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
P2RX1_chr17_3891592_3921465	3918145	A A	AGAGGGAG others(89): Show AGAGGGAGGGAGGGGAGGGAGGGAGGGGGAGGGAGGGAGGAAGGAAGGGA GGAAGGGAAGGGGAGGGAGGGAAGGAAGGGAGGGAAGGGAAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0060 a0001c0001t0006g0060	1	61	0.0164	96	c.-19 others(107): Show c.-1921_-1920insCCTCTCTTCCCTTCCCTCCCTTCCTTCCCTCCCT CCCCTTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCCCTCCCTCCCTCC CCTCCCTCCCTC	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding		1681		chr17	TogoVar
PABIR2_chrX_134764566_134802205	134788146	T T	TACGTTAT others(89): Show TACGTTATATATGTGTAATATATACACGTTATATATGTGTAATATATACA CGTTATATATGTGTAATATATACACGTTATATATGTGTAATATATAC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	136	0.0074	96	c.435 others(111): Show c.435+488_435+583dupGTATATATTACACATATATAACGTGTATAT ATTACACATATATAACGTGTATATATTACACATATATAACGTGTATATAT TACACATATATAACGT	PABIR2	ENSG00000156504.17	transcript	ENST00000343004.10	protein_coding	6/9			chrX	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(89): Show GTGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATATGTGTGCATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp1 HG02148.hp1 others(5): Show HG00735.hp1 HG01175.hp1 HG02148.hp1 HG02523.hp2 HG02683.hp2 HG02896.hp2 NA19002.hp1 NA19007.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0003c0005 a0003c0013 a0004c0024	a0001c0001t0002 a0001c0001t0008 a0001c0002t0003 others(4): Show a0001c0001t0002 a0001c0001t0008 a0001c0002t0003 a0001c0004t0011 a0003c0005t0002 a0003c0013t0006 a0004c0024t0003	a0001c0001t0002g0103 a0001c0001t0008g0007 a0001c0002t0003g0018 others(5): Show a0001c0001t0002g0103 a0001c0001t0008g0007 a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0004t0011g0126 a0003c0005t0002g0117 a0003c0013t0006g0111 a0004c0024t0003g0014	8	47	0.1702	96	c.196 others(117): Show c.1964+81342_1964+81437dupATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGTGCATATATATACATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(89): Show GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATATGTGTGCATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	40	0.0250	96	c.196 others(117): Show c.1964+81221_1964+81222insGTGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGTGCATATATATACATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(89): Show GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATATGTGTGCATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0091 a0001c0001t0005g0091	1	40	0.0250	96	c.196 others(117): Show c.1964+81221_1964+81222insGTGTGTGCATATATATACATATAT GTGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGTGCATATATATACATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(89): Show CTATCTTGGTCTGTTTTCCCCCAGGATAGATAGATAGATATATATATATA TATATATATATATATATATATATATATACAGTAACTTTTAAAAAGTT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	108	0.0093	96	c.181 others(113): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATAGA TAGATAGATATATATATATATATATATATATATATATATATATATATACA GTAACTTTTAAAAAGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(89): Show CTATCTTGGTCTGTTTTCCCCCAGGATAGATATATATATATATATATATA TATATATATATATATATATATATATATACAGTAACTTTTAAAAAGTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00438.hp2 others(5): Show HG00140.hp2 HG00323.hp1 HG00438.hp2 HG01243.hp2 HG02015.hp2 HG02055.hp1 HG03654.