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
PDE6B_chr4_620573_675782	669452	CACTACCC others(32): Show CACTACCCCATGCTATTCCCACTACGCCATGCTATTCCCG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01358.hp2 HG02622.hp2 others(1): Show HG00642.hp2 HG01358.hp2 HG02622.hp2 HG02683.hp1	a0004 a0008 a0004 a0008	a0004c0007 a0008c0028 a0004c0007 a0008c0028	a0004c0007t0008 a0008c0028t0008 a0004c0007t0008 a0008c0028t0008	a0004c0007t0008g0237 a0004c0007t0008g0238 a0004c0007t0008g0239 others(1): Show a0004c0007t0008g0237 a0004c0007t0008g0238 a0004c0007t0008g0239 a0008c0028t0008g0241	4	305	0.0131	-39	c.250 others(56): Show c.2504-593_2504-555delACTACCCCATGCTATTCCCACTACGCCA TGCTATTCCCG	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	21/21			chr4	TogoVar
PDE9A_chr21_42648621_42780509	42689154	TGAGGCTT others(32): Show TGAGGCTTCAGTGGGCATGGCCAGTGCCGTCCCCCTCAGC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0229 a0001c0005t0005g0229	1	322	0.0031	-39	c.218 others(56): Show c.218+1165_218+1203delCTTCAGTGGGCATGGCCAGTGCCGTCCC CCTCAGCGAGG	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDS5B_chr13_32581452_32783019	32721525	GGGGTGGC others(32): Show GGGGTGGCGGCCGGGCAGAGGTGCTCCTCACCTCCCAGAT	G G	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0297 a0001c0001t0020g0297	1	332	0.0030	-39	c.212 others(60): Show c.2124-10572_2124-10534delTGGCGGCCGGGCAGAGGTGCTCCT CACCTCCCAGATGGG	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	19/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDZD8_chr10_117272274_117380440	117357765	CCAAAAAA others(32): Show CCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0061 a0002c0003t0061	a0002c0003t0061g0292 a0002c0003t0061g0292	1	112	0.0089	-39	c.872 others(58): Show c.872+16552_872+16590delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTG	PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	1/4			chr10	TogoVar
PEPD_chr19_33381950_33526791	33393487	GCCTCCGT others(32): Show GCCTCCGTGAGCCTCAGCTGCCGCTGGTCAAACAGCCCCA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp2 HG02559.hp1 others(2): Show HG02258.hp2 HG02486.hp2 HG02559.hp1 HG03540.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0288 others(2): Show a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0014t0001g0263	5	305	0.0164	-39	c.968 others(56): Show c.968-2047_968-2009delTGGGGCTGTTTGACCAGCGGCAGCTGAG GCTCACGGAGG	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	12/14			chr19	TogoVar
PER2_chr2_238239044_238293610	238245341	GTGCACCC others(32): Show GTGCACCCAACCCAGGGTGCAGTGGGAGAGGTGAGCTCAC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0024 a0001c0005t0024	a0001c0005t0024g0306 a0001c0005t0024g0306	1	368	0.0027	-39	c.99 others(49): Show c.995_*1033delGTGAGCTCACCTCTCCCACTGCACCCTGGGTTGGG TGCA	PER2	ENSG00000132326.13	transcript	ENST00000254657.8	protein_coding	23/23	995		chr2	TogoVar
PEX5L_chr3_179789958_180041937	180023849	TCCTTGGT others(32): Show TCCTTGGTAGAGGAGACCCCCTTCAGAGCCATACCTAGCA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01891.hp2 HG02109.hp2 others(7): Show HG01261.hp2 HG01891.hp2 HG02109.hp2 HG02258.hp2 HG02809.hp1 HG02809.hp2 HG03041.hp2 HG03453.hp1 HG03486.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0003t0002 a0001c0003t0023	a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 others(7): Show a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0003g0214 a0001c0001t0004g0216 a0001c0001t0005g0215 a0001c0001t0005g0217 a0001c0003t0002g0053 a0001c0003t0023g0052 a0001c0003t0023g0054	10	218	0.0459	-39	c.21+ others(56): Show c.21+12691_21+12729delTGCTAGGTATGGCTCTGAAGGGGGTCTC CTCTACCAAGG	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	1/14			chr3	TogoVar
