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
PCSK5_chr9_75885673_76367975	76063888	A A	ACTTCCCA others(171): Show ACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02622.hp2 HG02976.hp2 others(1): Show HG02109.hp2 HG02622.hp2 HG02976.hp2 NA20129.hp2	a0003 a0006 a0011 others(1): Show a0003 a0006 a0011 a0038	a0003c0057 a0006c0014 a0011c0078 others(1): Show a0003c0057 a0006c0014 a0011c0078 a0038c0062	a0003c0057t0018 a0006c0014t0048 a0011c0078t0001 others(1): Show a0003c0057t0018 a0006c0014t0048 a0011c0078t0001 a0038c0062t0004	a0003c0057t0018g0056 a0006c0014t0048g0115 a0011c0078t0001g0007 others(1): Show a0003c0057t0018g0056 a0006c0014t0048g0115 a0011c0078t0001g0007 a0038c0062t0004g0062	4	166	0.0241	178	c.633 others(195): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76063888	A A	ACTTCCCA others(171): Show ACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGATGG GGTGGCTGGCCGGGCAGAGGGGCTCCTCT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01106.hp1 HG01256.hp1 others(11): Show HG01071.hp1 HG01106.hp1 HG01256.hp1 HG01346.hp2 HG01433.hp2 HG01516.hp2 HG02145.hp1 HG02683.hp2 HG03490.hp2 HG04204.hp1 NA18983.hp1 NA18991.hp1 NA18993.hp1 NA19091.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0004 a0002c0097 others(6): Show a0001c0001 a0001c0004 a0002c0097 a0003c0005 a0005c0002 a0006c0036 a0007c0072 a0008c0003 a0009c0018	a0001c0001t0003 a0001c0001t0008 a0001c0001t0026 others(11): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0026 a0001c0001t0056 a0001c0004t0027 a0002c0097t0002 a0003c0005t0003 a0003c0005t0007 a0005c0002t0005 a0006c0036t0023 a0007c0072t0003 a0008c0003t0016 a0009c0018t0002 a0009c0018t0051	a0001c0001t0003g0156 a0001c0001t0008g0068 a0001c0001t0026g0087 others(11): Show a0001c0001t0003g0156 a0001c0001t0008g0068 a0001c0001t0026g0087 a0001c0001t0056g0028 a0001c0004t0027g0031 a0002c0097t0002g0148 a0003c0005t0003g0147 a0003c0005t0007g0030 a0005c0002t0005g0017 a0006c0036t0023g0004 a0007c0072t0003g0158 a0008c0003t0016g0038 a0009c0018t0002g0067 a0009c0018t0051g0088	14	166	0.0843	178	c.633 others(195): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCCC GGATGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK6_chr15_101298933_101494707	101311636	T T	TCCCTCAC others(171): Show TCCCTCACAGCCCACCACATCATCACACCCTCACAGCTCACCCCATCATT ACACCCTCACAGCCCGCCCCATCATCACCCCTCACAGCCCACCCCATCGT CACCCCTCACAGCTCACCCCATCATCACCCCTCACAGCTCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACA	intron_variant intron_variant	MODIFIER	NA21309.hp1 homoSapiens_chm13v2.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0037 a0001c0047 a0001c0037 a0001c0047	a0001c0037t0002 a0001c0047t0002 a0001c0037t0002 a0001c0047t0002	a0001c0037t0002g0063 a0001c0047t0002g0166 a0001c0037t0002g0063 a0001c0047t0002g0166	2	336	0.0060	178	c.269 others(197): Show c.2699+1739_2699+1740insTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGAGCTGTGAGGGGTGATGATGGGGTGAGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGATGATGGGGCGGGCTGTGAGGG TGTAATGATGGGGTGAGCTGTGAGGGTGTGATGATGTGGTGGGCTGTGAG GG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDCD6_chr5_266646_319974	298658	T T	TCAGCTGC others(171): Show TCAGCTGCTCCCACTCAGCTGCTCCCACTCAGCTGCTCCCACTCAGCTGC TCCCACCCAGCTGCTCCCACCCAGCTGCTCCCCCCAGCTGCTCACCCCCA ACTGCTCCCCCCCAGCTGCTCCCCCCCAGCTGCTCCCCCAGCTGCTCCCC CCTAGCTGCTCCCCCCCAGCTGCTCCCCC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0318 a0001c0002t0001g0318	1	360	0.0028	178	c.164 others(195): Show c.164-5518_164-5341dupCAGCTGCTCCCACTCAGCTGCTCCCACT CAGCTGCTCCCACTCAGCTGCTCCCACCCAGCTGCTCCCACCCAGCTGCT CCCCCCAGCTGCTCACCCCCAACTGCTCCCCCCCAGCTGCTCCCCCCCAG CTGCTCCCCCAGCTGCTCCCCCCTAGCTGCTCCCCCCCAGCTGCTCCCCC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE4D_chr5_58964038_59898726	59200581	C C	CTACACGT others(171): Show CTACACGTATACATACACGTGTATGTACAGCTACACGTATACATACACGT GTATGTACAGATACACGTATACATACACGTGTATGTAGATACACGTATAC ATACACGTGTATGTACAGATACACGTATACATACACGTGTATGTACAGAT ACACGTATACATACACGTGTATGTACAGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	74	0.0135	178	c.648 others(195): Show c.648-7046_648-7045insTCTGTACATACACGTGTATGTATACGTG TATCTGTACATACACGTGTATGTATACGTGTATCTGTACATACACGTGTA TGTATACGTGTATCTACATACACGTGTATGTATACGTGTATCTGTACATA