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
PCDHGB1_chr5_141345099_141517975	141407491	A A	ATTTCTGT others(208): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0013 a0002c0004t0001g0013	1	278	0.0036	215	c.240 others(236): Show c.2409+54836_2409+54837insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA CTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAT GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGC CACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB1	ENSG00000254221.3	transcript	ENST00000523390.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB2_chr5_141354994_141517975	141407491	A A	ATTTCTGT others(208): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0280 a0003c0003t0001g0280	1	288	0.0035	215	c.242 others(236): Show c.2421+44949_2421+44950insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA CTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAT GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGC CACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB2	ENSG00000253910.3	transcript	ENST00000522605.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB3_chr5_141365242_141517975	141407491	A A	ATTTCTGT others(208): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0284 a0003c0003t0001g0284	1	296	0.0034	215	c.241 others(236): Show c.2415+34696_2415+34697insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA CTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAT GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGC CACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB3	ENSG00000262209.3	transcript	ENST00000576222.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB4_chr5_141382698_141517975	141407491	A A	ATTTCTGT others(208): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	294	0.0034	215	c.239 others(236): Show c.2397+17224_2397+17225insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA CTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAT GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGC CACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB4	ENSG00000253953.3	transcript	ENST00000519479.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB5_chr5_141392947_141517975	141407491	A A	ATTTCTGT others(208): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0018 a0001c0001t0010g0018	1	300	0.0033	215	c.239 others(234): Show c.2397+6981_2397+6982insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB5	ENSG00000276547.2	transcript	ENST00000617380.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB6_chr5_141403021_141517975	141407491	A A	ATTTCTGT others(208): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGCATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0183 a0002c0009t0001g0183	1	302	0.0033	215	c.-71 others(224): Show c.-712_-711insTTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCC GCCACTACGCCCGGCTAATTTTTTGCATT	PCDHGB6	ENSG00000253305.3	transcript	ENST00000520790.2	protein_coding		529		chr5	TogoVar
PCLO_chr7_82749012_83167884	82999572	A A	ATAATATG others(208): Show ATAATATGTAATATTAAATATAAAATATAATATGTAATATTAAATATAAA ATATAATATGTAATATTAAATATAAAATATAATATGTAATATTAAATATA AAATATAATATGTAATATTAAATATAAAATATAATATGTAATATTATATA TAAAATATAATATGTAATATTATATATAAAATATAATATGTAATATTATA TATAAAATATAATATG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0013 a0013	a0013c0102 a0013c0102	a0013c0102t0002 a0013c0102t0002	a0013c0102t0002g0082 a0013c0102t0002g0082	1	188	0.0053	215	c.330 others(236): Show c.3301-33086_3301-33085insCATATTATATTTTATATATAATAT TACATATTATATTTTATATATAATATTACATATTATATTTTATATATAAT ATTACATATTATATTTTATATTTAATATTACATATTATATTTTATATTTA ATATTACATATTATATTTTATATTTAATATTACATATTATATTTTATATT TAATATTACATATTATATTTTATATTTAATATTACATATTA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	82999572	A A	ATAATATG others(208): Show ATAATATGTAATATTAAATATAAAATATAATATGTAATATTAAATATAAA ATATAATATGTAATATTATATATAAAATATAATATGTAATATTAAATATA AAATATAATATGTAATATTATATATAAAATATAATATGTAATATTATATA TAAAATATAATATGTAATATTATATATAAAATATAATATGTAATATTATA TATAAAATATAATATG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03130.hp2 NA20129.hp1 HG02622.hp1 HG03130.hp2 NA20129.hp1	a0007 a0007	a0007c0008 a0007c0076 a0007c0008 a0007c0076	a0007c0008t0003 a0007c0076t0003 a0007c0008t0003 a0007c0076t0003	a0007c0008t0003g0119 a0007c0008t0003g0120 a0007c0076t0003g0118 a0007c0008t0003g0119 a0007c0008t0003g0120 a0007c0076t0003g0118	3	188	0.0160	215	c.330 others(236): Show c.3301-33086_3301-33085insCATATTATATTTTATATATAATAT TACATATTATATTTTATATATAATATTACATATTATATTTTATATATAAT ATTACATATTATATTTTATATATAATATTACATATTATATTTTATATTTA ATATTACATATTATATTTTATATATAATATTACATATTATATTTTATATT TAATATTACATATTATATTTTATATTTAATATTACATATTA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCSK6_chr15_101298933_101494707	101459446	T T	TCACCCAC others(208): Show TCACCCACTGCCACCATTCCCGTCCCCCCACCCTAAGTCCACACCACCCG CTGCCACCATTCCCGTCCCCCCACCCTAAGTCCACACCACCCGCTGCCAC CATTCCCATCCTCCCACCCTAAGTCCACACCACCCGCTGCCACCGTTCCC GTCCCCCCACCCTAAGTCCACACCACCCGCTGCCACCGTTCCCGTCCCCC