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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RBM48_chr7_92523795_92545481	92544408	T T	TTTTATTT others(12): Show TTTTATTTTTTTTTTTTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0045 a0001c0001t0004g0045	1	394	0.0025	19	c.74 others(30): Show c.7471_*7472insTTTATTTTTTTTTTTTTTA		RBM48	ENSG00000127993.16	transcript	ENST00000265732.10	protein_coding					3928		chr7	TogoVar
RBMS1_chr2_160267151_160498807	160426290	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18968.hp2 HG03927.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0207 a0001c0001t0002g0126 a0001c0001t0002g0207	2	244	0.0082	19	c.76- others(36): Show c.76-58900_76-58899insCTTTCTTTCTTTCTTTCTT		RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13						chr2	TogoVar
RBMS1_chr2_160267151_160498807	160426291	A A	AAGAAAGA others(12): Show AAGAAAGAAAGAAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0215 a0001c0002t0001g0215	1	320	0.0031	19	c.76- others(36): Show c.76-58901_76-58900insCTTTCTTTTCTTTCTTTCT		RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13						chr2	TogoVar
RBMS2_chr12_56516820_56601193	56521502	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0083 a0001c0002t0083	a0001c0002t0083g0107 a0001c0002t0083g0107	1	112	0.0089	19	c.-52 others(28): Show c.-522_-521insTTTTTTTTTTTTTTTTTTT		RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding					317		chr12	TogoVar
RBMS3_chr3_29276071_30015386	29280363	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01515.hp1 HG01517.hp1 HG00639.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0057 a0001c0001t0019g0054 a0001c0001t0019g0055 a0001c0001t0002g0057 a0001c0001t0019g0054 a0001c0001t0019g0055	3	42	0.0714	19	c.-13 others(30): Show c.-1319_-1318insTTTTTTTTTTTTTTTTTTT		RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding					707		chr3	TogoVar
RBMS3_chr3_29276071_30015386	29535710	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03579.hp1 HG02257.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0056 a0001c0001t0014 a0001c0001t0056	a0001c0001t0014g0073 a0001c0001t0056g0024 a0001c0001t0014g0073 a0001c0001t0056g0024	2	12	0.1667	19	c.307 others(38): Show c.307+47224_307+47242dupTTTTTTTTTTTTTTTTTTT		RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29578790	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18994.hp1 HG03041.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0076 a0001c0001t0025 a0001c0001t0076	a0001c0001t0025g0009 a0001c0001t0076g0087 a0001c0001t0025g0009 a0001c0001t0076g0087	2	75	0.0267	19	c.308 others(36): Show c.308-8320_308-8302dupTTTTTTTTTTTTTTTTTTT		RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29691947	C C	CTCTCTCT others(12): Show CTCTCTCTCTATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG02559.hp2 others(5): Show HG01891.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02922.hp2 HG03130.hp1 HG03225.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0021 others(3): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0021 a0001c0001t0033 a0001c0001t0036 a0001c0001t0056	a0001c0001t0003g0025 a0001c0001t0003g0065 a0001c0001t0003g0089 others(5): Show a0001c0001t0003g0025 a0001c0001t0003g0065 a0001c0001t0003g0089 a0001c0001t0011g0033 a0001c0001t0021g0108 a0001c0001t0033g0042 a0001c0001t0036g0047 a0001c0001t0056g0024	8	52	0.1538	19	c.400 others(38): Show c.400-47772_400-47771insCTCTCTCTATTTTTTTTTT		RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29820188	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0066 a0001c0001t0078g0066	1	24	0.0417	19	c.638 others(38): Show c.638-48634_638-48616dupAAAAAAAAAAAAAAAAAAA		RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29853423	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0042 a0001c0001t0033g0042	1	10	0.1000	19	c.638 others(38): Show c.638-15431_638-15413dupTTTTTTTTTTTTTTTTTTT		RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMXL1_chr1_88974456_88997629	88987600	A A	ATATGCAC others(12): Show ATATGCACACTACCCAGATT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	424	0.0024	19	c.-24 others(36): Show c.-241+633_-241+651dupAATCTGGGTAGTGTGCATA		RBMXL1	ENSG00000213516.10	transcript	ENST00000652648.1	protein_coding	2/2						chr1	TogoVar
