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
PROSER2_chr10_11818356_11877277	11842931	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG03654.hp1 HG02148.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0043 a0001c0010t0001g0064 a0001c0001t0001g0043 a0001c0010t0001g0064	2	7	0.2857	30	c.-81 others(47): Show c.-81-9039_-81-9038insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRPF31_chr19_54110754_54136713	54133878	C C	CCCCTCTC others(23): Show CCCCTCTCTCCACCTCCCCTCACTCCACCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	217	0.0046	30	c.24 others(41): Show c.2446_*2447insCCCTCTCTCCACCTCCCCTCACTCCACCTT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2166		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133893	C C	CCCTCACT others(23): Show CCCTCACTCCTCCCTCTCTCCTCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	223	0.0045	30	c.24 others(41): Show c.2461_*2462insCCTCACTCCTCCCTCTCTCCTCCCTCCCCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2181		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133903	C C	CACCTTCC others(23): Show CACCTTCCCTCTCTCAACCTCCCCTCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0090 a0001c0009t0001g0090	1	225	0.0044	30	c.24 others(41): Show c.2471_*2472insACCTTCCCTCTCTCAACCTCCCCTCCCTCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2191		chr19	TogoVar
PRPF38B_chr1_108687310_108707928	108689608	T T	TAACATTA others(23): Show TAACATTATATATATATATATATATAATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	5	0.2000	30	c.-29 others(41): Show c.-2984_-2983insAACATTATATATATATATATATATAATGTG	PRPF38B	ENSG00000134186.12	transcript	ENST00000370025.9	protein_coding		2701		chr1	TogoVar
PRPH2_chr6_42691598_42727597	42705597	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01952.hp2 HG01928.hp1 HG01952.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0002 a0003c0005t0003 a0001c0002t0002 a0003c0005t0003	a0001c0002t0002g0233 a0003c0005t0003g0024 a0001c0002t0002g0233 a0003c0005t0003g0024	2	378	0.0053	30	c.582 others(45): Show c.582-987_582-986insATATATATATATATATATATATATATATAT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA19085.hp1 NA18968.hp2 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0287 a0001c0002t0001g0317 a0001c0002t0001g0287 a0001c0002t0001g0317	2	218	0.0092	30	c.582 others(45): Show c.582-989_582-988insATATATATATATATATATATATATATTTTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	217	0.0046	30	c.582 others(45): Show c.582-989_582-988insATATATATATATATATATATATATATATTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH_chr12_49290147_49303686	49299542	T T	TAATAATA others(23): Show TAATAATAATAAGAAGAAGAAGAAGAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0007 a0002c0005t0001g0007	1	136	0.0074	30	c.11 others(41): Show c.1189_*1190insAATAATAATAAGAAGAAGAAGAAGAAGAAG	PRPH	ENSG00000135406.15	transcript	ENST00000257860.9	protein_coding		857		chr12	TogoVar
PRPS1L1_chr7_18021770_18032846	18030651	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00673.hp2 NA18944.hp2 others(1): Show HG00558.hp1 HG00673.hp2 NA18944.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	159	0.0252	30	c.-28 others(41): Show c.-2870_-2869insGTATATATATATATATATATATATATATAT	PRPS1L1	ENSG00000229937.9	transcript	ENST00000506618.5	protein_coding		2806	WARNING_TRANSCRIPT_NO_START_CODON	chr7	TogoVar
PRPS1_chrX_107623510_107656026	107623571	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03195.hp1 NA19043.hp1 others(1): Show HG01891.hp2 HG03195.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0021 a0001c0001t0001g0047 a0001c0001t0001g0056 others(1): Show a0001c0001t0001g0021 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0004g0126	4	40	0.1000	30	c.-50 others(41): Show c.-5058_-5057insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	PRPS1	ENSG00000147224.13	transcript	ENST00000372435.10	protein_coding		4938		chrX	TogoVar
PRR14L_chr22_31676347_31755132	31677604	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0001 a0002c0002t0008g0001	1	155	0.0065	30	c.79 others(41): Show c.7922_*7923insATATATATATATATATATATATATTTTTTT	PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding		3742		chr22	TogoVar
PRR23A_chr3_138998962_139011268	139010701	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	62	0.0161	30	c.-44 others(41): Show c.-4434_-4433insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PRR23A	ENSG00000206260.4	transcript	ENST00000383163.4	protein_coding		4434		chr3	TogoVar
