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
POLR1B_chr2_112537465_112584818	112549886	ATTGATGT others(10): Show ATTGATGTTTTCATCAGT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp2 HG02615.hp2 others(13): Show HG01891.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG06807.hp2 NA19240.hp1 NA20129.hp1	a0001 a0009 a0001 a0009	a0001c0003 a0009c0016 a0001c0003 a0009c0016	a0001c0003t0013 a0001c0003t0024 a0001c0003t0036 others(6): Show a0001c0003t0013 a0001c0003t0024 a0001c0003t0036 a0001c0003t0064 a0001c0003t0065 a0001c0003t0066 a0001c0003t0070 a0001c0003t0071 a0009c0016t0034	a0001c0003t0013g0042 a0001c0003t0013g0043 a0001c0003t0013g0044 others(12): Show a0001c0003t0013g0042 a0001c0003t0013g0043 a0001c0003t0013g0044 a0001c0003t0013g0226 a0001c0003t0024g0043 a0001c0003t0024g0044 a0001c0003t0024g0221 a0001c0003t0036g0220 a0001c0003t0036g0224 a0001c0003t0064g0225 a0001c0003t0065g0228 a0001c0003t0066g0227 a0001c0003t0070g0222 a0001c0003t0071g0223 a0009c0016t0034g0219	16	382	0.0419	-17	c.625 others(32): Show c.625+493_625+509delGTTTTCATCAGTTTGAT	POLR1B	ENSG00000125630.16	transcript	ENST00000263331.10	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
POLR2F_chr22_37948699_37974312	37951797	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00642.hp1 others(26): Show HG00140.hp1 HG00323.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01257.hp2 HG01361.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02572.hp1 HG03017.hp2 HG03654.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0040 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0151 a0001c0001t0013g0004	29	115	0.2522	-17	c.-19 others(28): Show c.-1990_-1974delTTTTTTTTTTTTTTTTT	POLR2F	ENSG00000100142.16	transcript	ENST00000442738.7	protein_coding		1901		chr22	TogoVar
POLR2M_chr15_57701714_57722557	57705550	AAAAATCG others(10): Show AAAAATCGGGGGAGGGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0005 a0008c0009t0005	a0008c0009t0005g0056 a0008c0009t0005g0056	1	402	0.0025	-17	c.-12 others(28): Show c.-1292_-1276delAAAATCGGGGGAGGGCG	POLR2M	ENSG00000255529.9	transcript	ENST00000299638.8	protein_coding		1163		chr15	TogoVar
POLR2M_chr15_57701714_57722557	57713820	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01346.hp1 HG02300.hp2 HG01070.hp2 HG01346.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0002 a0001c0001t0001g0021	3	44	0.0682	-17	c.964 others(32): Show c.964-693_964-677delTTTTTTTTTTTTTTTTT	POLR2M	ENSG00000255529.9	transcript	ENST00000299638.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
POLRMT_chr19_612221_638537	613266	TGCCGGAA others(10): Show TGCCGGAAGCTGGTGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0170 a0004c0004t0002g0170	1	420	0.0024	-17	c.39 others(28): Show c.3991_*4007delGGCCACCAGCTTCCGGC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding		3954		chr19	TogoVar
POLRMT_chr19_612221_638537	617104	GCCCCATT others(10): Show GCCCCATTAACCCCCACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18965.hp1 NA18963.hp2 NA18965.hp1	a0004 a0033 a0004 a0033	a0004c0004 a0033c0071 a0004c0004 a0033c0071	a0004c0004t0003 a0033c0071t0004 a0004c0004t0003 a0033c0071t0004	a0004c0004t0003g0286 a0033c0071t0004g0146 a0004c0004t0003g0286 a0033c0071t0004g0146	2	419	0.0048	-17	c.15 others(26): Show c.153_*169delTGTGGGGGTTAATGGGG	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding		116		chr19	TogoVar
POM121L12_chr7_53030633_53041925	53041008	CACAATAT others(10): Show CACAATATGACACCTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	430	0.0023	-17	c.44 others(28): Show c.4447_*4463delACAATATGACACCTTTT	POM121L12	ENSG00000221900.6	transcript	ENST00000408890.6	protein_coding		4084		chr7	TogoVar
