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
PID1_chr2_229018973_229276287	229184955	A A	AATCCCAT others(15): Show AATCCCATATATATACTATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0150 a0001c0002t0020g0150	1	256	0.0039	22	c.31- others(39): Show c.31-28992_31-28991insATATATAGTATATATATGGGAT	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2			chr2	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(15): Show CACACACACACACACATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01192.hp2 HG01517.hp2 others(6): Show HG00558.hp1 HG01192.hp2 HG01517.hp2 HG02129.hp2 HG02148.hp2 HG03017.hp1 HG03540.hp1 NA18994.hp2 NA19011.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0029	a0001c0007 a0002c0001 a0004c0022 others(1): Show a0001c0007 a0002c0001 a0004c0022 a0029c0061	a0001c0007t0001 a0002c0001t0001 a0002c0001t0005 others(2): Show a0001c0007t0001 a0002c0001t0001 a0002c0001t0005 a0004c0022t0002 a0029c0061t0008	a0001c0007t0001g0041 a0001c0007t0001g0100 a0001c0007t0001g0121 others(6): Show a0001c0007t0001g0041 a0001c0007t0001g0100 a0001c0007t0001g0121 a0002c0001t0001g0057 a0002c0001t0001g0063 a0002c0001t0005g0008 a0002c0001t0005g0094 a0004c0022t0002g0042 a0029c0061t0008g0109	9	158	0.0570	22	c.719 others(39): Show c.7191-400_7191-399insATATATATGTGTGTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10693356	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01169.hp1 HG01981.hp1 HG01123.hp1 HG01169.hp1 HG01981.hp1	a0001 a0003 a0001 a0003	a0001c0028 a0001c0087 a0003c0012 a0001c0028 a0001c0087 a0003c0012	a0001c0028t0001 a0001c0087t0001 a0003c0012t0001 a0001c0028t0001 a0001c0087t0001 a0003c0012t0001	a0001c0028t0001g0126 a0001c0087t0001g0033 a0003c0012t0001g0098 a0001c0028t0001g0126 a0001c0087t0001g0033 a0003c0012t0001g0098	3	158	0.0190	22	c.719 others(41): Show c.7191-1995_7191-1974dupCACACACACACACACACACACA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10720234	G G	GCGTGTAT others(15): Show GCGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0088 a0001c0021t0002g0088	1	158	0.0063	22	c.503 others(41): Show c.5030-1976_5030-1975insTATATATATATATATATACACG	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	36/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10809260	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19043.hp2 HG01884.hp2 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0075 a0001c0002 a0004c0075	a0001c0002t0001 a0004c0075t0002 a0001c0002t0001 a0004c0075t0002	a0001c0002t0001g0096 a0004c0075t0002g0072 a0001c0002t0001g0096 a0004c0075t0002g0072	2	158	0.0127	22	c.918 others(39): Show c.918-2008_918-1987dupAAAAAAAAAAAAAAAAAAAAAA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	7/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886487	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02280.hp1 others(1): Show HG01167.hp2 HG01169.hp2 HG02280.hp1 HG03579.hp2	a0001 a0019 a0001 a0019	a0001c0003 a0001c0017 a0019c0030 a0001c0003 a0001c0017 a0019c0030	a0001c0003t0002 a0001c0017t0004 a0019c0030t0003 a0001c0003t0002 a0001c0017t0004 a0019c0030t0003	a0001c0003t0002g0029 a0001c0017t0004g0142 a0001c0017t0004g0143 others(1): Show a0001c0003t0002g0029 a0001c0017t0004g0142 a0001c0017t0004g0143 a0019c0030t0003g0025	4	158	0.0253	22	c.330 others(41): Show c.330-15073_330-15072insATATATATATATATATATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIGF_chr2_46575937_46622041	46598529	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	366	0.0027	22	c.438 others(39): Show c.438-5968_438-5947dupAAAAAAAAAAAAAAAAAAAAAA	PIGF	ENSG00000151665.13	transcript	ENST00000281382.11	protein_coding	4/5			chr2	TogoVar
PIGF_chr2_46575937_46622041	46620704	A A	AATAATAT others(15): Show AATAATATTATTATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	366	0.0027	22	c.-37 others(33): Show c.-3778_-3757dupAATATATATATAATAATATTAT	PIGF	ENSG00000151665.13	transcript	ENST00000281382.11	protein_coding		3664		chr2	TogoVar
