906.hp2 NA18943.hp2 NA18961.hp2 NA19043.hp1 NA19064.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0004 a0001c0002 a0002c0003 a0002c0004	a0001c0002t0001 a0001c0002t0004 a0002c0003t0003 others(2): Show a0001c0002t0001 a0001c0002t0004 a0002c0003t0003 a0002c0003t0007 a0002c0004t0005	a0001c0002t0001g0011 a0001c0002t0004g0263 a0002c0003t0003g0245 others(4): Show a0001c0002t0001g0011 a0001c0002t0004g0263 a0002c0003t0003g0245 a0002c0003t0003g0256 a0002c0003t0003g0269 a0002c0003t0007g0334 a0002c0004t0005g0131	7	223	0.0314	21	c.582 others(36): Show c.582-989_582-988insATATATATATATATATATATT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0230 a0002c0003t0005g0230	1	217	0.0046	21	c.582 others(36): Show c.582-989_582-988insATATATATATATATATATATA	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPSAP1_chr17_76304478_76358916	76314228	G G	GTATGTAT others(14): Show GTATGTATGTATGTATGTATGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0032 a0001c0001t0012g0072 a0001c0001t0012g0032 a0001c0001t0012g0072	2	353	0.0057	21	c.782 others(36): Show c.782-338_782-337insACATACATACATACATACATA	PRPSAP1	ENSG00000161542.17	transcript	ENST00000446526.8	protein_coding	7/9			chr17	TogoVar
PRPSAP1_chr17_76304478_76358916	76345237	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0043 a0001c0001t0010g0043	1	7	0.1429	21	c.224 others(36): Show c.224-501_224-500insTTTTTTTTTTTTTTTTTTTTT	PRPSAP1	ENSG00000161542.17	transcript	ENST00000446526.8	protein_coding	2/9			chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18892727	G G	GTGTGTGT others(14): Show GTGTGTGTGTGTGTTATTTATT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02602.hp1 HG01192.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0067 a0001c0002t0002g0111 a0001c0002t0002g0067 a0001c0002t0002g0111	2	237	0.0084	21	c.584 others(38): Show c.584+2851_584+2852insGTGTGTGTGTGTTATTTATTT	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18897450	G G	GTGTTGTT others(14): Show GTGTTGTTGTTGTTGTTGTTGT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0160 a0001c0002t0002g0160	1	272	0.0037	21	c.584 others(38): Show c.584+7575_584+7576insTTGTTGTTGTTGTTGTTGTTG	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18897453	G G	GTGTTGTT others(14): Show GTGTTGTTGTTGTTGTTGTTGT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0155 a0001c0002t0002g0155	1	214	0.0047	21	c.584 others(38): Show c.584+7581_584+7601dupGTTGTTGTTGTTGTTGTTGTT	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRR14L_chr22_31676347_31755132	31677604	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0019 a0012c0020t0019	a0012c0020t0019g0115 a0012c0020t0019g0115	1	155	0.0065	21	c.79 others(32): Show c.7922_*7923insATATATATATATATTTTTTTT	PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding		3742		chr22	TogoVar
PRR23A_chr3_138998962_139011268	139010701	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	2	63	0.0317	21	c.-44 others(32): Show c.-4434_-4433insAAAAAAAAAAAAAAAAAAAAA	PRR23A	ENSG00000206260.4	transcript	ENST00000383163.4	protein_coding		4434		chr3	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18971.hp1 NA20300.hp1 HG02809.hp2 NA18971.hp1 NA20300.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0002 a0005c0005 a0001c0001 a0003c0002 a0005c0005	a0001c0001t0001 a0003c0002t0001 a0005c0005t0003 a0001c0001t0001 a0003c0002t0001 a0005c0005t0003	a0001c0001t0001g0085 a0003c0002t0001g0052 a0005c0005t0003g0212 a0001c0001t0001g0085 a0003c0002t0001g0052 a0005c0005t0003g0212	3	94	0.0319	21	c.