PEX5_chr12_7184686_7216459	7197213	AATGTAAT others(32): Show AATGTAATTATATATGTCATATGTAATAATTATATGTCAT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	417	0.0024	-39	c.449 others(56): Show c.449-1790_449-1752delTATATATGTCATATGTAATAATTATATG TCATATGTAAT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PFKFB3_chr10_6197932_6240532	6206973	GGCTCCTC others(32): Show GGCTCCTCACATCCCAGACGATGGGTGGCCAGGCAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG02886.hp1 others(2): Show HG02630.hp1 HG02647.hp1 HG02886.hp1 HG03139.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0016 a0001c0001t0021 others(1): Show a0001c0001t0010 a0001c0001t0016 a0001c0001t0021 a0001c0002t0089	a0001c0001t0010g0386 a0001c0001t0010g0404 a0001c0001t0016g0380 others(2): Show a0001c0001t0010g0386 a0001c0001t0010g0404 a0001c0001t0016g0380 a0001c0001t0021g0348 a0001c0002t0089g0403	5	430	0.0116	-39	c.76+ others(54): Show c.76+3647_76+3685delATCCCAGACGATGGGTGGCCAGGCAGAGAC GCTCCTCAC	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGBD5_chr1_230309490_230431332	230396000	TTCTTCCC others(32): Show TTCTTCCCTTTGCTTCCCTCTTTCTGCTCCCTTGCTTCCG	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0098 a0001c0002t0098	a0001c0002t0098g0111 a0001c0002t0098g0111	1	282	0.0035	-39	c.331 others(58): Show c.331+29559_331+29597delCGGAAGCAAGGGAGCAGAAAGAGGGA AGCAAAGGGAAGA	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	1/6			chr1	TogoVar
PGLYRP1_chr19_46014153_46028053	46021832	ACCCTGTC others(32): Show ACCCTGTCCTTCCCACAGGACCCGCCCACTCAACCCCGTT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0067 a0003c0004t0006g0067	1	454	0.0022	-39	c.287 others(54): Show c.287+864_287+902delAACGGGGTTGAGTGGGCGGGTCCTGTGGGA AGGACAGGG	PGLYRP1	ENSG00000008438.5	transcript	ENST00000008938.5	protein_coding	1/2			chr19	TogoVar
PGLYRP2_chr19_15463645_15484501	15466398	CACTGCAT others(32): Show CACTGCATTCTCAACCTCCTGGGCTCAAGCGATCCTCCTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	380	0.0026	-39	c.22 others(50): Show c.2226_*2264delTAGGAGGATCGCTTGAGCCCAGGAGGTTGAGAAT GCAGT	PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding		2246		chr19	TogoVar
PHKG2_chr16_30743425_30766176	30748999	GGGTGGTG others(32): Show GGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02735.hp1 HG03239.hp2 HG02647.hp2 HG02735.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0008 a0001c0001t0001g0099 a0001c0001t0003g0014 a0001c0001t0001g0008 a0001c0001t0001g0099 a0001c0001t0003g0014	3	138	0.0217	-39	c.95+ others(52): Show c.95+137_95+175delGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTG	PHKG2	ENSG00000156873.16	transcript	ENST00000563588.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
