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
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(304): Show AGGGAAGGGAAGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGGGG AGGGGGAGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGGAGGGGGGAG GGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGGAGGGAGGGGGGGAGGGGA GGGGGGAGGGAGGGGGGAGGGGAGGGGGGAGGGAGGGGGGAGGGGAGGGG GGAGGGAGGGGGGGAGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGG AGGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGA AGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	302	0.0033	311	c.155 others(328): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCTCCCCCTCCCCTC CCCCCTCCCTCCCCCTCCCTCCCCCCCTCCCTCCCCCCTCCCCTCCCCCC TCCCTCCCCCCTCCCCTCCCCCCTCCCTCCCCCCTCCCCTCCCCCCCTCC CTCCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCCTCCCCCCTC CCCCCTCCCCTCCCCTCCCCTCCTTCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PAMR1_chr11_35426827_35530616	35464681	G G	GAAAAAAA others(304): Show GAAAAAAAGGTCTAGAATGGCTCACGCCTGTGGTCCCAGCACTTTGGGAG GCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCG GTGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTG CAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	378	0.0027	311	c.820 others(328): Show c.820+3319_820+3320insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ACCACAGGCGTGAGCCATTCTAGACCTTTTTTT	PAMR1	ENSG00000149090.13	transcript	ENST00000619888.5	protein_coding	6/10			chr11	TogoVar
PARD3_chr10_34104561_34820296	34605543	A A	ATATATAT others(304): Show ATATATATCTCCTATATATATATATATATATCTCCTATATATATATATCT CCTATATATATATATCTCCTATATATATATCTCCTATATATATATATCTC CTATATATATATATCTCCTATATATATATCTCCTATATATATATATCTCC TATATATATATATCTCCTATATATATATCTCCTATATATATATATCTCCT ATATATATATATCTCCTATATATATATCTCCTATATATATATATCTCCTA TATATATATCTCCTATATATATATATCTCCTATATATATATCTCCTATAT ATATATATCTCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0063 a0001c0003t0001g0063	1	100	0.0100	311	c.223 others(330): Show c.223-88385_223-88384insGGAGATATATATATATAGGAGATATA TATATAGGAGATATATATATATAGGAGATATATATATAGGAGATATATAT ATATAGGAGATATATATATAGGAGATATATATATATAGGAGATATATATA TATAGGAGATATATATATAGGAGATATATATATATAGGAGATATATATAT ATAGGAGATATATATATAGGAGATATATATATATAGGAGATATATATATA TAGGAGATATATATATAGGAGATATATATATATAGGAGATATATATATAT AGGAGATATATATATATATATATAGGAGATATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARP14_chr3_122675839_122735840	122726893	T T	TAATTTTA others(304): Show TAATTTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02129.hp2 HG02027.hp1 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0244 a0001c0001t0002g0215 a0001c0001t0002g0244	2	366	0.0055	311	c.494 others(328): Show c.4942-912_4942-911insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAATTTTA	PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(304): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACACATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	311	c.70 others(322): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTAATACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATGT ATTACATATATGTAATACACATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(304): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	400	0.0025	311	c.70 others(322): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATGT ATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(304): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03927.hp2 HG03492.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	400	0.0050	311	c.70 others(322): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCC others(304): Show CCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCC AGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCA CTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCC CACCCACTGCCCAGATACAGACCTGGCCCACCCACTGCCCAGATACGGAC CCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGA TACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTG CCCAGATACGGA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	292	0.0034	311	c.471 others(326): Show c.471+314_471+315insCACCCACTGCCCAGATACGGACCCCCCCCC ACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACC CCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATA CGGACCCCCCCCACCCACTGCCCAGATACAGACCTGGCCCACCCACTGCC CAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACC CACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCC CCCACCCACTGCCCAGATACGGACCCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCC others(304): Show CCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGA TACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCGCCCACTG CCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCG CCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACC CCCCCCGCCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATA CGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCGCCCACTG CCCAGATACGGA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	292	0.0034	311	c.471 others(326): Show c.471+313_471+314insGCCCACTGCCCAGATACGGACCCCCCCCAC CCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCC CCCCGCCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATAC GGACCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCC CAGATACGGACCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCCACCC ACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCC CCCCGCCCACTGCCCAGATACGGACCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCDH11X_chrX_91774375_92628230	92550269	T T	TAAAAAGC others(304): Show TAAAAAGCATATTAGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACG GTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGTGG CGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCACT CCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	154	0.0065	311	c.336 others(332): Show c.3368-67982_3368-67981insGCCGGGCGTGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCAGTGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCG CGCCACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCATATTA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	10/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCGF3_chr4_700832_775089	715893	C C	CTGTGAGT others(304): Show CTGTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTAGACACTGAG TGTGAGAACTGGGCGTCGGTGCTGGAACCCTGTAGACACTGTGAGTGTGA GAACCGGGCGTCGGTGCTGGGACCCTGTAGACACTGTGAGTGTGAGAACT GGGCGTCTGTGCTGGGACCCTGTAGACACTTAGTGTGAGAACTGGGCGTG GGTGCTGGGACCCTCTAGACACTGTGAGTGTGAGAACTGGGCGTCGGTGC TGGGACTCTGTAGACACTGAGTGTGAGAACTGGGCGTGGGTGCTGGGACC CTCTAGACACTG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0006 a0001c0001t0061g0006	1	366	0.0027	311	c.-19 others(330): Show c.-190+9925_-190+9926insTGAGTGTGAGAACTGGGCGTCGGTGC TGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGAACC CTGTAGACACTGTGAGTGTGAGAACCGGGCGTCGGTGCTGGGACCCTGTA GACACTGTGAGTGTGAGAACTGGGCGTCTGTGCTGGGACCCTGTAGACAC TTAGTGTGAGAACTGGGCGTGGGTGCTGGGACCCTCTAGACACTGTGAGT GTGAGAACTGGGCGTCGGTGCTGGGACTCTGTAGACACTGAGTGTGAGAA CTGGGCGTGGGTGCTGGGACCCTCTAGACACTGTG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCSK5_chr9_75885673_76367975	76280866	T T	TAAAAAAG others(304): Show TAAAAAAGAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02630.hp1 HG02647.hp2 HG00642.hp1 HG02630.hp1 HG02647.hp2	a0002 a0014 a0017 a0002 a0014 a0017	a0002c0046 a0014c0032 a0017c0101 a0002c0046 a0014c0032 a0017c0101	a0002c0046t0010 a0014c0032t0009 a0017c0101t0030 a0002c0046t0010 a0014c0032t0009 a0017c0101t0030	a0002c0046t0010g0125 a0014c0032t0009g0127 a0017c0101t0030g0140 a0002c0046t0010g0125 a0014c0032t0009g0127 a0017c0101t0030g0140	3	166	0.0181	311	c.314 others(332): Show c.3143-11357_3143-11356insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAGA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	24/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PDGFD_chr11_103902189_104169147	104140465	T T	TAAAACAT others(304): Show TAAAACATGTTCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18979.hp2 NA18995.hp2 NA18964.hp2 NA18979.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0119 a0001c0001t0002g0139 a0001c0002t0001g0135 a0001c0001t0002g0119 a0001c0001t0002g0139 a0001c0002t0001g0135	3	200	0.0150	311	c.124 others(330): Show c.124+23338_124+23339insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTTGAACATGTTTT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDS5B_chr13_32581452_32783019	32731543	T T	TAACATAA others(304): Show TAACATAACATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG04184.hp2 HG02257.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0035 a0001c0001t0023 a0001c0001t0035	a0001c0001t0023g0298 a0001c0001t0035g0300 a0001c0001t0023g0298 a0001c0001t0035g0300	2	334	0.0060	311	c.212 others(328): Show c.2124-548_2124-547insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAACATAACAT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	19/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32731543	T T	TAACATAA others(304): Show TAACATAACATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0299 a0001c0001t0023g0299	1	334	0.0030	311	c.212 others(328): Show c.2124-548_2124-547insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAACATAACAT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	19/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32731543	