-51 others(38): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131448543	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp2 HG02683.hp1 others(2): Show HG00642.hp1 HG01069.hp2 HG02683.hp1 NA18747.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0038 a0001c0001t0001 a0001c0001t0038	a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0089 others(2): Show a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0089 a0001c0001t0001g0107 a0001c0001t0038g0127	5	71	0.0704	21	c.112 others(38): Show c.1120+746_1120+766dupAAAAAAAAAAAAAAAAAAAAA	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2C_chr1_171480530_171598511	171518495	T T	TTTTTTTT others(14): Show TTTTTTTTCAATTTTTTTTCAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03492.hp2 HG03579.hp1 others(2): Show HG03225.hp1 HG03492.hp2 HG03579.hp1 NA19060.hp1 NA20805.hp1	a0001 a0018 a0001 a0018	a0001c0001 a0001c0005 a0018c0018 a0001c0001 a0001c0005 a0018c0018	a0001c0001t0004 a0001c0005t0004 a0018c0018t0017 a0001c0001t0004 a0001c0005t0004 a0018c0018t0017	a0001c0001t0004g0082 a0001c0005t0004g0158 a0001c0005t0004g0171 others(2): Show a0001c0001t0004g0082 a0001c0005t0004g0158 a0001c0005t0004g0171 a0001c0005t0004g0276 a0018c0018t0017g0084	5	249	0.0201	21	c.750 others(36): Show c.750+688_750+689insCAATTTTTTTTCAATTTTTTT	PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRT4_chr7_128345325_128366690	128363132	T T	TGGATGCT others(14): Show TGGATGCTTTATAAGAGTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0059 a0001c0005t0005g0059	1	446	0.0022	21	c.-17 others(32): Show c.-1762_-1761insGGAGACTCTTATAAAGCATCC	PRRT4	ENSG00000224940.10	transcript	ENST00000446477.7	protein_coding		1443		chr7	TogoVar
PRRX1_chr1_170659131_170744421	170664088	C C	CTCTCTCT others(14): Show CTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG04199.hp1 HG02056.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0054 a0001c0001t0004g0177 a0001c0001t0001g0054 a0001c0001t0004g0177	2	141	0.0142	21	c.-13 others(30): Show c.-131_-130insTCTCTCTCTCTCTCTCTCTCT	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding		42		chr1	TogoVar
PRRX1_chr1_170659131_170744421	170664107	C C	CTCTCTCT others(14): Show CTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	354	0.0028	21	c.-11 others(30): Show c.-112_-111insTCTCTCTCTCTCTCTCTCTCT	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding		23		chr1	TogoVar
PRRX1_chr1_170659131_170744421	170669425	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01168.hp2 HG02040.hp1 others(6): Show HG00741.hp2 HG01168.hp2 HG02040.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 NA18944.hp1 NA18970.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0026	a0001c0001t0001g0023 a0001c0001t0001g0060 a0001c0001t0001g0071 others(6): Show a0001c0001t0001g0023 a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0003g0072 a0001c0001t0005g0016 a0001c0001t0007g0121 a0001c0001t0026g0070	9	47	0.1915	21	c.241 others(38): Show c.241+4975_241+4995dupAAAAAAAAAAAAAAAAAAAAA	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRSS48_chr4_151272161_151296862	151275865	C C	CGGAGTCT others(14): Show CGGAGTCTCGCTCTGTCGCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	426	0.0023	21	c.-13 others(32): Show c.-1308_-1307insGGAGTCTCGCTCTGTCGCCCA	PRSS48	ENSG00000189099.12	transcript	ENST00000455694.7	protein_coding		1295		chr4	TogoVar
PRSS55_chr8_10520532_10543819	10543472	C C	CTTTTCTT others(14): Show CTTTTCTTTTCTTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00738.hp1 HG01993.hp2 HG00099.hp2 HG00738.hp1 HG01993.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0010 a0004c0008t0001g0107 a0004c0008t0001g0010 a0004c0008t0001g0107	3	469	0.0064	21	c.46 others(32): Show c.4679_*4680insTTTTCTTTTCTTTTCTTTTCT	PRSS55	ENSG00000184647.11	transcript	ENST00000328655.8	protein_coding		4654		chr8	TogoVar