CACGTGTATGTATACGTGTAGCTGTACATACACGTGTATGTATACGTGTA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	2/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59200656	C C	CACGTGTA others(171): Show CACGTGTATGTACAGCTACACGTATACATACACGTGTATGTACAGCTACA CGTATACATACACGTGTATGTACAGATACACGTATACATACACGTGTATG TACAGATACACGTATACATACACGTGTATGTACAGATACACGTATACATA CACGTGTATGTACAGATACACGTATACAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	74	0.0135	178	c.648 others(195): Show c.648-7121_648-7120insATGTATACGTGTATCTGTACATACACGT GTATGTATACGTGTATCTGTACATACACGTGTATGTATACGTGTATCTGT ACATACACGTGTATGTATACGTGTATCTGTACATACACGTGTATGTATAC GTGTAGCTGTACATACACGTGTATGTATACGTGTAGCTGTACATACACGT	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	2/14			chr5	TogoVar
PFKP_chr10_3062548_3141802	3106724	T T	TGCCCCTC others(171): Show TGCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTCTCCTCA CCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGCCCCTTCACCCCTGCCCC TGCCCCTTCACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTCTCCTCACC CCTGCCCCTTCACACCTGCCCCTCTCCTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03139.hp1 HG03540.hp2 HG02630.hp2 HG03139.hp1 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0007 a0001c0016 a0001c0005 a0001c0007 a0001c0016	a0001c0005t0004 a0001c0007t0005 a0001c0016t0009 a0001c0005t0004 a0001c0007t0005 a0001c0016t0009	a0001c0005t0004g0013 a0001c0007t0005g0179 a0001c0016t0009g0180 a0001c0005t0004g0013 a0001c0007t0005g0179 a0001c0016t0009g0180	3	402	0.0075	178	c.775 others(193): Show c.775-484_775-483insCTCCTCACCCCTGCCCCTCTCCTCACCCCT GCCCCTCTCCTCACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGCCCCT TCACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGCCCCTTCACCCCTGC CCCTCTCCTCACCCCTGCCCCTTCACACCTGCCCCTCTCCTCGCCCCT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PHF3_chr6_63630802_63731011	63688231	C C	CCCCCCCC others(171): Show CCCCCCCCTCCCCTCCCCATCCCCTCCCACTCCGCTCGCCTCCCCTCCCC CTCCCCCCGTCCCTCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCAT CCCCCTCCCCTCTCCCATCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCCCTT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	320	0.0031	178	c.218 others(197): Show c.2189+2324_2189+2325insCCCTCCCCTCCCCATCCCCTCCCACT CCGCTCGCCTCCCCTCCCCCTCCCCCCGTCCCTCTCCCATCCCCCTCCCC TCTCCCATCCCCCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCCCTC CCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTTCC CC	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PIK3R1_chr5_68210756_68306821	68262863	G G	GTATACAT others(171): Show GTATACATATATACATGTAGATACATGTAGATACATGTATACATATATAC ATGTAGATACATGTAGATACATGTATACATATATACATGTAGATACATGT AGATACATGTATACATATATACATGTAGATACATGTATACATATATACAT GTAGATACATGTAGATACATGTATACATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0051 a0001c0010t0051	a0001c0010t0051g0230 a0001c0010t0051g0230	1	308	0.0033	178	c.335 others(197): Show c.335-10520_335-10519insATATACATGTAGATACATGTAGATAC ATGTATACATATATACATGTAGATACATGTAGATACATGTATACATATAT ACATGTAGATACATGTAGATACATGTATACATATATACATGTAGATACAT GTATACATATATACATGTAGATACATGTAGATACATGTATACATATATAC AT	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PKD2L1_chr10_100283149_100335228	100314983	G G	GGGAAGGG others(171): Show GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18612.hp1 HG00423.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0143 a0001c0001t0001g0085 a0001c0001t0001g0143	2	306	0.0065	178	c.349 others(197): Show c.349+14227_349+14228insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100314987	G G	GGGAAGGG others(171): Show GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	306	0.0033	178	c.349 others(197): Show c.349+14223_349+14224insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PLA2G4A_chr1_186823949_186993981	186857071	C C	CTTTTAAC others(171): Show CTTTTAACATGGCAGTCATATATAATATATATTATAGAATATTATATATT ATATATTATATAATATATATTATAGAATATTATATATTATATATTATATA ATATATATTATAGAATATATATTATATATTATATAATATAATTATATATT ATGTAATTATATAATTATATAATTATATT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03139.hp2 HG03486.hp1 HG02965.hp1 HG03139.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0179 a0001c0001t0001g0215 a0001c0001t0001g0012 a0001c0001t0001g0179 a0001c0001t0001g0215	3	310	0.0097	178	c.33+ others(193): Show c.33+2684_33+2685insTTTTAACATGGCAGTCATATATAATATATA TTATAGAATATTATATATTATATATTATATAATATATATTATAGAATATT ATATATTATATATTATATAATATATATTATAGAATATATATTATATATTA TATAATATAATTATATATTATGTAATTATATAATTATATAATTATATT	PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	2/17			chr1	TogoVar