POMGNT2_chr3_43074234_43111079	43103413	CCACCCAG others(10): Show CCACCCAGCCTGCACCCT	C C	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	376	0.0027	-17	c.-10 others(36): Show c.-106+2406_-106+2422delAGGGTGCAGGCTGGGTG	POMGNT2	ENSG00000144647.7	transcript	ENST00000344697.3	protein_coding	1/1			chr3	TogoVar
POMT1_chr9_131497918_131528799	131515853	CCTCACAG others(10): Show CCTCACAGGGAGCACTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00639.hp2 others(6): Show HG00280.hp1 HG00323.hp1 HG00639.hp2 HG01243.hp1 HG01516.hp1 HG01517.hp1 HG02965.hp1 HG03239.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0004 a0001c0009t0004 a0001c0001t0004 a0001c0009t0004	a0001c0001t0004g0009 a0001c0001t0004g0074 a0001c0001t0004g0086 others(2): Show a0001c0001t0004g0009 a0001c0001t0004g0074 a0001c0001t0004g0086 a0001c0009t0004g0072 a0001c0009t0004g0073	9	332	0.0271	-17	c.127 others(34): Show c.1272+335_1272+351delACAGGGAGCACTTTCTC	POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
POMT1_chr9_131497918_131528799	131516228	GCACTTCC others(10): Show GCACTTCCTCACACGGAA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01106.hp1 HG01361.hp2 others(14): Show HG00642.hp2 HG01106.hp1 HG01361.hp2 HG01943.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02572.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03209.hp2 HG03453.hp1 HG03516.hp2 HG03579.hp2 HG03710.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0015 a0003c0005 others(2): Show a0001c0001 a0001c0015 a0003c0005 a0003c0018 a0006c0016	a0001c0001t0003 a0001c0001t0010 a0001c0015t0003 others(3): Show a0001c0001t0003 a0001c0001t0010 a0001c0015t0003 a0003c0005t0003 a0003c0018t0003 a0006c0016t0003	a0001c0001t0003g0023 a0001c0001t0003g0058 a0001c0001t0003g0059 others(11): Show a0001c0001t0003g0023 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0165 a0001c0001t0010g0189 a0001c0015t0003g0054 a0003c0005t0003g0024 a0003c0005t0003g0025 a0003c0005t0003g0063 a0003c0005t0003g0075 a0003c0005t0003g0091 a0003c0005t0003g0170 a0003c0018t0003g0064 a0006c0016t0003g0164	17	331	0.0514	-17	c.127 others(34): Show c.1272+744_1272+760delTTCCTCACACGGAACAC	POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
POMT1_chr9_131497918_131528799	131516364	GCACTTCC others(10): Show GCACTTCCTCTAACAGAA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0189 a0001c0001t0010g0189	1	332	0.0030	-17	c.127 others(34): Show c.1272+852_1272+868delTAACAGAACACTTCCTC	POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
POP1_chr8_98112293_98164835	98161558	CCCCTTCC others(10): Show CCCCTTCCCCTCTCCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0182 a0001c0004t0006g0182	1	420	0.0024	-17	c.32 others(28): Show c.3288_*3304delCCCTTCCCCTCTCCTTT	POP1	ENSG00000104356.11	transcript	ENST00000401707.7	protein_coding		1724		chr8	TogoVar
POPDC2_chr3_119637056_119665589	119659836	CGAAATGG others(10): Show CGAAATGGAAAGGGACAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02602.hp2 HG03098.hp2 HG01109.hp2 HG02602.hp2 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0139 a0001c0001t0003g0140 a0002c0002t0002g0072 a0001c0001t0003g0139 a0001c0001t0003g0140 a0002c0002t0002g0072	3	408	0.0074	-17	c.491 others(30): Show c.491+80_491+96delATGTCCCTTTCCATTTC	POPDC2	ENSG00000121577.14	transcript	ENST00000493094.6	protein_coding	1/3			chr3	TogoVar
POTEB3_chr15_21400401_21445499	21404904	CTCTTTTT others(10): Show CTCTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0008 a0003c0002t0008	a0003c0002t0008g0007 a0003c0002t0008g0007	1	12	0.0833	-17	c.40 others(28): Show c.4062_*4078delAAAAAAAAAAAAAAAGA	POTEB3	ENSG00000278522.5	transcript	ENST00000611217.5	protein_coding		496		chr15	TogoVar