PRTFDC1_chr10_24843614_24957606	24880815	C C	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA19003.hp1 NA19060.hp2 others(1): Show NA18980.hp1 NA19003.hp1 NA19060.hp2 NA19068.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0003c0003t0004 a0001c0001t0004 a0003c0003t0004	a0001c0001t0004g0208 a0001c0001t0004g0234 a0001c0001t0004g0269 others(1): Show a0001c0001t0004g0208 a0001c0001t0004g0234 a0001c0001t0004g0269 a0003c0003t0004g0074	4	335	0.0119	21	c.340 others(38): Show c.340-8773_340-8753dupAGAAAGAAAGAAAGAAAGAAA	PRTFDC1	ENSG00000099256.19	transcript	ENST00000320152.11	protein_coding	3/8			chr10	TogoVar
PRTG_chr15_55606544_55748152	55645433	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00738.hp2 others(30): Show HG00140.hp2 HG00438.hp1 HG00738.hp2 HG01109.hp2 HG01361.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG02074.hp1 HG02109.hp2 HG02486.hp2 HG02647.hp2 HG02723.hp2 HG02738.hp1 HG03098.hp1 HG03195.hp2 HG03239.hp1 HG03491.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG04115.hp2 HG04204.hp1 NA18962.hp1 NA18974.hp2 NA19000.hp2 NA19012.hp1 NA19043.hp1 NA19077.hp1 NA19082.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 a0001c0001t0032 a0001c0001t0033 a0001c0001t0041 a0001c0001t0079 a0001c0001t0081 a0001c0001t0096 a0001c0001t0100 a0001c0003t0018 a0001c0007t0038 a0001c0007t0106 a0001c0007t0107	a0001c0001t0001g0130 a0001c0001t0001g0144 a0001c0001t0001g0147 others(30): Show a0001c0001t0001g0130 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0203 a0001c0001t0001g0226 a0001c0001t0005g0180 a0001c0001t0005g0185 a0001c0001t0005g0187 a0001c0001t0015g0201 a0001c0001t0032g0103 a0001c0001t0033g0101 a0001c0001t0041g0263 a0001c0001t0041g0280 a0001c0001t0079g0178 a0001c0001t0081g0171 a0001c0001t0096g0229 a0001c0001t0100g0232 a0001c0003t0018g0073 a0001c0007t0038g0231 a0001c0007t0106g0109 a0001c0007t0107g0110	33	79	0.4177	21	c.204 others(40): Show c.2042-4226_2042-4225insTTTTTTTTTTTTTTTTTTTTT	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	11/19			chr15	TogoVar
PRTG_chr15_55606544_55748152	55708148	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0049 a0002c0002t0011g0050 a0002c0002t0011g0049 a0002c0002t0011g0050	2	46	0.0435	21	c.398 others(40): Show c.398-24238_398-24218dupTTTTTTTTTTTTTTTTTTTTT	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	2/19			chr15	TogoVar
PRTN3_chr19_835999_853175	842413	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01928.hp1 HG01934.hp1 others(7): Show HG01884.hp2 HG01928.hp1 HG01934.hp1 HG02004.hp2 HG02293.hp2 HG02809.hp1 HG03471.hp2 HG03540.hp2 HG03704.hp1 HG03927.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0100 others(7): Show a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0002g0104 a0002c0002t0002g0106	10	111	0.0901	21	c.62- others(36): Show c.62-1044_62-1024dupTTTTTTTTTTTTTTTTTTTTT	PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRUNE2_chr9_76606376_76911114	76774453	T T	TATTTATT others(14): Show TATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02886.hp2 HG02723.hp2 HG02886.hp2	a0002 a0026 a0002 a0026	a0002c0002 a0026c0034 a0002c0002 a0026c0034	a0002c0002t0001 a0026c0034t0003 a0002c0002t0001 a0026c0034t0003	a0002c0002t0001g0084 a0026c0034t0003g0161 a0002c0002t0001g0084 a0026c0034t0003g0161	2	119	0.0168	21	c.756 others(40): Show c.756+49178_756+49179insTAAATAAATAAATAAATAAAT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76774453	T T	TTTTTATT others(14): Show TTTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp2 HG00642.hp1 others(8): Show HG00597.hp1 HG00621.hp2 HG00642.hp1 HG00741.hp1 HG01074.hp2 HG02155.hp2 HG02698.hp1 HG03017.hp1 HG03017.hp2 HG06807.hp2 NA18747.