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
PLPP3_chr1_56489761_56584563	56530382	T T	TTGGCCCA others(308): Show TTGGCCCAATTCCAATCTTCTGCTAACTCTCCCACCTGGAGATGTTAGTA GCATTTCAAATTAACCAAGTCTAAGGTCACACCCATTCCCACTCCTGTCC CAAACTTCACTTCTCTTCCCTCTAGTTCTGCTCAAGATGCCACCAAGCAT ATGACTGACAAAGATGTGCAATCTTAGACTCCTTCCTCTCCCTTATCCCA TTGTCCATCCGGCTTTTGCAAGGTCTTTTGCATCCATCTTTTTCTATTTC CCTTGCATTGCCACCACTGTGGTTCAGGCCTCATCTTTACCTTGCAGCCT ACCCCTTTCCCCTAAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0304 a0001c0002t0001g0304	1	336	0.0030	315	c.298 others(332): Show c.298-5829_298-5828insGTTAGGGGAAAGGGGTAGGCTGCAAGGT AAAGATGAGGCCTGAACCACAGTGGTGGCAATGCAAGGGAAATAGAAAAA GATGGATGCAAAAGACCTTGCAAAAGCCGGATGGACAATGGGATAAGGGA GAGGAAGGAGTCTAAGATTGCACATCTTTGTCAGTCATATGCTTGGTGGC ATCTTGAGCAGAACTAGAGGGAAGAGAAGTGAAGTTTGGGACAGGAGTGG GAATGGGTGTGACCTTAGACTTGGTTAATTTGAAATGCTACTAACATCTC CAGGTGGGAGAGTTAGCAGAAGATTGGAATTGGGCCA	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	2/5			chr1	TogoVar
PLXDC2_chr10_19811432_20294856	19843073	T T	TAAAATTT others(308): Show TAAAATTTACCGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0126 a0002c0002t0126	a0002c0002t0126g0157 a0002c0002t0126g0157	1	180	0.0056	315	c.112 others(334): Show c.112+25895_112+25896insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTTACCGGA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	19916316	T T	TTGTATTT others(308): Show TTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCACCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02896.hp2 HG02965.hp1 others(10): Show HG01496.hp1 HG02896.hp2 HG02965.hp1 HG03139.hp2 HG03209.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp2 NA18959.hp1 NA18965.hp1 NA19085.hp1 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0028 a0001c0001t0062 a0001c0001t0068 others(9): Show a0001c0001t0028 a0001c0001t0062 a0001c0001t0068 a0001c0001t0130 a0002c0002t0002 a0002c0002t0005 a0002c0002t0020 a0002c0002t0024 a0002c0002t0093 a0002c0002t0112 a0003c0003t0042 a0004c0004t0077	a0001c0001t0028g0155 a0001c0001t0028g0161 a0001c0001t0062g0171 others(10): Show a0001c0001t0028g0155 a0001c0001t0028g0161 a0001c0001t0062g0171 a0001c0001t0068g0173 a0001c0001t0130g0156 a0002c0002t0002g0172 a0002c0002t0005g0113 a0002c0002t0020g0080 a0002c0002t0024g0043 a0002c0002t0093g0119 a0002c0002t0112g0035 a0003c0003t0042g0022 a0004c0004t0077g0079	13	180	0.0722	315	c.113 others(334): Show c.113-85447_113-85446insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCACCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTGTATTTTTTTT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP1R36_chr14_64544961_64594381	64548317	T T	TGAGTTTC others(308): Show TGAGTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCTGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG02615.hp1 HG02723.hp2 others(1): Show HG01496.hp1 HG02615.hp1 HG02723.hp2 HG03453.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0007 a0002c0002 a0005c0007	a0002c0002t0001 a0005c0007t0003 a0002c0002t0001 a0005c0007t0003	a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0210 others(1): Show a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0210 a0005c0007t0003g0147	4	328	0.0122	315	c.-16 others(326): Show c.-1681_-1680insGAGTTTCTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCTGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCC	PPP1R36	ENSG00000165807.8	transcript	ENST00000298705.6	protein_coding		1643		chr14	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(308): Show CCCCGCTCATCCTACCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGT GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCCCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	210	0.0048	315	c.387 others(334): Show c.387+26127_387+26128insACCGGCCCCCTCGCTGCGGTCCTCCC GCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGC CCCCTCGCTGTGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTC CTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTC CCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTG CGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCCCCCGCTCA TCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(308): Show CCCCGCTCATCCTCCCGGCCCCCTCCCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGAGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTACCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02895.hp2 HG01891.