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
NKX6-1_chr4_84486985_84504292	84503755	T T	TGCTCACC others(282): Show TGCTCACCCCCCTCTCCCTCCTGCCTCTTCCTCTCCTGTCCTGCTCCCCC CCTGCACCCCTCCCTGCCCTCTCTGTCTCTTCCCATCTTCTTCCCTCCCT CCCTCTCTCTCTGCCTCCTGCCTGCTAAAATTCTCTGCCCCTCCTCTCCC CCTCCTGACTTCTCTGCCCCTCCCTCTGCTCTCCCTGTCTCCCTCCTCTT CTCTTCTCTCCCTGCCCCCTCCTCCTGCTTCCCCCTGCCTGCCTGCTCTC TCTCCTCCTGCCCCTGCCCCTGCCTCTCCCCTCATCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	289	c.-55 others(300): Show c.-5528_-5527insCAGAGATGAGGGGAGAGGCAGGGGCAGGGGCAGG AGGAGAGAGAGCAGGCAGGCAGGGGGAAGCAGGAGGAGGGGGCAGGGAGA GAAGAGAAGAGGAGGGAGACAGGGAGAGCAGAGGGAGGGGCAGAGAAGTC AGGAGGGGGAGAGGAGGGGCAGAGAATTTTAGCAGGCAGGAGGCAGAGAG AGAGGGAGGGAGGGAAGAAGATGGGAAGAGACAGAGAGGGCAGGGAGGGG TGCAGGGGGGGAGCAGGACAGGAGAGGAAGAGGCAGGAGGGAGAGGGGGG TGAGC	NKX6-1	ENSG00000163623.10	transcript	ENST00000295886.5	protein_coding		4464		chr4	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(282): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGGGG GGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	157	0.0064	289	c.91+ others(302): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(282): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	157	0.0064	289	c.91+ others(302): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPHP4_chr1_5857811_5997425	5874228	T T	TAAAGAAA others(282): Show TAAAGAAAATTAGGTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCTGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0006 a0001c0034t0006	a0001c0034t0006g0206 a0001c0034t0006g0206	1	187	0.0053	289	c.323 others(306): Show c.3231+242_3231+243insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGC AATCTCAGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAACC TAATTTTCTTT	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	22/29			chr1	TogoVar
NPRL3_chr16_80386_143673	82225	T T	TCTCCGGG others(282): Show TCTCCGGGAAGCCCTCCTGAATACTCCCCCGGCGCTGACCCCTTCTTCCC ACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGACCCCT TCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATACTCCCCCGGCG CTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCT CCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCT GAATACTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0030 a0002c0004t0001g0030	1	54	0.0185	289	c.44 others(300): Show c.4479_*4480insGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGA GTATTCAGGAGGGCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGT GTGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGG GGTCAGCGCCGGGGGAGTATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTG GGAAGAAGGGGTCAGCGTGGGGAGCATTCAGGAGGGCTTCCCGGAGGTAG GGTGGTGGGAAGAAGGGGTCAGCGCCGGGGGAGTATTCAGGAGGGCTTCC CGGAG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3160		chr16	TogoVar
NSUN4_chr1_46335807_46370018	46337331	T T	TAAAAATA others(282): Show TAAAAATACAAAAGAAGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCTGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0010 a0005c0005t0010	a0005c0005t0010g0017 a0005c0005t0010g0017	1	281	0.0036	289	c.-34 others(300): Show c.-3496_-3495insAAAAATACAAAAGAAGCGGGTGGATCATGAGGTC AGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGCGGTGGCTGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTT GCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding		3475		chr1	TogoVar
NUDCD1_chr8_109235919_109339087	109337068	T T	TCATTTAA others(282): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02896.hp2 HG01123.hp1 HG02896.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0008 a0003c0003t0003 a0003c0003t0008	a0003c0003t0003g0185 a0003c0003t0008g0039 a0003c0003t0003g0185 a0003c0003t0008g0039	2	314	0.0064	289	c.-30 others(300): Show c.-3059_-3058insCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTTT AAATG	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding		2982		chr8	TogoVar
ORC4_chr2_147925396_148025737	148019816	T T	TAAATCCT others(282): Show TAAATCCTTTCTTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCA CGAGGTCAAGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGAGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0020 a0001c0001t0026g0020	1	334	0.0030	289	c.-18 others(304): Show c.-18+816_-18+817insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CTTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAAG AAAGGATTT	ORC4	ENSG00000115947.14	transcript	ENST00000392857.10	protein_coding	1/13			chr2	TogoVar
OTOF_chr2_26452203_26483124	26476523	C C	CCCCTTCC others(282): Show CCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCACCC CTTCCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCC TTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCCCTT CCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCCTTCCCCCACCCCTTC CCCCACCTCCTTCCCCACCCCTTCCCCCACGTCCTTCCCCACCCCTTCCC CCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	260	0.0038	289	c.436 others(304): Show c.436-207_436-206insCTGGGGAAGGAGGTGGGGGAAGGGGTGGGG AAGGAGGTGGGGGAAGGGGTGGGGAAGGACGTGGGGGAAGGGGTGGGGAA GGAGGTGGGGGAAGGGGTGGGGGAAGGGGGTGGGGAAGGAGGTGGGGGAA GGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGA GGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGG TGGGGGGAAGGGGTGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTG GGGGAAGGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26563756	26476523	C C	CCCCTTCC others(282): Show CCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCACCC CTTCCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCC TTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCCCTT CCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCCTTCCCCCACCCCTTC CCCCACCTCCTTCCCCACCCCTTCCCCCACGTCCTTCCCCACCCCTTCCC CCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0001 a0004c0024t0001	a0004c0024t0001g0052 a0004c0024t0001g0052	1	234	0.0043	289	c.267 others(306): Show c.2677-207_2677-206insCTGGGGAAGGAGGTGGGGGAAGGGGTGG GGAAGGAGGTGGGGGAAGGGGTGGGGAAGGACGTGGGGGAAGGGGTGGGG AAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGGTGGGGAAGGAGGTGGGGG AAGGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAG GAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGA GGTGGGGGGAAGGGGTGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGG TGGGGGAAGGG	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
PAK5_chr20_9532370_9844076	9660319	T T	TAAGATTA others(282): Show TAAGATTATTTTACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAG AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0089 a0003c0003t0003g0089	1	171	0.0058	289	c.-11 others(308): Show c.-11-15981_-11-15980insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGG GATGGTCTCGATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA GTAAAATAATCTT	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	2/9			chr20	TogoVar
PCDH9_chr13_66297834_67235336	66429055	A A	AGCACATG others(282): Show AGCACATGCAGTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATT TTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0036 a0001c0003t0005g0036	1	41	0.0244	289	c.334 others(312): Show c.3341-124028_3341-124027insAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGG CGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAACAAA AAAAAAACTGCATGTGC	PCDH9	ENSG00000184226.15	transcript	ENST00000377865.7	protein_coding	4/4			chr13	TogoVar
PDE6B_chr4_620573_675782	660975	A A	AGTTGGAT others(282): Show AGTTGGATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATAGT TGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGTTGGA TAAATGGATGGGTGGGTGGGTGGGCGGGCCAATGGTAGTTGGATGGTTGG ATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATA AATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATAAAT TGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	5	0.2000	289	c.161 others(306): Show c.1614+379_1614+380insATGGGTGGGTGGGCCAATGGTAGTTGGA TAGTTGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGT TGGATAAATGGATGGGTGGGTGGGTGGGCGGGCCAATGGTAGTTGGATGG TTGGATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTG GATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGAT AAATTGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGA TAAATGGATGG	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	660975	A A	AGTTGGAT others(282): Show AGTTGGATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATAGT TGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGTTGGA TAAATTGATGGATGGGTGGGTGGGCGGGCCAATGGTAGTTGGATGGTTGG ATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATA AATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATAAAT GGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03130.hp2 HG03579.hp2 others(1): Show HG02257.hp2 HG03130.hp2 HG03579.hp2 NA18906.hp1	a0001 a0011 a0001 a0011	a0001c0005 a0011c0020 a0001c0005 a0011c0020	a0001c0005t0001 a0011c0020t0001 a0001c0005t0001 a0011c0020t0001	a0001c0005t0001g0245 a0001c0005t0001g0246 a0001c0005t0001g0247 others(1): Show a0001c0005t0001g0245 a0001c0005t0001g0246 a0001c0005t0001g0247 a0011c0020t0001g0064	4	8	0.5000	289	c.161 others(306): Show c.1614+379_1614+380insATGGGTGGGTGGGCCAATGGTAGTTGGA TAGTTGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGT TGGATAAATTGATGGATGGGTGGGTGGGCGGGCCAATGGTAGTTGGATGG TTGGATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTG GATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGAT AAATGGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGA TAAATGGATGG	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	660975	A A	AGTTGGAT others(282): Show AGTTGGATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATAGT TGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGTTGGA TAAATTGATGGATGGGTGGGTGGGCGGGCCAATGGTAGTTGGATGGTTGG ATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATA AATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATAAAT TGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(209): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0003 a0007 others(6): Show a0001 a0003 a0007 a0012 a0013 a0014 a0015 a0016 a0017	a0001c0001 a0001c0002 a0001c0012 others(12): Show a0001c0001 a0001c0002 a0001c0012 a0001c0015 a0001c0022 a0001c0024 a0003c0006 a0003c0010 a0007c0027 a0012c0031 a0013c0016 a0014c0023 a0015c0019 a0016c0014 a0017c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0002t0002 a0001c0012t0003 a0001c0015t0002 a0001c0022t0002 a0001c0024t0002 a0003c0006t0001 a0003c0006t0002 a0003c0006t0007 a0003c0010t0002 a0003c0010t0003 a0007c0027t0002 a0012c0031t0003 a0013c0016t0001 a0014c0023t0003 a0015c0019t0003 a0016c0014t0002 a0017c0030t0007	