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
PIBF1_chr13_72777133_73021461	72927996	C C	CATATATA others(95): Show CATATATATATACATATATATACATATATATACATATATATATATATATA CATATATATATACATATATATACATATATATACATATATATATATATATA CAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	293	0.0034	102	c.173 others(121): Show c.1731-3160_1731-3159insTACATATATATACATATATATACATA TATATATATATATACATATATATATACATATATATACATATATATACATA TATATATATATATACATATATATATA	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIK3R1_chr5_68210756_68306821	68262796	C C	CATATATA others(95): Show CATATATACATGTAGATGCATGTAGATACATGTATACATATATACATGTA GATGCATGTAGATACATGTGTACATATATACATGTAGATGCATGTAGATG CAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp2 HG02717.hp1 others(2): Show HG02055.hp2 HG02451.hp2 HG02717.hp1 HG03209.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0012 a0002c0004 a0001c0001 a0001c0012 a0002c0004	a0001c0001t0011 a0001c0012t0052 a0002c0004t0001 a0001c0001t0011 a0001c0012t0052 a0002c0004t0001	a0001c0001t0011g0035 a0001c0001t0011g0233 a0001c0012t0052g0234 others(2): Show a0001c0001t0011g0035 a0001c0001t0011g0233 a0001c0012t0052g0234 a0002c0004t0001g0243 a0002c0004t0001g0247	5	270	0.0185	102	c.335 others(121): Show c.335-10594_335-10593insATATATACATGTAGATGCATGTAGAT ACATGTATACATATATACATGTAGATGCATGTAGATACATGTGTACATAT ATACATGTAGATGCATGTAGATGCAT	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15			chr5	TogoVar
PITPNM3_chr17_6446263_6561555	6561108	T T	TCTCCTCT others(95): Show TCTCCTCTCTTTCTCCCCTCCTCCTCTTCCTCCTTCTCTCCCCTCCTCCT CTTCCTCATCCTCCTCCCCTCCTCTTCCTCCTTCTCATCCTCCTTCCCTC TTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0045 a0002c0005t0045	a0002c0005t0045g0117 a0002c0005t0045g0117	1	19	0.0526	102	c.-47 others(113): Show c.-4703_-4702insGAAGAGGGAAGGAGGATGAGAAGGAGGAAGAGGA GGGGAGGAGGATGAGGAAGAGGAGGAGGGGAGAGAAGGAGGAAGAGGAGG AGGGGAGAAAGAGAGGAG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4554		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6561108	T T	TCTCCTCT others(95): Show TCTCCTCTTCTTTTCTCCCCTCCTCCTCTTCCTCCTTCTCCCCTCCTCCT CTTCCTCATCCTCCTCCCCTCCTCTTCCTCCTTCTCATCCTCCTTCCCTC TTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0188 a0001c0001t0038g0188	1	19	0.0526	102	c.-47 others(113): Show c.-4703_-4702insGAAGAGGGAAGGAGGATGAGAAGGAGGAAGAGGA GGGGAGGAGGATGAGGAAGAGGAGGAGGGGAGAAGGAGGAAGAGGAGGAG GGGAGAAAAGAAGAGGAG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4554		chr17	TogoVar
PKD2L1_chr10_100283149_100335228	100314969	A A	AAGGGAAG others(95): Show AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	301	0.0033	102	c.349 others(121): Show c.349+14241_349+14242insCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCT	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKNOX1_chr21_42969562_43038931	42970236	T T	TTTCACCA others(95): Show TTTCACCATGTTGCCCAGGCCAAGAGTTTGAGACCAGCCTGGTCAGCAAG GTGAAATCCCGCCTCTACTAAAAATCAATTTTTGTATTTTTAGTAGAATC GGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0176 a0001c0001t0005g0176	1	360	0.0028	102	c.-44 others(113): Show c.-4485_-4484insTTCACCATGTTGCCCAGGCCAAGAGTTTGAGACC AGCCTGGTCAGCAAGGTGAAATCCCGCCTCTACTAAAAATCAATTTTTGT ATTTTTAGTAGAATCGGG	PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding		4325		chr21	TogoVar
PLA2G4A_chr1_186823949_186993981	186912706	T T	TCATATAT others(95): Show TCATATATATGTATATTTATATATACATATATATACATATATATGTATAT TTATATATACATATATATACATATATATGTATATTTATATATACATATAT ATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03491.hp1 HG03516.hp1 others(1): Show HG02647.hp1 HG03491.hp1 HG03516.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0254 others(1): Show a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0254 a0001c0001t0001g0271	4	251	0.0159	102	c.558 others(119): Show c.558+1366_558+1367insTTATATATACATATATATACATATATAT GTATATTTATATATACATATATATACATATATATGTATATTTATATATAC ATATATATACATATATATGTATAT	PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLCXD1_chrX_276381_308356	281041	G G	GAGGCCGT others(95): Show GAGGCCGTGCAGGGGGAAGGGGGGGCCGTGCAGGGGGAAGGGAGGCCGTG CAGGGGGAAGGGGGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGG GGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0057 a0001c0003t0057	a0001c0003t0057g0104 a0001c0003t0057g0104	1	107	0.0093	102	c.-66 others(111): Show c.-665_-664insAGGCCGTGCAGGGGGAAGGGGGGGCCGTGCAGGGGG AAGGGAGGCCGTGCAGGGGGAAGGGGGGCCGTGCAGGGGGAAGGGAGGCC GTGCAGGCAGAGGGGA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		339		chrX	TogoVar