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0058 a0001c0001t0042 a0001c0001t0058	a0001c0001t0042g0124 a0001c0001t0058g0043 a0001c0001t0042g0124 a0001c0001t0058g0043	2	210	0.0095	315	c.387 others(334): Show c.387+26139_387+26140insCCTGCGGTCCTCCCGCTCATCCTCCC GGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCG GTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGAGGTCCTCCCGCTCATC CTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTACCGGCCCCCTCG CTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGC TCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCC CCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(308): Show CCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTACCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC CCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCCCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0163 a0001c0002t0015g0163	1	210	0.0048	315	c.387 others(334): Show c.387+26143_387+26144insCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTACCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCCCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCCCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(308): Show CCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0123 a0002c0003t0004g0123	1	210	0.0048	315	c.387 others(334): Show c.387+26143_387+26144insCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRIMA1_chr14_93713298_93793485	93722007	C C	CTAGTGGT others(308): Show CTAGTGGTGATGCTGGTGGTAATGGGGTGATGGTGGTAGTGGTGATGCTG GTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGG TGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGA TGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGG GGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGT GGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGT AATGGGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0002 a0001c0004t0001g0002	2	397	0.0050	315	c.360 others(330): Show c.360-462_360-461insCCACCACCACCCCATTACCACCAGCATCAC CACTACCACCACCACCCCATTACCACCAGCATCACCACTACCACCACCAC CCCATTACCACCAGCATCACCACTACCACCACCACCCCATTACCACCAGC ATCACCACTACCACCACCACCCCATTACCACCAGCATCACCACTACCACC ACCACCCCATTACCACCAGCATCACCACTACCACCACCACCCCATTACCA CCAGCATCACCACTACCACCACCACCCCATTACCACCAGCATCACCACTA CCACCATCACCCCATTACCACCAGCATCACCACTA	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRPF31_chr19_54110754_54136713	54134145	C C	CCTCTCCA others(308): Show CCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCT CCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCTT CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTC TCCACCTCCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	227	0.0044	315	c.27 others(326): Show c.2713_*2714insCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTC CCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTC TCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCC ACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCT CCTTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCT CTCTCTCCCTCCCTCTCCACCTCCCCTCTCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2433		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54134289	C C	CTCCACCT others(308): Show CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCCAC CTCCCCTCTCTCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	227	0.0044	315	c.28 others(326): Show c.2857_*2858insTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCT CTCTCCACCTCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCC TCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCC CTCCCTCTCTCCCACCTCCCCTCTCTCTCTT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2577		chr19	TogoVar
PRPH2_chr6_42691598_42727597	42702568	T T	TAAGAAAT others(308): Show TAAGAAATATCTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAA AAAAAAAAAAAAAAGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0156 a0001c0001t0006g0156	1	392	0.0026	315	c.828 others(332): Show c.828+1796_828+1797insTCTTTTTTTTTTTTTTTTTTGAGACGGA GTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCAGAGATATTTCTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	2/2			chr6	TogoVar
PRR23D2_chr8_7773591_7786413	7783380	T T	TAAAGACG others(308): Show TAAAGACGTGGCTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0020	1	122	0.0082	315	c.-21 others(326): Show c.-2145_-2144insTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCAGAGCCACGTCTTT	PRR23D2	ENSG00000255378.1	transcript	ENST00000528972.1	protein_coding		1968		chr8	TogoVar
PRRC2B_chr9_131389086_131505193	131420480	T T	TTCCCTTT others(308): Show TTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTT CCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCC CTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCT TTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTT CCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCC CTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCT TTCCCTTTCCCTTTCC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0008 a0002c0018t0008	a0002c0018t0008g0207 a0002c0018t0008g0208 a0002c0018t0008g0207 a0002c0018t0008g0208	2	216	0.0093	315	c.-51 others(332): Show c.-51-9614_-51-9613insTCCCTTTCCCTTTCCCTTTCCCTTTCCC TTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTT TCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTC CCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCC TTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTT TCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTC CCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCC	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31			chr9	TogoVar