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0027 a0001c0001t0001 a0001c0001t0002 a0001c0001t0027	a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 others(4): Show a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0206 a0001c0001t0002g0027 a0001c0001t0002g0154 a0001c0001t0027g0153	8	115	0.0696	96	c.181 others(113): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATAGA TATATATATATATATATATATATATATATATATATATATATATATATACA GTAACTTTTAAAAAGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(89): Show CTATCTTGGTCTGTTTTCCCCCAGGATATATATATATATATATATATATA TATATATATATATATATATATATATATACAGTAACTTTTAAAAAGTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03579.hp2 NA18612.hp1 others(1): Show HG01261.hp1 HG03579.hp2 NA18612.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0002g0190 a0001c0001t0003g0070 a0001c0001t0008g0229 others(1): Show a0001c0001t0002g0190 a0001c0001t0003g0070 a0001c0001t0008g0229 a0001c0001t0008g0230	4	111	0.0360	96	c.181 others(113): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATATA TATATATATATATATATATATATATATATATATATATATATATATATACA GTAACTTTTAAAAAGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(89): Show CTATCTTGGTCTGTTTTCCCCCAGGATATATATATATATATATATATATA TATATATATATATATATATATATATATACAGTAACTTTTAAAAGGTT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA19006.hp1 NA18984.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0191 a0001c0001t0001g0192	2	109	0.0183	96	c.181 others(113): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATATA TATATATATATATATATATATATATATATATATATATATATATATATACA GTAACTTTTAAAAGGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PANX2_chr22_50165731_50185295	50166508	G G	GTCCCAGC others(89): Show GTCCCAGCGTGGCCCACGCCTGCAGTCCCAGCGTGGCCCACGCCTGCAGT CCCAGCGTGGCCCACATCTCCAGTCCCAGCGTGGCTCAAGCCTGCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	152	0.0066	96	c.-42 others(107): Show c.-4223_-4222insTCCCAGCGTGGCCCACGCCTGCAGTCCCAGCGTG GCCCACGCCTGCAGTCCCAGCGTGGCCCACATCTCCAGTCCCAGCGTGGC TCAAGCCTGCAA	PANX2	ENSG00000073150.14	transcript	ENST00000395842.3	protein_coding		4222		chr22	TogoVar
PARD3_chr10_34104561_34820296	34605841	A A	ATATATAT others(89): Show ATATATATATCTCCTATATATATATCTCCTATATATATATATCTCCTATA TATATATCTATCTCCTATATATATATCTCCTATATATATATATCTCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03130.hp2 HG02970.hp1 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0091 a0001c0002t0009g0092 a0001c0002t0009g0091 a0001c0002t0009g0092	2	88	0.0227	96	c.223 others(115): Show c.223-88683_223-88682insGGAGATATATATATATAGGAGATATA TATATAGGAGATAGATATATATATAGGAGATATATATATATAGGAGATAT ATATATAGGAGATATATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARP6_chr15_72236181_72277554	72275860	A A	AGTGTCAT others(89): Show AGTGTCATTTGGCATTGTCAATCATCTTGCCCCTGCAGTTGACTGCATGG TGTCATTTGGCATTGTCAATCATCTTGCCCCTGCAGTTGACTGCATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	10	0.1000	96	c.-39 others(107): Show c.-3928_-3927insCATGCAGTCAACTGCAGGGGCAAGATGATTGACA ATGCCAAATGACACCATGCAGTCAACTGCAGGGGCAAGATGATTGACAAT GCCAAATGACAC	PARP6	ENSG00000137817.17	transcript	ENST00000569795.6	protein_coding		3307		chr15	TogoVar
PARP9_chr3_122522924_122569300	122539507	A A	ATTTCTTT others(89): Show ATTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0274 a0002c0001t0001g0274	1	71	0.0141	96	c.176 others(113): Show c.1765+964_1765+965insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAA	PARP9	ENSG00000138496.17	transcript	ENST00000682323.1	protein_coding	8/10			chr3	TogoVar
