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
RABGAP1L_chr1_174154520_175000308	174833466	A A	ATATATAT others(43): Show ATATATATATATATATATATAATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	95	0.0105	50	c.234 others(71): Show c.2340+21508_2340+21509insTATATATATATATATATAATATAT ATATATATATATATATATATATATTA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174937619	A A	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	193	0.0052	50	c.234 others(71): Show c.2341-19822_2341-19821insATATATATATATATATATATATAT ATATATATATATATATATATATATAT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAD17_chr5_69364818_69419801	69377600	T T	TATATATG others(43): Show TATATATGTATACATATATATATGCATATATATGTATACATATATATATG C	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	309	0.0032	50	c.351 others(67): Show c.351+2895_351+2896insGTATACATATATATATGCATATATATGT ATACATATATATATGCATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RADIL_chr7_4792055_4888716	4808910	C C	CCCCCCCA others(43): Show CCCCCCCACGTCTCCTTCCAACGCCACTGCCCCCCGTTCCGACGCCACTG T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02647.hp2 HG02257.hp2 HG02647.hp2	a0007 a0007	a0007c0022 a0007c0043 a0007c0022 a0007c0043	a0007c0022t0053 a0007c0043t0046 a0007c0022t0053 a0007c0043t0046	a0007c0022t0053g0158 a0007c0043t0046g0135 a0007c0022t0053g0158 a0007c0043t0046g0135	2	289	0.0069	50	c.214 others(69): Show c.2140-3195_2140-3194insACAGTGGCGTCGGAACGGGGGGCAGT GGCGTTGGAAGGAGACGTGGGGGG	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	9/14			chr7	TogoVar
RADIL_chr7_4792055_4888716	4886287	T T	TATATATG others(43): Show TATATATGTGTATATATATATATATATATATATATATATATATATATATA C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0042 a0001c0067t0042	a0001c0067t0042g0134 a0001c0067t0042g0134	1	289	0.0035	50	c.-27 others(61): Show c.-2757_-2756insGTATATATATATATATATATATATATATATATAT ATATATACACATATAT	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding		2572		chr7	TogoVar
RAE1_chr20_57346255_57384202	57350855	G G	GACGGGGG others(43): Show GACGGGGGACGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGACGGGGGG C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	328	0.0030	50	c.-57 others(59): Show c.-575_-574insACGGGGGACGGGGGGCGGGGGGGGCGGGGGGGGCGG GGGGGACGGGGGGC	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		399		chr20	TogoVar
RAE1_chr20_57346255_57384202	57350857	C C	CGGGGGGC others(43): Show CGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGACGGGGGGCGGGGGGGC G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	209	0.0048	50	c.-57 others(59): Show c.-573_-572insGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGACGG GGGGCGGGGGGGCG	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		397		chr20	TogoVar
RAI14_chr5_34651328_34837612	34665007	A A	ATATATAT others(43): Show ATATATATGTGTATATATATATGTGTATATATATATGTGTATATATATGT G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0066 a0004c0012t0002g0066	1	48	0.0208	50	c.-49 others(67): Show c.-49+8539_-49+8540insGTGTATATATATATGTGTATATATATAT GTGTATATATATGTGTATATAT	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RALGAPA2_chr20_20384530_20717644	20642149	G G	GAGGGGAG others(43): Show GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAG A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0083 a0001c0003t0002g0083	1	74	0.0135	50	c.373 others(67): Show c.373-1272_373-1271insTCTCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCT	RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	5/39			chr20	TogoVar
RALYL_chr8_84178274_84926844	84342277	A A	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp2 HG01168.hp1 others(2): Show HG01071.hp1 HG01071.hp2 HG01168.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0003g0068 others(2): Show a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0007g0036	5	29	0.1724	50	c.-24 others(71): Show c.-24+157872_-24+157873insTATATATATATATATATATATATA TATATATATATATATATATATATATA	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84342295	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATATATATATATA A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	74	0.0135	50	c.-24 others(71): Show c.-24+157872_-24+157873insTATATATATATATATATATATATA TATATATATATATATATATATATAAA	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84535602	A A	ATTATTTT others(43): Show ATTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0018 a0001c0001t0013g0018	1	14	0.0714	50	c.256 others(67): Show c.256+6067_256+6068insATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTT	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAP1GAP_chr1_21591221_21674357	21660339	C C	CCATATAT others(43): Show CCATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0179 a0001c0003t0003g0179	1	283	0.0035	50	c.-14 others(69): Show c.