PLD4_chr14_104919879_104938236	104933657	C C	CGGGGCTG others(95): Show CGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGACCCGCGGCTGAGGGGAC GGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGG GAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 NA19030.hp2 HG00639.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	2	419	0.0048	102	c.69 others(111): Show c.693_*694insGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGACCCG CGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGGG GAGGGCGGGAGGGGAG	PLD4	ENSG00000166428.14	transcript	ENST00000392593.9	protein_coding		422		chr14	TogoVar
PLD4_chr14_104919879_104938236	104933741	C C	CGGGAGGG others(95): Show CGGGAGGGCGGGAGGCGACCCGGGGCTGAGTGAGGGGAGGGTGGGAGGGG AGCGGGGCTGAGGGGACCGGGAGGGCGGGAGGGGACCTGCGACTGAGGGG ACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG02451.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0004 a0001c0001t0001g0006	2	206	0.0097	102	c.77 others(111): Show c.777_*778insGGGAGGGCGGGAGGCGACCCGGGGCTGAGTGAGGGG AGGGTGGGAGGGGAGCGGGGCTGAGGGGACCGGGAGGGCGGGAGGGGACC TGCGACTGAGGGGACA	PLD4	ENSG00000166428.14	transcript	ENST00000392593.9	protein_coding		506		chr14	TogoVar
PLVAP_chr19_17346455_17382342	17349171	T T	TTTCTTTC others(95): Show TTTCTTTCTTTCTTTCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	429	0.0023	102	c.31 others(113): Show c.3190_*3191insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA GAAGAAAGAAAGAAAGAA	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2283		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17349186	C C	CTTTCTTT others(95): Show CTTTCTTTCTTTCTTTCTTCTTCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	416	0.0024	102	c.31 others(113): Show c.3175_*3176insAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGAAG AAGAAAGAAAGAAAGAAA	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2268		chr19	TogoVar
PNLDC1_chr6_159795276_159825704	159816140	G G	GCACACAC others(95): Show GCACACACCCCTCCCCACCCACCCGCCACACCCCTCCCCTCCCCCCCACC TCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCACACCCCTCCCCGC CCC	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	135	0.0074	102	c.106 others(119): Show c.1060+108_1060+109insACACACCCCTCCCCACCCACCCGCCACA CCCCTCCCCTCCCCCCCACCTCCCCCTGCCCCACCCACACCCCTCCCTGC CCCCCCACACCCCTCCCCGCCCCC	PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNLDC1_chr6_159795276_159825704	159816140	G G	GCCACACC others(95): Show GCCACACCCCCTCCCCACCCACCCGCCACACCCCTCCCCTCCCCCCCACC TCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCACACCCCTCCCCGC CCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18960.hp2 HG01496.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	2	136	0.0147	102	c.106 others(119): Show c.1060+116_1060+117insCTCCCCACCCACCCGCCACACCCCTCCC CTCCCCCCCACCTCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCAC ACCCCTCCCCGCCCCCCACACCCC	PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNLDC1_chr6_159795276_159825704	159816140	G G	GCCACACC others(95): Show GCCACACCCCTCCCCACCCACCCCGCCACACCCCTCCCCTCCCCCCCACC TCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCACACCCCTCCCCGC CCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	135	0.0074	102	c.106 others(119): Show c.1060+125_1060+126insACCCCGCCACACCCCTCCCCTCCCCCCC ACCTCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCACACCCCTCCC CGCCCCCCACACCCCTCCCCACCC	PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNLDC1_chr6_159795276_159825704	159816140	G G	GCCACACC others(95): Show GCCACACCCCTCCCCACCCACCCGCCACACCCCTCCCCTCCCCCCCACCT CCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCACACCCCTCCCCGCC CCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02074.hp2 NA18985.hp1 others(2): Show HG01175.hp2 HG02074.hp2 NA18985.hp1 NA19002.