PHKG2_chr16_30743425_30766176	30749091	CTGCTGCT others(32): Show CTGCTGCTGCTGCTGCTGCTGGTGGTGCTGGTGCTGGTGG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00597.hp2 others(16): Show HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00738.hp2 HG01256.hp1 HG01978.hp1 HG01981.hp1 HG04184.hp2 NA18945.hp2 NA18964.hp1 NA18971.hp1 NA18971.hp2 NA18982.hp2 NA19074.hp2 NA19078.hp2 NA19087.hp2 NA20129.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0002 a0001c0001t0014 a0002c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0014 a0002c0002t0002 a0004c0004t0002	a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0012 others(8): Show a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0046 a0001c0001t0014g0009 a0002c0002t0002g0011 a0004c0004t0002g0058	19	261	0.0728	-39	c.95+ others(52): Show c.95+179_95+217delCTGCTGCTGCTGCTGCTGGTGGTGCTGGTGCT GGTGGTG	PHKG2	ENSG00000156873.16	transcript	ENST00000563588.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIEZO2_chr18_10665247_11154569	10944488	CATATATA others(32): Show CATATATATATATATATATCTTAGTAACAGATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp2 HG01169.hp2 others(8): Show HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01884.hp1 HG02055.hp2 HG02257.hp2 HG02451.hp2 HG02486.hp2 HG03130.hp1 HG03139.hp1 NA19043.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0009 a0015	a0001c0006 a0001c0017 a0002c0055 others(6): Show a0001c0006 a0001c0017 a0002c0055 a0002c0074 a0002c0076 a0004c0075 a0009c0034 a0009c0054 a0015c0019	a0001c0006t0001 a0001c0017t0004 a0002c0055t0002 others(6): Show a0001c0006t0001 a0001c0017t0004 a0002c0055t0002 a0002c0074t0001 a0002c0076t0002 a0004c0075t0002 a0009c0034t0002 a0009c0054t0001 a0015c0019t0001	a0001c0006t0001g0147 a0001c0017t0004g0142 a0001c0017t0004g0143 others(8): Show a0001c0006t0001g0147 a0001c0017t0004g0142 a0001c0017t0004g0143 a0002c0055t0002g0140 a0002c0074t0001g0031 a0002c0076t0002g0112 a0004c0075t0002g0073 a0009c0034t0002g0069 a0009c0054t0001g0077 a0015c0019t0001g0105 a0015c0019t0001g0106	11	65	0.1692	-39	c.287 others(58): Show c.287-33299_287-33261delATATATATATCTGTTACTAAGATATA TATATATATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	3/55			chr18	TogoVar
PIGL_chr17_16212210_16331411	16312456	GGCTCCTC others(32): Show GGCTCCTCACATCCCAGACGATGGGTGGCCAGGCAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02922.hp2 HG01891.hp1 HG02258.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117	3	244	0.0123	-39	c.427 others(56): Show c.427-1081_427-1043delATCCCAGACGATGGGTGGCCAGGCAGAG ACGCTCCTCAC	PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PIGU_chr20_34555542_34682092	34631747	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	316	0.0032	-39	c.529 others(56): Show c.529+2829_529+2867delATATATATATATATATATATATATATAT ATATATATATA	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11			chr20	TogoVar
PIGU_chr20_34555542_34682092	34631767	ATATATAT others(32): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA19011.hp1 NA19090.hp1 HG02129.hp2 NA19011.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0120	3	300	0.0100	-39	c.529 others(56): Show c.529+2809_529+2847delAAAAAAAAAAAAAAAAAAAAATATATAT ATATATATATA	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11			chr20	TogoVar