CACCCTAAGTCCACAC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0268 a0001c0009t0001g0268	1	336	0.0030	215	c.298 others(234): Show c.298-15787_298-15786insGTGTGGACTTAGGGTGGGGGGACGGG AACGGTGGCAGCGGGTGGTGTGGACTTAGGGTGGGGGGACGGGAACGGTG GCAGCGGGTGGTGTGGACTTAGGGTGGGAGGATGGGAATGGTGGCAGCGG GTGGTGTGGACTTAGGGTGGGGGGACGGGAATGGTGGCAGCGGGTGGTGT GGACTTAGGGTGGGGGGACGGGAATGGTGGCAGTGGGTG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	1/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101459504	G G	GTTCCCGT others(208): Show GTTCCCGTCCCCCCACCCTAAGTCCACACCACCCGCTGCCACCATTCCCA TCCTCCCACCCTAAGTCCACACCACCCGCTGCCACCGTTCCCGTCCCCCC ACCCTAAGTCCACACCACCCGCTGCCACCATTCCCGTCCCCCCACCCTAA GTCCACACCACCCGCTGCCACCGTTCCCGTCCCCCCACCCTAAGTCCACA CCACCCGCTGCCACCA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0005 a0005	a0005c0046 a0005c0046	a0005c0046t0001 a0005c0046t0001	a0005c0046t0001g0049 a0005c0046t0001g0049	1	336	0.0030	215	c.298 others(234): Show c.298-15845_298-15844insTGGTGGCAGCGGGTGGTGTGGACTTA GGGTGGGGGGACGGGAACGGTGGCAGCGGGTGGTGTGGACTTAGGGTGGG GGGACGGGAATGGTGGCAGCGGGTGGTGTGGACTTAGGGTGGGGGGACGG GAACGGTGGCAGCGGGTGGTGTGGACTTAGGGTGGGAGGATGGGAATGGT GGCAGCGGGTGGTGTGGACTTAGGGTGGGGGGACGGGAA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	1/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(208): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCA CTTCCCCTCCCTCTCCCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCC CCCCTCCCCCCTCCCCCTCCCCTATCCCCTCCCCACTCCCCCTCCCCCTC CCCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0071 a0001c0004t0001g0071	1	336	0.0030	215	c.-37 others(226): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGCAGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGG GGAGGGGATAGGGGAGGGGGAGGGGGGAGGGGGGAGGGGATGAGGGAGGG GGAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PDE4B_chr1_65787895_66379574	66127175	T T	TAAGATTG others(208): Show TAAGATTGTACTATGAGAAGGGGAATATCACACTCTGGGGACTGTGGTGG GGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGA TGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGT AACTAACCTGCACAATATGCACATGTACCCTAAAACTTAGAGTATAATAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0054 a0001c0001t0006g0054	1	118	0.0085	215	c.282 others(236): Show c.282-120270_282-120269insGAAGGGGAATATCACACTCTGGGG ACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACC TAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGT ATACATATGTAACTAACCTGCACAATATGCACATGTACCCTAAAACTTAG AGTATAATAAAAAAAAAAAAAAAAAAAAGATTGTACTATGA	PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDIA2_chr16_278164_292215	285902	T T	TCCCAACC others(208): Show TCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACACCAACCCCGCGG TTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCAGTTCT CCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTT CTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACC CCGCGGTTCTCCCAAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0076 a0001c0012t0001g0076	1	436	0.0023	215	c.111 others(232): Show c.1119+214_1119+215insAACCCCAACCCCAACCCCAACACCAACC CCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGC AGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCC GCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACC CCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA2_chr16_278164_292215	285983	T T	TCCCAACC others(208): Show TCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCC CGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCG GTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCA ACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCC CAACCCCAACCCCAAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0046 a0007c0007t0001g0046	1	436	0.0023	215	c.111 others(232): Show c.1119+289_1119+290insAACCCCGCGGTTCTCCCAACCCCAACCC CAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAAC CCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCA ACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGG TTCTCCCAACCCCAACCCCAACCCCAACCCCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA2_chr16_278164_292215	285983	T T	TCCCAACC others(208): Show TCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCC CGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCA ACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAACC CCGCGGTTCTCCCAAC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0124 a0003c0003t0001g0124	1	436	0.0023	215	c.111 others(232): Show c.1119+289_1119+290insAACCCCGCGGTTCTCCCAACCCCAACCC CAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAAC CCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGTT CTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACC CCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDXK_chr21_43714129_43767299	43741153	C C	CGGGGGGC others(208): Show CGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGG GGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT CGCGGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGG GGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TGGCGGGGGGCTCGCG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0127 