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(178): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0035 a0001c0001t0002g0052 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0079 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0211 a0001c0001t0002g0217 a0001c0001t0002g0225 a0001c0001t0002g0230 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0054 a0001c0001t0003g0061 a0001c0001t0003g0066 a0001c0001t0003g0071 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0128 a0001c0001t0003g0140 a0001c0001t0003g0171 a0001c0001t0003g0176 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0004g0181 a0001c0001t0004g0186 a0001c0001t0004g0210 a0001c0001t0006g0022 a0001c0001t0006g0125 a0001c0001t0006g0167 a0001c0001t0006g0223 a0001c0001t0007g0143 a0001c0001t0007g0263 a0001c0001t0011g0046 a0001c0001t0013g0002 a0001c0001t0014g0123 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0012t0003g0031 a0001c0012t0003g0032 a0001c0015t0002g0005 a0001c0022t0002g0150 a0001c0024t0002g0047 a0003c0006t0001g0194 a0003c0006t0002g0104 a0003c0006t0007g0193 a0003c0006t0007g0195 a0003c0010t0002g0191 a0003c0010t0002g0192 a0003c0010t0003g0190 a0007c0027t0002g0019 a0012c0031t0003g0073 a0013c0016t0001g0197 a0014c0023t0003g0082 a0015c0019t0003g0074 a0016c0014t0002g0010 a0017c0030t0007g0137	212	216	0.9815	289	c.161 others(306): Show c.1614+379_1614+380insATGGGTGGGTGGGCCAATGGTAGTTGGA TAGTTGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGT TGGATAAATTGATGGATGGGTGGGTGGGCGGGCCAATGGTAGTTGGATGG TTGGATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTG GATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGAT AAATTGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGA TAAATGGATGG	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	660975	A A	AGTTGGAT others(282): Show AGTTGGATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATAGT TGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGTTGGA TAAATTGATGGATGGGTGGGTGGGCGGGCCAATGGTAGTTGGATGGTTGG ATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATA AATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATAAAT TGATGGATGGGTGGGTGGGTGGGCCAATGGTCGTTGGATG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01358.hp2 HG02622.hp2 others(2): Show HG00642.hp2 HG01358.hp2 HG02622.hp2 HG02683.hp1 HG03490.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0007 a0008c0028 a0001c0001 a0004c0007 a0008c0028	a0001c0001t0006 a0004c0007t0008 a0008c0028t0008 a0001c0001t0006 a0004c0007t0008 a0008c0028t0008	a0001c0001t0006g0240 a0004c0007t0008g0237 a0004c0007t0008g0238 others(2): Show a0001c0001t0006g0240 a0004c0007t0008g0237 a0004c0007t0008g0238 a0004c0007t0008g0239 a0008c0028t0008g0241	5	9	0.5556	289	c.161 others(306): Show c.1614+379_1614+380insATGGGTGGGTGGGCCAATGGTAGTTGGA TAGTTGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGT TGGATAAATTGATGGATGGGTGGGTGGGCGGGCCAATGGTAGTTGGATGG TTGGATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTG GATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGAT AAATTGATGGATGGGTGGGTGGGTGGGCCAATGGTCGTTGGATGGTTGGA TAAATGGATGG	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	660975	A A	AGTTGGAT others(282): Show AGTTGGATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATAGT TGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGTTGGA TAAATTGATGGATGGGTGGGTGGGCGGGCCAGTGGTAGTTGGATGGTTGG ATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATA AATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATAAAT TGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	5	0.2000	289	c.161 others(306): Show c.1614+379_1614+380insATGGGTGGGTGGGCCAATGGTAGTTGGA TAGTTGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGT TGGATAAATTGATGGATGGGTGGGTGGGCGGGCCAGTGGTAGTTGGATGG TTGGATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTG GATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGAT AAATTGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGA TAAATGGATGG	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	660975	A A	AGTTGGAT others(282): Show AGTTGGATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATAGT TGGATAAATGGATGGATGGGTGGGTGGGCTATGGTAGTTGGATGGTTGGA TAAATTGATGGATGGGTGGGTGGGCGGGCCAATGGTAGTTGGATGGTTGG ATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATA AATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATAAAT TGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	5	0.2000	289	c.161 others(306): Show c.1614+379_1614+380insATGGGTGGGTGGGCCAATGGTAGTTGGA TAGTTGGATAAATGGATGGATGGGTGGGTGGGCTATGGTAGTTGGATGGT TGGATAAATTGATGGATGGGTGGGTGGGCGGGCCAATGGTAGTTGGATGG TTGGATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTG GATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGAT AAATTGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGA TAAATGGATGG	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE8B_chr5_77205680_77433256	77254224	T T	TAGAAATT others(282): Show TAGAAATTGAGAGGTGTCCGCATATTCTCACTCATAGGTGGGAATTGAAC AATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGT GGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACTAATGC TAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0196 a0001c0002t0001g0196	1	311	0.0032	289	c.339 others(308): Show c.339+42977_339+42978insCGCATATTCTCACTCATAGGTGGGAA TTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGG GACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATAC TAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGT ATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAG AGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA ATTGAGAGGTGTC	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDGFA_chr7_492258_524846	510510	C C	CAGGGCTC others(282): Show CAGGGCTCACCTTGACGCTGCGGTGGTGGACGCGGGAGGGACCCTGGCTG CTAGGTAGGGGCGGCCCTTGGGCTCGGGTGGGGAGGGGAGGGGAGGGGAG GGGAGAGGAGGGGAGGGGCAGGGCTCACCTTGACGCTGTGGTGGTGGATG CAGGAGGGACCCTGGCTGCTTGGTAGGGGCGGCCCCGGGCTTGGGTGGGG AGGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGAGGAGAGGAGGGGAGGGG AGGGGAGAGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02965.hp2 HG01109.