T T	TAACATAA others(304): Show TAACATAACATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp2 HG02895.hp1 others(4): Show HG02647.hp1 HG02809.hp2 HG02895.hp1 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0017 a0001c0001t0008 a0001c0001t0017	a0001c0001t0008g0304 a0001c0001t0008g0305 a0001c0001t0008g0306 others(4): Show a0001c0001t0008g0304 a0001c0001t0008g0305 a0001c0001t0008g0306 a0001c0001t0008g0307 a0001c0001t0008g0308 a0001c0001t0017g0303 a0001c0001t0017g0312	7	334	0.0210	311	c.212 others(328): Show c.2124-548_2124-547insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAACATAACAT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	19/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDZRN4_chr12_41183320_41579745	41429793	T T	TCTTATTT others(304): Show TCTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02896.hp2 HG02897.hp2 others(2): Show HG02559.hp2 HG02896.hp2 HG02897.hp2 HG03139.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0084 a0001c0001t0001g0119 a0001c0001t0002g0154 others(2): Show a0001c0001t0001g0084 a0001c0001t0001g0119 a0001c0001t0002g0154 a0001c0001t0002g0155 a0002c0002t0001g0087	5	206	0.0243	311	c.844 others(330): Show c.844-76653_844-76652insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCTTATTTTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PERM1_chr1_970198_987093	976875	C C	CAACCCCG others(304): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGA ACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCAC CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCG	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	408	0.0025	311	c.215 others(328): Show c.2150-252_2150-251insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGCGGGGGCAGGCG GTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGTTGGTGGGG GGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCC CGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAG TGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977476	C C	CCAACCCC others(304): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACC AACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTC CCACTCCCCCCG	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	408	0.0025	311	c.215 others(328): Show c.2150-853_2150-852insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGA GGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCG GGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGT TCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGA GTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGG GTTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PHACTR4_chr1_28364740_28505364	28395818	A A	ATTTTTTT others(304): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTAC AGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCTGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0119 a0001c0003t0004g0119	1	228	0.0044	311	c.-38 others(330): Show c.-38-11568_-38-11567insTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACA GGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCTGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCTTTTTTTTTTTTTTTTTTTTTTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHACTR4_chr1_28364740_28505364	28395818	A A	ATTTTTTT others(304): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTA CAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCTGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG01891.hp2 HG02055.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0024 a0001c0006t0024	a0001c0006t0024g0117 a0001c0006t0024g0118 a0001c0006t0024g0117 a0001c0006t0024g0118	2	228	0.0088	311	c.-38 others(330): Show c.-38-11568_-38-11567insTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTAC AGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCTGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCTTTTTTTTTTTTTTTTTTTTTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHYHIPL_chr10_59171643_59252770	59225143	T T	TAAGAAAT others(304): Show TAAGAAATGAAAATAGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTAGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0138 a0002c0002t0001g0138	1	202	0.0050	311	c.107 others(328): Show c.107-9143_107-9142insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTAGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAGAAATGAAAATAGAGG	PHYHIPL	ENSG00000165443.12	transcript	ENST00000373880.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