RBMXL3_chrX_115184410_115197868	115197847	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0001 a0002c0034t0001	a0002c0034t0001g0000 a0002c0034t0001g0000	1	68	0.0147	19	c.52 others(30): Show c.5202_*5203insCTCTCTCTCTCTCTCCACA		RBMXL3	ENSG00000175718.10	transcript	ENST00000424776.5	protein_coding					4980		chrX	TogoVar
RBP4_chr10_93586694_93606235	93599315	A A	ACACAACT others(12): Show ACACAACTTTAGAGGAAGTC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	422	0.0024	19	c.355 others(36): Show c.355+1059_355+1077dupGACTTCCTCTAAAGTTGTG		RBP4	ENSG00000138207.15	transcript	ENST00000371464.8	protein_coding	4/5						chr10	TogoVar
RBP7_chr1_9992228_10021021	9998424	T T	TTTGAGAC others(12): Show TTTGAGACGGAGTCTCGCTC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	374	0.0027	19	c.73+ others(34): Show c.73+1094_73+1095insTGAGACGGAGTCTCGCTCT		RBP7	ENSG00000162444.12	transcript	ENST00000294435.8	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr1	TogoVar
RBPJL_chr20_45301840_45322824	45305805	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(20): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00733.hp1 HG00738.hp1 HG01074.hp2 HG01081.hp1 HG01175.hp2 HG01257.hp2 HG03486.hp1 HG04204.hp1 NA18947.hp2 NA18948.hp2 NA18954.hp1 NA18955.hp2 NA18960.hp1 NA19000.hp1 NA19009.hp2 NA19083.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0012 a0001c0001 a0010c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0010c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0042 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0042 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0002g0095 a0001c0001t0003g0001 a0001c0001t0003g0020 a0001c0001t0006g0001 a0001c0001t0008g0093 a0010c0012t0001g0001	23	32	0.7188	19	c.-11 others(30): Show c.-1118_-1117insTTTTTTTTTTTTTTTTTTT		RBPJL	ENSG00000124232.11	transcript	ENST00000343694.8	protein_coding					1034		chr20	TogoVar
RBPMS_chr8_30379541_30577256	30419450	A A	ATTGTGTG others(12): Show ATTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01099.hp2 HG01515.hp2 others(6): Show HG01070.hp2 HG01099.hp2 HG01515.hp2 HG03491.hp2 HG03704.hp1 HG03927.hp2 NA18946.hp1 NA19081.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0024	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0022 others(6): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0002g0281 a0001c0001t0004g0023 a0001c0001t0004g0263 a0001c0001t0024g0012	9	59	0.1525	19	c.66+ others(36): Show c.66+34293_66+34294insTGTGTGTGTGTGTGTGTGT		RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30518687	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0174	1	16	0.0625	19	c.397 others(38): Show c.397+14261_397+14279dupTTTTTTTTTTTTTTTTTTT		RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30549772	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	196	0.0051	19	c.528 others(36): Show c.528+5148_528+5149insCTCTCTCTCTCTCTCTCTC		RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	6/8						chr8	TogoVar
RC3H1_chr1_173926084_174027357	173929805	T T	TTTATTTA others(12): Show TTTATTTATTTATTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01261.hp2 HG01516.hp1 others(2): Show HG01074.hp2 HG01261.hp2 HG01516.hp1 HG01517.hp1 HG03688.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0017 a0002c0003t0030 a0002c0003t0017 a0002c0003t0030	a0002c0003t0017g0101 a0002c0003t0017g0105 a0002c0003t0017g0106 others(2): Show a0002c0003t0017g0101 a0002c0003t0017g0105 a0002c0003t0017g0106 a0002c0003t0030g0102 a0002c0003t0030g0103	5	308	0.0162	19	c.89 others(30): Show c.8915_*8916insTAAATAAATAAATAAATAA		RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding					1278		chr1	TogoVar