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0102 a0001c0001t0001 a0001c0001t0102	a0001c0001t0001g0270 a0001c0001t0102g0235 a0001c0001t0001g0270 a0001c0001t0102g0235	2	300	0.0067	289	c.453 others(304): Show c.453+298_453+299insCCCCTCCCCTCCCCTCCCCTCCCCTCCTCT CCTCTCCCCTCCCCTCCCCTCCTCTCCTCTCCCCTCCCCTCCTCTCCCCT CCCCTCCCCTCCCCACCCAAGCCCGGGGCCGCCCCTACCAAGCAGCCAGG GTCCCTCCTGCATCCACCACCACAGCGTCAAGGTGAGCCCTGCCCCTCCC CTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCACCCGAGCCCAAGGGCCGC CCCTACCTAGCAGCCAGGGTCCCTCCCGCGTCCACCACCGCAGCGTCAAG GTGAGCCCT	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	4/5			chr7	TogoVar
PEX10_chr1_2398974_2417564	2401346	C C	CTCCTCCC others(282): Show CTCCTCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTTCC CTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTTCCTCCCTCC TCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTT CCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTC CCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCC CTCCTCCTTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 NA21309.hp1 HG02922.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0026 a0001c0001t0014g0026	2	321	0.0062	289	c.44 others(300): Show c.4419_*4420insAGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAAG GAGGAGGGAGGAAGGAGGAGGGAGGGAGGAGGAGGGAGGAAGGAGGGAGG AGGGGGGAGGAGGGAGGGAGGAGGGGGAGGGAGGAGGGGGAGGAGGGAGG AGGAGGAAGAAGGGAGGAGGAGGGAGGAAGAAGGGAGGAGGGAGGAGGAG GGAGGAGGAGGGAGGAAGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAGG AGGGAGGGAAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGGAGGAGGGAGG GAGGA	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2627		chr1	TogoVar
PGAM5_chr12_132705842_132727734	132718361	T T	TGTCCTGG others(282): Show TGTCCTGGGTGGGGGGTCCTGGGTGGGGGTGTCCTGGGTGGGGGGGTCCT GGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGG TGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGGTCCTGGGTGGGG GGTCCTGGGTGGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTC CTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTG GGTGGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0054 a0001c0001t0008g0054	1	388	0.0026	289	c.719 others(304): Show c.719+254_719+255insGGTCCTGGGTGGGGGTGTCCTGGGTGGGGG GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGT GCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGGTCCTGG GTGGGGGGTCCTGGGTGGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGG GGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGC GTGCTGGGTGGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCC TGGGTGGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAP6_chr16_365788_386978	378243	C C	CACTGCCA others(282): Show CACTGCCATCCCCACCCGCACTGCCATCGCCACCCGCACTGCCATCGCCA CCCGCACTGCCATCCCCACCCGCACTGCCATCCCCACCCACACTGCCATC GCCACCCGCACTGCCATCCCCACCCGCACTGCCATCGCCACCCTGACTGC CATCGCCACCCTGACTGCCATCGCCACCCGCACTGACATCGCCACCCGCA CTGCCATCGCTACCCCGCACTGCCATCGCCACTCTGACTGCCATCCCCAC CCGCACTGCCATCCCCACCCGCACTGCCATCGCCACTCTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0106 a0001c0004t0001g0106	1	313	0.0032	289	c.122 others(304): Show c.122-396_122-395insCAGAGTGGCGATGGCAGTGCGGGTGGGGAT GGCAGTGCGGGTGGGGATGGCAGTCAGAGTGGCGATGGCAGTGCGGGGTA GCGATGGCAGTGCGGGTGGCGATGTCAGTGCGGGTGGCGATGGCAGTCAG GGTGGCGATGGCAGTCAGGGTGGCGATGGCAGTGCGGGTGGGGATGGCAG TGCGGGTGGCGATGGCAGTGTGGGTGGGGATGGCAGTGCGGGTGGGGATG GCAGTGCGGGTGGCGATGGCAGTGCGGGTGGCGATGGCAGTGCGGGTGGG GATGGCAGT	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PKHD1_chr6_51610299_52092613	51989911	G G	GGAAGGAA others(282): Show GGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAGGAAGGA GGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAG GAAGGAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG06807.hp2 HG03225.hp2 HG06807.hp2	a0037 a0044 a0037 a0044	a0037c0068 a0044c0072 a0037c0068 a0044c0072	a0037c0068t0001 a0044c0072t0001 a0037c0068t0001 a0044c0072t0001	a0037c0068t0001g0091 a0044c0072t0001g0095 a0037c0068t0001g0091 a0044c0072t0001g0095	2	130	0.0154	289	c.575 others(310): Show c.5751+20397_5751+20398insTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTTCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCC CTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCTCC TTCCTTCCTTCCTTC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PLCB1_chr20_8127266_8889900	8661945	A A	ATATATAT others(282): Show ATATATATAATTATATAATTATTATATAATTATATATAATTATATAATTA TTATATAATTATATATAATTATATAATTATTTATTATATAATTATATATA ATTATATAATTATTTATTATATAATTATATATAATTATATAATTATTTAT