a0001c0002t0003g0127	1	358	0.0028	215	c.143 others(230): Show c.143-506_143-505insGGCGGGGGGCTCGCGGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT CGCGGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTGGCGGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PERM1_chr1_970198_987093	977476	C C	CCAACCCC others(208): Show CCAACCCCGGAACCGCCTGCCCCCGCCACCAACCCCGGAACCGCCTCCCA CTCCCCCCGCAACCCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCC CCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCG CCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0016 a0016	a0016c0037 a0016c0037	a0016c0037t0001 a0016c0037t0001	a0016c0037t0001g0188 a0016c0037t0001g0188	1	408	0.0025	215	c.215 others(232): Show c.2150-853_2150-852insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGGTTGCGGGGGGAGTGGGAGGCGGTT CCGGGGTTGGTGGCGGGGGCAGGCGGTTCCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977476	C C	CCAACCCC others(208): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCGGGAACCGCCTCCCACTCCCC CCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCG CCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0024 a0024	a0024c0045 a0024c0045	a0024c0045t0001 a0024c0045t0001	a0024c0045t0001g0205 a0024c0045t0001g0205	1	408	0.0025	215	c.215 others(232): Show c.2150-853_2150-852insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAG GCGGTTCCCGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGG GGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCC CGGGGTTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PFKP_chr10_3062548_3141802	3106725	G G	GCCCCTCT others(208): Show GCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTCTCCTCAC CCCTGCCCCTCTCCTCACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGC CCCTTCACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTCTCCTCACCCCT GCCCCTTCACACCTGCCCCTCTCCTCGCCCCTGCCGCTTCACCCCTGCCC CTCTCCTCACCCCTGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03471.hp2 HG03579.hp1 others(4): Show HG02630.hp1 HG03471.hp2 HG03579.hp1 NA18941.hp2 NA18952.hp2 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0010 a0001c0011 others(1): Show a0001c0005 a0001c0010 a0001c0011 a0001c0016	a0001c0005t0006 a0001c0010t0001 a0001c0011t0006 others(1): Show a0001c0005t0006 a0001c0010t0001 a0001c0011t0006 a0001c0016t0001	a0001c0005t0006g0053 a0001c0005t0006g0307 a0001c0010t0001g0231 others(4): Show a0001c0005t0006g0053 a0001c0005t0006g0307 a0001c0010t0001g0231 a0001c0010t0001g0355 a0001c0010t0001g0358 a0001c0011t0006g0188 a0001c0016t0001g0222	7	402	0.0174	215	c.775 others(230): Show c.775-484_775-483insCTCCTCACCCCTGCCCCTCTCCTCACCCCT GCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTGCCCCTTC ACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGCCCCTTCACCCCTGCCC CTCTCCTCACCCCTGCCCCTTCACACCTGCCCCTCTCCTCGCCCCTGCCG CTTCACCCCTGCCCCTCTCCTCACCCCTGCCCCCT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3106725	G G	GCCCCTCT others(208): Show GCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTCTCCTCAC CCCTGCCCCTCTCCTCACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGC CCCTTCACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTCTCCTCACCCCT GCCCCTTCACACCTGCCCCTCTCCTTGCCCCTGCCGCTTCACCCCTGCCC CTCTCCTCACCCCTGC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18940.hp2 NA18939.hp1 NA18940.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0350 a0001c0007t0005g0373 a0001c0007t0005g0350 a0001c0007t0005g0373	2	402	0.0050	215	c.775 others(230): Show c.775-484_775-483insCTCCTCACCCCTGCCCCTCTCCTCACCCCT GCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTGCCCCTTC ACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGCCCCTTCACCCCTGCCC CTCTCCTCACCCCTGCCCCTTCACACCTGCCCCTCTCCTTGCCCCTGCCG CTTCACCCCTGCCCCTCTCCTCACCCCTGCCCCCT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PHIP_chr6_78929419_79083254	79014067	T T	TTACAAAC others(208): Show TTACAAACCTTATTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCG	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA19011.hp1 NA19057.hp1 others(2): Show HG01123.hp1 NA19011.hp1 NA19057.hp1 NA19070.hp1 NA19081.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0013 a0001c0006t0002g0268 a0001c0006t0002g0271 others(1): Show a0001c0006t0002g0013 a0001c0006t0002g0268 a0001c0006t0002g0271 a0001c0006t0002g0275	5	318	0.0157	215	c.152 others(234): Show c.1524+1014_1524+1015insCGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAGAAATAAGGTTTGTA	PHIP	ENSG00000146247.15	transcript	ENST00000275034.5	protein_coding	15/39			chr6	TogoVar