PIGK_chr1_77083989_77224430	77171436	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0199 a0001c0001t0005g0199	1	366	0.0027	22	c.240 others(39): Show c.240-2063_240-2042dupTTTTTTTTTTTTTTTTTTTTTT	PIGK	ENSG00000142892.15	transcript	ENST00000370812.8	protein_coding	3/10			chr1	TogoVar
PIGL_chr17_16212210_16331411	16216786	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01258.hp1 HG02683.hp2 others(1): Show HG00642.hp1 HG01258.hp1 HG02683.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0058 a0001c0001t0002g0061 others(1): Show a0001c0001t0002g0032 a0001c0001t0002g0058 a0001c0001t0002g0061 a0001c0001t0002g0067	4	246	0.0163	22	c.-44 others(31): Show c.-441_-440insAAAAAAAAAAAAAAAAAAAAAA	PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding		423		chr17	TogoVar
PIGL_chr17_16212210_16331411	16311467	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG03239.hp1 others(6): Show HG01891.hp2 HG02055.hp1 HG03239.hp1 HG03516.hp1 HG03834.hp1 HG04115.hp1 NA18906.hp1 NA18949.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0173 a0001c0001t0001g0193 a0001c0001t0001g0194 others(6): Show a0001c0001t0001g0173 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0203 a0001c0001t0001g0217 a0001c0001t0001g0224 a0001c0001t0001g0243 a0001c0001t0004g0085 a0001c0001t0004g0086	9	246	0.0366	22	c.427 others(39): Show c.427-2066_427-2065insTTTTTTTTTTTTTTTTTTTTTT	PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PIGN_chr18_62036164_62192056	62062882	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01978.hp1 NA18945.hp2 others(3): Show HG01106.hp2 HG01978.hp1 NA18945.hp2 NA18969.hp2 NA18995.hp1 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0019 a0002c0002t0026 others(2): Show a0002c0002t0007 a0002c0002t0019 a0002c0002t0026 a0002c0002t0084 a0002c0002t0089	a0002c0002t0007g0043 a0002c0002t0007g0083 a0002c0002t0019g0109 others(3): Show a0002c0002t0007g0043 a0002c0002t0007g0083 a0002c0002t0019g0109 a0002c0002t0026g0045 a0002c0002t0084g0039 a0002c0002t0089g0092	6	342	0.0175	22	c.267 others(41): Show c.2672+9769_2672+9790dupAAAAAAAAAAAAAAAAAAAAAA	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	30/30			chr18	TogoVar
PIGQ_chr16_564968_589109	571038	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0230 a0002c0001t0001g0230	1	408	0.0025	22	c.-10 others(38): Show c.-10+991_-10+1012dupGTGTGTGTGTGTGTGTGTGTGT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGU_chr20_34555542_34682092	34603861	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG00673.hp2 others(20): Show HG00408.hp2 HG00609.hp1 HG00673.hp2 HG00738.hp2 HG01256.hp2 HG01258.hp2 HG02056.hp2 HG02132.hp1 HG02145.hp2 HG02155.hp2 HG02523.hp2 HG03669.hp1 HG04115.hp2 NA18966.hp1 NA18973.hp1 NA18980.hp1 NA18990.hp2 NA18992.hp1 NA18995.hp1 NA19004.hp1 NA19060.hp2 NA19063.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 others(20): Show a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0131	23	320	0.0719	22	c.627 others(41): Show c.627+12159_627+12180dupGTGTGTGTGTGTGTGTGTGTGT	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	7/11			chr20	TogoVar
PIGX_chr3_196707377_196741007	196735294	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0001 a0001c0001t0044g0001	1	416	0.0024	22	c.14 others(33): Show c.1401_*1422dupAAAAAAAAAAAAAAAAAAAAAA	PIGX	ENSG00000163964.18	transcript	ENST00000392391.9	protein_coding	6/6	1423	INFO_REALIGN_3_PRIME	chr3	TogoVar
PIGY_chr4_88515998_88528776	88516483	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	446	0.0022	22	c.50 others(33): Show c.5090_*5091insTTTTTTTTTTTTTTTTTTTTTT	PIGY	ENSG00000255072.2	transcript	ENST00000527353.2	protein_coding		4514		chr4	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	384	0.0026	22	c.18 others(31): Show c.185_*186insATATATATATTTTTTTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 NA20129.hp2 HG01109.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	2	384	0.0052	22	c.18 others(31): Show c.185_*186insATATATATATATATTTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112070050	A A	ACTGACTC others(15): Show ACTGACTCTAACTATTTGCTCTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	384	0.0026	22	c.813 others(37): Show c.813+364_813+385dupAAGAGCAAATAGTTAGAGTCAG	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding	5/5			chr11	TogoVar