PARVG_chr22_44175925_44213469	44198937	T T	TCCATCCA others(89): Show TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCACC CACCCACCCATCCACCCACCCACCCACCCATCCATCCATCCACCCAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	319	0.0031	96	c.813 others(111): Show c.813+218_813+219insTCCATCCATCCATCCATCCATCCATCCATC CATCCATCCACCCACCCACCCACCCATCCACCCACCCACCCACCCATCCA TCCATCCACCCACCCA	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVG_chr22_44175925_44213469	44198945	C C	CCCATCCA others(89): Show CCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCACC CACCCACCCACCCACCCACCCACCCACCCACCCACCCACCCACCCAT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0134 a0001c0002t0005g0134	1	125	0.0080	96	c.813 others(111): Show c.813+266_813+267insCCCACCCACCCACCCACCCACCCACCCACC CACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCA	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVG_chr22_44175925_44213469	44198948	A A	ATCCATCC others(89): Show ATCCATCCATCCATCCACCCACCCACCCACCCACCCACCCACCCACCCAC CCATCCATCCATCCATCCACCCACCCACCCACCCGTCCGTCCGTCCG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0061 a0001c0005t0003g0061	1	420	0.0024	96	c.813 others(111): Show c.813+242_813+243insCCCACCCACCCACCCACCCACCCACCCACC CACCCATCCATCCATCCATCCACCCACCCACCCACCCGTCCGTCCGTCCG TCCATCCATCCATCCA	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVG_chr22_44175925_44213469	44198956	A A	ATCCATCC others(89): Show ATCCATCCATCCACCCACCCACCCACCCACCCACCCATCCACCCACCCAC CCATCCATCCATCCATCCACCCACCCACCCACCCGTCCGTCCGTCCG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0280 a0001c0001t0003g0280	1	420	0.0024	96	c.813 others(111): Show c.813+246_813+247insCCCACCCACCCACCCACCCACCCATCCACC CACCCACCCATCCATCCATCCATCCACCCACCCACCCACCCGTCCGTCCG TCCGTCCATCCATCCA	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr22	TogoVar
PATL1_chr11_59631716_59674037	59632593	A A	ATATATAT others(89): Show ATATATATATCTATATATATCTATATATATATCTATATATATGTATATAT ATATCTATATATATCTATATATATATCTATATATATCTATATATATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0162 a0001c0009t0001g0162	1	270	0.0037	96	c.57 others(107): Show c.5796_*5797insGATATATATAGATATATATAGATATATATATAGA TATATATAGATATATATATACATATATATAGATATATATATAGATATATA TAGATATATATA	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		4122		chr11	TogoVar
PAXBP1_chr21_32728899_32776755	32771911	A A	AGACAGAG others(89): Show AGACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	355	0.0028	96	c.-24 others(105): Show c.-244_-243insCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTGTC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		157		chr21	TogoVar
PCBP3_chr21_45638725_45947450	45746956	T T	TTGTGTCA others(89): Show TTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTTG TGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	1	283	0.0035	96	c.-16 others(115): Show c.-161-8458_-161-8457insGTCAGCATCGCCGTGTCAGTCCACTG ACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCATTGACG TAGCGCACACGGTGTTGTGT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45746956	T T	TTGTGTCA others(89): Show TTGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTG TGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0021 a0001c0001t0015g0021	1	283	0.0035	96	c.-16 others(115): Show c.