PIGX_chr3_196707377_196741007	196732238	ATATATAT others(32): Show ATATATATATATATATATATTTTATTTTATTTTATTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0204 a0001c0001t0042g0204	1	369	0.0027	-39	c.633 others(56): Show c.633+1148_633+1186delATATATATATATATATATTTTATTTTAT TTTATTTTTTT	PIGX	ENSG00000163964.18	transcript	ENST00000392391.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PIGX_chr3_196707377_196741007	196732240	ATATATAT others(32): Show ATATATATATATATATATTTTATTTTATTTTATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0202 a0001c0001t0018g0202	1	370	0.0027	-39	c.633 others(56): Show c.633+1150_633+1188delATATATATATATATATTTTATTTTATTT TATTTTTTTTT	PIGX	ENSG00000163964.18	transcript	ENST00000392391.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PIGX_chr3_196707377_196741007	196732242	ATATATAT others(32): Show ATATATATATATATATTTTATTTTATTTTATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0048 a0001c0001t0018g0048	1	402	0.0025	-39	c.633 others(56): Show c.633+1154_633+1192delATATATATATATTTTATTTTATTTTATT TTTTTTTTTAT	PIGX	ENSG00000163964.18	transcript	ENST00000392391.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PIGZ_chr3_196941356_196973833	196973642	TCTCTGCC others(32): Show TCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGGAGCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0262 a0002c0002t0002g0262	1	422	0.0024	-39	c.-49 others(50): Show c.-4995_-4957delGGGCTCCTCACATCCCAGACGATGGGCGGCCAGG CAGAG	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding		4810		chr3	TogoVar
PIK3C2G_chr12_18256518_18653416	18650703	TGTATATA others(32): Show TGTATATATCTATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0154 a0003c0003t0001g0154	1	174	0.0057	-39	c.26 others(50): Show c.2676_*2714delGTATATATCTATATATATATATATATATATATAT ATATA	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding		2288		chr12	TogoVar
PIK3R6_chr17_8797722_8872674	8827742	GGAGAGAG others(32): Show GGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03471.hp1 HG03579.hp2 HG02559.hp1 HG03471.hp1 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0014 a0003c0004t0001g0212 a0003c0004t0001g0213 a0001c0001t0001g0014 a0003c0004t0001g0212 a0003c0004t0001g0213	3	320	0.0094	-39	c.139 others(56): Show c.1392+331_1392+369delTCTCTCTCTCTCTCTCTCCTCTCTCTCT CTCTCTCTCTC	PIK3R6	ENSG00000276231.5	transcript	ENST00000619866.5	protein_coding	12/19			chr17	TogoVar
PINX1_chr8_10759961_10844875	10767725	CCACAGAG others(32): Show CCACAGAGACAGGCTCGGTGACCAGGCACCCTCACAGCCA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18955.hp2 NA18968.hp2 others(1): Show HG00438.hp1 NA18955.hp2 NA18968.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0255 a0001c0001t0001g0256 others(1): Show a0001c0001t0001g0232 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0292	4	324	0.0123	-39	c.472 others(56): Show c.472-1848_472-1810delTGGCTGTGAGGGTGCCTGGTCACCGAGC CTGTCTCTGTG	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar
PIRT_chr17_10817470_10843087	10841448	CATAGCCT others(32): Show CATAGCCTAGAAATATTGAAAAAATTAAGAAAAAAGATAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	452	0.0022	-39	c.-36 others(50): Show c.-3681_-3643delCTATCTTTTTTCTTAATTTTTTCAATATTTCTAG GCTAT	PIRT	ENSG00000233670.7	transcript	ENST00000580256.3	protein_coding		3362		chr17	TogoVar