PIK3AP1_chr10_96588315_96725514	96612950	G G	GTGTGTGT others(15): Show GTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0221 a0002c0011t0001g0221	1	256	0.0039	22	c.201 others(41): Show c.2015-3084_2015-3083insTATATATATATATACACACACA	PIK3AP1	ENSG00000155629.15	transcript	ENST00000339364.10	protein_coding	13/16			chr10	TogoVar
PIK3AP1_chr10_96588315_96725514	96628877	T T	TATATACA others(15): Show TATATACACACACACATATATAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02080.hp1 HG02976.hp1 others(1): Show HG00735.hp2 HG02080.hp1 HG02976.hp1 NA18955.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0036 a0001c0001t0001g0052 a0001c0001t0001g0064 others(1): Show a0001c0001t0001g0036 a0001c0001t0001g0052 a0001c0001t0001g0064 a0002c0002t0001g0225	4	256	0.0156	22	c.137 others(39): Show c.1376-385_1376-384insGTATATATGTGTGTGTGTATAT	PIK3AP1	ENSG00000155629.15	transcript	ENST00000339364.10	protein_coding	8/16			chr10	TogoVar
PIK3AP1_chr10_96588315_96725514	96629930	A A	AGAAGAAG others(15): Show AGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0082 a0002c0008t0003g0082	1	256	0.0039	22	c.137 others(41): Show c.1376-1438_1376-1437insCTTCTTCTTCTTCTTCTTCTTC	PIK3AP1	ENSG00000155629.15	transcript	ENST00000339364.10	protein_coding	8/16			chr10	TogoVar
PIK3AP1_chr10_96588315_96725514	96711739	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0008 a0002c0008t0008	a0002c0008t0008g0077 a0002c0008t0008g0077	1	256	0.0039	22	c.14- others(37): Show c.14-1778_14-1757dupAAAAAAAAAAAAAAAAAAAAAA	PIK3AP1	ENSG00000155629.15	transcript	ENST00000339364.10	protein_coding	1/16			chr10	TogoVar
PIK3C2B_chr1_204417633_204499805	204493524	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	302	0.0033	22	c.-85 others(37): Show c.-85+810_-85+831dupGTGTGTGTGTGTGTGTGTGTGT	PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32			chr1	TogoVar
PIK3C2G_chr12_18256518_18653416	18559821	T T	TATATATA others(15): Show TATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0113 a0002c0002t0001g0113	1	176	0.0057	22	c.359 others(41): Show c.3591-2881_3591-2880insTATATATATATATAGAGAGAGA	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIK3C2G_chr12_18256518_18653416	18559821	T T	TATATATA others(15): Show TATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0053 a0001c0004t0001g0053	1	176	0.0057	22	c.359 others(41): Show c.3591-2881_3591-2880insTATATATATATATATATAGAGA	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIK3C3_chr18_41950234_42092830	42054126	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	340	0.0029	22	c.226 others(41): Show c.2264-3712_2264-3691dupTATATATATATATATATATATA	PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr18	TogoVar
PIK3CD_chr1_9646731_9734114	9660526	T T	TTGGGAAG others(15): Show TTGGGAAGCAAGAAAAAATTACA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	318	0.0031	22	c.-13 others(41): Show c.-138+8725_-138+8746dupTGGGAAGCAAGAAAAAATTACA	PIK3CD	ENSG00000171608.18	transcript	ENST00000377346.9	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
PIK3IP1_chr22_31276600_31297488	31293414	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02257.hp1 HG01243.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	2	422	0.0047	22	c.-10 others(33): Show c.-1071_-1070insTTTTTTTTTTTTTTTTTTTTTT	PIK3IP1	ENSG00000100100.13	transcript	ENST00000215912.10	protein_coding		927		chr22	TogoVar