PRRX2_chr9_129660647_129727674	129689821	T T	TGGCTCAC others(308): Show TGGCTCACTGCAACCTCTGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCA GTCTCCAGAGTAGCTGGAATTACAGGCATGCGCCACCACACCCAGCTAAT TTTTGTATTTGTAGTAGGGACGGGGTTTCGCCATGTTAGTCAGGCTGGTC TCAAACTGCTGACCTCAGGTGATTCGCCCGTCTCAGCCTCCCAACGTGTT GGGATTACAGGCATGAGCCACTGTGCCCAGCCAATGGCATCTTTTTTTTT TTTTTTTTCTTTTTCTGAGATGAAGTCTCACTCTGTTGCCAGGCTGGAGT GCAGTGGCGTGATCTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02145.hp1 others(8): Show HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02630.hp2 HG02647.hp2 HG02922.hp2 HG02976.hp1 HG03195.hp2 HG03471.hp2 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 a0001c0001t0022	a0001c0001t0001g0015 a0001c0001t0001g0076 a0001c0001t0001g0081 others(8): Show a0001c0001t0001g0015 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0002g0070 a0001c0001t0002g0266 a0001c0001t0002g0302 a0001c0001t0002g0315 a0001c0001t0010g0346 a0001c0001t0010g0347 a0001c0001t0012g0264 a0001c0001t0022g0337	11	358	0.0307	315	c.259 others(334): Show c.259+23719_259+23720insGGGTTCAAGTGATTCTCCTGCCTCAG TCTCCAGAGTAGCTGGAATTACAGGCATGCGCCACCACACCCAGCTAATT TTTGTATTTGTAGTAGGGACGGGGTTTCGCCATGTTAGTCAGGCTGGTCT CAAACTGCTGACCTCAGGTGATTCGCCCGTCTCAGCCTCCCAACGTGTTG GGATTACAGGCATGAGCCACTGTGCCCAGCCAATGGCATCTTTTTTTTTT TTTTTTTCTTTTTCTGAGATGAAGTCTCACTCTGTTGCCAGGCTGGAGTG CAGTGGCGTGATCTCGGCTCACTGCAACCTCTGTCTCCC	PRRX2	ENSG00000167157.11	transcript	ENST00000372469.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
PTPRD_chr9_8309246_10618002	10461248	T T	TAAGAATG others(308): Show TAAGAATGGGGGAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03579.hp2 HG02055.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0009 a0001c0001t0014 a0001c0002t0009	a0001c0001t0014g0008 a0001c0002t0009g0017 a0001c0001t0014g0008 a0001c0002t0009g0017	2	34	0.0588	315	c.-59 others(338): Show c.-599-120232_-599-120231insTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCTTTTCCCCCATTCTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
RAB27B_chr18_54823477_54900516	54873642	C C	CAAAAAAA others(308): Show CAAAAAAATCACATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGAGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02145.hp1 HG03471.hp2 HG00642.hp1 HG02145.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0018 a0002c0003t0031 a0001c0001t0001 a0001c0001t0018 a0002c0003t0031	a0001c0001t0001g0323 a0001c0001t0018g0119 a0002c0003t0031g0108 a0001c0001t0001g0323 a0001c0001t0018g0119 a0002c0003t0031g0108	3	334	0.0090	315	c.-19 others(332): Show c.-19-3911_-19-3910insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGAGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAATCACATA	RAB27B	ENSG00000041353.10	transcript	ENST00000262094.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(308): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCAGGCCCACCATCCCCACCATCCCCACCAGG CCCACCATCCCCACCAGGCTCACCAGGCCCACCATCCCCACCAGGCCCAC CAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGGC CCACCAGGCCCACCATCCCCATCAGGCCCACCAGGCCCACCATCCCCACC AGGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCC CACCAGGCCCACCAGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0098 a0001c0003t0020g0098	1	330	0.0030	315	c.397 others(328): Show c.397-73_397-72insCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGG TGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGC CTGGTGGGCCTGATGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGT GGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGA TGGTGGGCCTGGTGAGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTG GGGATGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGAT GGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(308): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CCCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCAGGCCCAC CATCCCCATCAGGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGGC CCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACC AGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCC CACCATCCCCACCAGG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0278 a0001c0001t0001g0280	2	330	0.0061	315	c.397 others(328): Show c.397-73_397-72insCCTGGTGGGGATGGTGGGGATGGTGGGCCTGG TGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGC CTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGT GGGGATGGTGGGCCTGGTGGGCCTGATGGGGATGGTGGGCCTGGTGGGCC TGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTG GGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGAT GGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RAD21L1_chr20_1221044_1260876	1258586	G G	GTTTGGGA others(308): Show GTTTGGGATCTTCCCTCTTTTCTAATACAAACACATAAAGCTCTGTTTCC TTCTAGGTAACTGATTTGAGATCTTCCCTCTTTTATAATATAAACACATA AAGCTCTGTTTCCTTCTAGGTAACTGATTTGGGATCTTCCCTCTTTTCTA ATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCT TCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAAC TGGTTTGGGATCTTCCCTCTTTTCTAATACAAACACATAAAGCTCTGTTT CCTTCTAGGTAACTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	364	0.0028	315	c.41 others(326): Show c.4129_*4130insTTTGGGATCTTCCCTCTTTTCTAATACAAACACA TAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCCCTCTTTTA TAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGGGAT CTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTA ACTGATTTGAGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGT TTCCTTCTAGGTAACTGGTTTGGGATCTTCCCTCTTTTCTAATACAAACA CATAAAGCTCTGTTTCCTTCTAGGTAACTGA	RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding		2711		chr20	TogoVar
RALGAPB_chr20_38467843_38583858	38482019	T T	TTCAAGTA others(308): Show TTCAAGTAACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp1 NA19043.hp2 HG02258.hp2 HG02486.hp1 NA19043.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0029 a0002c0004t0030 a0002c0004t0031 a0002c0004t0029 a0002c0004t0030 a0002c0004t0031	a0002c0004t0029g0008 a0002c0004t0030g0007 a0002c0004t0031g0009 a0002c0004t0029g0008 a0002c0004t0030g0007 a0002c0004t0031g0009	3	216	0.0139	315	c.-30 others(332): Show c.-30-6371_-30-6370insTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTCAAGTAACTTTT	RALGAPB	ENSG00000170471.15	transcript	ENST00000262879.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAPGEF2_chr4_159098079_159365173	159188084	A A	AGCAAGAA others(308): Show AGCAAGAATAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA19043.hp2 NA21309.hp2 HG02970.hp1 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0021 a0001c0001t0005 a0001c0001t0021	a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0021g0028 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0021g0028	3	194	0.0155	315	c.140 others(332): Show c.140+1387_140+1388insTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCGCAAGAATAATTTTT	RAPGEF2	ENSG00000109756.10	transcript	ENST00000691494.1	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr4	TogoVar
RAPGEF2_chr4_159098079_159365173	159310984	T T	TTCAATTT others(308): Show TTCAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCGC TCTGTCGACCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAGGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATTCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0104 a0001c0001t0027g0104	1	194	0.0052	315	c.676 others(332): Show c.676-3594_676-3593insTTTTTTTTTTTTTTTTTTTTTGAGGCGG AGTCTCGCTCTGTCGACCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCC AGGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATTCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTCAATTTTTTTTT	RAPGEF2	ENSG00000109756.10	transcript	ENST00000691494.1	protein_coding	8/29		INFO_REALIGN_3_PRIME	chr4	TogoVar
RASA3_chr13_113972783_114137623	114010799	C C	CGCGTGGG others(308): Show CGCGTGGGGAGGAGGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAG GAGGCGCCGTGTGGGGAGGAGGGGCCGCGTGGGGAGGAGGGGGGCCGCGT GGGGAGAGGGGCTCGGGGCCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGG AGGGGGCCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCCGCGT GGGGAGGAGGGGGGCCGCGAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGG GGGCCGCGTGGGGAGGAGGGGGGCCGCGAGGGGAGGAGGGGGCCTGTGTG TGGGGAGGAGAGGGCT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	67	0.0149	315	c.159 others(332): Show c.1590+371_1590+372insAGCCCTCTCCTCCCCACACACAGGCCCC CTCCTCCCCTCGCGGCCCCCCTCCTCCCCACGCGGCCCCCCTCCTCCCCA CGCGGCCCCCTCCTCCCCTCGCGGCCCCCCTCCTCCCCACGCGGCCCCCT CCTCCCCTCGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCG GCCCCCTCCTCCCCACGCGGCCCCGAGCCCCTCTCCCCACGCGGCCCCCC TCCTCCCCACGCGGCCCCTCCTCCCCACACGGCGCCTCCTCCCCACGCGG CCCCCTCCTCCCCACGCGGCCCCCCTCCTCCCCACGC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114043863	G G	GCCCCCCC others(308): Show GCCCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCCCCCGCCCCGCCT CACTCGCTGAGCCCCCCCCCCCGCCTCACTCGCTGAGCCCCCCCCCCCGC CCCGCCTCACTCGCTGAGCCCCCCCCCCCGCCTCACTCGCTGAGCCCCCC CGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCC CCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCG CTGAGCCCCCCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCGCCGCC TCACTCGCTGAGCCCC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	67	0.0149	315	c.278 others(332): Show c.278-2770_278-2769insGGGGCTCAGCGAGTGAGGCGGCGGGGGG