-161-8458_-161-8457insGTCAGCATCGCCGTGTCAGTCCATTG ACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCATTGACG TAGCGCACACGGTGTTGTGT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCED1A_chr20_2830314_2845655	2842829	T T	TATAGATG others(89): Show TATAGATGTATCTATCTATCGATCGATAGATGCATCTATCTATCGATCGA TAGATGCATCTATCGATCGATCGATAGATGCATCTATCGATCGATCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0037 a0001c0009t0001g0037	1	359	0.0028	96	c.-26 others(107): Show c.-2641_-2640insCGATCGATCGATAGATGCATCTATCGATCGATCG ATAGATGCATCTATCGATCGATAGATAGATGCATCTATCGATCGATAGAT AGATACATCTAT	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2175		chr20	TogoVar
PCGF3_chr4_700832_775089	732078	G G	GGGGCGTA others(89): Show GGGGCGTAGGGCGGGGCTCCCCTCCCCTCGTGGGTGGGCGTGGTCCTCAG GGGCGTAGGGTGGGGCTCTCCTCCCCTCGTGGGTGGGCGTGGTCCTC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0087 a0001c0001t0006g0088 a0001c0001t0006g0087 a0001c0001t0006g0088	2	364	0.0055	96	c.-10 others(113): Show c.-10+1027_-10+1028insTGGGGCTCTCCTCCCCTCGTGGGTGGGC GTGGTCCTCGGGCGTAGGGCGGGGCTCCCCTCCCCTCGTGGGTGGGCGTG GTCCTCAGGGGCGTAGGG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCID2_chr13_113172536_113213669	113176446	A A	ACCCGACA others(89): Show ACCCGACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGC ACATGCCTGTCACCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0148 a0001c0005t0001g0148	1	320	0.0031	96	c.17 others(107): Show c.1751_*1752insGCAATTCCCCCGCCTCGGCCTCCCAAAGTGCTGG GTGACAGGCATGTGCCACCACACCCGGCTCTCTTCCTCTTACAAGGCCAC AGTTCTGTCGGG	PCID2	ENSG00000126226.22	transcript	ENST00000337344.9	protein_coding		1089		chr13	TogoVar
PCNX1_chr14_70902459_71120382	70910103	T T	TCCTCCTC others(89): Show TCCTCCTCCTCCTCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTC CTCCTCCTCCCCCTCCTCCTCCTCCTCCTCCTCCCCCTCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0036 a0001c0001t0037g0036	1	315	0.0032	96	c.153 others(113): Show c.153+2105_153+2106insTCCTCCTCCTCCTCCTCCTCCCCCTCCT CCTCCCCCTCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCTCCTCCTCC CCCTCCTCCTCCCCCTCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PDGFD_chr11_103902189_104169147	103985078	T T	TATTTATT others(89): Show TATTTATTTAATATATAATATATTAATTTATTTAATATATTATATATTAA TTTATTTAATATATTATATATTAATTTATTTAATATATAATATATTA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0124 a0001c0001t0009g0124	1	92	0.0109	96	c.510 others(115): Show c.510+10986_510+10987insTAATATATTATATATTAAATAAATTA ATATATAATATATTAAATAAATTAATATATAATATATTAAATAAATTAAT ATATTATATATTAAATAAAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	3/6			chr11	TogoVar
PDPN_chr1_13578832_13622957	13588994	A A	AAATTGAA others(89): Show AAATTGAATAGTGCTACTATTCAATAAATTGAATAGTGCTACTATTCAAT AAATTGAATAGTGCTACTATTCAATAAATTGAATAGTGCTACTATTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0191 a0001c0002t0013g0191	1	437	0.0023	96	c.67+ others(111): Show c.67+4897_67+4898insTGAATAGTGCTACTATTCAATAAATTGAAT AGTGCTACTATTCAATAAATTGAATAGTGCTACTATTCAATAAATTGAAT AGTGCTACTATTCAAT	PDPN	ENSG00000162493.17	transcript	ENST00000621990.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(89): Show TTCTCTCTCTCTCTCTCTCCCTCCCTCTCTCCCTCTCTCTCTCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	14	0.0714	96	c.48 others(107): Show c.4863_*4864insGAGAGAGAGAGAGGGAGAGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGAGAGAGAGAGGGAGAGAGGGAGGGAGAGA GAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(89): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00544.hp1 others(63): Show HG00280.hp2 HG00408.