PLXDC2_chr10_19811432_20294856	20014363	C C	CTTCCTTC others(171): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTGCTTCCTTCCTTCCTTCCCTCCT TCCTTCCCTCCTTCCTTCCTTCCTCTCTCCCTCTCTCTTTCTCTCCTTCC TTCCTTTTTTCCTTCCTTCCTTCCTTCCCTCCCCCCACTTTCCTTCCTTC CTTCTCCCCACCTCCCTCCCTCCTTCCCT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0018 a0003c0003t0079 a0003c0003t0018 a0003c0003t0079	a0003c0003t0018g0091 a0003c0003t0079g0090 a0003c0003t0018g0091 a0003c0003t0079g0090	2	180	0.0111	178	c.324 others(197): Show c.324+12395_324+12396insCCTTCCTTGCTTCCTTCCTTCCTTCC CTCCTTCCTTCCCTCCTTCCTTCCTTCCTCTCTCCCTCTCTCTTTCTCTC CTTCCTTCCTTTTTTCCTTCCTTCCTTCCTTCCCTCCCCCCACTTTCCTT CCTTCCTTCTCCCCACCTCCCTCCCTCCTTCCCTTTCCTTCCTTCCTTCC TT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP1R12A_chr12_79768568_79940097	79868568	G G	GTAGATGG others(171): Show GTAGATGGCTGCCTTCTTGTTTCTTCACATGGTTTCTTTCCTGTCTATGA GAGGGGCCCTGGTGTCTCTTTTTTGTCCCAATGTCTTCCTCTTATAAGAA AACCAGCCAGACTGGATGAGAAACAACTCCATCAGCCTCATTTTAACTTA ATCATCCCTTTAGAGGCCGCTTCTCCAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02970.hp2 HG02976.hp1 others(1): Show HG02055.hp2 HG02970.hp2 HG02976.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0007 a0001c0002t0010g0008 a0001c0002t0010g0009 others(1): Show a0001c0002t0010g0007 a0001c0002t0010g0008 a0001c0002t0010g0009 a0001c0002t0010g0265	4	312	0.0128	178	c.368 others(195): Show c.368+4062_368+4239dupTTTGGAGAAGCGGCCTCTAAAGGGATGA TTAAGTTAAAATGAGGCTGATGGAGTTGTTTCTCATCCAGTCTGGCTGGT TTTCTTATAAGAGGAAGACATTGGGACAAAAAAGAGACACCAGGGCCCCT CTCATAGACAGGAAAGAAACCATGTGAAGAAACAAGAAGGCAGCCATCTA	PPP1R12A	ENSG00000058272.19	transcript	ENST00000450142.7	protein_coding	2/24			chr12	TogoVar
PRDM15_chr21_41793225_41884344	41865073	C C	CCACTCCC others(171): Show CCACTCCCCTGCTCACTCCTCACTCCCCAGCCCTCTCTGCCATGCCTGCT CACTCCTCAGTCCCCACTCCCCACTCCCCGGCTCACTCCTCACTCCCCTG CTCACTCCTCACTCCCCAGCCCTCTCTGCCATGCCTGCTCACTCCTCAGT CCCCACTCCCCACTCCCCGGCTCACTCCT	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA20752.hp1 HG01361.hp1 NA20752.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0023 a0001c0014t0023	a0001c0014t0023g0156 a0001c0014t0023g0157 a0001c0014t0023g0156 a0001c0014t0023g0157	2	406	0.0049	178	c.-9- others(193): Show c.-9-4702_-9-4701insAGGAGTGAGCCGGGGAGTGGGGAGTGGGGA CTGAGGAGTGAGCAGGCATGGCAGAGAGGGCTGGGGAGTGAGGAGTGAGC AGGGGAGTGAGGAGTGAGCCGGGGAGTGGGGAGTGGGGACTGAGGAGTGA GCAGGCATGGCAGAGAGGGCTGGGGAGTGAGGAGTGAGCAGGGGAGTG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	1/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41865095	C C	CTCCCCAG others(171): Show CTCCCCAGCCCTCTCTGCCATGCCTGCTCACTCCTCAGTCCCCACTCCCC ACTCCCCGGCTCACTCCTCACTCCCCTGCTCACTCCTCATTCCCCAGCCC TCTCTGCCATGCCTGCTCACTCCTCAGTCCCCACTCCCCACTCCCCGGCT CACTCCTCACTCCCCTGCTCACTCCTCAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03834.hp1 HG03239.hp1 HG03834.hp1	a0001 a0001	a0001c0006 a0001c0012 a0001c0006 a0001c0012	a0001c0006t0009 a0001c0012t0002 a0001c0006t0009 a0001c0012t0002	a0001c0006t0009g0316 a0001c0012t0002g0375 a0001c0006t0009g0316 a0001c0012t0002g0375	2	406	0.0049	178	c.-9- others(193): Show c.-9-4724_-9-4723insATGAGGAGTGAGCAGGGGAGTGAGGAGTGA GCCGGGGAGTGGGGAGTGGGGACTGAGGAGTGAGCAGGCATGGCAGAGAG GGCTGGGGAATGAGGAGTGAGCAGGGGAGTGAGGAGTGAGCCGGGGAGTG GGGAGTGGGGACTGAGGAGTGAGCAGGCATGGCAGAGAGGGCTGGGGA	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	1/23			chr21	TogoVar
PRKAR2A_chr3_48741586_48852874	48829590	A A	ATATACAC others(171): Show ATATACACACATAAATGTGTGTGTGTATACGTGTGTATACACACACATAA ATGTGTGTGTGTATACGTGTGTATACACACACATAAATGTGTGTGTGTAT ACGTGTGTATACACACACATAAATGTGTGTGTGTATACGTGTGTATACAC ACACATAAATGTGTGTGTGTATACGTGTG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0044 a0001c0001t0025g0044	1	166	0.0060	178	c.262 others(197): Show c.262+17744_262+17745insCACACGTATACACACACACATTTATG TGTGTGTATACACACGTATACACACACACATTTATGTGTGTGTATACACA CGTATACACACACACATTTATGTGTGTGTATACACACGTATACACACACA CATTTATGTGTGTGTATACACACGTATACACACACACATTTATGTGTGTA TA	PRKAR2A	ENSG00000114302.17	transcript	ENST00000265563.13	protein_coding	1/10			chr3	TogoVar