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0057 a0001c0001t0001g0087 a0001c0001t0001g0123 others(2): Show a0001c0001t0001g0057 a0001c0001t0001g0087 a0001c0001t0001g0123 a0001c0001t0001g0142 a0001c0002t0001g0207	5	139	0.0360	102	c.106 others(119): Show c.1060+125_1060+126insACCCGCCACACCCCTCCCCTCCCCCCCA CCTCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCACACCCCTCCCC GCCCCCCCACACCCCTCCCCACCC	PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNLDC1_chr6_159795276_159825704	159816140	G G	GCCACACC others(95): Show GCCACACCCCTCCCCACCCACCCGCCACACCCCTCCCCTCCCCCCCACCT CCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCCACACCCCTCCCCGC CCC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	135	0.0074	102	c.106 others(119): Show c.1060+125_1060+126insACCCGCCACACCCCTCCCCTCCCCCCCA CCTCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCCACACCCCTCCC CGCCCCCCACACCCCTCCCCACCC	PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNLDC1_chr6_159795276_159825704	159816140	G G	GCCACACC others(95): Show GCCACACCCCTCCCCACCCACCCGCCACACCCCTCCCCTCCCCCCCCACC TCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCACACCCCTCCCCGC CCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG01099.hp1 others(7): Show HG00140.hp2 HG00423.hp1 HG01099.hp1 HG01192.hp2 HG01243.hp1 HG01496.hp1 HG02572.hp1 HG03516.hp2 HG03704.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0027 a0001c0001t0001g0112 a0001c0001t0001g0124 others(6): Show a0001c0001t0001g0027 a0001c0001t0001g0112 a0001c0001t0001g0124 a0001c0001t0002g0186 a0001c0001t0003g0086 a0001c0002t0001g0151 a0001c0002t0001g0156 a0001c0002t0001g0194 a0001c0002t0001g0247	10	144	0.0694	102	c.106 others(119): Show c.1060+125_1060+126insACCCGCCACACCCCTCCCCTCCCCCCCC ACCTCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCACACCCCTCCC CGCCCCCCACACCCCTCCCCACCC	PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNLDC1_chr6_159795276_159825704	159816155	A A	ACCCACCC others(95): Show ACCCACCCGCCACACCCCTCCCCTCCCCCCCACCTCCCCCTGCCCCACCC ACACCCCTCCCTGCCCCCCCACACCCCTCCCCGCCCCCCACACCCCTCCC CAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00544.hp2 others(24): Show HG00280.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG01099.hp2 HG01169.hp2 HG01515.hp2 HG01928.hp2 HG01934.hp1 HG01978.hp2 HG02055.hp1 HG02080.hp2 HG02135.hp1 HG02572.hp2 HG02809.hp1 HG03209.hp2 HG03669.hp2 HG03927.hp1 HG04204.hp1 NA18951.hp1 NA18957.hp1 NA18967.hp2 NA18969.hp2 NA19005.hp2 NA19009.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0005t0001	a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0064 others(18): Show a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0254 a0001c0001t0001g0263 a0001c0002t0001g0008 a0001c0002t0001g0090 a0001c0002t0001g0215 a0001c0002t0001g0227 a0001c0002t0001g0238 a0001c0002t0001g0246 a0001c0002t0004g0192 a0001c0005t0001g0025	27	289	0.0934	102	c.106 others(119): Show c.1060+125_1060+126insACCCGCCACACCCCTCCCCTCCCCCCCA CCTCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCACACCCCTCCCC GCCCCCCACACCCCTCCCCACCCC	PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA7_chr9_137454952_137555402	137518311	C C	CCACTCCA others(95): Show CCACTCCATCCCCCACTCACTCACTCCACTCTGCTCACTCCATCCCCCAC TCACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTCACTCCACTCT GCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03471.hp1 NA18906.hp2 HG03225.hp2 HG03471.hp1 NA18906.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0155 a0002c0004t0001g0171 a0002c0004t0001g0180 a0002c0004t0001g0155 a0002c0004t0001g0171 a0002c0004t0001g0180	3	186	0.0161	102	c.108 others(121): Show c.1084+1605_1084+1606insAGCAGAGTGGAGTGAGTGAGTGGGGG ATGGAGTGAGCAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGAGCAGAGT GGAGTGAGTGAGTGGGGGATGGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