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG01069.hp1 HG01071.hp2 HG01109.hp2 HG01123.hp1 HG01192.hp1 HG01243.hp1 HG01346.hp2 HG01361.hp1 HG02027.hp1 HG02040.hp1 HG02083.hp1 HG02083.hp2 HG02165.hp1 HG02602.hp2 HG02886.hp1 HG03098.hp2 HG03139.hp1 HG03704.hp1 HG03927.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18948.hp2 NA18952.hp2 NA18959.hp1 NA18961.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18979.hp2 NA18981.hp1 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19088.hp2 NA19091.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0051 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0002g0009 a0001c0001t0002g0038 a0001c0001t0003g0037 a0001c0002t0001g0005 a0002c0003t0001g0006	66	79	0.8354	96	c.48 others(107): Show c.4863_*4864insGAGGGAGAGGGAGAGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGGGAGAGAGA GAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(89): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	14	0.0714	96	c.48 others(107): Show c.4863_*4864insGAGAGAGAGGGAGAGGGAGAGGGAGGGGGAGGGG GAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGGGAGAGAGA GAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(89): Show TTCTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCTGTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG02976.hp2 HG01257.hp1 HG01258.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0002t0001g0005 a0001c0001t0001g0003 a0001c0002t0001g0005	3	16	0.1875	96	c.48 others(107): Show c.4863_*4864insGAGAGAGAGAGAGACAGAGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGAGAGAGAGAGAGGGAGAGAGGGGGAGAGAGAGA GAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PEBP4_chr8_22708251_22932914	22860148	T T	TTATATAT others(89): Show TTATATATACACATATATATGTATATATATATACACATATATATGTGTAT ATATATACACATATATATGTATATATATATACACATATATATGTATA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0161 a0002c0002t0012g0161	1	274	0.0036	96	c.259 others(115): Show c.259-42414_259-42413insTATACATATATATGTGTATATATATA TACATATATATGTGTATATATATACACATATATATGTGTATATATATATA CATATATATGTGTATATATA	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	3/6			chr8	TogoVar
PERM1_chr1_970198_987093	977719	C C	CCACTCCC others(89): Show CCACTCCCCGCGCAACCCCGGGAACCGCCTCCCACTCCCCGCGCAACCCC GGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0076 a0006c0008t0001g0076	1	378	0.0026	96	c.215 others(115): Show c.2150-1096_2150-1095insTGGGAGGCGGTTCCCGGGGTTGGTGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGCGGGGAGTGGGAGGCGGTTC CCGGGGTTGCGCGGGGAGTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PEX26_chr22_18072990_18110396	18106277	G G	GTGTGGTT others(89): Show GTGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCATGAGAGCTGAAGAC GTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG02735.hp1 others(6): Show HG00140.hp2 HG00609.hp1 HG02735.hp1 HG03669.hp2 HG03942.hp1 HG04199.hp2 NA19003.hp1 NA19058.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0019 a0001c0001t0133 others(1): Show a0001c0001t0013 a0001c0001t0019 a0001c0001t0133 a0001c0001t0135	a0001c0001t0013g0012 a0001c0001t0013g0139 a0001c0001t0013g0141 others(3): Show a0001c0001t0013g0012 a0001c0001t0013g0139 a0001c0001t0013g0141 a0001c0001t0019g0012 a0001c0001t0133g0149 a0001c0001t0135g0012	9	393	0.0229	96	c.18 others(109): Show c.18202_*18203insTGTGGTTCCAGTCTGAGTCTGAAGCCTGAGAC CCATGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCC ACGAGAGCTGAAGA	PEX26	ENSG00000215193.14	transcript	ENST00000399744.8	protein_coding		882		chr22	TogoVar