PIK3R1_chr5_68210756_68306821	68217653	T T	TGTGTGTG others(15): Show TGTGTGTGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0291 a0001c0001t0022g0291	1	308	0.0033	22	c.-38 others(41): Show c.-387+1705_-387+1706insTGTGTGCGCGCGCGCGCGCGCG	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68262548	A A	ATATAATG others(15): Show ATATAATGTATACATGTATACAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0128 a0002c0003t0128	a0002c0003t0128g0229 a0002c0003t0128g0229	1	308	0.0033	22	c.335 others(41): Show c.335-10842_335-10841insTATAATGTATACATGTATACAC	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15			chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68262933	A A	ATGTAGAT others(15): Show ATGTAGATACATGTAGATGCATG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0036 a0001c0005t0036	a0001c0005t0036g0028 a0001c0005t0036g0028	1	308	0.0033	22	c.335 others(41): Show c.335-10456_335-10455insGTAGATACATGTAGATGCATGT	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R2_chr19_18148163_18175532	18159144	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0072 a0002c0003t0010g0072	1	334	0.0030	22	c.323 others(39): Show c.323-1308_323-1307insTTTTTTTTTTTTTTTTTTTTTT	PIK3R2	ENSG00000105647.19	transcript	ENST00000222254.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIK3R3_chr1_46035140_46137629	46067277	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0015 a0001c0001t0005g0015	1	318	0.0031	22	c.315 others(37): Show c.315-187_315-186insTTATATATATATATATATATAT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIK3R3_chr1_46035140_46137629	46071759	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAGCGAGCGAGC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0019	1	318	0.0031	22	c.315 others(39): Show c.315-4669_315-4668insGCTCGCTCGCTCTCTCTCTCTC	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIM2_chrX_48908182_48924024	48923703	G G	GATCTCTT others(15): Show GATCTCTTTCCTCCTCCTCCGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	278	0.0036	22	c.-48 others(33): Show c.-4870_-4869insAACGGAGGAGGAGGAAAGAGAT	PIM2	ENSG00000102096.10	transcript	ENST00000376509.4	protein_coding		4680		chrX	TogoVar
PIMREG_chr17_6439455_6456469	6453011	T T	TGCCTTCC others(15): Show TGCCTTCCTGTCTTTCTTTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0006 a0001c0002t0004g0006	1	312	0.0032	22	c.26 others(33): Show c.2664_*2665insGCCTTCCTGTCTTTCTTTCTCC	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		1543		chr17	TogoVar
PIP4K2A_chr10_22529854_22719578	22596205	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	206	0.0049	22	c.340 others(39): Show c.340-4425_340-4424insTTTTTTTTTTTTTTTTTTTTTT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	3/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22671745	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0081 a0001c0005t0014g0081	1	206	0.0049	22	c.144 others(41): Show c.144+42416_144+42437dupGTGTGTGTGTGTGTGTGTGTGT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP5K1A_chr1_151193552_151254531	151251260	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19083.hp2 NA19079.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0286 a0001c0001t0001g0267 a0001c0001t0001g0286	2	334	0.0060	22	c.33 others(33): Show c.3395_*3396insAAAAAAAAAAAAAAAAAAAAAA	PIP5K1A	ENSG00000143398.20	transcript	ENST00000368888.9	protein_coding		1730		chr1	TogoVar
PIP5K1B_chr9_68700240_69014176	68920785	C C	CTCTCTCA others(15): Show CTCTCTCACACATACACACACAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01496.hp2 HG02896.hp2 others(1): Show HG01175.hp1 HG01496.hp2 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0211 others(1): Show a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0005g0063	4	220	0.0182	22	c.111 others(41): Show c.1116+1056_1116+1057insTCTCTCACACATACACACACAT	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	11/15			chr9	TogoVar
PIR_chrX_15379799_15498333	15433544	G G	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18972.hp2 NA18994.hp1 others(1): Show NA18971.hp1 NA18972.hp2 NA18994.hp1 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0046 a0001c0002t0001g0048 others(1): Show a0001c0002t0001g0037 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0097	4	272	0.0147	22	c.481 others(39): Show c.481-7555_481-7554insTTCTTTCTTTCTTTCTTTCTTT	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	5/9			chrX	TogoVar