POLB_chr8_42333494_42376808	42347249	G G	GGAATTAC others(95): Show GGAATTACTCCTCAGTAATTCTAGAAATTATTCTAGAATTACTCCTCAGT AATTCTAGAAATTATTCTAGAATTACTCCTCAGTAATTCTAGAAATTATT CTA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01169.hp1 HG01261.hp2 others(25): Show HG01074.hp2 HG01169.hp1 HG01261.hp2 HG01978.hp1 HG02040.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02922.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03704.hp1 NA18522.hp1 NA18906.hp2 NA18941.hp1 NA18952.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0032 others(23): Show a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0001g0097 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0158 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0245 a0001c0001t0001g0252 a0001c0001t0001g0270 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148	28	86	0.3256	102	c.187 others(119): Show c.187-1662_187-1561dupATTACTCCTCAGTAATTCTAGAAATTAT TCTAGAATTACTCCTCAGTAATTCTAGAAATTATTCTAGAATTACTCCTC AGTAATTCTAGAAATTATTCTAGA	POLB	ENSG00000070501.12	transcript	ENST00000265421.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
POLG_chr15_89311320_89339824	89325177	A A	AGTGAGAG others(95): Show AGTGAGAGTGAGTGAGTGAGTGAGAGTGAGTGAGTGAGTGAGAGAGTGAG TGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGAGAGTG AGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	396	0.0025	102	c.194 others(119): Show c.1949+272_1949+273insACTCACTCTCTCACTCACTCTCTCACTC TCTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCAC TCTCACTCACTCACTCACTCTCAC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
POLG_chr15_89311320_89339824	89325211	T T	TGAGTGAG others(95): Show TGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTG AGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAG TGA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	387	0.0026	102	c.194 others(119): Show c.1949+238_1949+239insTCACTCACTCACTCACTCACTCACTCTC TCACTCACTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTC TCTCACTCACTCTCTCACTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
POLR2E_chr19_1081574_1100375	1085483	T T	TCTGTCTG others(95): Show TCTGTCTGTCCCTCCCCTTGTCTCTCCTCCATCTCTCCTGTCTCTCCCCA TCTCTCCTGTCTCTCCATCTCTCTCCCCCCTCTCCTGTCTCTCCCCATCT CTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0170 a0001c0001t0020g0170	1	439	0.0023	102	c.31 others(113): Show c.3150_*3251dupGAGAGATGGGGAGAGACAGGAGAGGGGGGAGAGA GATGGAGAGACAGGAGAGATGGGGAGAGACAGGAGAGATGGAGGAGAGAC AAGGGGAGGGACAGACAG	POLR2E	ENSG00000099817.12	transcript	ENST00000615234.5	protein_coding		1090		chr19	TogoVar
POR_chr7_75910155_75991855	75988926	T T	TGGGGGGG others(95): Show TGGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCGGG GAGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGGTGTGGAGGGGAAGGCGG GGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0225 a0001c0003t0001g0225	1	172	0.0058	102	c.24 others(113): Show c.2445_*2446insGGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGT GGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGGTG TGGAGGGGAAGGCGGGGA	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2072		chr7	TogoVar
PPFIA2_chr12_81252975_81764350	81642703	T T	TGTATATA others(95): Show TGTATATATTATATACATACATGTATGTATATATTATATACATACATGTA TGTATATATTATATACATACACGTGTATGTATATATTATATACATACATG TAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	77	0.0130	102	c.303 others(121): Show c.303+34087_303+34088insGTACATGTATGTATATAATATATACA TACACGTGTATGTATATAATATATACATACATGTATGTATATAATATATA CATACATGTATGTATATAATATATAC	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PPM1D_chr17_60595193_60671280	60645498	G G	GTGTGTAT others(95): Show GTGTGTATGTGTATATATATATGTGTATATATATGTATATATATATGTGT ATATATATGTATATATATGTGTATATATATGTATATATATATGTGTATAT ATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0091 a0001c0003t0008g0091	1	175	0.0057	102	c.827 others(119): Show c.827-2393_827-2392insGTGTATGTGTATATATATATGTGTATAT ATATGTATATATATATGTGTATATATATGTATATATATGTGTATATATAT GTATATATATATGTGTATATATAT	PPM1D	ENSG00000170836.13	transcript	ENST00000305921.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