PIEZO2_chr18_10665247_11154569	10911127	G G	GAAGAAAT others(304): Show GAAGAAATTACTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19240.hp2 HG02717.hp2 NA19240.hp2	a0001 a0020 a0001 a0020	a0001c0024 a0020c0066 a0001c0024 a0020c0066	a0001c0024t0001 a0020c0066t0002 a0001c0024t0001 a0020c0066t0002	a0001c0024t0001g0156 a0020c0066t0002g0119 a0001c0024t0001g0156 a0020c0066t0002g0119	2	158	0.0127	311	c.329 others(324): Show c.329+58_329+59insTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCAGTAATTTCTT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10911130	G G	GAAATTAC others(304): Show GAAATTACTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGC TAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0054 a0003c0011t0001g0054	1	158	0.0063	311	c.329 others(324): Show c.329+55_329+56insTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCAGTAATTT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PLAT_chr8_42169718_42212565	42182378	T T	TGTAGTGT others(304): Show TGTAGTGTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGG ACTACAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	378	0.0027	311	c.803 others(326): Show c.803+340_803+341insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAACTACAAAA AATAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAGAACACTAC	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	8/13			chr8	TogoVar
PLAT_chr8_42169718_42212565	42182378	T T	TGTAGTGT others(304): Show TGTAGTGTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGG ACTACAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(128): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00733.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02071.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02523.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG03017.hp1 HG03041.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18944.hp2 NA18947.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18957.hp1 NA18961.hp2 NA18964.hp1 NA18966.hp2 NA18970.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19060.hp2 NA19065.hp1 NA19066.hp1 NA19074.hp2 NA19081.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0004 a0001c0009 others(2): Show a0001c0001 a0001c0004 a0001c0009 a0004c0013 a0007c0014	a0001c0001t0001 a0001c0004t0001 a0001c0009t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0009t0001 a0004c0013t0001 a0007c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(104): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0251 a0001c0001t0001g0269 a0001c0001t0001g0280 a0001c0001t0001g0317 a0001c0001t0001g0323 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0004t0001g0010 a0001c0004t0001g0067 a0001c0004t0001g0070 a0001c0004t0001g0137 a0001c0004t0001g0185 a0001c0004t0001g0186 a0001c0004t0001g0187 a0001c0009t0001g0142 a0004c0013t0001g0063 a0007c0014t0001g0211	131	378	0.3466	311	c.803 others(326): Show c.803+340_803+341insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAACTACAAAA AATAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAGAACACTAC	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	8/13			chr8	TogoVar
PLAT_chr8_42169718_42212565	42182378	T T	TGTAGTGT others(304): Show TGTAGTGTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGG ACTACAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01123.hp2 HG01255.hp1 others(16): Show HG01070.hp2 HG01123.hp2 HG01255.hp1 HG01346.hp2 HG01361.hp2 HG01516.hp1 HG02486.hp1 HG02698.hp2 HG03490.hp2 HG03540.hp2 HG03688.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA18969.hp2 NA19043.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0062 a0001c0001t0001g0109 others(14): Show a0001c0001t0001g0007 a0001c0001t0001g0062 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0148 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0219 a0001c0001t0001g0257	19	378	0.0503	311	c.803 others(326): Show c.803+340_803+341insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAACTACAAAA AATAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAGAACACTAC	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	8/13			chr8	TogoVar