PRKN_chr6_161342417_162732766	162011198	T T	TATATTAT others(171): Show TATATTATATATAATATAGTATATTTTATAATATATACTATATTATATAT AATATAGTATATATTTATAATATATACTATATATAATATATTATATTTTA TAATATATACTATATATAATATGGTATATATTTATAATATATACTATATA TAATATGGTATATATTTATAATATATACC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0015 a0003c0005t0001g0015	1	32	0.0313	178	c.619 others(197): Show c.619-37782_619-37781insGGTATATATTATAAATATATACCATA TTATATATAGTATATATTATAAATATATACCATATTATATATAGTATATA TTATAAAATATAATATATTATATATAGTATATATTATAAATATATACTAT ATTATATATAATATAGTATATATTATAAAATATACTATATTATATATAAT AT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162011224	T T	TATAATAT others(171): Show TATAATATATACTATATTATATATAGTATATATTATAATATATACTATAT ATATATATAATATAGTATATATTTATAATATATACTATATATAATATAGT ATATTTTATAAAATATTACTATATTATATATAATATAGTATATTTTATAA TATAATACTATATTATATATAATATAGTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0019 a0002c0002t0004g0019	1	32	0.0313	178	c.619 others(197): Show c.619-37808_619-37807insTACTATATTATATATAATATAGTATT ATATTATAAAATATACTATATTATATATAATATAGTAATATTTTATAAAA TATACTATATTATATATAGTATATATTATAAATATATACTATATTATATA TATATATAGTATATATTATAATATATACTATATATAATATAGTATATATT AT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11			chr6	TogoVar
PSD3_chr8_18522303_19018703	18594213	T T	TTATTATA others(171): Show TTATTATATATATTATATAATATATATTATTATATATATTATATAATATA TATTATTATATATATAATAATATATATTATTATATATATTATATAATATA TATTATTATATATATTATATAATATATATTATATATATATTATATAATAT ATATTATTATATATATTATATAATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0090 a0001c0001t0047g0090	1	228	0.0044	178	c.248 others(197): Show c.2481+6150_2481+6151insTATATATTATATAATATATATAATAA TATATATTATATAATATATATATAATATATATTATATAATATATATAATA ATATATATTATATAATATATATAATAATATATATTATTATATATATAATA ATATATATTATATAATATATATAATAATATATATTATATAATATATATAA TA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15			chr8	TogoVar
PSME4_chr2_53859069_53975993	53940896	A A	AATATATA others(171): Show AATATATATAATACATATTTAAATATATATAATACATATTTAAATATATA TAATACATATTTAAATATATATAATACATATTTAAATATATATATATAAT ACATATTTAAATATATATAATACATATTTAAATATATATATATAATACAT ATTTAAATATATATAATACATATTTAAAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0079 a0002c0003t0002g0079	1	384	0.0026	178	c.501 others(193): Show c.501-897_501-896insATTTAAATATGTATTATATATATTTAAATA TGTATTATATATATATATTTAAATATGTATTATATATATTTAAATATGTA TTATATATATATATTTAAATATGTATTATATATATTTAAATATGTATTAT ATATATTTAAATATGTATTATATATATTTAAATATGTATTATATATAT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	3/46			chr2	TogoVar
PTP4A2_chr1_31901421_31943368	31922617	T T	TGTCTCCC others(171): Show TGTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0142 a0001c0001t0058g0142	1	354	0.0028	178	c.-59 others(197): Show c.-593-2960_-593-2959insGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG AC	PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	1/5			chr1	TogoVar
PTPN12_chr7_77532295_77645069	77534008	A A	ACTGGCCG others(171): Show ACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCGGGATGGGGGGCTGAC CCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CGCCCCCACCTCCCTCCCGGACGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG03927.hp2 HG01261.hp1 HG03927.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0222 a0003c0003t0001g0202 a0002c0002t0001g0222 a0003c0003t0001g0202	2	310	0.0065	178	c.-35 others(189): Show c.-3539_-3538insCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCG GGATGGGGGGCTGACCCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGC CGGGCGGGGGGCTGACGCCCCCACCTCCCTCCCGGACGGGGCGG	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		3286		chr7	TogoVar
PTPN12_chr7_77532295_77645069	77534008	A A	ACTGGCCG others(171): Show ACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCGGGATGGGGGGGCTGA CCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CGCCCCCACCTCCCTCCCGGACGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG03927.hp1 HG02738.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0291 a0001c0001t0001g0239 a0001c0001t0001g0291	2	310	0.0065	178	c.-35 others(189): Show c.-3539_-3538insCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCG GGATGGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGC CGGGCGGGGGGCTGACGCCCCCACCTCCCTCCCGGACGGGGCGG	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		3286		chr7	TogoVar