PPP2R3B_chrX_328933_391907	340667	T T	TCCCTGGG others(95): Show TCCCTGGGCCGTCCTCTCGCCCGTCCGTCCCCTCACCCTGGGCCGTCCTC TCGCCCGTCCGTCCCCTCTCCCTGGGCCGTCCTCTCGCCCGTCCGTCCCC TCA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0008 a0004c0010t0008	a0004c0010t0008g0024 a0004c0010t0008g0024	1	14	0.0714	102	c.135 others(117): Show c.1351+97_1351+98insTGAGGGGACGGACGGGCGAGAGGACGGCCC AGGGAGAGGGGACGGACGGGCGAGAGGACGGCCCAGGGTGAGGGGACGGA CGGGCGAGAGGACGGCCCAGGG	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	10/12			chrX	TogoVar
PPP2R3B_chrX_328933_391907	340676	C C	CGTCCTCT others(95): Show CGTCCTCTCGCCCGTCCGTCCCCTCACCCTGGGCCGTCCTCTCGCCCGTC CGTCCCCTCTCCCTGGGCCGTCCTCTCGCCCGTCCGTCCCCTCACCCTGG GCT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0004 a0001c0004t0003g0004	1	24	0.0417	102	c.135 others(117): Show c.1351+88_1351+89insAGCCCAGGGTGAGGGGACGGACGGGCGAGA GGACGGCCCAGGGAGAGGGGACGGACGGGCGAGAGGACGGCCCAGGGTGA GGGGACGGACGGGCGAGAGGAC	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	10/12			chrX	TogoVar
PPP2R3B_chrX_328933_391907	340719	G G	GCCCGTCC others(95): Show GCCCGTCCGTCCCCTCTCCCTGGGCCGTCCTCTCGCCCGTCCGTCCCCTC ACCCTGGGCCGTCCTCTCGCCCGTCCGTCCCCTCACCCTGGGCCGTCCTC TCA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0005 a0005c0011t0005	a0005c0011t0005g0025 a0005c0011t0005g0025	1	14	0.0714	102	c.135 others(117): Show c.1351+45_1351+46insTGAGAGGACGGCCCAGGGTGAGGGGACGGA CGGGCGAGAGGACGGCCCAGGGTGAGGGGACGGACGGGCGAGAGGACGGC CCAGGGAGAGGGGACGGACGGG	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	10/12			chrX	TogoVar
PPP6R2_chr22_50338327_50450090	50344809	C C	CCCCAGTC others(95): Show CCCCAGTCAGTGCCCCCCAGTCAGTGCCCCCTCCAGTCAATTCCCCCTAG TCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCTCCTCCAGTCAG TTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03669.hp1 NA18747.hp1 HG02015.hp1 HG03669.hp1 NA18747.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0003 a0012c0022 a0001c0001 a0001c0003 a0012c0022	a0001c0001t0007 a0001c0003t0002 a0012c0022t0002 a0001c0001t0007 a0001c0003t0002 a0012c0022t0002	a0001c0001t0007g0200 a0001c0003t0002g0191 a0012c0022t0002g0208 a0001c0001t0007g0200 a0001c0003t0002g0191 a0012c0022t0002g0208	3	335	0.0090	102	c.-14 others(121): Show c.-148+1262_-148+1263insAGTCAGTGCCCCCCAGTCAGTGCCCC CTCCAGTCAATTCCCCCTAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAG TCAGTGCCTCCTCCAGTCAGTTTCCC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRKCA_chr17_66297613_66815743	66798501	T T	TGGTGGTG others(95): Show TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGTGGTAATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGT GAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0028 a0001c0002t0006g0028	1	166	0.0060	102	c.185 others(121): Show c.1855-5365_1855-5364insGTGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGGTGGTGGTGGTAATGGTGGTGGTGATGGTGATGG TGGTGGTGGTGGTGGTGACGGTGGTG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66798539	A A	ATGGTGGT others(95): Show ATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGGTGATGGTAATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGA TGG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0148 a0001c0001t0099g0148	1	116	0.0086	102	c.185 others(121): Show c.1855-5334_1855-5333insTGGTGGTGGTGGTGATGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGATGG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16			chr17	TogoVar