PEX26_chr22_18072990_18110396	18106943	G G	GTGGTTCC others(89): Show GTGGTTCCAGTCTGAGTCTGAAGTCTGAGACCCAGGAGAGCTGAAGATGT GGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGCAGAGCTGAAGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0001 a0001c0001t0066g0001	1	254	0.0039	96	c.18 others(109): Show c.18868_*18869insTGGTTCCAGTCTGAGTCTGAAGTCTGAGACCC AGGAGAGCTGAAGATGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAG CAGAGCTGAAGACA	PEX26	ENSG00000215193.14	transcript	ENST00000399744.8	protein_coding		1548		chr22	TogoVar
PEX5_chr12_7184686_7216459	7197144	A A	ATAATTAT others(89): Show ATAATTATATATGTCATATATAATGTAATTATATATGTCATATATAATGT AATTATATATGTCATATATAATGTAATTATATATGTCATATATAATG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18967.hp1 NA18954.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0232 a0001c0001t0002g0216 a0001c0001t0002g0232	2	325	0.0062	96	c.449 others(113): Show c.449-1777_449-1776insATAATGTAATTATATATGTCATATATAA TGTAATTATATATGTCATATATAATGTAATTATATATGTCATATATAATG TAATTATATATGTCATAT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197211	A A	ATAATGTA others(89): Show ATAATGTAATTATATATGTCATATATAATGTAATTATATATGTCATATAT AATGTAATTATATATGTCATATATAATGTAATTATATATGTCATATG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	425	0.0024	96	c.449 others(113): Show c.449-1777_449-1776insATAATGTAATTATATATGTCATATATAA TGTAATTATATATGTCATATATAATGTAATTATATATGTCATATGTAATG TAATTATATATGTCATAT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PFKP_chr10_3062548_3141802	3084751	G G	GCCCCTCC others(89): Show GCCCCTCCCCAGGAGAGTCCTCCAGCCCCTCCCCAGGAGAGTCCTCCAGC CCCTCCCCAGGAGAGTCCTCCAGCCCCTCCCCAGGAGAGTCCTCCAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18977.hp2 HG00140.hp2 NA18977.hp2	a0001 a0001	a0001c0003 a0001c0015 a0001c0003 a0001c0015	a0001c0003t0001 a0001c0015t0001 a0001c0003t0001 a0001c0015t0001	a0001c0003t0001g0183 a0001c0015t0001g0378 a0001c0003t0001g0183 a0001c0015t0001g0378	2	339	0.0059	96	c.186 others(113): Show c.186+2313_186+2314insGCCCCTCCCCAGGAGAGTCCTCCAGCCC CTCCCCAGGAGAGTCCTCCAGCCCCTCCCCAGGAGAGTCCTCCACCCCCT CCCCAGGAGAGTCCTCCA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085115	C C	CCCTCCCC others(89): Show CCCTCCCCAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCGCCACTC CCTCCCCAGCACAGTCCCCCACTCCCTCCCCAGCACAGTCCCCCACT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0101 a0001c0012t0002g0101	1	295	0.0034	96	c.186 others(113): Show c.186+2655_186+2656insCTCCCCAGCACAGTCCCCCACTCCACTC TCCAGCACAGTCCGCCACTCCCTCCCCAGCACAGTCCCCCACTCCCTCCC CAGCACAGTCCCCCACTC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085115	C C	CCCTCCCC others(89): Show CCCTCCCCAGCACAGTCCCCCACTCCCTTCCCAGCACAGTCCCCCACTCC ACTCTCCAGCACAGTCCGCCACTCCCTCCCCAGCACAGTCCCCCACT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0147 a0001c0004t0006g0147	1	295	0.0034	96	c.186 others(113): Show c.186+2655_186+2656insCTCCCCAGCACAGTCCCCCACTCCCTTC CCAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCGCCACTCCCTCCC CAGCACAGTCCCCCACTC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085115	C C	CCCTCCCC others(89): Show CCCTCCCCAGCACAGTCCGCCACTCCACTCTCCAGCACAGTCCCCCACTC CCTCCCCAGCACAGTCCCCCACTCCCTCCCCAGCACAGTCCCCCACT	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18940.hp1 NA18966.hp2 HG03831.hp2 NA18940.