PIR_chrX_15379799_15498333	15483174	T T	TATATATA others(15): Show TATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00741.hp2 others(45): Show HG00140.hp1 HG00438.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01168.hp2 HG01346.hp2 HG01884.hp1 HG01891.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02109.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG03195.hp1 HG03490.hp1 HG03492.hp1 HG03688.hp1 HG03834.hp1 HG03927.hp2 HG04184.hp1 NA18940.hp1 NA18942.hp1 NA18955.hp1 NA18956.hp1 NA18969.hp1 NA18971.hp1 NA18990.hp1 NA18993.hp2 NA19000.hp1 NA19004.hp1 NA19006.hp1 NA19057.hp1 NA19075.hp1 NA19077.hp1 NA19081.hp2 NA19086.hp1 NA20129.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0006c0008	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0002c0003t0003 a0006c0008t0001	a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 others(44): Show a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0103 a0001c0001t0001g0223 a0001c0002t0001g0001 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0080 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0094 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0222 a0001c0002t0001g0224 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0005g0007 a0002c0003t0003g0020 a0002c0003t0003g0095 a0006c0008t0001g0098	48	272	0.1765	22	c.97- others(37): Show c.97-3354_97-3353insCTATATATATATATATATATAT	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	2/9			chrX	TogoVar
PIR_chrX_15379799_15498333	15486298	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02293.hp1 HG03195.hp1 HG02071.hp1 HG02293.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0103 a0001c0002t0001g0025 a0001c0002t0002g0264 a0001c0001t0001g0103 a0001c0002t0001g0025 a0001c0002t0002g0264	3	272	0.0110	22	c.96+ others(37): Show c.96+4863_96+4864insTTTTTTTTTTTTTTTTTTTTTT	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	2/9			chrX	TogoVar
PISD_chr22_31613491_31667215	31640880	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	328	0.0031	22	c.321 others(39): Show c.321+7199_321+7220dupAAAAAAAAAAAAAAAAAAAAAA	PISD	ENSG00000241878.12	transcript	ENST00000439502.7	protein_coding	3/7			chr22	TogoVar
PITPNC1_chr17_67372281_67702256	67391060	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0075 a0001c0001t0007g0075	1	218	0.0046	22	c.48+ others(39): Show c.48+12863_48+12884dupGTGTGTGTGTGTGTGTGTGTGT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67403218	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0076 a0001c0001t0006g0076	1	218	0.0046	22	c.48+ others(39): Show c.48+25018_48+25039dupAAAAAAAAAAAAAAAAAAAAAA	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67425186	T T	TGCGCGCG others(15): Show TGCGCGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	218	0.0046	22	c.48+ others(39): Show c.48+46992_48+46993insGCGCGCGCGCGCGCGCGCGCGC	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67494185	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG04115.hp2 NA19030.hp1 HG02683.hp1 HG04115.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0020 a0001c0001t0021 a0001c0001t0008 a0001c0001t0020 a0001c0001t0021	a0001c0001t0008g0166 a0001c0001t0020g0005 a0001c0001t0021g0026 a0001c0001t0008g0166 a0001c0001t0020g0005 a0001c0001t0021g0026	3	218	0.0138	22	c.49- others(39): Show c.49-38616_49-38615insCTTTCTTTCTTTCTTTCTTTCT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67522659	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18522.hp2 HG02976.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0034 a0001c0001t0007 a0001c0001t0034	a0001c0001t0007g0177 a0001c0001t0034g0072 a0001c0001t0007g0177 a0001c0001t0034g0072	2	218	0.0092	22	c.49- others(39): Show c.49-10129_49-10128insTTTTTTTTTTTTTTTTTTTTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar

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