AGCTCAGCGAGTGAGGCGGGGCGGGGGGGGGGGCTCAGCGAGTGAGGCGG GGCGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGGGGCTCAGCGAGT GAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGC GAGTGAGGCGGGGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGGGG GCTCAGCGAGTGAGGCGGGGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGG GGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114099909	A A	ACCCCACA others(308): Show ACCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCCAC AGCAGCCCCCCCACATCAGCCCCCCCACAGCCCCCCACAGCCCCCCCACA GCCCCCCCACAGCCCCCACATCAGCCCCCCCACAGCCCCCCACAGCCCCC CCACAGCCCCCCACATCAGCCCCCCCACAGCCCCCCACAGCCCCCCCACA GCCCCCCACATCAGCCCCCCCACAGCCCCCCCACAGCCCCCCACAGCCCC CCACAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCACA GCAGCCCCCCCACAGC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	67	0.0149	315	c.56- others(332): Show c.56-26073_56-26072insGCTGTGGGGGGGCTGCTGTGGGGGGCTG TGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGCTGTGGGG GGCTGTGGGGGGGCTGTGGGGGGGCTGATGTGGGGGGCTGTGGGGGGGCT GTGGGGGGCTGTGGGGGGGCTGATGTGGGGGGCTGTGGGGGGGCTGTGGG GGGCTGTGGGGGGGCTGATGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCT GTGGGGGGCTGTGGGGGGGCTGATGTGGGGGGGCTGCTGTGGGGGGCTGT GGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBFOX1_chr16_6014024_7718340	7176222	T T	TAATACTT others(308): Show TAATACTTGGTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGATC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	68	0.0147	315	c.27+ others(334): Show c.27+124127_27+124128insACTTGGTTCTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGATCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RERE_chr1_8347404_8822640	8386567	A A	AGAACTCT others(308): Show AGAACTCTTTTTTTTTTTTTTTTTTTTTTTCTTTGAGACGGAGTCTCGCT CTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0153 a0001c0001t0006g0153	1	204	0.0049	315	c.128 others(336): Show c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC TCCGTCTCAAAGAAAAAAAAAAAAAAAAAAAAAAAGAGTTC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8386567	A A	AGAACTCT others(308): Show AGAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0044 a0001c0007t0004g0044	1	204	0.0049	315	c.128 others(336): Show c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTTC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8441930	T T	TCAATACA others(308): Show TCAATACACACACTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTG AGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02683.hp1 HG01192.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0013 a0001c0001t0003g0141 a0001c0001t0001g0013 a0001c0001t0003g0141	2	204	0.0098	315	c.120 others(336): Show c.1204-19124_1204-19123insGCCGGGCGCGGTGGCTCACGCCTG TAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAGTGTGTGTATTG	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	11/22			chr1	TogoVar
RGPD5_chr2_109789305_109862705	109794573	A A	ACCCGGCC others(308): Show ACCCGGCCGGGGGGGGAGGGGGGGGGGCGGCGGCGGCGGCCTCGGCCCGG CCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCG GCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGG CCTCGGCCCCGGCCCGGCCGGGGGGGGGGCGGCGGCGGCGGCGGCCTCGG CCCCGGCCCGGCCGGGGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC CTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCG GCGGCGGCGGCCCCGG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0003 a0010c0019t0003	a0010c0019t0003g0012 a0010c0019t0003g0012	1	40	0.0250	315	c.72+ others(326): Show c.72+49_72+50insGGAGGGGGGGGGGCGGCGGCGGCGGCCTCGGCCC GGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGG CGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGC GGCCTCGGCCCCGGCCCGGCCGGGGGGGGGGCGGCGGCGGCGGCGGCCTC GGCCCCGGCCCGGCCGGGGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCG GCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGG CGGCGGCGGCGGCCCCGGCCCGGCCGGGGGG	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RIOK2_chr5_97155867_97188247	97179994	T T	TATATAAT others(308): Show TATATAATATAATATATATATAAAATATATATATATAATATATATATAAA AATATATATATATAATATATATATATAAAATATATATATATAATATATAT ATATAAAATATATATATAAAATATATATATATAATATATATATATAAAAT ATATATATAAAATATATATATATAATATATATATAAAATATATATATAAA ATATATATATATAATATATATATAAAATATATATATATTAATAATATATA TATATAAAATATATATAAAAATATATATATATATATATATAAAATATATA TATAATATATAATATA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0163 a0004c0005t0001g0163	1	410	0.0024	315	c.67- others(328): Show c.67-802_67-801insTATATTATATATTATATATATATTTTATATAT ATATATATATATATTTTTATATATATTTTATATATATATATTATTAATAT ATATATATTTTATATATATATTATATATATATATTTTATATATATATTTT ATATATATATTATATATATATATTTTATATATATATTTTATATATATATA TTATATATATATATTTTATATATATATTTTATATATATATATTATATATA TATATTTTATATATATATATTATATATATATATTTTTATATATATATTAT ATATATATATTTTATATATATATTATATTATAT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIPOR2_chr6_24799284_24940960	