PTPN9_chr15_75458251_75584315	75481479	A A	AGGTGAGG others(171): Show AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCC CCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGCCC CCCGCCTGGCCAGCCGCCCCGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	326	0.0031	178	c.106 others(197): Show c.1063-1566_1063-1565insCTCCCGGACGGGGCGGCTGGCCAGGC GGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTG GGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCT GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75481624	C C	CCCACCCG others(171): Show CCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGCCCC CCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTC CGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCAGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0005 a0001c0001t0010g0005	1	326	0.0031	178	c.106 others(197): Show c.1063-1711_1063-1710insAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGG GCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGG CGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGGGT GG	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
PTPRG_chr3_61556571_62302609	61671741	T T	TGGACGGG others(171): Show TGGACGGGGCGGCTGGCTGGGCAGGGGGCTGACCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGCGGCGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG TGGCCGGGCAGAGGCGCCCCTCACCTCCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19240.hp1 HG02145.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0090 a0001c0001t0006g0036 a0001c0001t0001g0090 a0001c0001t0006g0036	2	94	0.0213	178	c.86- others(195): Show c.86-77121_86-77120insTGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCGGGCGGCGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61671742	G G	GGACGGGG others(171): Show GGACGGGGCGGCTGGCTGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGCGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02683.hp2 HG03017.hp2 others(1): Show HG02040.hp1 HG02683.hp2 HG03017.hp2 HG03239.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0002c0003t0001 a0003c0004t0003 a0001c0001t0001 a0002c0003t0001 a0003c0004t0003	a0001c0001t0001g0072 a0001c0001t0001g0079 a0002c0003t0001g0017 others(1): Show a0001c0001t0001g0072 a0001c0001t0001g0079 a0002c0003t0001g0017 a0003c0004t0003g0008	4	94	0.0426	178	c.86- others(195): Show c.86-77121_86-77120insTGGGTGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGCGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61671742	G G	GGACGGGG others(171): Show GGACGGGGCGGCTGGCTGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGCGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(46): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01496.hp1 HG01496.hp2 HG02027.hp1 HG02040.hp2 HG02145.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02559.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG04199.hp1 HG04199.hp2 NA19087.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0005 a0001c0015 others(8): Show a0001c0001 a0001c0005 a0001c0015 a0001c0019 a0002c0002 a0002c0003 a0003c0004 a0003c0012 a0004c0006 a0005c0010 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0005t0001 a0001c0005t0009 a0001c0005t0017 a0001c0015t0001 a0001c0019t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 a0002c0003t0001 a0002c0003t0008 a0002c0003t0014 a0003c0004t0001 a0003c0004t0007 a0003c0004t0013 a0003c0012t0012 a0004c0006t0001 a0004c0006t0002 a0005c0010t0002 a0005c0011t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(46): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0085 a0001c0001t0002g0035 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0086 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0003g0012 a0001c0001t0003g0015 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0006g0037 a0001c0001t0007g0084 a0001c0005t0001g0014 a0001c0005t0009g0022 a0001c0005t0017g0038 a0001c0015t0001g0011 a0001c0019t0001g0069 a0002c0002t0001g0064 a0002c0002t0002g0020 a0002c0002t0002g0046 a0002c0002t0002g0051 a0002c0002t0002g0078 