PRKCA_chr17_66297613_66815743	66798734	A A	ACGGTGGT others(95): Show ACGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGA CGG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG06807.hp1 HG02809.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0060 a0001c0001t0009 a0001c0001t0060	a0001c0001t0009g0092 a0001c0001t0060g0154 a0001c0001t0009g0092 a0001c0001t0060g0154	2	98	0.0204	102	c.185 others(121): Show c.1855-5139_1855-5138insCGGTGGTGGTGGTGGTGGTGGTGACG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGT GGTGGTGGTGGTGACGGTGGTGACGG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16			chr17	TogoVar
PRKCA_chr17_66297613_66815743	66798849	T T	TGGTGACG others(95): Show TGGTGACGGTGGTGACGGTGGTGACGGTGGTGGTGGTGGTGACGGTGGTG GTGGTGGTGACGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGT GAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0024 a0001c0006t0024	a0001c0006t0024g0137 a0001c0006t0024g0137	1	175	0.0057	102	c.185 others(121): Show c.1855-5020_1855-5019insACGGTGGTGACGGTGGTGACGGTGGT GGTGGTGGTGACGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGACGG TGGTGGTGGTGGTGGTGGTGACGGTG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2121728	G G	GTAGTTAT others(95): Show GTAGTTATTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTGGTTAGGG TCGTGGTGGTAGTTATTTAGGGTCATGGTGGTGGTTAGGGTCGTGGTGGT AGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(34): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG01169.hp2 HG01243.hp1 HG01256.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01978.hp1 HG02004.hp1 HG02257.hp1 HG02257.hp2 HG02300.hp1 HG02486.hp1 HG02622.hp2 HG02698.hp2 HG02723.hp1 HG03239.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG04184.hp2 HG04228.hp1 NA18967.hp1 NA19005.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0003c0008	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0006t0001 a0003c0008t0001	a0001c0001t0001g0107 a0001c0001t0001g0172 a0001c0001t0001g0178 others(34): Show a0001c0001t0001g0107 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0201 a0001c0001t0001g0257 a0001c0002t0001g0166 a0001c0002t0001g0203 a0001c0002t0001g0233 a0001c0002t0002g0032 a0001c0002t0002g0035 a0001c0003t0001g0062 a0001c0003t0001g0072 a0001c0003t0001g0088 a0001c0003t0001g0110 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0136 a0001c0003t0001g0139 a0001c0003t0001g0141 a0001c0003t0001g0147 a0001c0003t0001g0196 a0001c0003t0001g0250 a0001c0003t0001g0255 a0001c0003t0001g0258 a0001c0003t0001g0262 a0001c0003t0001g0263 a0001c0003t0001g0264 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0003t0001g0283 a0001c0003t0002g0020 a0001c0003t0003g0184 a0001c0003t0003g0212 a0001c0006t0001g0131 a0003c0008t0001g0282	37	252	0.1468	102	c.335 others(121): Show c.335-13532_335-13531insGTTATTTAGGGTCACGGTGGTGGTTA GGGTCGTGGTGGTGGTTAGGGTCGTGGTGGTAGTTATTTAGGGTCATGGT GGTGGTTAGGGTCGTGGTGGTAGTTA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123661	G G	GGCTGTAG others(95): Show GGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCA TGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02080.hp1 HG00558.hp2 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0100 a0001c0002t0001g0096 a0001c0002t0001g0100	2	277	0.0072	102	c.335 others(121): Show c.335-11600_335-11599insCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133793	T T	TCTCTCTC others(95): Show TCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTC TGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCT CCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01256.hp1 HG01258.hp2 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	3	223	0.0135	102	c.23 others(113): Show c.2361_*2362insCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTC CACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2081		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133822	T T	TCTCTCTC others(95): Show TCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTC TGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCT CCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	220	0.0045	102	c.23 others(113): Show