24927257	C C	CCACCACT others(308): Show CCACCACTACAGCTACAATCACCACCACCATCACCACCACCACCACAACT ACAATCACCACCACCACCACTACAACTACAGTTACCACCACCATCACCAC CACCACCACCACAACTACAATCACCACCACCACCACTACCACCAGCACCA CCACAACTACAATCACCACCACCACCACCACTACAGCTACAATCACCACC ACCATCACCACCACCACCACAACTACAATCACCACCACCACCACTACAAC TACAGTTACCACCACCATCACCACCACCACCACAACTACAATCACCACCA CCACCACTACCACCAG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0053 a0001c0004t0006g0053	1	328	0.0031	315	c.61+ others(330): Show c.61+8580_61+8581insCTGGTGGTAGTGGTGGTGGTGGTGATTGTA GTTGTGGTGGTGGTGGTGATGGTGGTGGTAACTGTAGTTGTAGTGGTGGT GGTGGTGATTGTAGTTGTGGTGGTGGTGGTGATGGTGGTGGTGATTGTAG CTGTAGTGGTGGTGGTGGTGGTGATTGTAGTTGTGGTGGTGCTGGTGGTA GTGGTGGTGGTGGTGATTGTAGTTGTGGTGGTGGTGGTGGTGATGGTGGT GGTAACTGTAGTTGTAGTGGTGGTGGTGGTGATTGTAGTTGTGGTGGTGG TGGTGATGGTGGTGGTGATTGTAGCTGTAGTGGTG	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21			chr6	TogoVar
RIPOR3_chr20_50581108_50696542	50685662	T T	TAAAAATA others(308): Show TAAAAATACAGAAATCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTA GCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCTTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGTTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCACTCCAACCTGGGAGACACAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02486.hp1 HG02897.hp1 others(4): Show HG01516.hp2 HG02486.hp1 HG02897.hp1 NA18946.hp1 NA18962.hp2 NA18971.hp2 NA19055.hp2	a0001 a0017 a0001 a0017	a0001c0001 a0001c0028 a0017c0014 a0001c0001 a0001c0028 a0017c0014	a0001c0001t0001 a0001c0001t0002 a0001c0028t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0028t0002 a0017c0014t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0070 others(4): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0002g0041 a0001c0028t0002g0087 a0017c0014t0001g0077	7	280	0.0250	315	c.3+5 others(328): Show c.3+5463_3+5464insTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TGTGTCTCCCAGGTTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCAACACGCCCGGCTAATTTTTTGTATTTTTA GTAGAAACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTG AGCCACCGCGCCCGGCCTGATTTCTGTATTTTT	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RMND1_chr6_151399762_151457126	151430881	T T	TATTAATG others(308): Show TATTAATGGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG01884.hp2 HG02258.hp1	a0003 a0004 a0003 a0004	a0003c0013 a0004c0009 a0003c0013 a0004c0009	a0003c0013t0001 a0004c0009t0015 a0003c0013t0001 a0004c0009t0015	a0003c0013t0001g0323 a0004c0009t0015g0371 a0003c0013t0001g0323 a0004c0009t0015g0371	2	392	0.0051	315	c.690 others(330): Show c.690-705_690-704insTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCGCCATTAAT	RMND1	ENSG00000155906.20	transcript	ENST00000444024.3	protein_coding	4/11			chr6	TogoVar
RNF17_chr13_24759169_24884921	24882005	G G	GATACATC others(308): Show GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	426	0.0024	315	c.22 others(326): Show c.2279_*2280insATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTA TATATAGATACATCTATATATAGATACATCT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2085		chr13	TogoVar
RNF214_chr11_117227671_117291454	117244635	T T	TCAAACTT others(308): Show TCAAACTTTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG GTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCT CCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGAAGCT GGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03139.hp1 NA20129.hp1 HG02976.hp2 HG03139.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0001 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0082 a0001c0001t0005g0080 a0001c0001t0008g0079 a0001c0001t0001g0082 a0001c0001t0005g0080 a0001c0001t0008g0079	3	360	0.0083	315	c.819 others(328): Show c.819+66_819+67insTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GGTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGC TCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGAAGC TGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCCAAACTTTAATTTTTT	RNF214	ENSG00000167257.11	transcript	ENST00000300650.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