PJA2_chr5_109329722_109414974	109353886	TGTCTATG others(32): Show TGTCTATGATATCTAGAGATATCTATAGATTAGATGTCTA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp1 HG03130.hp1 others(2): Show HG02257.hp1 HG02717.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0278 others(2): Show a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0280	5	342	0.0146	-39	c.176 others(58): Show c.1764+1990_1764+2028delTAGACATCTAATCTATAGATATCTCT AGATATCATAGAC	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109354476	TATAGATT others(32): Show TATAGATTAGATATCTATAATATCATAGATATCTATATCG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02257.hp1 HG02818.hp2 others(8): Show HG00741.hp1 HG02257.hp1 HG02818.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0004 a0001c0001t0003g0008 a0001c0001t0003g0009 others(8): Show a0001c0001t0003g0004 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0177 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0280	11	344	0.0320	-39	c.176 others(58): Show c.1764+1400_1764+1438delCGATATAGATATCTATGATATTATAG ATATCTAATCTAT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PKD2L1_chr10_100283149_100335228	100315005	AGGAAGGA others(32): Show AGGAAGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03688.hp1 NA18990.hp1 HG01934.hp1 HG03688.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0104 a0001c0001t0001g0251 a0001c0001t0001g0066 a0001c0001t0001g0104 a0001c0001t0001g0251	3	300	0.0100	-39	c.349 others(58): Show c.349+14167_349+14205delCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKLR_chr1_155284293_155306438	155298953	CCTTTCTT others(32): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0033 a0001c0002t0002g0033	1	214	0.0047	-39	c.283 others(56): Show c.283+1106_283+1144delAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAG	PKLR	ENSG00000143627.19	transcript	ENST00000342741.6	protein_coding	2/10			chr1	TogoVar
PKP3_chr11_389209_409908	401536	GCCCCGCT others(32): Show GCCCCGCTCACCCCCGGCCCGCTCACCCCCGGCCCCGCTC	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0194 a0001c0008t0001g0194	1	147	0.0068	-39	c.173 others(56): Show c.1737+832_1737+870delCCCCGCTCACCCCCGGCCCGCTCACCCC CGGCCCCGCTC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PKP3_chr11_389209_409908	401809	ACCCCCGG others(32): Show ACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	199	0.0050	-39	c.173 others(58): Show c.1737+1108_1737+1146delCCGGCCCCGCTCACCCCCGGCTCCAC TGACCCCGGCCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401972	ACCCCCGG others(32): Show ACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	210	0.0048	-39	c.173 others(58): Show c.1738-1102_1738-1064delCCGGCCCCGCTCACCCCCGGCTCCAC TGACCCCGGCCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402040	CGACCCCC others(32): Show CGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCG	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0025 a0001c0007t0001g0025	1	188	0.0053	-39	c.173 others(57): Show c.1738-1036_1738-998delACCCCCGGCCCCGCTCACCCCCGGCTC CACTGACCCCGG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402112	ACCCCCGG others(32): Show ACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18966.hp1 HG00621.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0056 a0001c0001t0001g0041 a0001c0001t0001g0056	2	144	0.0139	-39	c.173 others(56): Show c.1738-962_1738-924delCCGGCCCCGCTCACCCCCGGCTCCACTG ACCCCGGCCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402376	ACCCCGGC others(32): Show ACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGAC	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0025 a0001c0007t0001g0025	1	95	0.0105	-39	c.173 others(56): Show c.1738-682_1738-644delGGACCCCGCTCACCCCCGACCCCCGGCC CCGCTCACCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLA1A_chr3_119592885_119634811	119622172	AAGAAGAA others(32): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	418	0.0024	-39	c.101 others(58): Show c.1012+2524_1012+2562delAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGGAGA	PLA1A	ENSG00000144837.9	transcript	ENST00000273371.