PRR23A_chr3_138998962_139011268	139010719	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	369	0.0027	30	c.-44 others(41): Show c.-4452_-4451insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PRR23A	ENSG00000206260.4	transcript	ENST00000383163.4	protein_coding		4452		chr3	TogoVar
PRR27_chr4_70149237_70171609	70160443	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	25	0.0400	30	c.649 others(47): Show c.649-1142_649-1141insCTCTCTCTCTCTCTCTGTGTGTGTGTGT GT	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR27_chr4_70149237_70171609	70161156	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0233 a0001c0001t0004g0233	1	49	0.0204	30	c.649 others(45): Show c.649-406_649-405insTATATATATATATATATATATATATATATA	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR27_chr4_70149237_70171609	70161175	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0260 a0001c0001t0080g0260	1	442	0.0023	30	c.649 others(45): Show c.649-406_649-405insTATATATATATATATATATATATACATATA	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR5L_chr11_36291288_36470204	36350908	A A	ATATATAT others(23): Show ATATATATATATTTATATATATTTATATATT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	270	0.0037	30	c.-12 others(51): Show c.-125-50077_-125-50048dupTTATATATATTTATATATTTATAT ATATAT	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRR5L_chr11_36291288_36470204	36350946	A A	ATTTATAT others(23): Show ATTTATATATATTTATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0215 a0002c0003t0006g0215	1	102	0.0098	30	c.-12 others(51): Show c.-125-50050_-125-50049insTTATATATATTTATATATTTATAT ATATTT	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRR5L_chr11_36291288_36470204	36413700	T T	TTTTTATT others(23): Show TTTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03098.hp2 HG02572.hp1 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0016 a0001c0001t0003 a0002c0003t0016	a0001c0001t0003g0142 a0002c0003t0016g0114 a0001c0001t0003g0142 a0002c0003t0016g0114	2	243	0.0082	30	c.246 others(47): Show c.246-5528_246-5527insTTATTTTATTTTATTTTATTTTATTTTA TT	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTTTT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0056 a0001c0001t0035g0056	1	92	0.0109	30	c.-51 others(47): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTTTTT TT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131420495	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0038 a0002c0038	a0002c0038t0002 a0002c0038t0002	a0002c0038t0002g0003 a0002c0038t0002g0003	1	170	0.0059	30	c.-51 others(47): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	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(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0130 a0004c0004t0004g0130	1	67	0.0149	30	c.112 others(47): Show c.1120+766_1120+767insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2C_chr1_171480530_171598511	171569575	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00544.hp2 others(17): Show HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00733.hp1 HG01074.hp2 HG01516.hp1 HG01952.hp2 HG02080.hp1 HG02129.hp2 HG02293.hp2 HG03239.hp1 HG03486.hp1 HG03669.hp2 NA18950.hp1 NA18966.hp1 NA18971.hp2 NA18973.hp2 NA18979.hp2 NA19054.hp2 NA20300.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0002 a0004c0004 a0001c0001 a0003c0002 a0004c0004	a0001c0001t0001 a0001c0001t0006 a0003c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0006 a0003c0002t0003 a0004c0004t0001	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 others(17): Show a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0107 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0269 a0001c0001t0006g0182 a0003c0002t0003g0194 a0003c0002t0003g0204 a0003c0002t0003g0205 a0003c0002t0003g0227 a0003c0002t0003g0230 a0003c0002t0003g0235 a0003c0002t0003g0237 a0004c0004t0001g0045	20	84	0.2381	30	c.665 others(49): Show c.6651+1254_6651+1255insATATATATATATATATATATATATAT ATAT	PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRG1_chrX_37344364_37462291	37376549	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp1 HG03453.hp2 HG02717.hp1 HG02818.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0079 a0001c0001t0003g0085 a0001c0001t0004g0203 a0001c0001t0002g0079 a0001c0001t0003g0085 a0001c0001t0004g0203	3	125	0.0240	30	c.-42 others(49): Show c.-42+27155_-42+27156insATATATATATATATATATATATATAT ATAT	PRRG1	ENSG00000130962.18	transcript	ENST00000378628.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