PLEKHN1_chr1_961482_980865	977476	C C	CCAACCCC others(304): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACC AACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTC CCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	311	c.29 others(322): Show c.2901_*2902insCAACCCCGGGAACCGCCTGCCCCCGCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAAC CCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1612		chr1	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(304): Show TTTATATATAATATATAATATATATTTATATAAAAATATATTATATATAA TATAATATATATTATATATAATATATATTTATATATAATATATATTATAT ATAAAAATATATTTATATATATTATATTATATATAATATATTATATATAT TATATTATATATAATATATTATATATATTATATATAATATATTATATATA TTATATTATATATAATATATTATATATATTATATATAATATATTATATAT ATTATATTATATATAATATATTATATATATTATATTATATATAATATATT ATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	286	0.0035	311	c.-50 others(322): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATAATATATATAATATATTATATATAA TATATATAATATATTATATATAATATAATATATATAATATATTATATATA ATATATATAATATATTATATATAATATAATATATATAATATATTATATAT AATATAATATATATAAATATATTTTTATATATAATATATATTATATATAA ATATATATTATATATAATATATATTATATTATATATAATATATTTTTATA TAAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PRKD1_chr14_29571479_29932847	29575102	T T	TTTGTTTA others(304): Show TTTGTTTATTCACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGCGATCTCGGCTCACTGCAGGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGC TACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC GTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTC GGCCTCCCAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0092 a0001c0016t0001g0092	1	156	0.0064	311	c.21 others(322): Show c.2135_*2136insCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCCT GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAGAAGTGAATAAACAA	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding		1376		chr14	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CTTCCTCC others(304): Show CTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACC TCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTC TCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCC ACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCT CCCCTCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	227	0.0044	311	c.23 others(322): Show c.2397_*2398insTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCT TCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTC TCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCT TCCCTGTCTCCACCTCCCCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PSPC1_chr13_19697500_19787945	19779141	C C	CCCGTCTG others(304): Show CCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCTGCCCCGTCTGAG AAGTGAGGAGCATCTCCGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAG CGCCTCTTCCCAGCCGCCATCACATTTAGGAAGTGAGGAGCGTCTCTGCC CGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCTGCCCCA TCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGAGACCCCGTCTGGGAGGT GAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCT GCCTGGCAACCG	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	258	0.0039	311	c.372 others(328): Show c.372+3244_372+3245insCGGTTGCCAGGCAGAGGGTCTCCTCACT TCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCAGACGGGGT CTCGGCCGGGCAGAGGCGCTCCTCACATCCCAGATGGGGCAGCGGGGCAG AGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTC ACTTCCTAAATGTGATGGCGGCTGGGAAGAGGCGCTCCTCACTTCCTAGA TGGGATGGCGGCCGGGCGGAGATGCTCCTCACTTCTCAGACGGGGCAGCT GCCGGGCGGAGGGGCTCCTCACTTCTCAGACGG	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PTCD2_chr5_72315373_72373395	72339706	T T	TAGTTTTT others(304): Show TAGTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC CACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01891.hp1 HG02145.hp2 others(8): Show HG01433.hp2 HG01891.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02559.hp2 HG02615.hp1 HG02886.hp2 HG02965.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0020 others(3): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0020 a0001c0001t0062 a0001c0001t0063 a0001c0001t0066	a0001c0001t0005g0060 a0001c0001t0011g0059 a0001c0001t0011g0062 others(6): Show a0001c0001t0005g0060 a0001c0001t0011g0059 a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0011g0068 a0001c0001t0020g0011 a0001c0001t0062g0065 a0001c0001t0063g0064 a0001c0001t0066g0067	11	328	0.0335	311	c.753 others(326): Show c.753+982_753+983insTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCAGTTTTTCTTT	PTCD2	ENSG00000049883.15	transcript	ENST00000380639.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
PTPRG_chr3_61556571_62302609	61652480	A A	ACTTGTTG others(304): Show ACTTGTTGAGCTCTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0028	1	94	0.0106	311	c.85+ others(328): Show c.85+90127_85+90128insTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCTTGTTGAGCTCTTTCTTT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PUS7_chr7_105451503_105527271	105468680	T T	TCTAATTT others(304): Show TCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	350	0.0029	311	c.139 others(328): Show c.1399-218_1399-217insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAATTAG	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	11/15			chr7	TogoVar