TATATAATTATATATAATTATATAATTATTTATTATATAATTATATATAA TTATATAATTATTTATTATATAATTATATATAATTATATAATTATTTATT ATATAATTATATATAATTATATAATTATTTATTATATAAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0012 a0001c0008t0012	a0001c0008t0012g0102 a0001c0008t0012g0102	1	85	0.0118	289	c.862 others(306): Show c.862+3263_862+3264insATATAATTATATATAATTATATAATTAT TATATAATTATATATAATTATATAATTATTTATTATATAATTATATATAA TTATATAATTATTTATTATATAATTATATATAATTATATAATTATTTATT ATATAATTATATATAATTATATAATTATTTATTATATAATTATATATAAT TATATAATTATTTATTATATAATTATATATAATTATATAATTATTTATTA TATAATTATATATAATTATATAATTATTTATTATATAATTATATATAATT ATATAATTATT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLPP2_chr19_276043_296403	291551	A A	AGGGGAGG others(282): Show AGGGGAGGGGAGGAGGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGG CGGGGCGGGGAGGGGAGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCG GGGAGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGC AGCGGCGGGCAGGGGAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGA GGAGGGGAGGGAGGGGAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGG CGGGGACGGCAGCGGCGGGCAGGGGAGCAGCGGGCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00438.hp2 others(55): Show HG00140.hp2 HG00423.hp2 HG00438.hp2 HG00733.hp2 HG00741.hp2 HG01070.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02080.hp2 HG02293.hp2 HG02559.hp2 HG02602.hp1 HG02630.hp1 HG03195.hp1 HG03486.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18944.hp1 NA18951.hp2 NA18952.hp1 NA18961.hp2 NA18962.hp1 NA18973.hp2 NA18984.hp1 NA18993.hp1 NA18997.hp2 NA18999.hp1 NA19010.hp1 NA19012.hp2 NA19065.hp1 NA19084.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0006t0001	a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0074 others(28): Show a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0074 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0004g0053 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0072 a0002c0002t0001g0076 a0002c0002t0001g0139 a0002c0002t0001g0142 a0002c0002t0001g0145 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0160 a0002c0002t0002g0077 a0002c0002t0003g0015 a0002c0006t0001g0138	58	334	0.1737	289	c.-21 others(298): Show c.-216_-215insGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGTC CCCGCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCTCCC CTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGCCCGC CGCTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCC TCCCCGCCCCTCCCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCCGC CCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCCCTCCTCCCCTC CCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		149		chr19	TogoVar
POMT1_chr9_131497918_131528799	131522747	G G	GCAATATT others(282): Show GCAATATTGGTGTCCAGGGTGACCCACTCCAGTGGGCTGGAGCTGTACTT GTGTTCCGAGTCATCACTTCTCAGCGCCAGCATCCTCCACTGGAACAAAG CAGAGGCCTCTGAGATTGAGGATGGGGGATGCCTCCCGCTGTGCGTGGAT TTGGTCAAAGGAGTACACTGCTGCCCCTTGCACGTGGACTGGCCCAGCTC AAGTTCATTCGGATCATGCATCGGAGGCAGCATGATGAGAACCTGGATTC CAGCCCTGAATGTGGCCTTGGGAGGGTCGCCCCACCCTAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0178 a0002c0002t0002g0178	1	332	0.0030	289	c.200 others(306): Show c.2004-185_2004-184insCAATATTGGTGTCCAGGGTGACCCACTC CAGTGGGCTGGAGCTGTACTTGTGTTCCGAGTCATCACTTCTCAGCGCCA GCATCCTCCACTGGAACAAAGCAGAGGCCTCTGAGATTGAGGATGGGGGA TGCCTCCCGCTGTGCGTGGATTTGGTCAAAGGAGTACACTGCTGCCCCTT GCACGTGGACTGGCCCAGCTCAAGTTCATTCGGATCATGCATCGGAGGCA GCATGATGAGAACCTGGATTCCAGCCCTGAATGTGGCCTTGGGAGGGTCG CCCCACCCTAT	POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	19/19			chr9	TogoVar
PPP1R9A_chr7_94902594_95301400	95248186	T T	TTAAAAAT others(282): Show TTAAAAATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTGTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0021 a0002c0001t0021	a0002c0001t0021g0285 a0002c0001t0021g0285	1	162	0.0062	289	c.216 others(306): Show c.2166+671_2166+672insATATATATATATTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGTATTTGTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAA TAAAAATATAT	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP3CC_chr8_22436078_22546125	22472245	T T	TAAAAGAC others(282): Show TAAAAGACAAGTACACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATG AGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGG AGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18906.hp2 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0037 a0001c0001t0003g0038	2	306	0.0065	289	c.50- others(304): Show c.50-2695_50-2694insCCAGCACTTTGGGAGGCCGAGGCGGGTGGA TCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAG ACAAGTACA	PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP6R2_chr22_50338327_50450090	50397547	A A	AGGGGGGC others(282): Show AGGGGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGA GGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTC ATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGG CCTGTCCTCACCAGCCTTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCCCTC TGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	181	0.0055	289	c.227 others(306): Show c.227+3417_227+3418insGCCTGTCCTCACCAGCCCTGTCATCCCT CTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGT CCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGG GATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCCCTCTGAGCT TTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACC AGCCTTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCAGGGGGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRKN_chr6_161342417_162732766	161364169	A A	AAAAAAAA others(282): Show AAAAAAAAAAAAAAAAAAAGAAAAGAAAACAAACAAACAAACATGGATGT GGGAGGCCAAGACAGGCAGATCACCAAGTCAGGAGTTTGAGACCGTCCTG ACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGG CGCGGTGGTGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAA GAATGGCGTGAACCCGGGAGGCTGAGCTTGCAGTGAGCCGAGATCACGCC ACTGCACTCCAGCCTGGGCAGCAGAGGGAGACTCCGTCTC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0012 a0002c0007t0012	a0002c0007t0012g0018 a0002c0007t0012g0018	1	32	0.0313	289	c.116 others(308): Show c.1168-3965_1168-3964insGAGACGGAGTCTCCCTCTGCTGCCCA GGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCAGCCTCCCG GGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGG CACCCACCACCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGT TTCACCATGTTGGTCAGGACGGTCTCAAACTCCTGACTTGGTGATCTGCC TGTCTTGGCCTCCCACATCCATGTTTGTTTGTTTGTTTTCTTTTCTTTTT TTTTTTTTTTTTT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	10/11			chr6	TogoVar
PRKX_chrX_3599340_3718649	3639307	G G	GGATGGAT others(282): Show GGATGGATGAAGGGTGGGTGGATGGATGATTGAATGAAGGGGTGGGGGTG GATGGATGAAGGGTGGGTGGATGGATGATTGAATGAAGGGGTGGGGGTGG ATGGATGAAGGGGTGGGGTGGTAGATGGATGAAGGGGTAGAGGGGTGGGG GGGTGGGGGGGGTGGGTGCATGGATGGATGAAGGGGTGGGGGTGGATGGA TGAAGGGGTGGGGTGGTAGATGGATGAAGGGGTGGGGGGGGGTGGATGGA TGAAGGGGTGGGGGTGGATGGATGAAGGGGTGGGGTGGTA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0180 a0001c0001t0008g0180	1	224	0.0045	289	c.719 others(306): Show c.719+2544_719+2545insTACCACCCCACCCCTTCATCCATCCACC CCCACCCCTTCATCCATCCACCCCCCCCCACCCCTTCATCCATCTACCAC CCCACCCCTTCATCCATCCACCCCCACCCCTTCATCCATCCATGCACCCA CCCCCCCCACCCCCCCACCCCTCTACCCCTTCATCCATCTACCACCCCAC CCCTTCATCCATCCACCCCCACCCCTTCATTCAATCATCCATCCACCCAC CCTTCATCCATCCACCCCCACCCCTTCATTCAATCATCCATCCACCCACC CTTCATCCATC	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8			chrX	TogoVar
PRUNE2_chr9_76606376_76911114	76716027	A A	AAAGAAGA others(282): Show AAAGAAGACACACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATT TTCTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0009 a0013c0017t0009	a0013c0017t0009g0178 a0013c0017t0009g0178	1	227	0.0044	289	c.757 others(306): Show c.757-2307_757-2306insGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAGAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATG TGTGTCTTCTT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
PTPN4_chr2_119754922_119989899	119843908	C C	CGGCTGGC others(282): Show CGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGG GGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCACCTCCCT CCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	249	0.0040	289	c.139 others(308): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTG GCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB11FIP3_chr16_420649_528011	504412	G G	GTACCACC others(282): Show GTACCACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCCT CCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCCT CACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCT GTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCC ATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTA CCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02027.hp1 HG02132.hp2 others(1): Show HG01346.hp2 HG02027.hp1 HG02132.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0196 a0001c0001t0006g0212 a0001c0001t0006g0246 others(1): Show a0001c0001t0006g0196 a0001c0001t0006g0212 a0001c0001t0006g0246 a0001c0001t0006g0248	4	188	0.0213	289	c.139 others(308): Show c.1396-1112_1396-1111insTACCACCTCCTCCTGTACCCCCTCAC CTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCAC CCCCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTC CTCCTGCACTCCCATCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCC GCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCT TGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTC ACCTCCTCCTGTA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13			chr16	TogoVar
RABL3_chr3_120679938_120747516	120706613	A A	ACAATTGC others(282): Show ACAATTGCTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGC AGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC GCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG01106.hp2 others(8): Show HG00323.hp1 HG00738.hp1 HG01106.hp2 HG01167.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG02735.hp1 HG04184.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 others(1): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0032	a0001c0001t0004g0075 a0001c0001t0004g0169 a0001c0001t0004g0170 others(8): Show a0001c0001t0004g0075 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0247 a0001c0001t0011g0173 a0001c0001t0012g0253 a0001c0001t0032g0174 a0001c0001t0032g0178	11	324	0.0340	289	c.269 others(304): Show c.269-500_269-499insGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA TAGCAATTG	RABL3	ENSG00000144840.10	transcript	ENST00000273375.8	protein_coding	3/7			chr3	TogoVar