POTEF_chr2_130068535_130134222	130132054	CTACTGAT others(10): Show CTACTGATTTTTATATGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0155 a0002c0002t0022g0155	1	164	0.0061	-17	c.-32 others(28): Show c.-3249_-3233delACATATAAAAATCAGTA	POTEF	ENSG00000196604.13	transcript	ENST00000409914.7	protein_coding		2833		chr2	TogoVar
POTEG_chr14_19397486_19439341	19434994	CGGCGTGC others(10): Show CGGCGTGCGCGTGCGGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0012 a0012	a0012c0044 a0012c0044	a0012c0044t0008 a0012c0044t0008	a0012c0044t0008g0102 a0012c0044t0008g0102	1	104	0.0096	-17	c.-72 others(26): Show c.-722_-706delCGCCGCACGCGCACGCC	POTEG	ENSG00000187537.13	transcript	ENST00000547848.5	protein_coding		654		chr14	TogoVar
POTEJ_chr2_130606440_130663037	130651029	CCTCATCC others(10): Show CCTCATCCTCACAAAGTG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0001 a0011c0016t0001	a0011c0016t0001g0054 a0011c0016t0001g0054	1	130	0.0077	-17	c.166 others(36): Show c.1668-3889_1668-3873delCATCCTCACAAAGTGCT	POTEJ	ENSG00000222038.4	transcript	ENST00000409602.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
POTEM_chr14_18962434_19008752	18976007	TTTTTTGA others(10): Show TTTTTTGAATTACATACG	T T	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03654.hp2 NA18991.hp1 others(2): Show HG02083.hp2 HG03654.hp2 NA18991.hp1 NA18994.hp2 NA19058.hp1	a0004 a0017 a0004 a0017	a0004c0004 a0017c0016 a0004c0004 a0017c0016	a0004c0004t0032 a0004c0004t0033 a0004c0004t0034 others(2): Show a0004c0004t0032 a0004c0004t0033 a0004c0004t0034 a0004c0004t0035 a0017c0016t0031	a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 others(2): Show a0004c0004t0032g0009 a0004c0004t0033g0008 a0004c0004t0034g0007 a0004c0004t0035g0006 a0017c0016t0031g0038	5	66	0.0758	-17	c.811 others(30): Show c.811-35_811-19delAATTACATACGTTTTTG	POTEM	ENSG00000222036.8	transcript	ENST00000547889.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
POU2AF2_chr11_111240725_111291401	111264492	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	373	0.0027	-17	c.120 others(34): Show c.120+8403_120+8419delAGAAAGAAAGAAAGAAA	POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111268480	TTATTTTA others(10): Show TTATTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0293 a0001c0003t0002g0293	1	377	0.0027	-17	c.120 others(36): Show c.120+12390_120+12406delATTTTATTTTATTTTAT	POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2F1_chr1_167215886_167432340	167343632	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18981.hp1 HG01346.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0075 a0001c0001t0002g0037 a0001c0001t0002g0075	2	124	0.0161	-17	c.127 others(36): Show c.127+11135_127+11151delTTTTTTTTTTTTTTTTT	POU2F1	ENSG00000143190.23	transcript	ENST00000367866.7	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
POU2F3_chr11_120235140_120324945	120308938	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02818.hp1 HG02451.hp2 HG02818.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0072 a0005c0005t0001g0079 a0005c0005t0001g0072 a0005c0005t0001g0079	2	9	0.2222	-17	c.907 others(32): Show c.907-465_907-449delAAAAAAAAAAAAAAAAA	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU6F2_chr7_38972909_39473601	39454711	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	163	0.0061	-17	c.148 others(36): Show c.1489+3012_1489+3028delTATATATATATATATAA	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPA2_chr4_105364077_105479062	105449216	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03942.hp2 HG03516.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0155 a0001c0009t0001g0299 a0001c0001t0001g0155 a0001c0009t0001g0299	2	30	0.0667	-17	c.321 others(32): Show c.321+117_321+133delTTTTTTTTTTTTTTTTT	PPA2	ENSG00000138777.20	transcript	ENST00000341695.10	protein_coding	4/11			chr4	TogoVar