QSOX2_chr9_136201333_136250812	136234723	G G	GGCTTGGG others(304): Show GGCTTGGGAGCAAGGCTGGTGGTCTCCACGAGGCCCCCCAGCTCCACTGC GCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGT CTCCACGAGGCCCCCCAGCTCCACTGCACCCGCCCCAGCCTCATCGCGCC ACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCA CTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGC TGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCG CGCCACACCCCA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG04199.hp2 others(6): Show HG00408.hp2 HG00609.hp1 HG04199.hp2 NA18940.hp2 NA18944.hp1 NA18956.hp1 NA18959.hp2 NA19001.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0015 a0001c0001t0029 others(1): Show a0001c0001t0006 a0001c0001t0015 a0001c0001t0029 a0001c0002t0006	a0001c0001t0006g0278 a0001c0001t0006g0289 a0001c0001t0006g0292 others(5): Show a0001c0001t0006g0278 a0001c0001t0006g0289 a0001c0001t0006g0292 a0001c0001t0006g0293 a0001c0001t0015g0035 a0001c0001t0015g0276 a0001c0001t0029g0290 a0001c0002t0006g0081	9	392	0.0230	311	c.329 others(328): Show c.329-7850_329-7849insTGGGGTGTGGCGCGATGAGGCTGGGGCG GGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCT GGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCT CGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGG GGCGGGTGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCA AGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGG GCCTCGTGGAGACCACCAGCCTTGCTCCCAAGC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136234723	G G	GGCTTGGG others(304): Show GGCTTGGGAGCAAGGCTGGTGGTCTCCACGAGGCCCCCCAGCTCCACTGC GCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGT CTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCC ACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCA CTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGC TGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCG CGCCACACCCCA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG04228.hp1 HG03942.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0284 a0001c0001t0006g0283 a0001c0001t0002g0284 a0001c0001t0006g0283	2	392	0.0051	311	c.329 others(328): Show c.329-7850_329-7849insTGGGGTGTGGCGCGATGAGGCTGGGGCG GGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCT GGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCT CGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGG GGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCA AGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGG GCCTCGTGGAGACCACCAGCCTTGCTCCCAAGC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
RAB11FIP3_chr16_420649_528011	492358	G G	GGCCCTCC others(304): Show GGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGAGCCCCCCCGGGAGAC CCGAGGCCGTCCAGAGCTCTCCCGGGAGACCCGAGGCCGTCCGTCCAGAG CCCCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGG CCGTCCAGAGCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGG GAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAG GGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCG AGGCCGCCCAGA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0187 a0001c0001t0006g0187	1	295	0.0034	311	c.126 others(330): Show c.1265+3359_1265+3360insCCCTCCCGGGAGACCCGAGGCCGTCC GTCCAGAGCCCCCCCGGGAGACCCGAGGCCGTCCAGAGCTCTCCCGGGAG ACCCGAGGCCGTCCGTCCAGAGCCCCCCCGGGAGACCCGAGGCCGCCCAG AGCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCTTCCCGGGAGACCCGA GGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCC CGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCC CAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	494118	G G	GGACCTCG others(304): Show GGACCTCGTGATCCGCCCGCCTTGACCCCCCAAAGTGCTGGGATTACAGG CTGAGCCACTGCACCCAGCCTGCCTGGAGGTATATTATCTTTTTCTTTTT TGAGACAGAGTCTCGATCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATC TCGGCTCACTGCAACCTCTGCCTCCCGGGTTCACTCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCATAACGCCCGGCTAA TTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGG TCTCAATCTCCT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0002 a0008c0019t0002	a0008c0019t0002g0114 a0008c0019t0002g0114	1	295	0.0034	311	c.126 others(330): Show c.1266-2685_1266-2684insTGACCCCCCAAAGTGCTGGGATTACA GGCTGAGCCACTGCACCCAGCCTGCCTGGAGGTATATTATCTTTTTCTTT TTTGAGACAGAGTCTCGATCTGTCACCCAGGCTGGAGTGCGGTGGTGCGA TCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCACTCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCATAACGCCCGGCT AATTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTAGCCAGGAT GGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCT	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	494118	G G	GGACCTCG others(304): Show GGACCTCGTGATCCGCCCGCCTTGACCCCCCAAAGTGCTGGGATTACAGG CTGAGCCACTGCACCCAGCCTGCCTGGAGGTATATTATCTTTTTCTTTTT TGAGACAGAGTCTCGATCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATC TCGGCTCACTGCAACCTCTGCCTCCCGGGTTCACTCCATTCTCCTGCCTC AGCCTCTCGAGTAGCTGGGACTACAGGCGCCCGCCATAACGCCCGGCTAA TTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGG TCTCAATCTCCT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01261.hp2 NA18950.hp1 others(6): Show HG01258.hp2 HG01261.hp2 NA18950.hp1 NA18970.hp2 NA18981.hp1 NA18981.hp2 NA18994.hp1 NA19074.hp1 NA19081.