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
NCS1_chr9_130167404_130242303	130221881	A A	AATATAAA others(88): Show AATATAAATTATGTATATATAAATATATATACATAATATAAATTATGTAT ATATAAATATATATACATAATATAAATTATGTATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01069.hp1 HG01515.hp1 others(9): Show HG00597.hp2 HG01069.hp1 HG01515.hp1 HG01884.hp1 HG01993.hp1 HG02965.hp2 HG03704.hp2 HG03831.hp1 HG04115.hp1 NA18945.hp1 NA19000.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 others(9): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0019 a0001c0001t0030 a0001c0001t0121 a0001c0001t0140 a0001c0001t0146 a0001c0001t0154 a0001c0001t0158 a0001c0001t0188 a0001c0001t0197	a0001c0001t0003g0279 a0001c0001t0005g0027 a0001c0001t0010g0282 others(9): Show a0001c0001t0003g0279 a0001c0001t0005g0027 a0001c0001t0010g0282 a0001c0001t0019g0080 a0001c0001t0030g0176 a0001c0001t0121g0076 a0001c0001t0140g0236 a0001c0001t0146g0333 a0001c0001t0154g0340 a0001c0001t0158g0140 a0001c0001t0188g0287 a0001c0001t0197g0260	12	348	0.0345	95	c.308 others(110): Show c.308-766_308-765insTAAATTATGTATATATAAATATATATACAT AATATAAATTATGTATATATAAATATATATACATAATATAAATTATGTAT ATATAAATATATATA	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NF1_chr17_31089977_31382675	31335277	T T	TATATATA others(88): Show TATATATATATATATATATGTATATAATTATATAGGATTATATGTAGGAT TATATTTATAATATAATCCTACATATAATCCTATATAATTATATAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0141 a0001c0001t0003g0141	1	252	0.0040	95	c.600 others(112): Show c.6006+264_6006+265insGTATATAATTATATAGGATTATATGTAG GATTATATTTATAATATAATCCTACATATAATCCTATATAATTATATACA TATATATATATATATAT	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	40/57		INFO_REALIGN_3_PRIME	chr17	TogoVar
NFE2L3_chr7_26147198_26192137	26148248	G G	GGGGGGGT others(88): Show GGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCCCTCCGGGAGGGAGCTG GGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCCTCCGGGAGGGAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	400	0.0025	95	c.-42 others(106): Show c.-4251_-4250insGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCCC TCCGGGAGGGAGCTGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCCTCC GGGAGGGAGCT	NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding		3949		chr7	TogoVar
NFE2L3_chr7_26147198_26192137	26148328	C C	CCTCCGGG others(88): Show CCTCCGGGAGGGAGCTGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCCT CCGGGAGGGAGCTGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	400	0.0025	95	c.-41 others(106): Show c.-4171_-4170insCTCCGGGAGGGAGCTGGGGGGTCAGCCCCCGCCC GGCCAGCCGCCCCCTCCGGGAGGGAGCTGGGGGGTCAGCCCCCGCCCGGC CAGCCGCCCCG	NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding		3869		chr7	TogoVar
NFE2L3_chr7_26147198_26192137	26148328	C C	CTCCGGGA others(88): Show CTCCGGGAGGGAGCTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCCT CCGGGAGGGAGCTGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0253 a0001c0002t0002g0253	1	400	0.0025	95	c.-41 others(106): Show c.-4171_-4170insTCCGGGAGGGAGCTGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCCTCCGGGAGGGAGCTGGGGGGTCAGCCCCCGCCCGGC CAGCCGCCCCG	NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding		3869		chr7	TogoVar
NFE2L3_chr7_26147198_26192137	26148328	C C	CTCCGGGA others(88): Show CTCCGGGAGGGAGCTGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCCCT CCGGGAGGGAGCTGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0005	1	400	0.0025	95	c.-41 others(106): Show c.-4171_-4170insTCCGGGAGGGAGCTGGGGGGTCAGCCCCCGCCCG GCCAGCCGCCCCCCTCCGGGAGGGAGCTGGGGGGTCAGCCCCCGCCCGGC CAGCCGCCCCG	NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding		3869		chr7	TogoVar