RC3H1_chr1_173926084_174027357	173929831	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG04199.hp1 NA18955.hp1 others(1): Show HG02015.hp1 HG04199.hp1 NA18955.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0016 a0001c0001t0003 a0001c0001t0011 a0001c0001t0016	a0001c0001t0003g0008 a0001c0001t0003g0033 a0001c0001t0011g0029 others(1): Show a0001c0001t0003g0008 a0001c0001t0003g0033 a0001c0001t0011g0029 a0001c0001t0016g0013	4	255	0.0157	19	c.88 others(30): Show c.8889_*8890insTAAAAAAAAAAAAAAAAAA		RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding					1252		chr1	TogoVar
RC3H1_chr1_173926084_174027357	173942428	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01884.hp2 HG02896.hp1 others(1): Show HG01081.hp2 HG01884.hp2 HG02896.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0057 a0001c0002t0072 others(1): Show a0001c0001t0006 a0001c0001t0057 a0001c0002t0072 a0001c0002t0077	a0001c0001t0006g0291 a0001c0001t0057g0280 a0001c0002t0072g0218 others(1): Show a0001c0001t0006g0291 a0001c0001t0057g0280 a0001c0002t0072g0218 a0001c0002t0077g0211	4	112	0.0357	19	c.313 others(37): Show c.3135+995_3135+1013dupTTTTTTTTTTTTTTTTTTT		RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	18/19						chr1	TogoVar
RC3H1_chr1_173926084_174027357	173950420	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03491.hp2 HG03492.hp2 others(1): Show HG02056.hp2 HG03491.hp2 HG03492.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0034 a0001c0001t0036 others(1): Show a0001c0001t0003 a0001c0001t0034 a0001c0001t0036 a0001c0001t0089	a0001c0001t0003g0016 a0001c0001t0034g0040 a0001c0001t0036g0034 others(1): Show a0001c0001t0003g0016 a0001c0001t0034g0040 a0001c0001t0036g0034 a0001c0001t0089g0022	4	180	0.0222	19	c.252 others(38): Show c.2523+1547_2523+1565dupTTTTTTTTTTTTTTTTTTT		RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	14/19						chr1	TogoVar
RC3H1_chr1_173926084_174027357	174017783	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0291 a0001c0001t0006g0291	1	59	0.0169	19	c.-15 others(38): Show c.-151+4294_-151+4312dupTTTTTTTTTTTTTTTTTTT		RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	1/19						chr1	TogoVar
RCBTB1_chr13_49526946_49590558	49564583	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03130.hp2 HG03492.hp2 HG02896.hp2 HG03130.hp2 HG03492.hp2	a0002 a0002	a0002c0007 a0002c0010 a0002c0007 a0002c0010	a0002c0007t0003 a0002c0007t0006 a0002c0010t0002 a0002c0007t0003 a0002c0007t0006 a0002c0010t0002	a0002c0007t0003g0147 a0002c0007t0006g0146 a0002c0010t0002g0255 a0002c0007t0003g0147 a0002c0007t0006g0146 a0002c0010t0002g0255	3	157	0.0191	19	c.277 others(36): Show c.277+2016_277+2034dupTTTTTTTTTTTTTTTTTTT		RCBTB1	ENSG00000136144.12	transcript	ENST00000378302.7	protein_coding	4/12						chr13	TogoVar
RCC1L_chr7_75037183_75078802	75072182	A A	ATATATAT others(12): Show ATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0025 a0002c0002t0002g0025	1	268	0.0037	19	c.324 others(36): Show c.324+1231_324+1232insCTATATATATATATATATA		RCC1L	ENSG00000274523.5	transcript	ENST00000610322.5	protein_coding	1/10						chr7	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0240 a0001c0003t0002g0240	1	119	0.0084	19	c.52 others(30): Show c.5232_*5233insAAAAAAAAAATATATATAT		RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding					4251		chr1	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	119	0.0084	19	c.52 others(30): Show c.5232_*5233insAAAAAAAATATATATATAT		RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding					4251		chr1	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	119	0.0084	19	c.52 others(30): Show c.5232_*5233insAAAAAATATATATATATAT		RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding					4251		chr1	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	119	0.0084	19	c.52 others(30): Show c.5232_*5233insAAAATATATATATATATAT		RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding					4251		chr1	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAATATAT others(12): Show AAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA20300.hp1 NA20805.hp1 NA18967.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0031 a0001c0002t0001g0196 a0001c0002t0001g0001 a0001c0002t0001g0031 a0001c0002t0001g0196	3	121	0.0248	19	c.52 others(30): Show c.5232_*5233insAATATATATATATATATAT		RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding					4251		chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG02280.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0017 a0001c0001t0006 a0001c0001t0017	a0001c0001t0006g0314 a0001c0001t0017g0313 a0001c0001t0006g0314 a0001c0001t0017g0313	2	145	0.0138	19	c.286 others(36): Show c.286-2161_286-2160insATATATATATATATATATT		RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12						chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	ATAAAAAT others(12): Show ATAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	144	0.0069	19	c.286 others(36): Show c.286-2161_286-2160insATATATATATATATTTTTA		RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12						chr1	TogoVar
RCHY1_chr4_75474033_75519403	75487528	A A	AATATATA others(12): Show AATATATATATTCATAATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0053	1	396	0.0025	19	c.657 others(36): Show c.657+3052_657+3053insATATTATGAATATATATAT		RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8						chr4	TogoVar
RCSD1_chr1_167625232_167713696	167627369	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 NA19030.hp1 HG02717.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0035 a0001c0001t0009g0128 a0001c0001t0001g0035 a0001c0001t0009g0128	2	163	0.0123	19	c.-30 others(30): Show c.-3055_-3054insTTTTTTTTTTTTTTTTTTT		RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding					2862		chr1	TogoVar
RCSD1_chr1_167625232_167713696	167630721	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19030.hp1 HG02280.hp1 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0025 a0001c0001t0001 a0003c0004t0025	a0001c0001t0001g0035 a0003c0004t0025g0034 a0001c0001t0001g0035 a0003c0004t0025g0034	2	17	0.1176	19	c.6+3 others(30): Show c.6+306_6+324dupAAAAAAAAAAAAAAAAAAA		RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
RDH10_chr8_73289602_73330281	73325702	G G	GCTGATCC others(12): Show GCTGATCCCCTAAGGAGCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	394	0.0025	19	c.26 others(30): Show c.2666_*2667insCTGATCCCCTAAGGAGCAC		RDH10	ENSG00000121039.10	transcript	ENST00000240285.10	protein_coding					422		chr8	TogoVar
RDX_chr11_110224441_110301614	110289956	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA18956.hp1 NA18972.hp1 others(3): Show HG02293.hp1 NA18956.hp1 NA18972.hp1 NA19011.hp1 NA19067.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 a0001c0001t0001 a0001c0001t0003 a0001c0001t0019	a0001c0001t0001g0191 a0001c0001t0003g0110 a0001c0001t0003g0214 others(3): Show a0001c0001t0001g0191 a0001c0001t0003g0110 a0001c0001t0003g0214 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0019g0215	6	98	0.0612	19	c.-65 others(36): Show c.-65+6492_-65+6510dupTTTTTTTTTTTTTTTTTTT		RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	1/13						chr11	TogoVar