PLEKHN1_chr1_961482_980865	977476	C C	CCAACCCC others(208): Show CCAACCCCGGAACCGCCTGCCCCCGCCACCAACCCCGGAACCGCCTCCCA CTCCCCCCGCAACCCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCC CCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCG CCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0001 a0001c0001t0043g0001	1	422	0.0024	215	c.29 others(226): Show c.2901_*2902insCAACCCCGGAACCGCCTGCCCCCGCCACCAACCC CGGAACCGCCTCCCACTCCCCCCGCAACCCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAAC CGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCG CAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1612		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977476	C C	CCAACCCC others(208): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCGGGAACCGCCTCCCACTCCCC CCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCG CCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0055 a0001c0007t0001g0055	1	422	0.0024	215	c.29 others(226): Show c.2901_*2902insCAACCCCGGGAACCGCCTGCCCCCGCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCGGGAAC CGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCG CAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1612		chr1	TogoVar
PPARGC1B_chr5_149725310_149860022	149777800	C C	CACACACA others(208): Show CACACACACACACACACACACACACACACACACAGAGTACCCGGCTGCTC ATATCCATGTAGCAGCATCACACACACACACACACACACACACACACACA CAGTATCCGGCTGCTTGTATCCATGTAGCAGTGCCCCCCTCCCCCCCCCC ACCACAGACACACACACAGAGTACCCGGCTGCTCATATCCATGTAGCATC ACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0008 a0002c0008t0008	a0002c0008t0008g0319 a0002c0008t0008g0319	1	320	0.0031	215	c.79- others(232): Show c.79-42606_79-42605insCACACAGAGTACCCGGCTGCTCATATCC ATGTAGCAGCATCACACACACACACACACACACACACACACACACAGTAT CCGGCTGCTTGTATCCATGTAGCAGTGCCCCCCTCCCCCCCCCCACCACA GACACACACACAGAGTACCCGGCTGCTCATATCCATGTAGCATCACACAC ACACACACATACACACACACACACACACACACACACA	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPP1R7_chr2_241145467_241188652	241187727	C C	CAGGAGGA others(208): Show CAGGAGGAGGGGAGTGGGGAGAAAGGAGGAGAAGGAAGAGGAGAGGGAGA AGTGGGGGGGAGGGGGAGAAACAGGAGGAGGGGAGTGGGGAGAAAGGAGA AGGAAGAGGAGAGGGAGAAGTGGGGGGAGGGGGAGAAACGATAGGAGGAG GGGGAGTGGGGAGAAAGAGGAGGAGGAAGAGGAGAGGGAGAAGTGGGGGG GAGGGGGAGAAACGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	396	0.0025	215	c.49 others(226): Show c.4904_*4905insAGGAGGAGGGGAGTGGGGAGAAAGGAGGAGAAGG AAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGAAACAGGAGGAGGGGAG TGGGGAGAAAGGAGAAGGAAGAGGAGAGGGAGAAGTGGGGGGAGGGGGAG AAACGATAGGAGGAGGGGGAGTGGGGAGAAAGAGGAGGAGGAAGAGGAGA GGGAGAAGTGGGGGGGAGGGGGAGAAACGAT	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding		4076		chr2	TogoVar
PPP6R2_chr22_50338327_50450090	50397546	C C	CGGGGGGG others(208): Show CGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAG GAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTC ATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGC CTGTCCTCACCAGCCTTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTG ACTTGGGATGGGGGCA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0096 a0001c0001t0007g0096	1	340	0.0029	215	c.227 others(232): Show c.227+3411_227+3412insGGGGGGGCCTGTCCTCACCAGCCTTGTC ATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGG CCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCCCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCA	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23			chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50397547	A A	AGGGGGGC others(208): Show AGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCAT CCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGG CCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCAG	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0092 a0001c0001t0007g0092	1	340	0.0029	215	c.227 others(232): Show c.227+3417_227+3418insGCCTGTCCTCACCAGCCCTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCC TCACCAGCCTTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGG GATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTT TCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRDM16_chr1_3064203_3443621	3176062	A A	ACCATCCA others(208): Show ACCATCCATCCATCCATCCATCCACCCATTGATTCACCTACCCATCCATT CATCCATTCCTTCATTAACCCATCCATGCACTCATTCATCTATCCATCCA TCCATCCATCTATCCATCCATCCATTTACCCATCTATCCCCTCATCTATC CACCAAGCCATTCATCCACCTATCTATGCATTCATCCACCATCTGTCCAT CCATCCATCCATCCAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(39): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01123.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01361.hp1 HG01496.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG02004.hp2 HG02056.hp2 HG02109.hp1 HG02132.hp2 HG02273.hp2 HG02559.hp2 HG02602.hp1 HG02647.hp1 HG02965.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03516.hp1 HG03654.hp2 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA19043.hp2 NA19074.hp2 NA19080.