NFE2L3_chr7_26147198_26192137	26148328	C C	CTCCGGGA others(88): Show CTCCGGGAGGGAGCTGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCCTC CGGGAGGGAGCTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	400	0.0025	95	c.-41 others(106): Show c.-4171_-4170insTCCGGGAGGGAGCTGGGGGGTCAGCCCCCGCCCG GCCAGCCGCCCCCTCCGGGAGGGAGCTGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCG	NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding		3869		chr7	TogoVar
NFE2L3_chr7_26147198_26192137	26148370	G G	GCCCCCTC others(88): Show GCCCCCTCCGGGAGGGAGCTGGGGGGTCAGCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGCTGGGGGGTCAGCCCCCGCCCGGCCAGCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01981.hp2 HG01192.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0150 a0001c0001t0001g0063 a0001c0001t0001g0150	2	400	0.0050	95	c.-41 others(106): Show c.-4129_-4128insCCCCCTCCGGGAGGGAGCTGGGGGGTCAGCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGCTGGGGGGTCAGCCCCCGCC CGGCCAGCCGC	NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding		3827		chr7	TogoVar
NHLRC4_chr16_562005_574495	571072	T T	TGTCTGGC others(88): Show TGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00741.hp2 HG02148.hp2 others(1): Show HG00597.hp2 HG00741.hp2 HG02148.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	424	0.0094	95	c.26 others(106): Show c.2653_*2654insGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTA GCCTGGTGCCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1578		chr16	TogoVar
NHLRC4_chr16_562005_574495	571074	T T	TGTCTGGC others(88): Show TGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp2 NA18947.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0001g0001 a0001c0001t0003g0001	2	424	0.0047	95	c.26 others(106): Show c.2655_*2656insGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTA GCCTGGTGCCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1580		chr16	TogoVar
NLGN4X_chrX_5885042_6233867	6049227	A A	AAGGGGAA others(88): Show AAGGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18959.hp1 NA19007.hp1 others(2): Show HG00597.hp2 NA18959.hp1 NA19007.hp1 NA19056.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0083 a0001c0001t0001g0099 others(2): Show a0001c0001t0001g0045 a0001c0001t0001g0083 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0107	5	128	0.0391	95	c.473 others(114): Show c.473-19796_473-19795insCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCTTCCCCT	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	2/5			chrX	TogoVar
NOS1AP_chr1_162064691_162375475	162264464	T T	TCTTCTCT others(88): Show TCTTCTCTTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG04115.hp2 HG00673.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0006 a0001c0002t0001 a0001c0003t0006	a0001c0002t0001g0047 a0001c0003t0006g0012 a0001c0002t0001g0047 a0001c0003t0006g0012	2	182	0.0110	95	c.178 others(114): Show c.178-22879_178-22878insTTCTCTTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCCCCTCCC	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162264464	T T	TCTTCTCT others(88): Show TCTTCTCTTCTCTTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01169.hp2 HG03195.hp1 HG01069.hp1 HG01169.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0001 a0001c0003t0007 a0001c0001t0002 a0001c0002t0001 a0001c0003t0007	a0001c0001t0002g0094 a0001c0002t0001g0022 a0001c0003t0007g0073 a0001c0001t0002g0094 a0001c0002t0001g0022 a0001c0003t0007g0073	3	182	0.0165	95	c.178 others(114): Show c.178-22879_178-22878insTTCTCTTCTCTTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCCCCTCCC	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162264464	T T	TCTTCTCT others(88): Show TCTTCTCTTCTCTTCTCTTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0008 a0001c0003t0003g0008	1	182	0.0055	95	c.178 others(114): Show