PPARA_chr22_46145526_46248755	46185915	AAATATAT others(10): Show AAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0067 a0001c0001t0021g0067	1	191	0.0052	-17	c.-43 others(34): Show c.-43+9081_-43+9097delATATATATATATATATA	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPARA_chr22_46145526_46248755	46185917	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA20129.hp2 HG02965.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0068 a0001c0001t0001 a0001c0001t0068	a0001c0001t0001g0195 a0001c0001t0068g0070 a0001c0001t0001g0195 a0001c0001t0068g0070	2	181	0.0110	-17	c.-43 others(34): Show c.-43+9082_-43+9098delTATATATATATATATAT	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	3/8			chr22	TogoVar
PPARA_chr22_46145526_46248755	46197029	TGTTTGGT others(10): Show TGTTTGGTTTTGGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02145.hp2 HG02647.hp1 others(5): Show HG01943.hp2 HG02145.hp2 HG02647.hp1 HG02965.hp1 HG03098.hp2 HG03139.hp2 HG03453.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0027 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0027 a0001c0001t0059 a0001c0001t0064	a0001c0001t0001g0115 a0001c0001t0003g0062 a0001c0001t0003g0149 others(5): Show a0001c0001t0001g0115 a0001c0001t0003g0062 a0001c0001t0003g0149 a0001c0001t0003g0174 a0001c0001t0027g0003 a0001c0001t0027g0162 a0001c0001t0059g0061 a0001c0001t0064g0006	8	198	0.0404	-17	c.-42 others(34): Show c.-42-1296_-42-1280delGGTTTGGTTTTGGTTTT	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPARA_chr22_46145526_46248755	46205540	ATATATAT others(10): Show ATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	198	0.0051	-17	c.208 others(34): Show c.208+6951_208+6967delATATATATATATATTTT	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPARD_chr6_35337558_35433178	35380457	GTGTTTTT others(10): Show GTGTTTTTTTTTTTTGTT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02647.hp1 HG03130.hp2 others(1): Show HG01109.hp2 HG02647.hp1 HG03130.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0013 a0001c0002t0003g0015 a0001c0002t0003g0017 others(1): Show a0001c0001t0001g0013 a0001c0002t0003g0015 a0001c0002t0003g0017 a0001c0002t0003g0018	4	236	0.0169	-17	c.-10 others(38): Show c.-101-30515_-101-30499delGTTTGTTTTTTTTTTTT	PPARD	ENSG00000112033.14	transcript	ENST00000360694.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPARD_chr6_35337558_35433178	35384797	GGCCCCGC others(10): Show GGCCCCGCCCGGCCAGCC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp1 HG01192.hp1 others(2): Show HG00733.hp2 HG00741.hp1 HG01192.hp1 HG02630.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0018 a0001c0002t0003 a0001c0002t0018	a0001c0002t0003g0033 a0001c0002t0003g0043 a0001c0002t0003g0044 others(2): Show a0001c0002t0003g0033 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0046 a0001c0002t0018g0036	5	236	0.0212	-17	c.-10 others(38): Show c.-101-26183_-101-26167delCCCGGCCAGCCGCCCCG	PPARD	ENSG00000112033.14	transcript	ENST00000360694.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPARGC1A_chr4_23787021_23895047	23811889	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02897.hp2 HG03225.hp2 others(5): Show HG02717.hp1 HG02897.hp2 HG03225.hp2 NA18612.hp1 NA18747.hp2 NA18946.hp2 NA19063.hp1 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002	a0001c0001t0011 a0001c0001t0015 a0001c0003t0016 others(4): Show a0001c0001t0011 a0001c0001t0015 a0001c0003t0016 a0001c0005t0001 a0001c0005t0007 a0002c0002t0001 a0002c0002t0006	a0001c0001t0011g0168 a0001c0001t0015g0011 a0001c0001t0015g0311 others(5): Show a0001c0001t0011g0168 a0001c0001t0015g0011 a0001c0001t0015g0311 a0001c0003t0016g0022 a0001c0005t0001g0088 a0001c0005t0007g0154 a0002c0002t0001g0107 a0002c0002t0006g0320	8	28	0.2857	-17	c.201 others(34): Show c.2019+841_2019+857delAAAAAAAAAAAAAAAAA	PPARGC1A	ENSG00000109819.9	transcript	ENST00000264867.7	protein_coding	10/12			chr4	TogoVar