a0002c0002t0002g0092 a0002c0002t0011g0056 a0002c0003t0001g0067 a0002c0003t0008g0016 a0002c0003t0008g0019 a0002c0003t0014g0007 a0003c0004t0001g0002 a0003c0004t0001g0070 a0003c0004t0007g0076 a0003c0004t0013g0054 a0003c0012t0012g0049 a0004c0006t0001g0027 a0004c0006t0002g0094 a0005c0010t0002g0058 a0005c0011t0002g0080	49	94	0.5213	178	c.86- others(195): Show c.86-77121_86-77120insTGGGTGGGGGGCTGACCCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCGGGCGGCGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRU_chr1_29231522_29331800	29270279	T T	TAAAGTAG others(171): Show TAAAGTAGGCATCTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGT CCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0012 a0012	a0012c0030 a0012c0030	a0012c0030t0004 a0012c0030t0004	a0012c0030t0004g0087 a0012c0030t0004g0087	1	296	0.0034	178	c.114 others(197): Show c.1145-5157_1145-5156insTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTAGGCA TC	PTPRU	ENSG00000060656.20	transcript	ENST00000373779.8	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
PXDN_chr2_1626887_1749515	1720039	G G	GATGCAGA others(171): Show GATGCAGAGAGAGAGGGAGGGGAGGGATGTAGAGAGAGAGAGGGAGGGAT GCAGAGAGAGAGGGAGGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGG GATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGGGAGG GAGGGATGCAGAGAGAGAGGGAGGGAAGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0025 a0001c0044t0025	a0001c0044t0025g0210 a0001c0044t0025g0210	1	322	0.0031	178	c.200 others(197): Show c.200+24216_200+24217insTCTTCCCTCCCTCTCTCTCTGCATCC CTCCCTCCCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGC ATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCCTCCCTCTCTCTC TGCATCCCTCCCTCTCTCTCTCTACATCCCTCCCCTCCCTCTCTCTCTGC AT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXYLP1_chr3_141226825_141299924	141272573	C C	CATATATA others(171): Show CATATATATATATTTATAAAGGGGAGTTTATTAAGTATTAACTCACACGA TCACAAGGTCCCACAATAGGCTGTCGGCAGGCTGGGGAGCAAGGAAAGCC AGTCCAAGTTCCAAAACTGAGGAACTTGGATCCCACTCCTGGGCTCTCTA GAGGGACAGAACTAATGGAATATATACAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	384	0.0026	178	c.80- others(193): Show c.80-5769_80-5768insATATATATATATTTATAAAGGGGAGTTTAT TAAGTATTAACTCACACGATCACAAGGTCCCACAATAGGCTGTCGGCAGG CTGGGGAGCAAGGAAAGCCAGTCCAAGTTCCAAAACTGAGGAACTTGGAT CCCACTCCTGGGCTCTCTAGAGGGACAGAACTAATGGAATATATACAT	PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	2/5			chr3	TogoVar
RAD17_chr5_69364818_69419801	69377594	T T	TATGCATA others(171): Show TATGCATATATATGCATATATATGTATGCATATATATATGCATATATATG TATACATATATATGCATATATATGTATACATATATATGCATATATATGTA TACATATATATGCATATATATATGCATACATATATATGCATACATATATG CATGCATATATATATGCATACATATATGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01175.hp2 HG01192.hp2 others(2): Show HG00099.hp1 HG01175.hp2 HG01192.hp2 HG03490.hp2 NA18946.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0122 a0002c0002t0001g0146 others(2): Show a0002c0002t0001g0013 a0002c0002t0001g0122 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148	5	359	0.0139	178	c.351 others(195): Show c.351+2895_351+2896insGCATATATATGTATGCATATATATATGC ATATATATGTATACATATATATGCATATATATGTATACATATATATGCAT ATATATGTATACATATATATGCATATATATATGCATACATATATATGCAT ACATATATGCATGCATATATATATGCATACATATATGCATGCATATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAPGEF1_chr9_131571775_131745076	131586927	A A	AACACACA others(171): Show AACACACACACACACACACACACCTGCAGAGCGAGACTCCGTCTCAAACA CACACACACACACCTGCAGAGCGAGACTCCGTCAAACACACACACACACA CACACACACACACCTGCAGAGCGAGACTCCGTCTCAAACACACACACACA CACCTGCAGAGCGAGACTCCGTCTCAAAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0069 a0001c0005t0012g0069	1	368	0.0027	178	c.323 others(195): Show c.3233+808_3233+809insGTTTGAGACGGAGTCTCGCTCTGCAGGT GTGTGTGTGTGTGTTTGAGACGGAGTCTCGCTCTGCAGGTGTGTGTGTGT GTGTGTGTGTGTGTGTTTGACGGAGTCTCGCTCTGCAGGTGTGTGTGTGT GTGTTTGAGACGGAGTCTCGCTCTGCAGGTGTGTGTGTGTGTGTGTGTGT	RAPGEF1	ENSG00000107263.19	transcript	ENST00000683357.1	protein_coding	22/26			chr9	TogoVar