RDX_chr11_110224441_110301614	110297640	T T	TTTGCAAT others(12): Show TTTGCAATACTTTTTTTAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	374	0.0027	19	c.-12 others(30): Show c.-1239_-1238insGCTAAAAAAAGTATTGCAA		RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding					1027		chr11	TogoVar
REC114_chr15_73438164_73565013	73462884	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	125	0.0080	19	c.160 others(38): Show c.160-10943_160-10925dupAAAAAAAAAAAAAAAAAAA		REC114	ENSG00000183324.11	transcript	ENST00000331090.11	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr15	TogoVar
RECK_chr9_36031913_36129455	36048147	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	390	0.0026	19	c.101 others(36): Show c.101-4105_101-4104insATATATTATATATATATAT		RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr9	TogoVar
RECQL4_chr8_144506288_144522833	144508440	G G	GGAACCCT others(12): Show GGAACCCTTAAGAAACGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0001 a0002c0020t0001	a0002c0020t0001g0190 a0002c0020t0001g0190	1	410	0.0024	19	c.29 others(30): Show c.2990_*2991insGTCCGTTTCTTAAGGGTTC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding					2847		chr8	TogoVar
REEP3_chr10_63516401_63630128	63533710	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02257.hp2 HG03195.hp1 others(2): Show HG02155.hp1 HG02257.hp2 HG03195.hp1 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0029 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0029 a0001c0001t0065 a0001c0001t0069	a0001c0001t0001g0129 a0001c0001t0005g0130 a0001c0001t0029g0202 others(2): Show a0001c0001t0001g0129 a0001c0001t0005g0130 a0001c0001t0029g0202 a0001c0001t0065g0201 a0001c0001t0069g0200	5	153	0.0327	19	c.32+ others(36): Show c.32+12148_32+12149insTTTTTTTTTTTTTTTTTTT		REEP3	ENSG00000165476.14	transcript	ENST00000373758.5	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
REEP3_chr10_63516401_63630128	63620585	G G	GATTAATG others(12): Show GATTAATGTTTTTATGTAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00544.hp2 others(39): Show HG00099.hp1 HG00140.hp2 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00733.hp1 HG00735.hp2 HG01070.hp2 HG01109.hp2 HG01884.hp1 HG01891.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02165.hp1 HG03453.hp1 HG03831.hp2 HG06807.hp2 NA18906.hp2 NA18946.hp1 NA18947.hp1 NA18953.hp1 NA18962.hp1 NA18977.hp1 NA18977.hp2 NA18981.hp2 NA18985.hp1 NA18987.hp2 NA18993.hp2 NA19001.hp2 NA19002.hp2 NA19006.hp1 NA19030.hp1 NA19060.hp2 NA19067.hp2 NA19068.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19086.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 others(7): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0015 a0001c0001t0023 a0001c0001t0039 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0051	a0001c0001t0004g0006 a0001c0001t0004g0042 a0001c0001t0004g0150 others(38): Show a0001c0001t0004g0006 a0001c0001t0004g0042 a0001c0001t0004g0150 a0001c0001t0004g0233 a0001c0001t0004g0235 a0001c0001t0004g0237 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0251 a0001c0001t0004g0257 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0265 a0001c0001t0006g0031 a0001c0001t0006g0062 a0001c0001t0006g0234 a0001c0001t0006g0242 a0001c0001t0006g0250 a0001c0001t0006g0254 a0001c0001t0006g0264 a0001c0001t0006g0266 a0001c0001t0008g0020 a0001c0001t0008g0095 a0001c0001t0008g0109 a0001c0001t0008g0110 a0001c0001t0008g0111 a0001c0001t0008g0112 a0001c0001t0008g0117 a0001c0001t0015g0068 a0001c0001t0015g0247 a0001c0001t0015g0253 a0001c0001t0023g0091 a0001c0001t0023g0106 a0001c0001t0039g0080 a0001c0001t0042g0082 a0001c0001t0043g0259 a0001c0001t0044g0248 a0001c0001t0051g0228	42	282	0.1489	19	c.712 others(34): Show c.712-212_712-211insAACATTAATGTTTTTATGT		REEP3	ENSG00000165476.14	transcript	ENST00000373758.5	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