c.2390_*2391insCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTC CACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCC TCCCTCTCTCCACCTCCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2110		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133822	T T	TCTCTCTC others(95): Show TCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCT CCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	220	0.0045	102	c.23 others(113): Show c.2390_*2391insCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCC TCCCTCTCTCCACCTCCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2110		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CCCTCCCT others(95): Show CCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCC CTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCT CTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	73	0.0137	102	c.23 others(113): Show c.2397_*2398insCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCT CCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCT CCACCTCCCCTCTCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CTTCCTCC others(95): Show CTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC CTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCT CTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	73	0.0137	102	c.23 others(113): Show c.2397_*2398insTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCT CCACCTCCCCTCTCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PRRX1_chr1_170659131_170744421	170682343	T T	TAAGCCTG others(95): Show TAAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGAC AGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA AAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01192.hp1 HG01261.hp2 others(29): Show HG00408.hp2 HG01192.hp1 HG01261.hp2 HG01433.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02027.hp2 HG02129.hp1 HG02148.hp1 NA18940.hp2 NA18969.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18990.hp2 NA18995.hp1 NA19000.hp2 NA19001.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19056.hp2 NA19064.hp2 NA19072.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0005 a0001c0001t0002g0047 a0001c0001t0002g0080 others(28): Show a0001c0001t0002g0005 a0001c0001t0002g0047 a0001c0001t0002g0080 a0001c0001t0002g0088 a0001c0001t0002g0113 a0001c0001t0002g0129 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0202 a0001c0001t0002g0204 a0001c0001t0002g0211 a0001c0001t0002g0215 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0247 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0280 a0001c0001t0002g0293 a0001c0001t0015g0236	32	307	0.1042	102	c.241 others(121): Show c.241+17887_241+17888insCCTGCAGTGAGCCGAGATTGCGCCAC TGCACTCCAGCCTGGGCGACAGCAAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGAAAAAAG	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRX1_chr1_170659131_170744421	170682343	T T	TAAGCCTG others(95): Show TAAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGAC AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02280.hp2 HG02630.hp1 HG01109.hp1 HG02280.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0025 a0001c0001t0005g0031 a0001c0001t0005g0017 a0001c0001t0005g0025 a0001c0001t0005g0031	3	278	0.0108	102	c.241 others(121): Show c.241+17887_241+17888insCCTGCAGTGAGCCGAGATTGCGCCAC TGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAG	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRX1_chr1_170659131_170744421	170682343	T T	TAAGCCTG others(95): Show TAAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGAC AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA AAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG00738.hp1 others(24): Show HG00280.hp1 HG00642.hp1 HG00738.hp1 HG01169.hp1 HG01255.hp2 HG01346.hp1 HG01515.hp2 HG01516.hp2 HG01993.hp2 HG02523.hp2 HG02738.hp1 HG02970.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 NA18944.hp2 NA18945.hp1 NA18955.hp2 NA18959.hp1 NA18962.hp1 NA18971.hp2 NA19006.hp1 NA19066.hp1 NA19067.hp1 NA19085.hp1 NA19240.