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0009 a0001c0014 a0001c0031 a0002c0003 a0002c0007 a0003c0005 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0058 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0016 a0001c0002t0017 a0001c0002t0036 a0001c0002t0084 a0001c0004t0007 a0001c0004t0010 a0001c0004t0081 a0001c0006t0011 a0001c0006t0013 a0001c0009t0005 a0001c0014t0030 a0001c0014t0068 a0001c0031t0037 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0006 a0002c0003t0013 a0002c0003t0051 a0002c0007t0019 a0003c0005t0009 a0003c0011t0001	a0001c0001t0001g0175 a0001c0001t0001g0183 a0001c0001t0001g0190 others(39): Show a0001c0001t0001g0175 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0002g0086 a0001c0001t0002g0176 a0001c0001t0004g0046 a0001c0001t0005g0184 a0001c0001t0006g0155 a0001c0001t0012g0041 a0001c0001t0014g0132 a0001c0001t0016g0035 a0001c0001t0018g0164 a0001c0001t0022g0061 a0001c0001t0023g0112 a0001c0001t0058g0043 a0001c0002t0001g0095 a0001c0002t0001g0116 a0001c0002t0002g0091 a0001c0002t0003g0147 a0001c0002t0016g0195 a0001c0002t0017g0177 a0001c0002t0036g0157 a0001c0002t0084g0138 a0001c0004t0007g0063 a0001c0004t0010g0032 a0001c0004t0081g0031 a0001c0006t0011g0065 a0001c0006t0013g0133 a0001c0009t0005g0200 a0001c0014t0030g0178 a0001c0014t0068g0159 a0001c0031t0037g0156 a0002c0003t0001g0018 a0002c0003t0002g0102 a0002c0003t0004g0123 a0002c0003t0006g0050 a0002c0003t0013g0137 a0002c0003t0051g0079 a0002c0007t0019g0020 a0003c0005t0009g0136 a0003c0011t0001g0056 a0003c0011t0001g0057	42	210	0.2000	215	c.38- others(230): Show c.38-9954_38-9953insTATCCATCCATCCATTTACCCATCTATCCC CTCATCTATCCACCAAGCCATTCATCCACCTATCTATGCATTCATCCACC ATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAC CCATTGATTCACCTACCCATCCATTCATCCATTCCTTCATTAACCCATCC ATGCACTCATTCATCTATCCATCCATCCATCCATC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2106663	T T	TGTCACCA others(208): Show TGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACC TCCACACGTGTCACCAGGCCAGGTAACTCTTCAGCAGGCCCCTCCGGTGG GCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCC TCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTTCA GCAGGCCCCTCCACAC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18971.hp1 NA18967.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0067 a0001c0001t0001g0069	2	286	0.0070	215	c.335 others(234): Show c.335-28597_335-28596insCACCAGGCCAGGTAACTCTCAGCAAG CCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTAACTC TTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCC AGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTC ACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCACACGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKN_chr6_161342417_162732766	162011224	T T	TATAATAT others(208): Show TATAATATATACTATATTATATATAATATAGTATATTTTATAATATATAC TATATTATATATAGTATATATTATAATATATACTATATTATATATAATAT AGTATATATTTATAATATATACTATATATAATATAGTATATTTTATAAAA TATATACTATATTATATATAATATAGTATATTTTATAATATATACTATAT TATATATAATATAGTA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	32	0.0313	215	c.619 others(234): Show c.619-37808_619-37807insTACTATATTATATATAATATAGTATA TATTATAAAATATACTATATTATATATAATATAGTATATATTTTATAAAA TATACTATATTATATATAGTATATATTATAAATATATACTATATTATATA TAATATAGTATATATTATAATATATACTATATATAATATAGTATATATTA TAAAATATACTATATTATATATAATATAGTATATATTAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11			chr6	TogoVar
PRTN3_chr19_835999_853175	844220	C C	CCGCCTCT others(208): Show CCGCCTCTCCCCCGCCCGCGCCTCTCCCCCGCCCGCGCCTCTCCCCCGCC CGCGCCTCTCCCCTGCGCGCCTCTCCCCCGCCCGCGCCTCTCCCCCGCCC GCGCCTCTCCCCTGCCCGCGCCTCTCCCTTGCCCGCCCCTCTCCCCTGCC CGCGCCTCTCCCCTGCATGCCTCTCCCTTGCCCGCCCCTCTCCCCTGCCC GCGCCTCTCCCCTGCG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01069.hp2 others(35): Show HG00639.hp1 HG00639.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp2 HG01167.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01943.hp2 HG01975.hp2 HG02083.hp2 HG02132.hp1 HG02148.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02602.hp2 HG02630.hp2 HG02886.hp2 HG03209.hp1 HG03239.hp1 HG03486.hp2 HG03834.hp2 HG03942.hp1 HG04199.hp1 HG06807.hp2 NA18941.hp1 NA18952.hp2 NA19011.hp2 NA19068.hp1 NA20300.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0004 a0002c0002 a0006c0004	a0002c0002t0001 a0002c0002t0002 a0006c0004t0001 a0002c0002t0001 a0002c0002t0002 a0006c0004t0001	a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 others(31): Show a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0020 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0174 a0002c0002t0001g0339 a0002c0002t0002g0169 a0006c0004t0001g0162	38	415	0.0916	215	c.369 others(230): Show c.369+231_369+232insCGCCCGCGCCTCTCCCCTGCGCGCCTCTCC CCCGCCCGCGCCTCTCCCCCGCCCGCGCCTCTCCCCTGCCCGCGCCTCTC CCTTGCCCGCCCCTCTCCCCTGCCCGCGCCTCTCCCCTGCATGCCTCTCC CTTGCCCGCCCCTCTCCCCTGCCCGCGCCTCTCCCCTGCGCGCCTCTCCC CCGCCCGCGCCTCTCCCCCGCCCGCGCCTCTCCCC	PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