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003 a0007c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0030 a0001c0004t0001 a0002c0002t0001 a0002c0002t0003 a0003c0003t0028 a0007c0008t0001	a0001c0001t0001g0031 a0001c0001t0001g0120 a0001c0001t0003g0066 others(8): Show a0001c0001t0001g0031 a0001c0001t0001g0120 a0001c0001t0003g0066 a0001c0001t0004g0133 a0001c0001t0007g0217 a0001c0001t0030g0079 a0001c0004t0001g0085 a0002c0002t0001g0023 a0002c0002t0003g0166 a0003c0003t0028g0046 a0007c0008t0001g0118	11	128	0.0859	21	c.756 others(40): Show c.756+49178_756+49179insTAAATAAATAAATAAATAAAA	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76774457	T T	TATTTATT others(14): Show TATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02071.hp1 HG02080.hp2 others(28): Show HG00140.hp1 HG02071.hp1 HG02080.hp2 HG02109.hp2 HG02155.hp1 HG02280.hp2 HG02809.hp1 HG03139.hp1 HG03225.hp1 HG03239.hp2 HG03688.hp1 HG03704.hp1 HG03927.hp1 HG04204.hp2 NA18522.hp1 NA18942.hp1 NA18943.hp2 NA18950.hp2 NA18955.hp2 NA18956.hp1 NA18981.hp1 NA18983.hp1 NA18989.hp1 NA19003.hp1 NA19007.hp2 NA19030.hp1 NA19058.hp1 NA19063.hp2 NA19068.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0007 a0010 a0011 a0012 a0013 a0023	a0001c0001 a0001c0004 a0001c0028 others(13): Show a0001c0001 a0001c0004 a0001c0028 a0001c0045 a0002c0002 a0003c0003 a0003c0015 a0005c0007 a0005c0009 a0005c0027 a0007c0008 a0010c0013 a0011c0014 a0012c0021 a0013c0017 a0023c0024	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0004t0003 a0001c0028t0007 a0001c0045t0003 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0015t0003 a0005c0007t0001 a0005c0009t0009 a0005c0027t0003 a0007c0008t0010 a0010c0013t0001 a0010c0013t0002 a0011c0014t0003 a0011c0014t0005 a0012c0021t0021 a0013c0017t0005 a0023c0024t0002	a0001c0001t0001g0029 a0001c0001t0001g0151 a0001c0001t0003g0083 others(28): Show a0001c0001t0001g0029 a0001c0001t0001g0151 a0001c0001t0003g0083 a0001c0001t0018g0102 a0001c0004t0003g0227 a0001c0028t0007g0058 a0001c0045t0003g0226 a0002c0002t0001g0214 a0003c0003t0001g0041 a0003c0003t0001g0092 a0003c0003t0001g0162 a0003c0003t0002g0039 a0003c0003t0003g0094 a0003c0015t0003g0159 a0005c0007t0001g0020 a0005c0007t0001g0036 a0005c0007t0001g0054 a0005c0007t0001g0055 a0005c0007t0001g0076 a0005c0007t0001g0126 a0005c0009t0009g0033 a0005c0027t0003g0212 a0007c0008t0010g0209 a0010c0013t0001g0042 a0010c0013t0001g0068 a0010c0013t0002g0128 a0011c0014t0003g0105 a0011c0014t0005g0099 a0012c0021t0021g0240 a0013c0017t0005g0010 a0023c0024t0002g0077	31	128	0.2422	21	c.756 others(40): Show c.756+49174_756+49175insTAAATAAATAAATAAATAAAT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76855082	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0005 a0002c0012t0005	a0002c0012t0005g0103 a0002c0012t0005g0103	1	150	0.0067	21	c.37- others(34): Show c.37-875_37-874insATATATATATATATTTTTTTT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	1/18			chr9	TogoVar
PRXL2A_chr10_80403551_80442115	80406757	C C	CTTATATA others(14): Show CTTATATATCATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01257.hp2 HG00639.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0023 a0001c0001t0003 a0001c0001t0023	a0001c0001t0003g0071 a0001c0001t0023g0081 a0001c0001t0003g0071 a0001c0001t0023g0081	2	27	0.0741	21	c.-18 others(32): Show c.-1889_-1888insTTATATATCATATATATATAT	PRXL2A	ENSG00000122378.14	transcript	ENST00000606162.6	protein_coding		1793		chr10	TogoVar