PPAT_chr4_56388362_56440615	56402833	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAGG	A A	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0208 a0001c0003t0005g0208	1	382	0.0026	-17	c.661 others(32): Show c.661+190_661+206delCCTTTTTTTTTTTTTTT	PPAT	ENSG00000128059.8	transcript	ENST00000264220.6	protein_coding	5/10			chr4	TogoVar
PPAT_chr4_56388362_56440615	56438385	ATATATAT others(10): Show ATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	1	382	0.0026	-17	c.-29 others(28): Show c.-2925_-2909delATATATATATATATATA	PPAT	ENSG00000128059.8	transcript	ENST00000264220.6	protein_coding		2771		chr4	TogoVar
PPBP_chr4_73981439_73993190	73982164	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG02040.hp1 HG02647.hp2 others(6): Show HG00609.hp2 HG02040.hp1 HG02647.hp2 NA18942.hp2 NA18979.hp1 NA18999.hp1 NA19066.hp2 NA19076.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0001 a0001c0001t0008g0010 a0001c0001t0001g0001 a0001c0001t0008g0010	9	34	0.2647	-17	c.50 others(28): Show c.5091_*5107delTTTTTTTTTTTTTTTTT	PPBP	ENSG00000163736.4	transcript	ENST00000296028.4	protein_coding		4274		chr4	TogoVar
PPFIA1_chr11_70265690_70389396	70366590	CGCCACTG others(10): Show CGCCACTGGCCTTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0043 a0001c0005t0003g0043	1	280	0.0036	-17	c.286 others(36): Show c.2865+4104_2865+4120delCCACTGGCCTTCTGTGG	PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIA2_chr12_81252975_81764350	81415197	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	167	0.0060	-17	c.646 others(34): Show c.646-9311_646-9295delATATTTTTTTTTTTTTT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	7/32			chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81415199	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	168	0.0060	-17	c.646 others(34): Show c.646-9313_646-9297delATATATTTTTTTTTTTT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	7/32			chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81415203	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	162	0.0062	-17	c.646 others(34): Show c.646-9317_646-9301delATATATATATTTTTTTT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	7/32			chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81415205	AAAAAAAT others(10): Show AAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18982.hp2 NA19080.hp2 HG02809.hp1 NA18982.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0131 a0001c0001t0002g0036 a0001c0001t0003g0017 a0001c0001t0001g0131 a0001c0001t0002g0036 a0001c0001t0003g0017	3	164	0.0183	-17	c.646 others(34): Show c.646-9319_646-9303delATATATATATATTTTTT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	7/32			chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81415207	AAAAATAT others(10): Show AAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18960.hp1 HG03139.hp2 NA18960.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0006 a0002c0003 a0003c0006	a0002c0003t0001 a0003c0006t0002 a0002c0003t0001 a0003c0006t0002	a0002c0003t0001g0128 a0003c0006t0002g0138 a0002c0003t0001g0128 a0003c0006t0002g0138	2	163	0.0123	-17	c.646 others(34): Show c.646-9321_646-9305delATATATATATATATTTT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	7/32			chr12	TogoVar