PWWP3A_chr19_1349959_1383429	1368844	T T	TTCGGGTC others(208): Show TTCGGGTCCCCGGTGCCCACCTGCGTTCAGACCAGCCCAAGCCATCGGGT CCCCGGTGCCCACCTGCGTTCAGATCAGCCCAAGCCATCAGGTCCCCGGT GCCCACCTGCGTTCAGATCAGCCCAAGCCATCGGGTCCCCGGTGCCCACC TGCGTTCAGACCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTC AGACCAGCCCAAGCCA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0013 a0002c0004t0013	a0002c0004t0013g0084 a0002c0004t0013g0084	1	412	0.0024	215	c.142 others(232): Show c.1423-348_1423-347insTCAGCCCAAGCCATCAGGTCCCCGGTGC CCACCTGCGTTCAGATCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTG CGTTCAGACCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAG ACCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAGACCAGCC CAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAGA	PWWP3A	ENSG00000160953.17	transcript	ENST00000591337.7	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PWWP3A_chr19_1349959_1383429	1368844	T T	TTCGGGTC others(208): Show TTCGGGTCCCCGGTGCCCACCTGCGTTCAGATCAGCCCAAGCCATCAGGT CCCCGGTGCCCACCTGCGTTCAGATCAGCCCAAGCCATCGGGTCCCCGGT GCCCACCTGCGTTCAGACCAGCCCAAGCCATCGGGTCCCCGGTGCCCACC TGCGTTCAGACCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTC AGACCAGCCCAAGCCA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0270 a0001c0001t0004g0270	1	412	0.0024	215	c.142 others(232): Show c.1423-391_1423-390insTCAGCCCAAGCCATCAGGTCCCCGGTGC CCACCTGCGTTCAGATCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTG CGTTCAGACCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAG ACCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAGACCAGCC CAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAGA	PWWP3A	ENSG00000160953.17	transcript	ENST00000591337.7	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
RAB11FIP3_chr16_420649_528011	492455	T T	TCCCCGGG others(208): Show TCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCC GCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0149 a0001c0002t0002g0149	1	295	0.0034	215	c.126 others(234): Show c.1265+3455_1265+3456insCCCCGGGAGACCCGAGGCCGCCCAGA GCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGA GGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RAB31_chr18_9703301_9867551	9866433	C C	CTTCCAGG others(208): Show CTTCCAGGAGGTGGTGGAGAACTGGAGACGGGTCACCTTCAGGAGGTGGT GGAGAACTGGAGACGGGTCACCTTCCAGGAGGTGGTGGAGAACTGGAGAT GGGTCACCTTCCAGGAGGTGGTGGAGAACTGGAGATGGGTCACCTTCCAG GAGGTGGTGGAGAGCTGGAGATGGGCTCCCTTCCAGGAGGTGGTGAAGAG CTGGGGCTGGATCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01106.hp2 HG03041.hp1 HG01099.hp2 HG01106.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0032 a0001c0001t0038 a0001c0001t0002 a0001c0001t0032 a0001c0001t0038	a0001c0001t0002g0267 a0001c0001t0032g0068 a0001c0001t0038g0259 a0001c0001t0002g0267 a0001c0001t0032g0068 a0001c0001t0038g0259	3	322	0.0093	215	c.71 others(226): Show c.7108_*7109insTTCCAGGAGGTGGTGGAGAACTGGAGACGGGTCA CCTTCAGGAGGTGGTGGAGAACTGGAGACGGGTCACCTTCCAGGAGGTGG TGGAGAACTGGAGATGGGTCACCTTCCAGGAGGTGGTGGAGAACTGGAGA TGGGTCACCTTCCAGGAGGTGGTGGAGAGCTGGAGATGGGCTCCCTTCCA GGAGGTGGTGAAGAGCTGGGGCTGGATCCCT	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding		3883		chr18	TogoVar
RAB3C_chr5_58578075_58864394	58597109	T T	TATATATA others(208): Show TATATATAATACATAATATATATTATATGATATATATAATACATTATATA TTATTATATAATATATATTATGTATTATATATATTATATAATATATATTA TGTATTATATTATTATATAATATATATGTATATATTATATAATATATATT ATGTATAATATATAATACATTATATATTATATAATATAGATAATACATTA TATATATTATATAATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01167.hp1 others(22): Show HG00099.hp2 HG00639.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01358.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG02027.hp2 HG02148.hp1 HG02683.hp2 HG02738.hp2 HG03239.hp2 HG03490.hp2 HG04115.hp1 NA18612.hp2 NA18959.hp1 NA18961.hp1 NA18989.hp2 NA19007.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0022 a0001c0001t0028 a0001c0001t0038 a0001c0001t0062 a0001c0001t0064 a0001c0001t0078	a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0088 others(22): Show a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0136 a0001c0001t0004g0085 a0001c0001t0004g0095 a0001c0001t0005g0092 a0001c0001t0005g0098 a0001c0001t0007g0077 a0001c0001t0007g0078 a0001c0001t0007g0083 a0001c0001t0008g0080 a0001c0001t0010g0081 a0001c0001t0015g0096 a0001c0001t0022g0079 a0001c0001t0022g0087 a0001c0001t0028g0076 a0001c0001t0038g0097 a0001c0001t0062g0075 a0001c0001t0064g0093 a0001c0001t0078g0082	25	220	0.1136	215	c.24+ others(232): Show c.24+13898_24+13899insTTATATGATATATATAATACATTATATA TTATTATATAATATATATTATGTATTATATATATTATATAATATATATTA TGTATTATATTATTATATAATATATATGTATATATTATATAATATATATT ATGTATAATATATAATACATTATATATTATATAATATAGATAATACATTA TATATATTATATAATAATATATAATACATAATATATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB40B_chr17_82649973_82703698	82691993	A A	AGCAGAGC others(208): Show AGCAGAGCAGTGGGGCCCGCACGGTCCGTGGGCTGAGGTGACAGGCAGAG CAGTGGGGCCCGCACGGTCCGTGGGCTGAGGTGACAGGCAGAGCAGTGGG GCCCGCACGGTCCGTGGGCTGAGGTGACAGGCAGAGCAGTGGGGCCCGCA CGGTCCGTGGGCTGAGGTGACAGGCAGAGCAGTGGGGCCCGCACGGTCCG TGGGCTGAGGTGACAG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0279 a0001c0001t0007g0279	1	338	0.0030	215	c.142 others(232): Show c.142+6247_142+6461dupCTGTCACCTCAGCCCACGGACCGTGCGG GCCCCACTGCTCTGCCTGTCACCTCAGCCCACGGACCGTGCGGGCCCCAC TGCTCTGCCTGTCACCTCAGCCCACGGACCGTGCGGGCCCCACTGCTCTG CCTGTCACCTCAGCCCACGGACCGTGCGGGCCCCACTGCTCTGCCTGTCA CCTCAGCCCACGGACCGTGCGGGCCCCACTGCTCTGC	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RASA3_chr13_113972783_114137623	114010795	G G	GGCCGCGT others(208): Show GGCCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCCGCGTGGGG AGGAGGGGGCCGCGAGGGGAGGAGGGGGGCCGCGTGGGGAGGAGGGGGGC CGCGTGGGGAGGAGGGGGGGGCAGCGAGGGGAGGAGGGGGGGCCGCGTGG GGAGGAGGGGGGCCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGG CTGTGTGGGGAGGAGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0002 a0006c0008t0001g0002	1	67	0.0149	215	c.159 others(232): Show c.1590+375_1590+376insTCTCCTCCCCACACAGCCCCCTCCTCCC CTCGCGGCCCCCTCCTCCCCACGCGGCCCCCCTCCTCCCCACGCGGCCCC CCCTCCTCCCCTCGCTGCCCCCCCCTCCTCCCCACGCGGCCCCCCTCCTC CCCACGCGGCCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACGCGGCC CCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACGCGGC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114043890	G G	GCCCCCCC others(208): Show GCCCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTC GCTGAGCTCCCCCCCCGCCTCACTCGCTGAGCCCCCCCCGCCCCGCCTCA CTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCCGCCCCGC CTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCCG CCTCACTCGCTGAGCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0008 a0001c0013t0008	a0001c0013t0008g0048 a0001c0013t0008g0048	1	67	0.0149	215	c.278 others(232): Show c.278-2797_278-2796insGGCTCAGCGAGTGAGGCGGGGGGGGAGC TCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGG GGGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGCG GGGGGGGCTCAGCGAGTGAGGCGGGGGGGGAGCTCAGCGAGTGAGGCGGG GCGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114044392	C C	CCCCCCCC others(208): Show CCCCCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCGCCTCACTCGC TGAGCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCCGGCCTCACTC GCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCCCCGCCCCGC CTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCC CGCCTCACTCGCTGAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0004 a0007c0011t0004	a0007c0011t0004g0066 a0007c0011t0004g0066	1	67	0.0149	215	c.278 others(232): Show c.278-3299_278-3298insCTCAGCGAGTGAGGCGGGGCGGGGGGGC TCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGG GGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCCGG GGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCG GGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114119595	T T	TCTCTCCA others(208): Show TCTCTCCAGCCAGACGTCGATCAGGGCCCCCCTCCCCTCTCCAGCCAGAC GTCGATCAGGGCCCCCCTCCCCTCTCCAGCCAGACGTCGATCAGGGCCCC CCCTCCCTCTCTCCAGCCAGACGTCGATCAGGGCCCCCCCTCCCTCTCTC CAGCCAGACGTCGATCAGGGCCCCCCCTCCCCTCTCCAGCCTGGCGTCGA TCAGGGCCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0015 a0001c0005t0001g0015	1	67	0.0149	215	c.55+ others(232): Show c.55+12839_55+12840insGGGAGGGGGGCCCTGATCGACGCCAGGC TGGAGAGGGGAGGGGGGGCCCTGATCGACGTCTGGCTGGAGAGAGGGAGG GGGGGCCCTGATCGACGTCTGGCTGGAGAGAGGGAGGGGGGGCCCTGATC GACGTCTGGCTGGAGAGGGGAGGGGGGCCCTGATCGACGTCTGGCTGGAG AGGGGAGGGGGGCCCTGATCGACGTCTGGCTGGAGAG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RGS12_chr4_3288021_3444913	3341502	G G	GGGCGGAG others(208): Show GGGCGGAGGGGAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAG ATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAG GGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGGG GGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGT GGAGAGATGGGGGTGT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0217 a0001c0002t0001g0217	1	312	0.0032	215	c.188 others(234): Show c.1882-1434_1882-1433insGCGGAGGGGAGGGTGGAGAGATGGTG TGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGG AGAGTTGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCG GAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAG ATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RIMOC1_chr5_41899344_41926636	41914456	C C	CAAACAAA others(208): Show CAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAAC AAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAAC AAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAAC AAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAAC AAAACAAAACAAAACA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0036 a0001c0001t0006g0036	1	318	0.0031	215	c.601 others(232): Show c.601+2320_601+2321insACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAA	RIMOC1	ENSG00000205765.10	transcript	ENST00000381647.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
RIPOR3_chr20_50581108_50696542	50666189	T T	TTCTTTTT others(208): Show TTCTTTTTCTTTTTCCTTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTT TCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCC TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	280	0.0036	215	c.3+2 others(230): Show c.3+24936_3+24937insGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAAGGAAAGGAAAGGAA AGGAAAAGGAAAGGAAAGGAAAAGGAAAGGAAAGGAAAGGAAAAGGAAAG GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG GAAAAGGAAAGGAAAGGAAAGGAAAAAGAAAAAGA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(208): Show AATATATATATTTAAATATATATATCTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATACATATTTTAATATATATAATTTAATA TATATCTTTAAATATATATATTTTTAATATATATATTTTTAAATATATAT ATATTTATATATATATTTTTATATATATATATTTATATATATATTTTTAA ATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18957.hp2 NA18963.hp2 others(1): Show NA18939.hp1 NA18957.hp2 NA18963.