PRXL2A_chr10_80403551_80442115	80406790	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	292	0.0034	21	c.-18 others(32): Show c.-1856_-1855insTATATATATATATATATATAT	PRXL2A	ENSG00000122378.14	transcript	ENST00000606162.6	protein_coding		1760		chr10	TogoVar
PSD3_chr8_18522303_19018703	18524782	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0085 a0002c0003t0085	a0002c0003t0085g0227 a0002c0003t0085g0227	1	123	0.0081	21	c.10 others(34): Show c.10960_*10961insTTTTTTTTTTTTTTTTTTTTT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding		2520		chr8	TogoVar
PSD3_chr8_18522303_19018703	18570843	C C	CTATTATT others(14): Show CTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0027 a0002c0007t0027	a0002c0007t0027g0168 a0002c0007t0027g0168	1	92	0.0109	21	c.278 others(40): Show c.2784+1664_2784+1684dupATAATAATAATAATAATAATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	14/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18949244	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0079 a0004c0006t0079	a0004c0006t0079g0216 a0004c0006t0079g0216	1	81	0.0123	21	c.22- others(38): Show c.22-13103_22-13102insATATATATATATATTTTTTTT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	1/15			chr8	TogoVar
PSEN1_chr14_73131507_73228691	73151895	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0306 a0001c0001t0011g0306	1	360	0.0028	21	c.87+ others(36): Show c.87+3789_87+3790insATATATATATATATATATATA	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	3/11			chr14	TogoVar
PSG5_chr19_43162743_43191536	43182705	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp2 HG01261.hp1 others(29): Show HG00280.hp1 HG00621.hp2 HG01261.hp1 HG01496.hp2 HG02056.hp2 HG02071.hp1 HG02523.hp2 HG02572.hp2 HG02818.hp2 HG02886.hp1 HG02965.hp1 HG02970.hp2 HG03490.hp1 NA18940.hp2 NA18948.hp1 NA18952.hp1 NA18957.hp2 NA18972.hp1 NA18978.hp1 NA18979.hp2 NA18991.hp2 NA18994.hp2 NA19011.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19078.hp2 NA19083.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2	a0001 a0004 a0018 others(1): Show a0001 a0004 a0018 a0021	a0001c0001 a0004c0004 a0018c0019 others(1): Show a0001c0001 a0004c0004 a0018c0019 a0021c0024	a0001c0001t0001 a0001c0001t0007 a0004c0004t0003 others(2): Show a0001c0001t0001 a0001c0001t0007 a0004c0004t0003 a0018c0019t0003 a0021c0024t0001	a0001c0001t0001g0004 a0001c0001t0001g0042 a0001c0001t0001g0043 others(15): Show a0001c0001t0001g0004 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0191 a0001c0001t0007g0192 a0004c0004t0003g0093 a0018c0019t0003g0184 a0021c0024t0001g0141	32	96	0.3333	21	c.430 others(38): Show c.430+2076_430+2077insAAAAAAAAAAAAAAAAAAAAA	PSG5	ENSG00000204941.14	transcript	ENST00000342951.11	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA18962.hp2 NA18990.hp1 HG02293.hp2 NA18962.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0011 a0001c0004t0002 a0001c0001t0001 a0001c0001t0011 a0001c0004t0002	a0001c0001t0001g0014 a0001c0001t0011g0213 a0001c0004t0002g0039 a0001c0001t0001g0014 a0001c0001t0011g0213 a0001c0004t0002g0039	3	138	0.0217	21	c.430 others(38): Show c.430+2096_430+2097insATATATATATATATATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	136	0.0074	21	c.430 others(38): Show c.430+2096_430+2097insAAATATATATATATATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar

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