PRRG1_chrX_37344364_37462291	37376551	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01070.hp2 HG01123.hp1 others(12): Show HG00673.hp1 HG01070.hp2 HG01123.hp1 HG02040.hp1 HG04199.hp1 HG04204.hp1 NA18940.hp1 NA18977.hp1 NA18984.hp1 NA18989.hp1 NA18995.hp1 NA19055.hp1 NA19060.hp1 NA19086.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0120 others(12): Show a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0167 a0001c0001t0001g0185	15	18	0.8333	30	c.-42 others(49): Show c.-42+27177_-42+27178insATATATATATATATATATATATATAT ATAT	PRRG1	ENSG00000130962.18	transcript	ENST00000378628.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
PRRG4_chr11_32824927_32863120	32825348	G G	GCTGGAGT others(23): Show GCTGGAGTGCAATGGCACCATCTCGGCTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	400	0.0025	30	c.-48 others(41): Show c.-4848_-4847insCTGGAGTGCAATGGCACCATCTCGGCTCAT	PRRG4	ENSG00000135378.4	transcript	ENST00000257836.4	protein_coding		4578		chr11	TogoVar
PRRT1B_chr9_131540523_131564815	131541661	T T	TTAGTTTT others(23): Show TTAGTTTTTTTATTTCTTCTGCCTGAATGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0044 a0001c0001t0031g0044	1	456	0.0022	30	c.-39 others(41): Show c.-3955_-3954insTAGTTTTTTTATTTCTTCTGCCTGAATGAA	PRRT1B	ENSG00000283526.2	transcript	ENST00000636672.2	protein_coding		3861		chr9	TogoVar
PRRX1_chr1_170659131_170744421	170664088	C C	CCTCTCTC others(23): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03098.hp2 HG01891.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0013 a0001c0001t0006 a0001c0001t0013	a0001c0001t0006g0339 a0001c0001t0013g0013 a0001c0001t0006g0339 a0001c0001t0013g0013	2	141	0.0142	30	c.-13 others(39): Show c.-131_-130insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding		42		chr1	TogoVar
PRRX1_chr1_170659131_170744421	170669425	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	1	39	0.0256	30	c.241 others(47): Show c.241+4995_241+4996insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRSS41_chr16_2793470_2810304	2795141	T T	TATACATA others(23): Show TATACATATATACATATATATACATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02976.hp1 HG03486.hp2 others(1): Show HG02559.hp1 HG02976.hp1 HG03486.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0010t0001g0015 a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0010t0001g0015	4	411	0.0097	30	c.-33 others(41): Show c.-3344_-3343insATACATATATACATATATATACATATATAC	PRSS41	ENSG00000215148.11	transcript	ENST00000399677.5	protein_coding		3328		chr16	TogoVar
PRTG_chr15_55606544_55748152	55645433	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02809.hp2 HG00741.hp2 HG02809.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0019 a0001c0001 a0012c0019	a0001c0001t0002 a0012c0019t0046 a0001c0001t0002 a0012c0019t0046	a0001c0001t0002g0240 a0012c0019t0046g0003 a0001c0001t0002g0240 a0012c0019t0046g0003	2	48	0.0417	30	c.204 others(49): Show c.2042-4226_2042-4225insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	11/19			chr15	TogoVar
PRTG_chr15_55606544_55748152	55738071	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01884.hp1 HG00741.hp2 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0248 a0001c0001t0002g0240 a0001c0001t0002g0248	2	40	0.0500	30	c.397 others(47): Show c.397+2310_397+2311insATATATATATATATATATATATATATAT AT	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	2/19			chr15	TogoVar
PRUNE2_chr9_76606376_76911114	76879903	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0139 a0002c0002t0002g0139	1	62	0.0161	30	c.37- others(47): Show c.37-25696_37-25695insAATATATATATATATATATATATATATA TA	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	1/18			chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76879903	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0137 a0001c0001t0031g0137	1	62	0.0161	30	c.37- others(47): Show c.37-25696_37-25695insAAAATATATATATATATATATATATATA TA	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	1/18			chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76879903	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0219 a0001c0001t0003g0220	2	63	0.0317	30	c.37- others(47): Show c.37-25696_37-25695insAAAAAATATATATATATATATATATATA TA	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	1/18			chr9	TogoVar
PSAT1_chr9_78292125_78335093	78299144	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0138 a0001c0002t0001g0138	1	87	0.0115	30	c.61- others(45): Show c.61-1430_61-1429insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSD2_chr5_139790808_139849466	139817939	C C	CAGAGGGA others(23): Show CAGAGGGATAAAGAGACTTCCCCACAGTCAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	274	0.0036	30	c.109 others(47): Show c.1097+379_1097+408dupAGAGGGATAAAGAGACTTCCCCACAGTC AT	PSD2	ENSG00000146005.4	transcript	ENST00000274710.4	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