RBFOX3_chr17_79084345_79616051	79495513	G G	GAGGTGGG others(282): Show GAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAGAG GGTGGGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGCAGGGG TACTGGGGCAGGGATGGGGGTGCGGGAAGGTGGGGGAGGGGTGCAGAGGG TGGGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGC AGAGGGTGGGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGCA GGGGTACTGGAGGCAGGGATGGGGGTGCAGGAAGGTGGGA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0105 a0001c0001t0004g0105	1	110	0.0091	289	c.-31 others(310): Show c.-319-12916_-319-12915insTCCCACCTTCCTGCACCCCCATCC CTGCCTCCAGTACCCCTGCCCCCACCTCCCCACCCTCTGCACCCCTCCCC CACCTCCCCACCCTCTGCACCCCTCCCCCACCTCCCCACCCTCTGCACCC CTCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCGCACCCC CATCCCTGCCCCAGTACCCCTGCCCCCACCTCCCCACCCTCTGCACCCCT CCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTCCCCACCCTCTGC ACCCCTCCCCCACCT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(282): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGG GGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGG GGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAG GGGAAGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAG GAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0144 a0001c0001t0006g0144	1	30	0.0333	289	c.36 others(300): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGG GGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGA GGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGA GGGGAGGGGGAGGAGGGGAAGGGGAGGGGGGAGGAGGGGAGGGCGGGGAG GAGGGGACGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGG AGGAG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RER1_chr1_2386841_2410436	2401346	C C	CTCCTCCC others(282): Show CTCCTCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTTCC CTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTTCCTCCCTCC TCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTT CCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTC CCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCC CTCCTCCTTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA21309.hp2 HG02922.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0148 a0001c0001t0017g0189 a0001c0001t0017g0148 a0001c0001t0017g0189	2	321	0.0062	289	c.365 others(304): Show c.365+415_365+416insCCCTCCCTCCTCCCTCCCTCCTCCTCCCTC CTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCC CTCCTTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCC TCCTCCTCCCTTCTTCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCT CCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTC CCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTTCCTCCCTCCTCCTCC CTCCTTCCT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIPOR3_chr20_50581108_50696542	50666181	C C	CCTTTTCT others(282): Show CCTTTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0001 a0001c0034t0001	a0001c0034t0001g0058 a0001c0034t0001g0058	1	272	0.0037	289	c.3+2 others(304): Show c.3+24944_3+24945insAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGA AAAGAAAAG	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNF139_chr8_124469880_124493618	124483012	T T	TGTATATT others(282): Show TGTATATTAATATATATTTAAATTATATAATTTAAATATATTAAATATAT TAATTTAATTTATTAAATATATATATATTAAAATATATATATTAAAATAT GTATATTAATATATATTTAAATTATATAATTTAAATATATTAAATATATT AATTTAATATATTAATTTAAATATATTAAATATATTATATTTAATATATA TATTAAAATATGTATATTAATATATATTTAAATTATATAATTTAAATATA CATATTTAAAAATATATATATTTAAATATATATATTTTTA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG03516.hp1 HG01070.hp1 HG01071.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0027 a0001c0002t0002g0027	3	404	0.0074	289	c.182 others(306): Show c.182-2819_182-2818insGTATATTAATATATATTTAAATTATATA ATTTAAATATATTAAATATATTAATTTAATTTATTAAATATATATATATT AAAATATATATATTAAAATATGTATATTAATATATATTTAAATTATATAA TTTAAATATATTAAATATATTAATTTAATATATTAATTTAAATATATTAA ATATATTATATTTAATATATATATTAAAATATGTATATTAATATATATTT AAATTATATAATTTAAATATACATATTTAAAAATATATATATTTAAATAT ATATATTTTTA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
RNF17_chr13_24759169_24884921	24881980	C C	CTATATAG others(282): Show CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATAT AGATATATAGATACATCTAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATGATATATAGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 NA20752.hp1 HG00323.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0166 a0001c0002t0001g0053 a0001c0002t0001g0166	2	157	0.0127	289	c.22 others(300): Show c.2254_*2255insTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTATATAGATATATAGATACATCTAGATATATAGATACATC TAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATA GATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATGATATATAGATACAT CTAGA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2060		chr13	TogoVar
RTP3_chr3_46492976_46505950	46494948	T T	TGGGAGGG others(282): Show TGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCACCCCCCCCGCCCGGCCAGCTGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCCCGCCCGGCCAGCCGCCCCATCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCAGCCGCCCCGTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02451.hp2 others(14): Show HG01109.hp2 HG01891.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02896.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	17	243	0.0700	289	c.-31 others(300): Show c.-3115_-3114insGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCACCCCCCCCGCCCGGCC AGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCGCCCGGC CAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCAGCCGCCC CGTCC	RTP3	ENSG00000163825.5	transcript	ENST00000296142.4	protein_coding		3027		chr3	TogoVar