c.178-22879_178-22878insTTCTCTTCTCTTCTCTTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCCCCTCCC	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOX1_chrX_100838324_100879359	100853333	T T	TTTCTTTC others(88): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTTCTTCCTTCCTTCCTTCCTTGCTTTCTTCCTTGCATC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	302	0.0033	95	c.805 others(112): Show c.805-2009_805-2008insGATGCAAGGAAGAAAGCAAGGAAGGAAG GAAGGAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAA	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NOX1_chrX_100838324_100879359	100853333	T T	TTTCTTTC others(88): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTTCTTCCTTCCTTCCTTCCTTGCTTTCTTCCTTGCGTC	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA20805.hp1 HG02970.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0155 a0001c0001t0001g0159	2	302	0.0066	95	c.805 others(112): Show c.805-2009_805-2008insGACGCAAGGAAGAAAGCAAGGAAGGAAG GAAGGAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAA	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NPIPB8_chr16_28633065_28663744	28661890	G G	GTAAAATG others(88): Show GTAAAATGGGCATAACTGTCATGCCCGTCTTTAAGAACAGCCTTGGGGGT AAATGAGTGGAACTCATGGAAAGATCTCAGCCCACAACCTTCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0001 a0006c0015t0001	a0006c0015t0001g0068 a0006c0015t0001g0068	1	351	0.0029	95	c.32 others(106): Show c.3260_*3261insTAAAATGGGCATAACTGTCATGCCCGTCTTTAAG AACAGCCTTGGGGGTAAATGAGTGGAACTCATGGAAAGATCTCAGCCCAC AACCTTCCACA	NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding		3147		chr16	TogoVar
NTRK2_chr9_84664729_85032054	85004039	A A	AAGAAAGA others(88): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0127 a0001c0001t0041g0127	1	170	0.0059	95	c.217 others(116): Show c.2173-16161_2173-16160insAAAGAAAGAAAGAAAGAAAGAAAG AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAG AAAGAAAAGAAAGAGAGAAAG	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTS_chr12_85869295_85887992	85879216	A A	ATTTTATG others(88): Show ATTTTATGTATATTTTATGTACGTAAAATATATTTTATGTATATTTTATG TACGTAAAATATATTTATATATATATTTTATGTACGTAAAATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0136 a0004c0004t0001g0136	1	420	0.0024	95	c.360 others(110): Show c.360+649_360+650insTTATGTATATTTTATGTACGTAAAATATAT TTTATGTATATTTTATGTACGTAAAATATATTTATATATATATTTTATGT ACGTAAAATATATTT	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
NTS_chr12_85869295_85887992	85879216	A A	ATTTTATG others(88): Show ATTTTATGTATATTTTATGTACGTAAAATATATTTTATGTATATTTTATG TACGTAAAATATATTTTTATATATATTTTATGTACGTAAAATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01928.hp2 HG01952.hp1 others(18): Show HG01175.hp1 HG01928.hp2 HG01952.hp1 HG02074.hp2 HG03041.hp1 HG03927.hp2 NA18941.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18961.hp1 NA18969.hp1 NA18974.hp1 NA18979.hp1 NA18983.hp2 NA18998.hp1 NA19003.hp2 NA19056.hp2 NA19067.hp1 NA19075.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0045 a0001c0001t0001g0112 a0001c0001t0001g0113 others(8): Show a0001c0001t0001g0045 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0125 a0001c0001t0002g0007 a0001c0001t0002g0028 a0001c0001t0002g0059 a0001c0001t0002g0109 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0010g0115	21	420	0.0500	95	c.360 others(110): Show c.360+649_360+650insTTATGTATATTTTATGTACGTAAAATATAT TTTATGTATATTTTATGTACGTAAAATATATTTTTATATATATTTTATGT ACGTAAAATATATTT	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
NUP205_chr7_135552917_135653753	135570788	T T	TAATATAT others(88): Show TAATATATATTATATTAATATATATTAATTATATTAATATATATTATATT AATATATATTAATTATATTAATATATATTATATCAATATATATTAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	352	0.0028	95	c.29- others(108): Show c.29-317_29-316insAATATATATTATATTAATATATATTAATTATA TTAATATATATTATATTAATATATATTAATTATATTAATATATATTATAT CAATATATATTAA	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42			chr7	TogoVar