PSD3_chr8_18522303_19018703	18752566	T T	TATATATA others(23): Show TATATATATAATATATATAATTATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0012 a0012	a0012c0024 a0012c0024	a0012c0024t0062 a0012c0024t0062	a0012c0024t0062g0185 a0012c0024t0062g0185	1	220	0.0045	30	c.217 others(51): Show c.2172+12882_2172+12883insTATATATATAATTATATATATTAT ATATAT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18759092	A A	ACACACAC others(23): Show ACACACACACACACACACACACACACACACT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0071 a0002c0003t0071	a0002c0003t0071g0110 a0002c0003t0071g0110	1	208	0.0048	30	c.217 others(49): Show c.2172+6356_2172+6357insAGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18759092	A A	ACACACAC others(23): Show ACACACACACACACACACACACACACACTCT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0015 a0001c0023t0015	a0001c0023t0015g0189 a0001c0023t0015g0189	1	208	0.0048	30	c.217 others(49): Show c.2172+6356_2172+6357insAGAGTGTGTGTGTGTGTGTGTGTGTG TGTG	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18916349	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0048 a0001c0002t0018g0048	1	49	0.0204	30	c.130 others(49): Show c.130+19684_130+19685insGTGTATATATATATATATATATATAT ATAT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	2/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18949244	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0161 a0001c0001t0026g0161	1	81	0.0123	30	c.22- others(47): Show c.22-13103_22-13102insATATATATATATATATATTTTTTTTTTT TT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	1/15			chr8	TogoVar
PSD4_chr2_113168971_113214391	113189351	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19030.hp2 HG02976.hp2 NA19030.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0040 a0002c0004t0054 a0002c0004t0040 a0002c0004t0054	a0002c0004t0040g0116 a0002c0004t0054g0248 a0002c0004t0040g0116 a0002c0004t0054g0248	2	151	0.0132	30	c.162 others(49): Show c.1629-3013_1629-3012insTATATATATATATATATATATATATA TATA	PSD4	ENSG00000125637.16	transcript	ENST00000245796.11	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSEN1_chr14_73131507_73228691	73151878	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0271 a0001c0001t0006g0271	1	367	0.0027	30	c.87+ others(45): Show c.87+3789_87+3790insATATATATATATATATATATATATATATAT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	136	0.0074	30	c.430 others(47): Show c.430+2096_430+2097insAAAAAAAAAAAAAAAATATATATATATA TA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSIP1_chr9_15459066_15515970	15501840	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp1 HG02897.hp1 others(2): Show HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008	a0001c0001t0005g0061 a0001c0001t0005g0062 a0001c0001t0005g0063 others(2): Show a0001c0001t0005g0061 a0001c0001t0005g0062 a0001c0001t0005g0063 a0001c0001t0006g0011 a0001c0001t0008g0023	5	101	0.0495	30	c.149 others(47): Show c.149+4720_149+4721insATATATATATATATATATATATATATAT AT	PSIP1	ENSG00000164985.15	transcript	ENST00000380733.9	protein_coding	3/15			chr9	TogoVar
PSIP1_chr9_15459066_15515970	15501866	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03669.hp1 HG04199.hp2 HG02523.hp1 HG03669.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0229 a0001c0001t0003g0261 a0001c0001t0010g0252 a0001c0001t0003g0229 a0001c0001t0003g0261 a0001c0001t0010g0252	3	265	0.0113	30	c.149 others(47): Show c.149+4694_149+4695insTTATATATATATATATATATATATATAT AT	PSIP1	ENSG00000164985.15	transcript	ENST00000380733.9	protein_coding	3/15			chr9	TogoVar
PSMA3_chr14_58239843_58277004	58254333	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA19011.hp1 HG02027.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0091 a0001c0001t0001g0042 a0001c0001t0001g0091	2	184	0.0109	30	c.228 others(47): Show c.228+2101_228+2102insATATATATATATATATATATATATATAT AT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA3_chr14_58239843_58277004	58254340	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA20752.hp1 HG03225.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0196 a0001c0001t0001g0031 a0001c0001t0001g0196	2	153	0.0131	30	c.228 others(47): Show c.228+2101_228+2102insATATATATATATATATATATATATATGT AT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar

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