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0002t0004 a0001c0001t0002 a0001c0002t0003 a0001c0002t0004	a0001c0001t0002g0301 a0001c0002t0003g0312 a0001c0002t0004g0281 a0001c0001t0002g0301 a0001c0002t0003g0312 a0001c0002t0004g0281	3	297	0.0101	96	c.186 others(113): Show c.186+2655_186+2656insCTCCCCAGCACAGTCCGCCACTCCACTC TCCAGCACAGTCCCCCACTCCCTCCCCAGCACAGTCCCCCACTCCCTCCC CAGCACAGTCCCCCACTC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085115	C C	CCCTCCCC others(89): Show CCCTCCCCAGCACGGTCCCCCACTCCACTCTCCAGCACAGTCCGCCACTC CCTCCCCAGCACAGTCCCCCACTCCCTCCCCAGCACAGTCCCCCACT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0039 a0001c0003t0001g0039	1	295	0.0034	96	c.186 others(113): Show c.186+2655_186+2656insCTCCCCAGCACGGTCCCCCACTCCACTC TCCAGCACAGTCCGCCACTCCCTCCCCAGCACAGTCCCCCACTCCCTCCC CAGCACAGTCCCCCACTC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085121	T T	TCCAGCAC others(89): Show TCCAGCACAGTCCCCCACTCCCTCCCCAGCACAGTCCCCCACTCCCTCCC CAGCACAGTCCCCCACTCCCTCCCCAGCACAGTCCCCCACTCCCTCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02129.hp1 HG04184.hp1 others(11): Show HG00438.hp1 HG02129.hp1 HG04184.hp1 NA18950.hp2 NA18951.hp1 NA18962.hp2 NA18971.hp1 NA18973.hp1 NA19058.hp1 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0014 a0001c0022 a0001c0029	a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0005t0002 a0001c0005t0008 a0001c0008t0001 a0001c0014t0004 a0001c0022t0001 a0001c0029t0001	a0001c0001t0002g0309 a0001c0001t0002g0338 a0001c0001t0004g0272 others(11): Show a0001c0001t0002g0309 a0001c0001t0002g0338 a0001c0001t0004g0272 a0001c0002t0002g0305 a0001c0002t0004g0308 a0001c0002t0004g0315 a0001c0003t0001g0139 a0001c0003t0001g0297 a0001c0005t0002g0307 a0001c0005t0008g0304 a0001c0008t0001g0268 a0001c0014t0004g0271 a0001c0022t0001g0303 a0001c0029t0001g0273	14	183	0.0765	96	c.186 others(113): Show c.186+2704_186+2705insCTCCCCAGCACAGTCCCCCACTCCCTCC CCAGCACAGTCCCCCACTCCCTCCCCAGCACAGTCCCCCACTCCCTCCCC AGCACAGTCCCCCACTCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085383	C C	CCCCCTCC others(89): Show CCCCCTCCCCAGCACAGTCCCCCACCCCCTCCCCAGCACAGTCCCCCACT CCACTCTCCAGCACAGTCCCTCACCCGCTCACCAGCACAGTCCCTCA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	198	0.0051	96	c.186 others(113): Show c.186+2922_186+2923insCCCCTCCCCAGCACAGTCCCCCACCCCC TCCCCAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCCTCACCCGCT CACCAGCACAGTCCCTCA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21			chr10	TogoVar
PFKP_chr10_3062548_3141802	3085557	C C	CTCCCCAG others(89): Show CTCCCCAGCACAGTCCCCCACTCCCTCCCCAGCACAGTCCCCCACTCCCT CCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0179 a0001c0005t0002g0179	1	224	0.0045	96	c.186 others(113): Show c.186+3116_186+3117insTCCCTCCCCAGCACAGTCCCCCACTCCC TCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTC CCCAGCACAGTCCCCCAC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGAP6_chr16_365788_386978	378516	T T	TGCCATCC others(89): Show TGCCATCCCCACCCGCACTGCCATCGCCACCCGCACTGCCATCCCCACCC GCACTGCCATCGCCACCCGCACTGCCATCGCCACCCACACTGCCATC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00423.hp2 others(28): Show HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp2 HG00733.hp2 HG01106.