RBFOX1_chr16_6014024_7718340	6450843	A A	ACATATAT others(171): Show ACATATATATATGTATATATATATATACATATATATATGTATATATATAT ATATACATATATATGTATATATATATACATATATGTATATATATATACAT ATATATATGTATATATATATATACATATATGTATATATATATACATATAT ATGTGTATATATATATACATATATATATG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0021 a0001c0001t0041g0021	1	68	0.0147	178	c.-64 others(199): Show c.-64+133786_-64+133787insCATATATATATGTATATATATATA TACATATATATATGTATATATATATATATACATATATATGTATATATATA TACATATATGTATATATATATACATATATATATGTATATATATATATACA TATATGTATATATATATACATATATATGTGTATATATATATACATATATA TATG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15			chr16	TogoVar
RBM19_chr12_113817057_113971325	113837246	T T	TACACACA others(171): Show TACACACACACACACACACACACACACACACACACACGTGTGCTACTGCC CAGGCTTATAACCCATCCTCCTAATACACACACACACACACACACACACA CACACACACACACACACTCTCACGTGCTACTGCCCAGGCTTATAACCCAT CCTCCTAATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0320 a0001c0006t0010g0320	1	356	0.0028	178	c.278 others(197): Show c.2785+7421_2785+7422insGTGTGTGTGTGTGTGTGTGTATTAGG AGGATGGGTTATAAGCCTGGGCAGTAGCACGTGAGAGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTATTAGGAGGATGGGTTATAAGC CTGGGCAGTAGCACACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	23/23			chr12	TogoVar
RBM5_chr3_50083919_50124021	50084941	A A	ACCCCCCC others(171): Show ACCCCCCCCACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTGCCGG ACGGGGTGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGA CGGGGCGGCTGGCCAGGCGGGGGGCTGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	284	0.0035	178	c.-41 others(189): Show c.-4142_-4141insCCCCCCCCACCTCCCTCCCGGACGGAGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTGCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGATCCCCC CACCTCCCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTGAC	RBM5	ENSG00000003756.17	transcript	ENST00000347869.8	protein_coding		3977		chr3	TogoVar
RCOR1_chr14_102587649_102735561	102676493	A A	AGGGCGGC others(171): Show AGGGCGGCTGGCCGACCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGG GGCTGATCCCCCCACCTCCCTCCCGGACG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	292	0.0034	178	c.362 others(195): Show c.362-5379_362-5378insCCCCCCCCCCCCGCCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676508	C C	CCCCCCCC others(171): Show CCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01891.hp2 HG03139.hp1 HG00609.hp1 HG01891.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0044 a0001c0001t0002 a0001c0001t0004 a0001c0001t0044	a0001c0001t0002g0212 a0001c0001t0004g0178 a0001c0001t0044g0202 a0001c0001t0002g0212 a0001c0001t0004g0178 a0001c0001t0044g0202	3	292	0.0103	178	c.362 others(195): Show c.362-5379_362-5378insCCCCCCCCCCCCCGCCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGG GCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676508	C C	CCCCCCCC others(171): Show CCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCTGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	292	0.0034	178	c.362 others(195): Show c.362-5379_362-5378insCCCCCCCCCCCCCGCCTCCCTCCTGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGG GCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RFLNA_chr12_124290093_124321024	124296139	T T	TCTTTCTT others(171): Show TCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTCTCTCTTTCTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0103 a0001c0002t0002g0103	1	388	0.0026	178	c.207 others(193): Show c.207+503_207+504insCTTTCTTTCTTTCTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTTTCTCTCTCTCTCTCTCT TTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2			chr12	TogoVar
RIOK2_chr5_97155867_97188247	97180142	G G	GTATATAT others(171): Show GTATATATATATATATGTATATATATATATGTATATATATATATGTATAT ATATATATGTATATATATATATGTATATATATATGTATATATATATATGT ATATATATATATGTATATATATATATATGTATATATATATATGTATATAT ATATATATGTATATATATATATACGTATA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0122 a0005c0006t0003g0122	1	410	0.0024	178	c.67- others(191): Show c.67-950_67-949insTATACGTATATATATATATACATATATATATA TATACATATATATATATACATATATATATATATACATATATATATATACA TATATATATATACATATATATATACATATATATATATACATATATATATA TACATATATATATATACATATATATATATACATATATATATATATA	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIPOR3_chr20_50581108_50696542	50666183	A A	ATTTCTTC others(171): Show ATTTCTTCTTTTCTTTTCTTTTCTTTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0112 a0003c0005t0002g0112	1	280	0.0036	178	c.3+2 others(193): Show c.3+24942_3+24943insAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAGAAAAGAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNASE10_chr14_20500537_20518884	20506780	C C	CCGCCCGG others(171): Show CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCC CTCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0067 a0002c0002t0024g0067	1	396	0.0025	178	c.-6+ others(191): Show c.-6+761_-6+762insCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGATCAGCCCCCCTCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1			chr14	TogoVar