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCH2_chr1_2471289_2510532	2500789	CCCTCAGT others(32): Show CCCTCAGTCCTCCCTCCCCTCCCTCAGTCCTCCCTCCCCT	C C	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	382	0.0026	-39	c.266 others(58): Show c.2661+1072_2661+1110delTCAGTCCTCCCTCCCCTCCCTCAGTC CTCCCTCCCCTCC	PLCH2	ENSG00000149527.18	transcript	ENST00000378486.8	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLD1_chr3_171595404_171815483	171764872	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19067.hp1 NA18995.hp1 NA19067.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0166 a0002c0003t0005g0241 a0002c0003t0005g0166 a0002c0003t0005g0241	2	285	0.0070	-39	c.-31 others(58): Show c.-31-26829_-31-26791delCTTCCTTCCTTCCTTCCTTTCTTTCT TTCTTTCTTTCTT	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
PLD1_chr3_171595404_171815483	171764875	GAAAGAAA others(32): Show GAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0065 a0002c0003t0003g0065	1	274	0.0036	-39	c.-31 others(58): Show c.-31-26832_-31-26794delTTCCTTCCTTCCTTCCTTCCTTTCTT TCTTTCTTTCTTT	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
PLD2_chr17_4802152_4828430	4813710	TTAGCCAG others(32): Show TTAGCCAGGCGTGGTGGCGGGCGCCTGTAATTTCAGTTAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0242 a0001c0004t0001g0242	1	448	0.0022	-39	c.101 others(56): Show c.1011-706_1011-668delAGCCAGGCGTGGTGGCGGGCGCCTGTAA TTTCAGTTACT	PLD2	ENSG00000129219.14	transcript	ENST00000263088.11	protein_coding	10/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
PLEKHG1_chr6_150594885_150848665	150810496	GAGGGAAA others(32): Show GAGGGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp1 HG01070.hp1 others(19): Show HG00280.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01167.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp2 HG01515.hp1 HG01884.hp1 HG02055.hp2 HG02145.hp1 HG02451.hp2 HG02572.hp1 HG02683.hp1 HG02970.hp1 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03704.hp2 NA18522.hp1 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0012 a0001c0017 a0001c0019 a0001c0022 a0001c0044 a0004c0025	a0001c0001t0001 a0001c0003t0002 a0001c0004t0001 others(10): Show a0001c0001t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0008 a0001c0004t0010 a0001c0006t0001 a0001c0006t0032 a0001c0012t0001 a0001c0017t0001 a0001c0019t0004 a0001c0022t0001 a0001c0044t0001 a0004c0025t0007	a0001c0001t0001g0010 a0001c0001t0001g0187 a0001c0003t0002g0019 others(19): Show a0001c0001t0001g0010 a0001c0001t0001g0187 a0001c0003t0002g0019 a0001c0003t0002g0047 a0001c0003t0002g0054 a0001c0003t0002g0055 a0001c0004t0001g0084 a0001c0004t0001g0192 a0001c0004t0001g0196 a0001c0004t0008g0101 a0001c0004t0010g0021 a0001c0004t0010g0074 a0001c0004t0010g0115 a0001c0006t0001g0092 a0001c0006t0032g0252 a0001c0012t0001g0142 a0001c0017t0001g0242 a0001c0019t0004g0035 a0001c0019t0004g0065 a0001c0022t0001g0090 a0001c0044t0001g0150 a0004c0025t0007g0051	22	244	0.0902	-39	c.127 others(56): Show c.1278+764_1278+802delGGGAAAGAAAGAAAGAAAAAGAAAGAAA GAAAGAAAGAA	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG4B_chr5_87168_194966	158745	GGGTGTCT others(32): Show GGGTGTCTCCCCCATCTCCCCTCCTCCCTCTGCTCTTCCT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02257.hp1 HG02280.hp1 others(5): Show HG01099.