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0030 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0030 a0001c0001t0036	a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0105 others(22): Show a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0105 a0001c0001t0002g0109 a0001c0001t0002g0132 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0166 a0001c0001t0002g0186 a0001c0001t0002g0198 a0001c0001t0002g0212 a0001c0001t0002g0226 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0237 a0001c0001t0002g0297 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0003g0214 a0001c0001t0030g0042 a0001c0001t0036g0167	27	302	0.0894	102	c.241 others(121): Show c.241+17887_241+17888insCCTGCAGTGAGCCGAGATTGCGCCAC TGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGAAAAAAG	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTP4A3_chr8_141387021_141437454	141429819	G G	GGTCCCCG others(95): Show GGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCTGGTGGCGGGGACAGGGTGAGCGCACAGCC CAC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18983.hp1 NA19079.hp1 NA18747.hp1 NA18983.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0218 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0218	3	322	0.0093	102	c.405 others(119): Show c.405-1039_405-1038insTGGTGGCGGGGACAGGGTGAGCGCACAG CCCACGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACA GTCCGGGTCCCCGCTGTAAGGACC	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTPN22_chr1_113808811_113876712	113871399	C C	CTTTTTTT others(95): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	356	0.0028	102	c.87+ others(115): Show c.87+137_87+138insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	PTPN22	ENSG00000134242.16	transcript	ENST00000359785.10	protein_coding	1/20			chr1	TogoVar
PTPRT_chr20_42067756_43194906	42993449	T T	TATATACA others(95): Show TATATACACACACATATATATGTGTATATATATATACATACACATATATA TGTGTATGTATATATATATACACATATATATGTGTGTGTATATATATATA CAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0001 a0002c0004t0002g0001	1	48	0.0208	102	c.89- others(121): Show c.89-107518_89-107517insGTGTATATATATATACACACACATAT ATATGTGTATATATATATACATACACATATATATGTGTATGTATATATAT ATACACATATATATGTGTGTGTATAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42993449	T T	TATATACA others(95): Show TATATACACACATATATATATGTGTATATATATATACATACACATATATA TGTGTATGTATATATATATACACATATATATGTGTGTGTATATATATATA CAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0037 a0001c0008t0005g0037	1	48	0.0208	102	c.89- others(121): Show c.89-107518_89-107517insGTGTATATATATATACACACACATAT ATATGTGTATATATATATACATACACATATATATGTGTATGTATATATAT ATACACATATATATATGTGTGTATAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
QPCT_chr2_37339630_37378322	37347202	T T	TAACATAT others(95): Show TAACATATATATAACATATATATAACATATATATAACATATATATAACAT CTATATAACATCTATATAACATCTATATAACATATATATAACATATATAT AAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01934.hp2 HG02083.hp2 others(19): Show HG00544.hp2 HG01934.hp2 HG02083.hp2 HG02129.hp1 NA18941.hp2 NA18946.hp1 NA18952.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18984.hp1 NA18988.hp2 NA18989.hp2 NA18994.hp1 NA19056.hp2 NA19070.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0002 a0004c0005t0001 a0002c0002t0002 a0004c0005t0001	a0002c0002t0002g0010 a0002c0002t0002g0037 a0002c0002t0002g0039 others(13): Show a0002c0002t0002g0010 a0002c0002t0002g0037 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0279 a0002c0002t0002g0283 a0002c0002t0002g0288 a0004c0005t0001g0278 a0004c0005t0001g0284 a0004c0005t0001g0285 a0004c0005t0001g0289	22	409	0.0538	102	c.120 others(119): Show c.120+2352_120+2353insACATATATATAACATATATATAACATAT ATATAACATATATATAACATCTATATAACATCTATATAACATCTATATAA CATATATATAACATATATATAACA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar

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