NXN_chr17_794310_984776	948844	C C	CGGCCTCC others(88): Show CGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCT CTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	242	0.0041	95	c.360 others(114): Show c.360+30474_360+30475insACGGGGAGAGGAGGAGGCAGGGGGGA GAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCC GGGGGGAGAGGAGGAGGCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949166	G G	GGCCTCCT others(88): Show GGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTACTC TCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0059 a0001c0001t0005g0059	1	242	0.0041	95	c.360 others(114): Show c.360+30152_360+30153insAGGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCAGGGGGGAGAGTAGGAGGCCGCGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OBI1_chr13_78609289_78664155	78659312	A A	AAAAAAAA others(88): Show AAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG04115.hp1 HG03688.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0093 a0001c0001t0001g0050 a0001c0001t0001g0093	2	296	0.0068	95	c.-19 others(104): Show c.-193_-192insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTTTTTTTT	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		158		chr13	TogoVar
OCLN_chr5_69487790_69563104	69515567	C C	CGGCTGGC others(88): Show CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGC GGCTGGCCGGGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03195.hp1 HG03225.hp1 others(3): Show HG01074.hp2 HG03195.hp1 HG03225.hp1 HG03579.hp1 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0273 others(3): Show a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0273 a0001c0001t0005g0274 a0001c0001t0005g0275 a0001c0001t0005g0276	6	290	0.0207	95	c.891 others(112): Show c.891+1498_891+1499insAGACGGGGCGGCTGGCCGGGGGGGGGCT GACCCCCCCCACCTCCCTCCCGGACGGGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCC	OCLN	ENSG00000197822.12	transcript	ENST00000396442.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
ODF3L2_chr19_458361_479983	466947	C C	CGGGTGGA others(88): Show CGGGTGGATAGATGGATGGGTGGGTGGTTGGGTGGGTGGGTAGATGGATG AGTGTATGGACGGGTGGATAGATGGTTGGGTGGAGGGTGGAAGGAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03139.hp1 HG03195.hp1 others(2): Show HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03486.hp1 HG03486.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0004 a0006c0010t0004	a0006c0010t0004g0058 a0006c0010t0004g0060 a0006c0010t0004g0066 others(2): Show a0006c0010t0004g0058 a0006c0010t0004g0060 a0006c0010t0004g0066 a0006c0010t0004g0168 a0006c0010t0004g0171	5	324	0.0154	95	c.349 others(110): Show c.349+607_349+701dupATCCTTCCACCCTCCACCCAACCATCTATC CACCCGTCCATACACTCATCCATCTACCCACCCACCCAACCACCCACCCA TCCATCTATCCACCC	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding	3/3			chr19	TogoVar
OMA1_chr1_58475719_58551726	58518272	G G	GGGGAGAG others(88): Show GGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAG GGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	384	0.0026	95	c.121 others(114): Show c.1215+8988_1215+8989insTCCCCTCTCCCCTCTCCCCTCTCCCC TCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCT CTCCCCTCTCCCCTCTCCC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518312	A A	AGGGAGGG others(88): Show AGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0352 a0002c0003t0001g0352	1	384	0.0026	95	c.121 others(114): Show c.1215+8948_1215+8949insCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OR11H4_chr14_20234286_20249349	20238008	T T	TATATTAT others(88): Show TATATTATACATAATATAGATTATATATAATACATATTATATACATATTA TATATATTATATATAATATATATTATATATAATACATATTATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	439	0.0023	95	c.