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02622.hp1 HG02717.hp2 HG03041.hp1 NA18906.hp2	a0011 a0012 a0018 a0011 a0012 a0018	a0011c0023 a0011c0078 a0012c0020 others(3): Show a0011c0023 a0011c0078 a0012c0020 a0012c0067 a0018c0076 a0018c0077	a0011c0023t0053 a0011c0023t0054 a0011c0078t0055 others(4): Show a0011c0023t0053 a0011c0023t0054 a0011c0078t0055 a0012c0020t0011 a0012c0067t0042 a0018c0076t0060 a0018c0077t0045	a0011c0023t0053g0183 a0011c0023t0054g0186 a0011c0078t0055g0184 others(5): Show a0011c0023t0053g0183 a0011c0023t0054g0186 a0011c0078t0055g0184 a0012c0020t0011g0181 a0012c0020t0011g0182 a0012c0067t0042g0185 a0018c0076t0060g0191 a0018c0077t0045g0180	8	208	0.0385	-39	c.248 others(58): Show c.2487+1837_2487+1875delTGTCTCCCCCATCTCCCCTCCTCCCT CTGCTCTTCCTGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	11/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHS1_chr10_113746682_113788429	113785333	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG01081.hp2 others(37): Show HG00639.hp2 HG00733.hp1 HG01081.hp2 HG01109.hp2 HG01168.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG01943.hp2 HG01978.hp1 HG02080.hp1 HG02129.hp2 HG02145.hp1 HG02258.hp1 HG02602.hp2 HG02735.hp1 HG03098.hp2 HG03195.hp2 HG03490.hp1 HG03688.hp2 HG04199.hp1 HG04204.hp1 NA18944.hp2 NA18950.hp1 NA18955.hp2 NA18969.hp2 NA18998.hp2 NA19006.hp2 NA19009.hp1 NA19055.hp1 NA19066.hp1 NA19075.hp1 NA19082.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0004 a0002c0002 a0004c0009 a0001c0004 a0002c0002 a0004c0009	a0001c0004t0004 a0001c0004t0011 a0001c0004t0036 others(2): Show a0001c0004t0004 a0001c0004t0011 a0001c0004t0036 a0002c0002t0002 a0004c0009t0013	a0001c0004t0004g0006 a0001c0004t0004g0016 a0001c0004t0004g0018 others(23): Show a0001c0004t0004g0006 a0001c0004t0004g0016 a0001c0004t0004g0018 a0001c0004t0004g0039 a0001c0004t0004g0046 a0001c0004t0004g0047 a0001c0004t0004g0090 a0001c0004t0004g0117 a0001c0004t0004g0148 a0001c0004t0004g0158 a0001c0004t0004g0160 a0001c0004t0004g0161 a0001c0004t0004g0164 a0001c0004t0004g0213 a0001c0004t0004g0223 a0001c0004t0004g0227 a0001c0004t0004g0236 a0001c0004t0004g0237 a0001c0004t0004g0240 a0001c0004t0011g0155 a0001c0004t0011g0225 a0001c0004t0011g0226 a0001c0004t0036g0016 a0002c0002t0002g0017 a0004c0009t0013g0027 a0004c0009t0013g0060	40	400	0.1000	-39	c.45 others(50): Show c.4553_*4591delATATATATATATATATATATATATATATATATAT ATATA	PLEKHS1	ENSG00000148735.16	transcript	ENST00000694986.1	protein_coding		1905		chr10	TogoVar
PLS1_chr3_142591393_142718664	142628359	AGTGTGCA others(32): Show AGTGTGCATGTGTGCGCGCACATGTGCATGCAGTGTGCAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA18947.hp1 NA19005.hp1 HG00099.hp2 NA18947.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0146 a0001c0001t0003g0147 a0001c0001t0003g0272 a0001c0001t0001g0146 a0001c0001t0003g0147 a0001c0001t0003g0272	3	274	0.0109	-39	c.-37 others(58): Show c.-37+31860_-37+31898delTGTGCGCGCACATGTGCATGCAGTGT GCATGTGTGCATG	PLS1	ENSG00000120756.13	transcript	ENST00000457734.