RELL1_chr4_37605634_37691376	37671723	G G	GCTATGCC others(12): Show GCTATGCCCCGAGCAGCCAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02071.hp1 HG02129.hp2 others(2): Show HG02040.hp1 HG02071.hp1 HG02129.hp2 HG02738.hp2 NA18988.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0005c0009t0002	a0001c0001t0001g0316 a0001c0001t0002g0314 a0001c0001t0002g0315 others(2): Show a0001c0001t0001g0316 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0003g0313 a0005c0009t0002g0319	5	322	0.0155	19	c.88+ others(36): Show c.88+14476_88+14477insGTGGCTGCTCGGGGCATAG		RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding	1/6						chr4	TogoVar
RELN_chr7_103466789_103994658	103494365	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0002 a0006c0013t0002	a0006c0013t0002g0023 a0006c0013t0002g0023	1	92	0.0109	19	c.936 others(38): Show c.9369+1357_9369+1358insCACACACACACACACACAC		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	57/64						chr7	TogoVar
RELN_chr7_103466789_103994658	103518505	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00738.hp2 HG02071.hp2 others(3): Show HG00438.hp1 HG00738.hp2 HG02071.hp2 HG02723.hp1 NA18979.hp1 NA19088.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0005 a0001c0022 others(2): Show a0001c0002 a0001c0005 a0001c0022 a0001c0038 a0004c0062	a0001c0002t0001 a0001c0005t0001 a0001c0022t0001 others(2): Show a0001c0002t0001 a0001c0005t0001 a0001c0022t0001 a0001c0038t0001 a0004c0062t0002	a0001c0002t0001g0041 a0001c0002t0001g0086 a0001c0005t0001g0044 others(3): Show a0001c0002t0001g0041 a0001c0002t0001g0086 a0001c0005t0001g0044 a0001c0022t0001g0062 a0001c0038t0001g0075 a0004c0062t0002g0004	6	64	0.0938	19	c.786 others(36): Show c.7862+817_7862+818insAAAAAAAAAAAAAAAAAAA		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	49/64						chr7	TogoVar
RELN_chr7_103466789_103994658	103962646	T T	TTGTTGTG others(12): Show TTGTTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0177 a0001c0002t0011g0177	1	44	0.0227	19	c.226 others(38): Show c.226+26484_226+26485insCACACACACACACACAACA		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	1/64						chr7	TogoVar
REM2_chr14_22878222_22892678	22888998	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01106.hp1 HG01943.hp1 others(8): Show HG00423.hp2 HG01106.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG02071.hp1 HG02683.hp1 HG03017.hp1 HG03927.hp1 HG04115.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0001t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0031 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0003g0001 a0001c0003t0001g0001	11	60	0.1833	19	c.20 others(30): Show c.2089_*2090insAAAAAAAAAAAAAAAAAAA		REM2	ENSG00000139890.10	transcript	ENST00000267396.9	protein_coding					1321		chr14	TogoVar
REN_chr1_204149819_204171337	204156794	T T	TTCCTAAA others(12): Show TTCCTAAAGGAAAGATCAGA	frameshift_variant others(2): Show frameshift_variant stop_gained splice_region_variant	HIGH	NA19083.hp2 NA19083.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0053 a0006c0009t0001g0053	1	430	0.0023	19	c.699 others(29): Show c.699-17_700dupTCTGATCTTTCCTTTAGGA	p.Asn others(5): Show p.Asn234fs	REN	ENSG00000143839.15	transcript	ENST00000272190.9	protein_coding	7/10	744/1462	700/1221	234/406			chr1	TogoVar
REPS1_chr6_138898493_138993253	138907313	A A	AAGTGTGT others(12): Show AAGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02572.hp2 NA20300.hp1 HG01081.hp1 HG02572.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0004 a0001c0001t0002 a0002c0003t0004	a0001c0001t0002g0044 a0001c0001t0002g0079 a0002c0003t0004g0022 a0001c0001t0002g0044 a0001c0001t0002g0079 a0002c0003t0004g0022	3	91	0.0330	19	c.232 others(36): Show c.2322+181_2322+182insACACACACACACACACACT		REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	19/19						chr6	TogoVar

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