-13 others(106): Show c.-1335_-1334insATATTATACATAATATAGATTATATATAATACAT ATTATATACATATTATATATATTATATATAATATATATTATATATAATAC ATATTATATAC	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1277		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20238008	T T	TATATTAT others(88): Show TATATTATATATAATATATATTATATATAATACATATTATATACATATTA TATATATTATATATAATATATATTATATATAATACATATTATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02622.hp2 NA18522.hp1 HG02486.hp1 HG02622.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0002g0162 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0002g0162	3	439	0.0068	95	c.-13 others(106): Show c.-1335_-1334insATATTATATATAATATATATTATATATAATACAT ATTATATACATATTATATATATTATATATAATATATATTATATATAATAC ATATTATATAC	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1277		chr14	TogoVar
OR51F1_chr11_4763979_4774938	4773810	C C	CCTGCTGC others(88): Show CCTGCTGCGACTATCCACCATCACCTAGGTTTAAGCCCAGAATGCATTAG CTATTTTTCCTAATACTCTCCCTTGCCCCACCTCACCCCTGACGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0000 a0002c0013t0001g0000	1	342	0.0029	95	c.-38 others(106): Show c.-3873_-3872insCCCGTCAGGGGTGAGGTGGGGCAAGGGAGAGTAT TAGGAAAAATAGCTAATGCATTCTGGGCTTAAACCTAGGTGATGGTGGAT AGTCGCAGCAG	OR51F1	ENSG00000280021.3	transcript	ENST00000624103.2	protein_coding		3873		chr11	TogoVar
OR6J1_chr14_22625929_22649352	22636280	C C	CCCTCTCC others(88): Show CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	362	0.0028	95	c.-27 others(112): Show c.-27-1537_-27-1443dupAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22636424	C C	CTCTCCTC others(88): Show CTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCGTCTCCGTCTCCG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	362	0.0028	95	c.-27 others(112): Show c.-27-1587_-27-1586insCGGAGACGGAGACGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGAGA	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OSBPL10_chr3_31655825_31986262	31812718	A A	AAAGAAAG others(88): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0104 a0002c0005t0002g0104	1	186	0.0054	95	c.729 others(114): Show c.729+17321_729+17322insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11			chr3	TogoVar
OSCAR_chr19_54089668_54105803	54096588	C C	CCCTCCTC others(88): Show CCCTCCTCTCTGCCTCCCTCTCTCTCTGCCTCCCTCTCTCTCTGCCTCCC TCTCTCTCTGCCTCCCTCTCTCTCTGCCTGCCTCTCTCTCTGCCTG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0001 a0006c0017t0001	a0006c0017t0001g0226 a0006c0017t0001g0226	1	443	0.0023	95	c.373 others(110): Show c.373+273_373+274insCAGGCAGAGAGAGAGGCAGGCAGAGAGAGA GGGAGGCAGAGAGAGAGGGAGGCAGAGAGAGAGGGAGGCAGAGAGAGAGG GAGGCAGAGAGGAGG	OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding	3/4			chr19	TogoVar
OSGIN1_chr16_83948240_83971332	83951760	T T	TCCTCCCT others(88): Show TCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTTCCTGCCTTCCTCCCTCT TTCCCTTCCTCCCTCTTTCCCTCCCTCTTCCCTTCCTCCTTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0025 a0001c0001t0004g0010 a0001c0001t0004g0025	2	350	0.0057	95	c.-16 others(106): Show c.-1643_-1642insCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTTCC TGCCTTCCTCCCTCTTTCCCTTCCTCCCTCTTTCCCTCCCTCTTCCCTTC CTCCTTCCCTC	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1479		chr16	TogoVar