ROBO2_chr3_77035099_77654964	77290723	G G	GTTAAACG others(308): Show GTTAAACGGGTAGGCTGAGGCTAGATCATCCCAGACATAAAGTAAAATTG ATGGTTAAAAGGGTAGGCTGAGGCTAGATCACCCCAGACATAAAGTAAAA TTGATGGTTAAACAGGAAGGTGAGGCTAGAGCAGTAAGACATAAAGTAAA ATTGACGGTTAAACGGGTAAGCTGAGGCTAGATCACCCCAGACATAAAGT AAAATTGATGGTTAAATGGGTAAGCTGAGGCTAGATCACTAAAGACATAA AGTAAAATTGACAGTTAAACGGGTAAGCTGAGGCTAGATCACCCAGACAT AAAGTAAAATTGAAGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	160	0.0063	315	c.389 others(336): Show c.389-186682_389-186681insTAGGCTGAGGCTAGATCATCCCAG ACATAAAGTAAAATTGATGGTTAAAAGGGTAGGCTGAGGCTAGATCACCC CAGACATAAAGTAAAATTGATGGTTAAACAGGAAGGTGAGGCTAGAGCAG TAAGACATAAAGTAAAATTGACGGTTAAACGGGTAAGCTGAGGCTAGATC ACCCCAGACATAAAGTAAAATTGATGGTTAAATGGGTAAGCTGAGGCTAG ATCACTAAAGACATAAAGTAAAATTGACAGTTAAACGGGTAAGCTGAGGC TAGATCACCCAGACATAAAGTAAAATTGAAGATTAAACGGG	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77293391	C C	CAGACATA others(308): Show CAGACATAAAGTAAAATTGATGGTTAAACGGGAAGTTGAGGCTAGAACAG TAAAGACATAAAGTAGAATTGATGGTTAAACGGGTAGGCTGAGGCTAGAT CACCCCAGATGTAAAGTAAAATTGACGGCTAAACGAGTAAGCTGCAGCTA GATCACCCCAGACATAAAGTAAAATTGATGGTTAAACGGGTAAGCTGAGG CTAGATCACCCCAGACATAAAGTAAAATTGACAGTTAAACGGGTACACTG AGGCTAGATCACCCAGACATAAAGTAAAATTGAAGATTAAATGGGAAGTT AAGGCTAGAACAGTAA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	160	0.0063	315	c.389 others(336): Show c.389-183992_389-183991insAAGTTGAGGCTAGAACAGTAAAGA CATAAAGTAGAATTGATGGTTAAACGGGTAGGCTGAGGCTAGATCACCCC AGATGTAAAGTAAAATTGACGGCTAAACGAGTAAGCTGCAGCTAGATCAC CCCAGACATAAAGTAAAATTGATGGTTAAACGGGTAAGCTGAGGCTAGAT CACCCCAGACATAAAGTAAAATTGACAGTTAAACGGGTACACTGAGGCTA GATCACCCAGACATAAAGTAAAATTGAAGATTAAATGGGAAGTTAAGGCT AGAACAGTAAAGACATAAAGTAAAATTGATGGTTAAACGGG	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77293391	C C	CAGACATA others(308): Show CAGACATAAAGTAAAATTGATGGTTAAACGGGAAGTTGAGGCTAGAACAG TAAAGACATAAAGTAGAATTGATGGTTAAACGGGTAGGCTGAGGCTAGAT CACCCCAGATGTAAAGTAAAATTGACGGCTAAACGAGTAAGCTGCAGCTA GATCACCCCAGACATAAAGTAAAATTGATGGTTAAACGGGTAAGCTGAGG CTAGATCACCCCAGACATAAAGTAAAATTGACGGTTAAACGGGTACACTG AGGCTAGATCACCCAGACATAAAGTAAAATTGAAGATTAAATGGGAAGTT AAGGCTAGAACAGTAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00642.hp2 others(40): Show HG00140.hp1 HG00280.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01361.hp2 HG01516.hp2 HG01978.hp1 HG02056.hp2 HG02083.hp1 HG02717.hp1 HG02738.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04228.hp1 NA18945.hp1 NA18945.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18970.hp2 NA18973.hp2 NA18986.hp2 NA19006.hp1 NA19006.hp2 NA19012.hp2 NA19062.hp2 NA19070.hp1 NA19077.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0035 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0035 others(40): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0118 a0001c0001t0001g0160 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0076 a0001c0001t0002g0091 a0001c0001t0002g0097 a0001c0001t0002g0107 a0001c0001t0003g0068 a0001c0001t0003g0132 a0001c0001t0003g0140 a0001c0001t0004g0024 a0001c0001t0004g0150 a0001c0001t0005g0043 a0001c0001t0006g0019 a0001c0001t0006g0022 a0001c0001t0006g0023 a0001c0001t0006g0025 a0001c0001t0006g0030 a0001c0001t0008g0032 a0001c0001t0008g0135 a0001c0001t0009g0090 a0001c0001t0010g0037 a0001c0001t0010g0110 a0001c0001t0010g0144 a0001c0001t0035g0041 a0001c0001t0042g0149 a0001c0001t0044g0062 a0001c0001t0045g0072 a0001c0001t0046g0004 a0001c0001t0047g0026	43	160	0.2688	315	c.389 others(336): Show c.389-183992_389-183991insAAGTTGAGGCTAGAACAGTAAAGA CATAAAGTAGAATTGATGGTTAAACGGGTAGGCTGAGGCTAGATCACCCC AGATGTAAAGTAAAATTGACGGCTAAACGAGTAAGCTGCAGCTAGATCAC CCCAGACATAAAGTAAAATTGATGGTTAAACGGGTAAGCTGAGGCTAGAT CACCCCAGACATAAAGTAAAATTGACGGTTAAACGGGTACACTGAGGCTA GATCACCCAGACATAAAGTAAAATTGAAGATTAAATGGGAAGTTAAGGCT AGAACAGTAAAGACATAAAGTAAAATTGATGGTTAAACGGG	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK2_chr2_11174759_11349636	11286234	T T	TTAAGCAG others(308): Show TTAAGCAGATGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02074.hp2 HG00323.hp1 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0010 a0001c0001t0008 a0001c0001t0010	a0001c0001t0008g0135 a0001c0001t0010g0155 a0001c0001t0008g0135 a0001c0001t0010g0155	2	320	0.0063	315	c.324 others(330): Show c.324+304_324+305insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAACATCTGCTTA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	3/32			chr2	TogoVar
RPA3_chr7_7631518_7723607	7678973	T T	TTTAGTTT others(308): Show TTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTA TTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTATTTA GTTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTA GTTTATAAATATATATTTATTTAGTTTATAAATATTTACATATTTAGTTT ATAAATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAA ATACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTT ATAAATACATATTTAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0298 a0001c0001t0015g0298	1	308	0.0033	315	c.-75 others(334): Show c.-758+6856_-758+6857insGTAAATATGTATTTATAAACTAAATA TGTAAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTA AATATGTAAATATTTATAAACTAAATATGTAAATATTTATAAACTAAATA TGTAAATATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTA AATATATATTTATAAACTAAATAAATATATATTTATAAACTAAATAAATA TATATTTATAAACTAAATAAATATATATTTATAAACTAAATAAATATATA TTTATAAACTAAATATATAAATATATATTTATAAACTAA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPS7_chr2_3570260_3585920	3582716	G G	GAAAAGAA others(308): Show GAAAAGAAGAAACTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	430	0.0023	315	c.18 others(326): Show c.1834_*1835insAAAAGAAGAAACTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCC	RPS7	ENSG00000171863.15	transcript	ENST00000645674.2	protein_coding		1797		chr2	TogoVar