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0173 a0001c0001t0001g0024 a0001c0001t0001g0173	4	408	0.0098	215	c.182 others(232): Show c.182-2703_182-2702insTATATATATCTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATACATATTTTAATATATATAAT TTAATATATATCTTTAAATATATATATTTTTAATATATATATTTTTAAAT ATATATATATTTATATATATATTTTTATATATATATATTTATATATATAT TTTTAAATATATATATATATTTATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF17_chr13_24759169_24884921	24881816	C C	CTATATAG others(208): Show CTATATAGATGCATCTATATAGATATATAGATGCATCTATATAGATATAT AGATGCATCTATATAGATATATAGATGCATCTATATAGATATATAGATGC ATCTATATAGATATATAGATGCATCTATATATCTATATAGATGCATCTAT ATAGATATATAGATGCATCTATATAGATATATAGATGCATCTATATAGAT ATATAATCTATATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01074.hp2 HG02559.hp1 others(1): Show HG00738.hp2 HG01074.hp2 HG02559.hp1 HG02622.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0011 a0003c0007t0001g0012 a0003c0007t0001g0013 others(1): Show a0003c0007t0001g0011 a0003c0007t0001g0012 a0003c0007t0001g0013 a0003c0007t0001g0015	4	426	0.0094	215	c.20 others(226): Show c.2090_*2091insTATATAGATGCATCTATATAGATATATAGATGCA TCTATATAGATATATAGATGCATCTATATAGATATATAGATGCATCTATA TAGATATATAGATGCATCTATATAGATATATAGATGCATCTATATATCTA TATAGATGCATCTATATAGATATATAGATGCATCTATATAGATATATAGA TGCATCTATATAGATATATAATCTATATAGA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1896		chr13	TogoVar
RPH3AL_chr17_207389_357807	340376	T T	TCAGGCCT others(208): Show TCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCAC ATCCACACTCACTGCCCCTCTCCCAGGCCTCCCCACATCCACACTCACTG CCCCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGC CTCCCCACGTCCACACTCACTGCCCCCTCCCAGGCCTCCCCACATCCACA CTCACTGCCCCCCACC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0001 a0003c0016t0001	a0003c0016t0001g0075 a0003c0016t0001g0075	1	133	0.0075	215	c.-21 others(234): Show c.-212-6443_-212-6442insGGTGGGGGGCAGTGAGTGTGGATGTG GGGAGGCCTGGGAGGGGGCAGTGAGTGTGGACGTGGGGAGGCCTGGGTGG GGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGT GGATGTGGGGAGGCCTGGGAGAGGGGCAGTGAGTGTGGATGTGGGGAGGC CTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPS6KA2_chr6_166404364_166632251	166449945	A A	AGGAACCA others(208): Show AGGAACCACTACAGGGACCACCATGGAGACCACCACAGGGACCGCCATGG GAACCACCATGAGGACCGCCATGGGAACCACCATGAGGACCACCATGGGA ACCACCATGGGGACCACCAGGGAGATCACCATTGGAAACACTACAGGGAC CACCATGGGACAACACGAGGACCACCATGGGAACCACCATGACAGACTAC CACAGGGACCACCAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0019 a0001c0009t0019	a0001c0009t0019g0156 a0001c0009t0019g0156	1	244	0.0041	215	c.120 others(234): Show c.1207-1097_1207-1096insCTTGGTGGTCCCTGTGGTAGTCTGTC ATGGTGGTTCCCATGGTGGTCCTCGTGTTGTCCCATGGTGGTCCCTGTAG TGTTTCCAATGGTGATCTCCCTGGTGGTCCCCATGGTGGTTCCCATGGTG GTCCTCATGGTGGTTCCCATGGCGGTCCTCATGGTGGTTCCCATGGCGGT CCCTGTGGTGGTCTCCATGGTGGTCCCTGTAGTGGTTCC	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	13/20			chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166449945	A A	AGGAACCA others(208): Show AGGAACCACTACAGGGACCACCATGGAGACCACCACAGGGACCGCCATGG GAACCACCATGAGGACCGCCATGGGAACCACCATGAGGACCACCATGGGA ACCACCATGGGGACCACCAGGGAGATCACCATTGGAAACACTACAGGGAC CACCATGGGACAACACGAGGACCACCATGGGAACCACCATGAGAGACTAC CACAGGGACCACCAAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG01192.hp1 others(6): Show HG00642.hp2 HG01081.hp1 HG01192.hp1 HG01243.hp2 HG01358.hp1 HG01433.hp2 HG02922.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0005 a0001c0020 a0001c0024 others(3): Show a0001c0005 a0001c0020 a0001c0024 a0001c0051 a0001c0055 a0001c0059	a0001c0005t0001 a0001c0020t0001 a0001c0024t0001 others(3): Show a0001c0005t0001 a0001c0020t0001 a0001c0024t0001 a0001c0051t0015 a0001c0055t0007 a0001c0059t0015	a0001c0005t0001g0121 a0001c0020t0001g0077 a0001c0020t0001g0176 others(6): Show a0001c0005t0001g0121 a0001c0020t0001g0077 a0001c0020t0001g0176 a0001c0020t0001g0239 a0001c0024t0001g0029 a0001c0024t0001g0040 a0001c0051t0015g0195 a0001c0055t0007g0080 a0001c0059t0015g0153	9	244	0.0369	215	c.120 others(234): Show c.1207-1097_1207-1096insCTTGGTGGTCCCTGTGGTAGTCTCTC ATGGTGGTTCCCATGGTGGTCCTCGTGTTGTCCCATGGTGGTCCCTGTAG TGTTTCCAATGGTGATCTCCCTGGTGGTCCCCATGGTGGTTCCCATGGTG GTCCTCATGGTGGTTCCCATGGCGGTCCTCATGGTGGTTCCCATGGCGGT CCCTGTGGTGGTCTCCATGGTGGTCCCTGTAGTGGTTCC	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	13/20			chr6	TogoVar
RTP5_chr2_241864729_241878823	241878676	C C	CCCTGAGC others(208): Show CCCTGAGCTCTCGTCTGAGGCTGCACCTGAGCCCACACCTGAGCTCTCAT CTGAGGCTGCACCTGAGCCCACACCTGAGCCCTCATCTGAGGTTGCACCT GAGCCCTCCCCTGAGCTCTCGTCTGAGGCTGCACCTGAGCCCACACCTGA GCTCTCGTCTGAGGCTGCACCTGAGCCCACACCTGAGCTCTCGTCTGAGC TACACCTGAGCCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	365	0.0027	215	c.54 others(226): Show c.5402_*5403insCCTGAGCTCTCGTCTGAGGCTGCACCTGAGCCCA CACCTGAGCTCTCATCTGAGGCTGCACCTGAGCCCACACCTGAGCCCTCA TCTGAGGTTGCACCTGAGCCCTCCCCTGAGCTCTCGTCTGAGGCTGCACC TGAGCCCACACCTGAGCTCTCGTCTGAGGCTGCACCTGAGCCCACACCTG AGCTCTCGTCTGAGCTACACCTGAGCCCACA	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4854		chr2	TogoVar

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