OSTF1_chr9_75083514_75152265	75139056	T T	TTCTTTCT others(88): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTTCTTTCTTCTTTCTTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0003 a0001c0001t0015g0003	2	366	0.0055	95	c.487 others(112): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTCT TTCTTTCTTTTCTTTCT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OXCT1_chr5_41725065_41875425	41859870	T T	TATATATA others(88): Show TATATATATATATATATATGTAATATATATATATATATGTAATATATATA TATATATATGTAATATATATATATGTAATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02922.hp1 HG02280.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0151 a0001c0001t0001g0154	2	200	0.0100	95	c.278 others(112): Show c.278+1443_278+1444insTACATATATATATATATATTACATATAT ATATATTACATATATATATATATATATTACATATATATATATATATTACA TATATATATATATATAT	OXCT1	ENSG00000083720.13	transcript	ENST00000196371.10	protein_coding	3/16			chr5	TogoVar
P4HA2_chr5_132185147_132232853	132208400	G G	GAGGAGGG others(88): Show GAGGAGGGGGAGGGGAGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGGGG AGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	426	0.0024	95	c.904 others(110): Show c.904-517_904-516insTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCC TCCCCTCCCCCTCCT	P4HA2	ENSG00000072682.20	transcript	ENST00000360568.8	protein_coding	7/14			chr5	TogoVar
PARP16_chr15_65253099_65291883	65269200	C C	CTCTCTCT others(88): Show CTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCCTCTCTCT CCCTCCCTCCCTCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	316	0.0032	95	c.312 others(112): Show c.312+1734_312+1735insAGAGAGAGAGAGAGAGAGAGAGAGGGAG GGAGGGAGGGAGGGAGGGAGAGAGAGGAGAGAGAGAGAGAGAGAGGAGAG AGAGAGAGAGAGAGAGA	PARP16	ENSG00000138617.16	transcript	ENST00000649807.2	protein_coding	2/5			chr15	TogoVar
PAX5_chr9_36828269_37039268	36973083	C C	CGGAAAGG others(88): Show CGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAGAAAAGGAAAGGAAAGGAAAGGAAAGGAAAGAAAAGGAAA	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA18943.hp2 HG01517.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0039 a0001c0001t0033 a0001c0001t0039	a0001c0001t0033g0113 a0001c0001t0039g0001 a0001c0001t0033g0113 a0001c0001t0039g0001	2	274	0.0073	95	c.605 others(112): Show c.605-6360_605-6359insTTTCCTTTTCTTTCCTTTCCTTTCCTTT CCTTTCCTTTTCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCC	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9			chr9	TogoVar
PAX5_chr9_36828269_37039268	36973083	C C	CGGAACGG others(88): Show CGGAACGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGAAAAGGAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0055 a0001c0001t0066g0055	1	274	0.0037	95	c.605 others(112): Show c.605-6360_605-6359insTTTCCTTTTCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCGTTCC	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9			chr9	TogoVar
PAX5_chr9_36828269_37039268	36973135	A A	AAAAGGAA others(88): Show AAAAGGAAAGGAAAGGAAAGGAAAGGAAAGAAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGAAAAGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0130 a0001c0002t0008g0130	1	274	0.0037	95	c.605 others(112): Show c.605-6412_605-6411insCCTTTTCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCTTTCCTTTCCT TTCCTTTCCTTTCCTTT	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9			chr9	TogoVar
PCBP3_chr21_45638725_45947450	45746946	G G	GCACACGG others(88): Show GCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCA CACGGTGTTGTGTCAGCATCGCCATGTCAGTCCATTGACGTAGCGC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	292	0.0034	95	c.-16 others(114): Show c.-161-8458_-161-8457insGTCAGCATCGCCGTGTCAGTCCACTG ACGTAGCGCACACGGTGTTGTGTCAGCATCGCCATGTCAGTCCATTGACG TAGCGCCACACGGTGTTGT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45746946	G G	GCACACGG others(88): Show GCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCA CACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp1 HG01071.hp2 others(27): Show HG00280.hp1 HG01070.hp1 HG01071.hp2 HG01167.hp2 HG01168.hp1 HG01261.hp1 HG01975.hp2 HG02080.hp2 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG03139.hp2 HG03471.hp2 HG03486.hp1 HG03710.hp2 HG03942.hp2 HG04199.hp2 NA18906.hp1 NA18998.hp2 NA19005.hp2 NA19043.hp1 NA19080.hp2 NA19081.