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0013c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0005 a0001c0002t0009 a0001c0011t0002 a0013c0020t0005	a0001c0001t0001g0119 a0001c0001t0002g0002 a0001c0001t0002g0015 others(6): Show a0001c0001t0001g0119 a0001c0001t0002g0002 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0003g0211 a0001c0002t0005g0075 a0001c0002t0009g0254 a0001c0011t0002g0019 a0013c0020t0005g0013	9	295	0.0305	311	c.126 others(330): Show c.1266-2685_1266-2684insTGACCCCCCAAAGTGCTGGGATTACA GGCTGAGCCACTGCACCCAGCCTGCCTGGAGGTATATTATCTTTTTCTTT TTTGAGACAGAGTCTCGATCTGTCACCCAGGCTGGAGTGCGGTGGTGCGA TCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCACTCCATTCTCCTGCC TCAGCCTCTCGAGTAGCTGGGACTACAGGCGCCCGCCATAACGCCCGGCT AATTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTAGCCAGGAT GGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCT	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RALGAPA1_chr14_35533356_35814295	35650941	A A	AGGAATTA others(304): Show AGGAATTACATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0138 a0001c0002t0001g0138	1	272	0.0037	311	c.567 others(328): Show c.5676+863_5676+864insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAATGTAATTCC	RALGAPA1	ENSG00000174373.17	transcript	ENST00000680220.1	protein_coding	31/41			chr14	TogoVar
RASAL2_chr1_178089104_178483850	178428464	T T	TGATTTTA others(304): Show TGATTTTAGCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00438.hp2 others(35): Show HG00099.hp1 HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00621.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01256.hp2 HG01257.hp2 HG01358.hp1 HG01928.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02040.hp2 HG02451.hp1 HG02523.hp2 HG02738.hp2 HG02809.hp1 HG02965.hp2 HG03098.hp1 HG03579.hp2 HG04115.hp2 NA18522.hp1 NA18906.hp2 NA18968.hp2 NA18970.hp2 NA18985.hp1 NA18990.hp1 NA19054.hp1 NA19070.hp2 NA19074.hp2 NA19088.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0012 a0001c0001t0020 others(3): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0020 a0001c0001t0031 a0001c0002t0002 a0001c0003t0002	a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0068 others(35): Show a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0012g0084 a0001c0001t0012g0086 a0001c0001t0020g0070 a0001c0001t0031g0087 a0001c0002t0002g0021 a0001c0003t0002g0162 a0001c0003t0002g0163 a0001c0003t0002g0164 a0001c0003t0002g0165 a0001c0003t0002g0166 a0001c0003t0002g0167	38	180	0.2111	311	c.674 others(328): Show c.674+7857_674+7858insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCGATTTTAGCTTTT	RASAL2	ENSG00000075391.18	transcript	ENST00000367649.8	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAVER1_chr19_10311212_10338529	10337272	C C	CTGGGTGT others(304): Show CTGGGTGTGGTAGTGCACACCTGTAGTCCCAGCTACTCAGCAGGCTGAGG CAGGAGAATCTCTTGAACTTGGGAGGTGGAGGTTGCAGTGAGCAAGATCA TGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCCAAAAA AAAAAAAAAGAAGAAGAAGAAGAAAAGGCCAGGTGCAGTGGCTCACGCCT GTAATCCCAACACTTTAGGAGGCGGAGGCAGGCAGATCATGAGGTCAGAA GTTCGAGACCAGCTTGACCAACATGGTGAAACCCTGTCTCTACTAAAAAT ACAAAAATTAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0192 a0001c0013t0003g0192	1	438	0.0023	311	c.-37 others(322): Show c.-3766_-3765insACTAATTTTTGTATTTTTAGTAGAGACAGGGTTT CACCATGTTGGTCAAGCTGGTCTCGAACTTCTGACCTCATGATCTGCCTG CCTCCGCCTCCTAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCTGG CCTTTTCTTCTTCTTCTTCTTTTTTTTTTTTTTGGAGATGGAGTCTCACT CTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGCTCACTGCAACCTC CACCTCCCAAGTTCAAGAGATTCTCCTGCCTCAGCCTGCTGAGTAGCTGG GACTACAGGTGTGCACTACCACACCCA	RAVER1	ENSG00000161847.15	transcript	ENST00000617231.5	protein_coding		3744		chr19	TogoVar