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01516.hp1 HG02074.hp1 HG02083.hp2 HG02698.hp2 HG03239.hp2 HG03669.hp2 HG03688.hp2 HG04204.hp2 HG04228.hp2 NA18747.hp2 NA18942.hp2 NA18980.hp1 NA18982.hp2 NA18988.hp2 NA19005.hp1 NA19054.hp1 NA19068.hp2 NA19079.hp2 NA20752.hp2 NA20805.hp1	a0002 a0018 a0002 a0018	a0002c0002 a0002c0021 a0018c0013 a0002c0002 a0002c0021 a0018c0013	a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 a0002c0002t0015 a0002c0021t0001 a0018c0013t0001	a0002c0002t0001g0002 a0002c0002t0001g0055 a0002c0002t0001g0061 others(7): Show a0002c0002t0001g0002 a0002c0002t0001g0055 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0065 a0002c0002t0002g0058 a0002c0002t0011g0057 a0002c0002t0015g0059 a0002c0021t0001g0063 a0018c0013t0001g0056	31	45	0.6889	96	c.122 others(111): Show c.122-669_122-668insGATGGCAGTGTGGGTGGCGATGGCAGTGCG GGTGGCGATGGCAGTGCGGGTGGGGATGGCAGTGCGGGTGGCGATGGCAG TGCGGGTGGGGATGGC	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PIAS1_chr15_68049315_68198847	68050492	T T	TATACATA others(89): Show TATACATATATATTCATATATATACATATATATATGAATATATATATTCA TATATATATTCATATATATATGAATATATATATGAATATATATATTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	240	0.0042	96	c.-38 others(107): Show c.-3835_-3834insATACATATATATTCATATATATACATATATATAT GAATATATATATTCATATATATATTCATATATATATGAATATATATATGA ATATATATATTC	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding		3822		chr15	TogoVar
PIBF1_chr13_72777133_73021461	72927996	C C	CATATATA others(89): Show CATATATATATACATATATACATATATATACATATATATATACATATATA CATATATATATACATATATATATACATATATATACATATATATACAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	293	0.0034	96	c.173 others(115): Show c.1731-3160_1731-3159insTACATATATACATATATATACATATA TATATACATATATACATATATATATACATATATATATACATATATATACA TATATATACATATATATATA	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIGG_chr4_494210_545200	535406	G G	GCGTGTAC others(89): Show GCGTGTACTGAAACCGCGCGCCGCGGCCCGGCCTCCTCCCCGGCGTCTCC GTGTGCTGAAACCGCGCGCCGCGGCCCGGCCTCCTCCCCGGCGTCTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01975.hp1 HG02630.hp1 others(10): Show HG01884.hp1 HG01975.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02970.hp1 HG03486.hp2 HG03579.hp2 NA18522.hp1 NA18522.hp2 NA20300.hp1 NA20300.hp2	a0003 a0009 a0003 a0009	a0003c0003 a0009c0010 a0003c0003 a0009c0010	a0003c0003t0002 a0003c0003t0008 a0009c0010t0002 a0003c0003t0002 a0003c0003t0008 a0009c0010t0002	a0003c0003t0002g0007 a0003c0003t0002g0028 a0003c0003t0002g0250 others(7): Show a0003c0003t0002g0007 a0003c0003t0002g0028 a0003c0003t0002g0250 a0003c0003t0002g0264 a0003c0003t0002g0265 a0003c0003t0002g0304 a0003c0003t0008g0124 a0009c0010t0002g0284 a0009c0010t0002g0290 a0009c0010t0002g0291	13	359	0.0362	96	c.273 others(115): Show c.2735+1430_2735+1431insACTGAAACCGCGCGCCGCGGCCCGGC CTCCTCCCCGGCGTCTCCGTGTGCTGAAACCGCGCGCCGCGGCCCGGCCT CCTCCCCGGCGTCTCCGTGT	PIGG	ENSG00000174227.16	transcript	ENST00000453061.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
PIGG_chr4_494210_545200	535424	C C	CGCCGCGG others(89): Show CGCCGCGGCCCGGCCTCCTCCCCGGCGTCTCCGTGTGCTGAAACCGCGCG CCGCGGCCCGGCCTCCTCCCCGGCGTCTCCGTGCGCTGAAACCGCGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0018 a0018	a0018c0026 a0018c0026	a0018c0026t0002 a0018c0026t0002	a0018c0026t0002g0036 a0018c0026t0002g0036	1	243	0.0041	96	c.273 others(115): Show c.2735+1443_2735+1444insGCCGCGGCCCGGCCTCCTCCCCGGCG TCTCCGTGTGCTGAAACCGCGCGCCGCGGCCCGGCCTCCTCCCCGGCGTC TCCGTGCGCTGAAACCGCGA	PIGG	ENSG00000174227.16	transcript	ENST00000453061.7	protein_coding	12/12			chr4	TogoVar

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