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012	a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 others(27): Show a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0003g0007 a0001c0001t0003g0036 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0079 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0103 a0001c0001t0012g0045 a0001c0001t0012g0046	30	292	0.1027	95	c.-16 others(114): Show c.-161-8458_-161-8457insGTCAGCATCGCCGTGTCAGTCCATTG ACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCATTGACG TAGCGCCACACGGTGTTGT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFD_chr11_103902189_104169147	104119077	A A	ATATATCG others(88): Show ATATATCGATATATTATATTAATATAATATATTAATATAATATATTAATA TAATATAATATATCGATATATTATATAATATGTTAATATAATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	200	0.0050	95	c.124 others(114): Show c.124+44726_124+44727insATATATTATATTAACATATTATATAA TATATCGATATATTATATTATATTAATATATTATATTAATATATTATATT AATATAATATATCGATATA	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104119221	T T	TTATATAA others(88): Show TTATATAATATATAATATATTAATCTAATATATTATATAATATATAATAT ATTAATCTAATATATTATATAATATATAATATATTAATCTAATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA19043.hp1 HG01081.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0127 a0001c0002t0001g0126 a0001c0001t0002g0127 a0001c0002t0001g0126	2	200	0.0100	95	c.124 others(114): Show c.124+44582_124+44583insTATATTAGATTAATATATTATATATT ATATAATATATTAGATTAATATATTATATATTATATAATATATTAGATTA ATATATTATATATTATATA	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PERM1_chr1_970198_987093	977809	A A	ACTCCCCC others(88): Show ACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCG GGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02129.hp2 HG02486.hp1 others(5): Show HG02074.hp2 HG02129.hp2 HG02486.hp1 HG03239.hp1 HG03704.hp2 HG03927.hp1 NA18940.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0123 others(4): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0123 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0176 a0001c0001t0007g0033	8	408	0.0196	95	c.214 others(114): Show c.2149+1071_2149+1072insGGGCAGGCGGTTCCCGGGGTTGGTGG GGGGAGTGGGAGGCGGTTCCCGGGTTGGTGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGGTGGGGGGAG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PHACTR3_chr20_59599540_59852711	59822110	G G	GCAGCGAT others(88): Show GCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCC CACCCCTTCCCCAGCGATCCGCCCCCCAACGATCCCACCCCTTCTC	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	250	0.0040	95	c.132 others(116): Show c.1329-14380_1329-14379insTTCCCCAGCGATCCCACCCCTTCC CCAGCGATCCCACCCCTTCCCCAGCGATCCGCCCCCCAACGATCCCACCC CTTCTCCAGCGATCCCACCCC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PIGQ_chr16_564968_589109	571072	T T	TGTCTGGC others(88): Show TGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01993.hp1 HG01993.hp2 others(2): Show HG00639.hp1 HG01993.hp1 HG01993.hp2 HG02148.hp2 HG03017.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0011 a0001c0002 a0003c0011	a0001c0002t0002 a0003c0011t0007 a0001c0002t0002 a0003c0011t0007	a0001c0002t0002g0005 a0001c0002t0002g0300 a0001c0002t0002g0311 others(2): Show a0001c0002t0002g0005 a0001c0002t0002g0300 a0001c0002t0002g0311 a0003c0011t0007g0308 a0003c0011t0007g0312	5	408	0.0123	95	c.-10 others(110): Show c.-10+978_-10+979insCTGGCTAGCCTGTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGC TAGCCTGGTGCCCGT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar

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