RPS7_chr2_3570260_3585920	3582716	G G	GAAAAGAA others(308): Show GAAAAGAAGAAACTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(116): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02040.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02647.hp1 HG02723.hp1 HG02735.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18980.hp1 NA18985.hp2 NA18987.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA18995.hp1 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19010.hp1 NA19043.hp2 NA19056.hp2 NA19060.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp2 NA19086.hp1 NA19089.hp2 NA19090.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0003g0001	119	430	0.2767	315	c.18 others(326): Show c.1834_*1835insAAAAGAAGAAACTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCC	RPS7	ENSG00000171863.15	transcript	ENST00000645674.2	protein_coding		1797		chr2	TogoVar
RPS7_chr2_3570260_3585920	3582716	G G	GAAAAGAA others(308): Show GAAAAGAAGAAACTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG02698.hp1 HG00438.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	2	430	0.0047	315	c.18 others(326): Show c.1834_*1835insAAAAGAAGAAACTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCC	RPS7	ENSG00000171863.15	transcript	ENST00000645674.2	protein_coding		1797		chr2	TogoVar
RPS7_chr2_3570260_3585920	3582716	G G	GAAAAGAA others(308): Show GAAAAGAAGAAACTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02615.hp1 HG02630.hp1 others(8): Show HG02451.hp1 HG02615.hp1 HG02630.hp1 HG02723.hp2 HG02976.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG06807.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0043 a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0043	11	430	0.0256	315	c.18 others(326): Show c.1834_*1835insAAAAGAAGAAACTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCC	RPS7	ENSG00000171863.15	transcript	ENST00000645674.2	protein_coding		1797		chr2	TogoVar
RPSA2_chr19_23758004_23833868	23768605	T T	TTGAGAAA others(308): Show TTGAGAAAGAGTCTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACC ATCCCGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18906.hp2 HG02976.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0035 a0001c0001t0008 a0001c0001t0035	a0001c0001t0008g0111 a0001c0001t0035g0112 a0001c0001t0008g0111 a0001c0001t0035g0112	2	366	0.0055	315	c.-30 others(334): Show c.-303+5471_-303+5472insTGAGAAAGAGTCTCAGGCCGGGCGCG GTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATTGAGACCATCCCGGCTAAAACGGTGAAACCCTGT CTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGTTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding	1/3			chr19	TogoVar
RSRC1_chr3_158105089_158550730	158245131	T T	TGTTTCTG others(308): Show TGTTTCTGGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCTGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03688.hp1 HG04199.hp1 HG02683.hp2 HG03688.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0241 a0001c0001t0002g0245 a0001c0001t0002g0246	3	276	0.0109	315	c.494 others(334): Show c.494+41895_494+41896insCTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCTGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCGTTTCTGGC	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSU1_chr10_16585611_16822424	16748873	T T	TCCCAGAG others(308): Show TCCCAGAGCTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCT CCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCT GGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACAGGGTTTCACCGTGTTAGCCAGGAGGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0157 a0001c0001t0052g0157	1	190	0.0053	315	c.598 others(332): Show c.598+3665_598+3666insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCCTCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCCGGA GGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGA GCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAGAGCTCTGGG	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	7/8			chr10	TogoVar
RTL4_chrX_112078016_112462514	112130967	T T	TTGTATTT others(308): Show TTGTATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02257.hp1 HG03225.hp1 HG02257.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0007 a0001c0002t0002 a0001c0002t0007	a0001c0002t0002g0035 a0001c0002t0007g0128 a0001c0002t0002g0035 a0001c0002t0007g0128	2	134	0.0149	315	c.-56 others(328): Show c.-563-3_-563-2insTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTGTATTTTTTTTT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar

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