RBFOX1_chr16_6014024_7718340	6796061	C C	CAAAAGAA others(304): Show CAAAAGAAAGAGGTTTATCACTTTGGGAGGCCGAGGCGGGTGGATCATGA GGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0034 a0001c0001t0008g0034	1	68	0.0147	311	c.-16 others(332): Show c.-16+141428_-16+141429insCACTTTGGGAGGCCGAGGCGGGTG GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC CGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCC GGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGGTTTAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBMS2_chr12_56516820_56601193	56558297	C C	CGGCCTCC others(304): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGTTCTGTC ACCCAAGCTGGAGTGCAATGATGCAATCTTGTCTCACTGCACCTTTGCCT CCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAATAGGTGGGATTA CAGGCATGTGGCACCATGCCCGGCTAATTTTTGTATTTTTAATAGAGATG GGGTTTTGCCATATTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGA ACCACCCGCCTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp2 HG03831.hp2 HG02280.hp2 HG02630.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0001 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0140 a0001c0001t0007g0152 a0001c0001t0008g0181 a0001c0001t0001g0140 a0001c0001t0007g0152 a0001c0001t0008g0181	3	280	0.0107	311	c.67- others(326): Show c.67-4083_67-4082insTGCGCCTGGCCTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACAGAGTTTTGTTCTGTCACCCAAGCTGGAGTGCAA TGATGCAATCTTGTCTCACTGCACCTTTGCCTCCCGGGTTCAAGCGATTC TTCTGCCTCAGCCTCCCGAATAGGTGGGATTACAGGCATGTGGCACCATG CCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTGCCATATTGGC CAGGCTGGTCTTGAACTCCTGACATCAAGTGAACCACCCGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCAC	RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
RCN3_chr19_49523003_49548633	49545495	A A	ACTAATTA others(304): Show ACTAATTAATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTG TTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 NA19240.hp1 HG02451.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0028 a0002c0002t0002g0028	2	380	0.0053	311	c.22 others(322): Show c.2282_*2283insCTAATTAATTTTTTTTTTTTTTTTTTTTTTGAGA CAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGC	RCN3	ENSG00000142552.8	transcript	ENST00000270645.8	protein_coding		1863		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500842	A A	AGGGAGGA others(304): Show AGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGA GGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGG GGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGG GAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGG GAGGAGGGGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG02572.hp1 others(5): Show HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG03041.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0016 a0001c0001t0003g0022 others(1): Show a0001c0001t0003g0011 a0001c0001t0003g0016 a0001c0001t0003g0022 a0001c0001t0003g0044	8	318	0.0252	311	c.36 others(322): Show c.3631_*3632insGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGA GGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAG GAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGGAGG AGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGA GGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGG AGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGA GGAGGGGAGGGCGGGGAGGAGGGGACG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2916		chr19	TogoVar
RERE_chr1_8347404_8822640	8386567	A A	AGAACTCT others(304): Show AGAACTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT TGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0003 a0001c0004t0001g0003	1	204	0.0049	311	c.128 others(332): Show c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAGTTC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RFX3_chr9_3213297_3531001	3504676	A A	AAAATATA others(304): Show AAAATATATATTATATGCCATATGGTATATATTGTATATAAAATATATAG TATATGCCATATGGTATATATTGTATAAAAAATATATAGTATATGCCATA TGGTATATATTGTATATAAAATATATATTATATGCCATATGGTATATATT GTATATAAAATATATATTATATGCCATATGGTATATATTGTATATAAAAT ATATATTATATGCCATATGGTATATATTGTATATAAAATATATATTATAT GCCATATGGTATATATTGTATATAAAATATATATTATATGCTATATGGTA TATATTGTATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0195 a0001c0001t0074g0195	1	196	0.0051	311	c.-9+ others(328): Show c.-9+21070_-9+21071insATATACAATATATACCATATAGCATATA ATATATATTTTATATACAATATATACCATATGGCATATAATATATATTTT ATATACAATATATACCATATGGCATATAATATATATTTTATATACAATAT ATACCATATGGCATATAATATATATTTTATATACAATATATACCATATGG CATATAATATATATTTTATATACAATATATACCATATGGCATATACTATA TATTTTTTATACAATATATACCATATGGCATATACTATATATTTTATATA CAATATATACCATATGGCATATAATATATATTT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RGSL1_chr1_182445146_182565597	182451705	G G	GGACATCA others(304): Show GGACATCAAGGAGATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0012	1	338	0.0030	311	c.13+ others(326): Show c.13+1544_13+1545insTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCGACATCAAGGAGATTTT	RGSL1	ENSG00000121446.20	transcript	ENST00000294854.13	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar

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