SASH1_chr6_148337838_148557044	148481015	T T	TAAAAATG others(282): Show TAAAAATGTTCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATCGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0070 a0003c0008t0003g0070	1	271	0.0037	289	c.628 others(306): Show c.628-6590_628-6589insCTTTGGGAGGCCGAGGCGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGC GGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCAGTCCGCAGTCCGGCCT GGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAATGTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SBNO2_chr19_1102638_1179268	1165840	T T	TCCCAGAT others(282): Show TCCCAGATCTCAGACCCCAGATCCCAGACCCCAAACCCCAGATCCTAGAT CTCAGACCCCAGATCCCAGATCCCAGACCCCAAGATCCCAGACCCCAGAT CCTAGATCCCAGACCTCAGACCCCAGATCCCAGACCCCAAGATCCCAGAC CCCAGATCCTAGATCCCAGACCTCAGACCCCAGATCTCAGACCCCAGATC CCAGACCCCAGATCTCAGACCCCAGATCCCAGACCCCAGATCCTAGATCT CAGACCCCAGATCTCAGACTCCAGACCCCAGATCCCAGAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0001 a0001c0037t0001	a0001c0037t0001g0202 a0001c0037t0001g0202	1	198	0.0051	289	c.-12 others(308): Show c.-127+8331_-127+8332insGTCTGGGATCTGGGGTCTGGAGTCTG AGATCTGGGGTCTGAGATCTAGGATCTGGGGTCTGGGATCTGGGGTCTGA GATCTGGGGTCTGGGATCTGGGGTCTGAGATCTGGGGTCTGAGGTCTGGG ATCTAGGATCTGGGGTCTGGGATCTTGGGGTCTGGGATCTGGGGTCTGAG GTCTGGGATCTAGGATCTGGGGTCTGGGATCTTGGGGTCTGGGATCTGGG ATCTGGGGTCTGAGATCTAGGATCTGGGGTTTGGGGTCTGGGATCTGGGG TCTGAGATCTGGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCARA5_chr8_27864883_27997673	27918986	G G	GAGAAGGA others(282): Show GAGAAGGAGGAGGAGGAGAAAGAGGAGGAGGAGGAAGAGGAGGAAGAGGA GAAAGAGGAGGAAAAGGAGGAGGAGGAGGAAGAGAAAAGGAGGAGGAGGG GAAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAGAAGAAAGGGG AGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGAGAAAAGGAGG AGGAGAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACAGGAGGAGAAGA AGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0007 a0001c0018t0007	a0001c0018t0007g0087 a0001c0018t0007g0087	1	282	0.0035	289	c.916 others(306): Show c.916+2584_916+2585insTTCCCCTCCTCCTCCTTCTTCTCCTTCC CCTCCTCCTCCTTCTTCTCCTCCTGTTCCTCCTTCTCCTTTTCCTCCTCC TTCCCCTCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTCCTCCTTTT CCTCCTCTTTCTCCCCTTTCTTCTCCTCCTCCTTCCCCTCCTCCTCCTTT TCCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTCCTCCTTT TCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTCCTCCTCCTCTTTCTCCTC CTCCTCCTTCT	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(282): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0090 a0001c0002t0007g0090	1	42	0.0238	289	c.916 others(306): Show c.916+2583_916+2584insTCCTCCTCCTTCTCCTTCCCCTCCTCCT CCTTCTTCTCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCC TTCTCCTCCTCCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTTCTC CTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTT CTCCCCTTTCTTCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCT CCTTTTCTCTTCCTCCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCT CCTCTTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SEL1L2_chr20_13844247_13995614	13934358	C C	CATATATA others(282): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	166	0.0060	289	c.115 others(306): Show c.115-2588_115-2587insATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEMA3C_chr7_80737538_80924051	80863886	T T	TGTATGTG others(282): Show TGTATGTGATATGTGATATATATATCACATATCACATACATATGTATCAC ATACATATGTATCACATACATATGTATCACATACATATGTATCACATACA TATGTATCACATACATATGTATCACATACATATGTATCACATACATATGT ATCACATACATATGTATCACATACATATGTATCACATACATATGTATCAC ATACATATGTATCACATACATATGTATCACATACATATGTATCACATACA TATGTATCACATACATATGTATCACATACATATCACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0050 a0001c0007t0003g0050	1	237	0.0042	289	c.104 others(308): Show c.104-35142_104-35141insGTGTGTGATATGTATGTGATACATAT GTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATG TGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATA CATATGTATGTGATACATATGTATGTGATACATATGTATGTGATACATAT GTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATG TGATACATATGTATGTGATACATATGTATGTGATATGTGATATATATATC ACATATCACATAC	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SEMA5A_chr5_9030033_9551075	9246246	A A	AGGGATGG others(282): Show AGGGATGGCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCATTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02976.hp1 HG02280.hp2 HG02976.hp1	a0001 a0001	a0001c0013 a0001c0022 a0001c0013 a0001c0022	a0001c0013t0036 a0001c0022t0055 a0001c0013t0036 a0001c0022t0055	a0001c0013t0036g0008 a0001c0022t0055g0081 a0001c0013t0036g0008 a0001c0022t0055g0081	2	131	0.0153	289	c.271 others(306): Show c.271-8357_271-8356insAGCACTTTGGGAGGCCGAGGCGGGCGGA TCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAACGGTGAAACCCC GTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAATGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA ATAGCCATCCC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	5/22			chr5	TogoVar

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