RNASE10_chr14_20500537_20518884	20506780	C C	CGCCCGGC others(171): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCC CTCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG04115.hp1 HG03831.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0012 a0001c0001t0010 a0001c0001t0012	a0001c0001t0010g0065 a0001c0001t0012g0079 a0001c0001t0010g0065 a0001c0001t0012g0079	2	396	0.0051	178	c.-6+ others(191): Show c.-6+799_-6+800insGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGATCAGCCCCCCTCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNASE10_chr14_20500537_20518884	20506780	C C	CGCCCGGC others(171): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCC CTCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0068 a0001c0001t0013g0068	1	396	0.0025	178	c.-6+ others(191): Show c.-6+799_-6+800insGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGATCAGCCCCCCCTCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNF223_chr1_1065967_1079306	1076001	T T	TGGGGACT others(171): Show TGGGGACTCCATCGGGGGAGGCTGAGTCTATGGGGACTCCGTGGGGGGAG GCTGAGGCTATGGGGACTCCGTGGGGCAGGCTGAGGCTACGGTGACTCCG TGCAGGGCTGTGAGGCTACGGGGACTCCGTGGGGGGTGGCTGAGGCTACG GGGACTCCGTGGGGGGTGGCTGAGGCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	324	0.0031	178	c.-19 others(189): Show c.-1996_-1995insGTAGCCTCAGCCACCCCCCACGGAGTCCCCGTAG CCTCAGCCACCCCCCACGGAGTCCCCGTAGCCTCACAGCCCTGCACGGAG TCACCGTAGCCTCAGCCTGCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGACTCAGCCTCCCCCGATGGAGTCCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		1696		chr1	TogoVar
RPA3_chr7_7631518_7723607	7679384	A A	ATATATTT others(171): Show ATATATTTAGTTTATAGATACATGTTTATATATTTAGTTTATAGATAATA TATATTTATATATTTAGTTTATAGATAATATATATTTATATATTTAGTTT ATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTA TATATTTAGTTTATAGATAAATATATATT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0290 a0001c0001t0005g0290	1	308	0.0033	178	c.-75 others(197): Show c.-758+6445_-758+6446insAATATATATTTATCTATAAACTAAAT ATATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATC TATAAACTAAATATATAAATATATATTATCTATAAACTAAATATATAAAT ATATATTATCTATAAACTAAATATATAAACATGTATCTATAAACTAAATA TA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	340498	G G	GTCCACAC others(171): Show GTCCACACTCACTGCCCCCTCCCAGGCCTCCCCACATCCACACTCACTGC CCCCTCCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCT CCCCACATCCACACTCACTGCCTCCCACCCAGGCCTCCCCACATCCACAC TCACTGCCCTGGGCCCAGGCCTCCCCACA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01358.hp2 HG01361.hp2 HG01192.hp1 HG01358.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0061 a0001c0001t0013g0107 a0001c0001t0013g0108 a0001c0001t0002g0061 a0001c0001t0013g0107 a0001c0001t0013g0108	3	133	0.0226	178	c.-21 others(197): Show c.-212-6565_-212-6564insTGTGGGGAGGCCTGGGCCCAGGGCAG TGAGTGTGGATGTGGGGAGGCCTGGGTGGGAGGCAGTGAGTGTGGATGTG GGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGAG GGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGAGGGGGCAGTGAGTGTG GA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80862598	A A	AGCTCCGC others(171): Show AGCTCCGCCCACCATGATGTCTGCTCCGCCCCCTCCTCGTGTTGCTGGTG GTCCTCCGGGGCTCCGCCCACCATGATGTCTGCTCCGCCCCCCTCCTCGT GTTGCTGGTGGTCCTCTGGAGCTCCGCCCACCATGATGTCTGCTCCGCCC CCTCCTCGTGTTGCTGGTGGTCCTCCGGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0025 a0001c0029t0025	a0001c0029t0025g0153 a0001c0029t0025g0153	1	196	0.0051	178	c.150 others(197): Show c.1509+4789_1509+4790insCTCCTCGTGTTGCTGGTGGTCCTCTG GAGCTCCGCCCACCATGATGTCTGCTCCGCCCCCTCCTCGTGTTGCTGGT GGTCCTCCGGGGCTCCGCCCACCATGATGTCTGCTCCGCCCCCTCCTCGT GTTGCTGGTGGTCCTCCGGGGCTCCGCCCACCATGATGTCTGCTCCGCCC CC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar

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