PPFIBP1_chr12_27519206_27700564	27595881	AACAAAAT others(10): Show AACAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	312	0.0032	-17	c.-36 others(36): Show c.-36+17644_-36+17660delCAAAATATATATATATA	PPFIBP1	ENSG00000110841.14	transcript	ENST00000228425.11	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPFIBP2_chr11_7508999_7658756	7559939	AAGAGTGT others(10): Show AAGAGTGTTATCTTTTTC	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0001 a0009c0019t0001	a0009c0019t0001g0230 a0009c0019t0001g0230	1	316	0.0032	-17	c.65- others(32): Show c.65-5611_65-5595delAGTGTTATCTTTTTCAG	PPFIBP2	ENSG00000166387.14	transcript	ENST00000299492.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIBP2_chr11_7508999_7658756	7606886	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	38	0.0263	-17	c.487 others(34): Show c.487-3379_487-3363delTTTTTTTTTTTTTTTTT	PPFIBP2	ENSG00000166387.14	transcript	ENST00000299492.9	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPHLN1_chr12_42321167_42447181	42378135	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	374	0.0027	-17	c.511 others(34): Show c.511+3062_511+3078delCTTTCTTTCTTTCTTTC	PPHLN1	ENSG00000134283.18	transcript	ENST00000358314.12	protein_coding	5/9			chr12	TogoVar
PPIAL4A_chr1_120884771_120895530	120889441	AAGAAGAA others(10): Show AAGAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	276	0.0036	-17	c.-37 others(26): Show c.-379_-363delAGAAGAAAGAAAGAAAG	PPIAL4A	ENSG00000263353.4	transcript	ENST00000577856.3	protein_coding		329		chr1	TogoVar
PPIAL4C_chr1_149578848_149589607	149583510	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 NA18953.hp2 NA18970.hp1 HG01175.hp1 NA18953.hp2 NA18970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0000 a0002c0002t0002g0000 a0001c0001t0001g0000 a0002c0002t0002g0000	3	446	0.0067	-17	c.-38 others(26): Show c.-387_-371delAAAGAAAGAAAGAAAGA	PPIAL4C	ENSG00000288867.1	transcript	ENST00000585245.3	protein_coding		337		chr1	TogoVar
PPIAL4F_chr1_144587893_144598652	144592581	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02886.hp1 HG02630.hp2 HG02886.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0000 a0002c0003t0001g0000	2	159	0.0126	-17	c.-36 others(26): Show c.-361_-345delAAAGAAAGAAAGAAAGA	PPIAL4F	ENSG00000279782.3	transcript	ENST00000581138.4	protein_coding		311		chr1	TogoVar
PPIAL4H_chr1_146339006_146349765	146345070	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG02109.hp2 HG02145.hp1 others(5): Show HG00544.hp1 HG02109.hp2 HG02145.hp1 HG02738.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG04204.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0003c0005 others(1): Show a0001c0001 a0003c0004 a0003c0005 a0004c0003	a0001c0001t0001 a0001c0001t0006 a0003c0004t0003 others(2): Show a0001c0001t0001 a0001c0001t0006 a0003c0004t0003 a0003c0005t0004 a0004c0003t0002	a0001c0001t0001g0000 a0001c0001t0006g0000 a0003c0004t0003g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0006g0000 a0003c0004t0003g0000 a0003c0005t0004g0000 a0004c0003t0002g0000	8	414	0.0193	-17	c.-37 others(26): Show c.-372_-356delAGAAAGAAAGAAAGAAA	PPIAL4H	ENSG00000270339.4	transcript	ENST00000584068.4	protein_coding		306		chr1	TogoVar
PPIF_chr10_79342469_79360334	79358076	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0020 a0001c0001t0018g0020	1	43	0.0233	-17	c.42 others(28): Show c.4235_*4251delAAAAAAAAAAAAAAAAA	PPIF	ENSG00000108179.14	transcript	ENST00000225174.8	protein_coding		2743		chr10	TogoVar
PPIL6_chr6_109385215_109445628	109391287	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp2 HG03225.hp1 HG02886.hp2 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0036 a0001c0003t0021g0039 a0001c0003t0021g0036 a0001c0003t0021g0039	2	110	0.0182	-17	c.15 others(28): Show c.1522_*1538delTTTTTTTTTTTTTTTTT	PPIL6	ENSG00000185250.16	transcript	ENST00000521072.7	protein_coding	8/8	1522		chr6	TogoVar

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