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLXNA4_chr7_132118340_132581470	132562066	CCTCCTCT others(32): Show CCTCCTCTTCCTCCTCCTCTCCCTCCTCCTTTCTCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19043.hp1 HG02258.hp2 NA19043.hp1	a0001 a0001	a0001c0010 a0001c0013 a0001c0010 a0001c0013	a0001c0010t0011 a0001c0013t0007 a0001c0010t0011 a0001c0013t0007	a0001c0010t0011g0001 a0001c0013t0007g0002 a0001c0010t0011g0001 a0001c0013t0007g0002	2	86	0.0233	-39	c.-87 others(58): Show c.-87+14317_-87+14355delAGGAGGAGAAAGGAGGAGGGAGAGGA GGAGGAAGAGGAG	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	1/31			chr7	TogoVar
PMAIP1_chr18_59894996_59909305	59907254	GAAATGAA others(32): Show GAAATGAAACCTTTCAAAGGAAAGACGTTTGAAACGTTTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	456	0.0022	-39	c.45 others(50): Show c.4502_*4540delAAATGAAACCTTTCAAAGGAAAGACGTTTGAAAC GTTTC	PMAIP1	ENSG00000141682.12	transcript	ENST00000316660.7	protein_coding		2950		chr18	TogoVar
PMS1_chr2_189779450_189882629	189816621	GTTTCTTT others(32): Show GTTTCTTTTTCTCCTTTTGGAACTTTAAAACTACCAGTAA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	232	0.0043	-39	c.419 others(56): Show c.419-1381_419-1343delTTTGGAACTTTAAAACTACCAGTAATTT CTTTTTCTCCT	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PNKD_chr2_218265519_218351793	218348863	CACCTCCC others(32): Show CACCTCCCAACGGGGCGGCGGCCGGGCGGAGGCGCCCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 NA18970.hp2 HG02165.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0218 a0001c0001t0001g0210 a0001c0001t0001g0218	2	274	0.0073	-39	c.38 others(50): Show c.3883_*3921delACCTCCCAACGGGGCGGCGGCCGGGCGGAGGCGC CCCCA	PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding		2071		chr2	TogoVar
POLE_chr12_132618762_132692342	132688119	AGGCGCGG others(32): Show AGGCGCGGGTGAAGACAGGGCGAGGGGAGCGGGTCTGCGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00639.hp1 others(26): Show HG00280.hp1 HG00544.hp1 HG00639.hp1 HG00639.hp2 HG01070.hp2 HG01071.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG02027.hp2 HG02523.hp2 HG03490.hp2 HG03492.hp1 HG04204.hp1 NA18942.hp2 NA18955.hp1 NA18967.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18986.hp1 NA18998.hp1 NA19000.hp1 NA19004.hp2 NA19074.hp1 NA19078.hp1 NA19082.hp1 NA19084.hp1 NA20300.hp2	a0002 a0002	a0002c0004 a0002c0006 a0002c0021 others(1): Show a0002c0004 a0002c0006 a0002c0021 a0002c0040	a0002c0004t0001 a0002c0006t0001 a0002c0021t0001 others(1): Show a0002c0004t0001 a0002c0006t0001 a0002c0021t0001 a0002c0040t0001	a0002c0004t0001g0014 a0002c0004t0001g0240 a0002c0004t0001g0241 others(24): Show a0002c0004t0001g0014 a0002c0004t0001g0240 a0002c0004t0001g0241 a0002c0004t0001g0242 a0002c0004t0001g0244 a0002c0004t0001g0245 a0002c0004t0001g0247 a0002c0004t0001g0248 a0002c0004t0001g0250 a0002c0004t0001g0251 a0002c0004t0001g0252 a0002c0004t0001g0253 a0002c0004t0001g0261 a0002c0006t0001g0004 a0002c0006t0001g0056 a0002c0006t0001g0254 a0002c0006t0001g0255 a0002c0006t0001g0256 a0002c0006t0001g0257 a0002c0006t0001g0258 a0002c0006t0001g0259 a0002c0006t0001g0260 a0002c0006t0001g0262 a0002c0006t0001g0263 a0002c0021t0001g0243 a0002c0021t0001g0246 a0002c0040t0001g0249	29	290	0.1000	-39	c.-84 others(48): Show c.-843_-805delCCGCAGACCCGCTCCCCTCGCCCTGTCTTCACCCGC GCC	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding		778		chr12	TogoVar

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