-149+8914_-149+8915insTATATATATATATATATATATATATA TATATATATATATATATATATATG	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660339	C C	CTATATAT others(43): Show CTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0352 a0001c0003t0004g0352	1	283	0.0035	50	c.-14 others(69): Show c.-149+8914_-149+8915insTATATATATATATATATATATATATA TATATATATATATATATATATATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660339	C C	CTATTTAT others(43): Show CTATTTATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0354 a0002c0001t0001g0354	1	283	0.0035	50	c.-14 others(69): Show c.-149+8914_-149+8915insTATATATATATATATATATATATATA TATATATATATATATATATAAATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660345	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT T	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0362 a0001c0004t0001g0362	1	259	0.0039	50	c.-14 others(69): Show c.-149+8908_-149+8909insAATATATATATATATATATATATATA TATATATATATATATATATATATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660345	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATATTTAT T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18942.hp2 NA18522.hp1 NA18942.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0172 a0002c0001t0001g0038 a0001c0002t0001g0172 a0002c0001t0001g0038	2	260	0.0077	50	c.-14 others(69): Show c.-149+8908_-149+8909insAATAAATATATATATATATATATATA TATATATATATATATATATATATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660352	T T	TATATATA others(43): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA19066.hp2 NA18941.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0203 a0002c0001t0001g0295 a0001c0002t0001g0203 a0002c0001t0001g0295	2	244	0.0082	50	c.-14 others(69): Show c.-149+8901_-149+8902insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTATATATATAT	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660352	T T	TATATATA others(43): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02135.hp1 NA19085.hp2 HG00621.hp2 HG02135.hp1 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0168 a0001c0004t0001g0197 a0001c0004t0001g0198 a0001c0002t0001g0168 a0001c0004t0001g0197 a0001c0004t0001g0198	3	245	0.0122	50	c.-14 others(69): Show c.-149+8901_-149+8902insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTATATATATATAT	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660352	T T	TATATATA others(43): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0167 a0001c0002t0001g0167	1	243	0.0041	50	c.-14 others(69): Show c.-149+8901_-149+8902insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTATATATATATATAT	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660352	T T	TATATATA others(43): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02071.hp2 NA18953.hp1 HG02015.hp1 HG02071.hp2 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193	3	245	0.0122	50	c.-14 others(69): Show c.-149+8901_-149+8902insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTATATATATATATATATAT	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660701	T T	TCTTAGCT others(43): Show TCTTAGCTCACAGAGTGATGGCGTGTTAAACAAGGTGATGCACACAGACA C	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0294 a0002c0005t0001g0294	1	370	0.0027	50	c.-14 others(69): Show c.-149+8503_-149+8552dupGTGTCTGTGTGCATCACCTTGTTTAA CACGCCATCACTCTGTGAGCTAAG	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RASA3_chr13_113972783_114137623	114044388	C C	CCGCCCCG others(43): Show CCGCCCCGCCTCACTCGCTGAGCCCCCCCCCGCCCCGCCTCACTCGCTGA G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0017 a0001c0005t0001g0017	1	64	0.0156	50	c.278 others(67): Show c.278-3295_278-3294insCTCAGCGAGTGAGGCGGGGCGGGGGGGG GCTCAGCGAGTGAGGCGGGGCG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASGEF1B_chr4_81421393_81476907	81466770	A A	AAAAAAGA others(43): Show AAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	45	0.0222	50	c.-7+ others(65): Show c.-7+4999_-7+5000insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTTT	RASGEF1B	ENSG00000138670.19	transcript	ENST00000264400.7	protein_coding	1/13			chr4	TogoVar
RASGRF1_chr15_78954906_79095780	79059372	T T	TCCTTCCC others(43): Show TCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0308 a0001c0002t0003g0308	1	142	0.0070	50	c.384 others(65): Show c.384-941_384-892dupGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGG	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding	2/26			chr15	TogoVar
RASGRF2_chr5_80955363_81235162	80992183	T T	TACACACA others(43): Show TACACACACACACACATACACACACATACACACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03130.hp1 HG03195.hp2 others(3): Show HG02647.hp1 HG03130.hp1 HG03195.hp2 HG03453.hp2 HG03486.hp1 HG03516.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0003c0016	a0001c0001t0036 a0001c0002t0003 a0001c0004t0004 others(2): Show a0001c0001t0036 a0001c0002t0003 a0001c0004t0004 a0001c0004t0058 a0003c0016t0057	a0001c0001t0036g0270 a0001c0002t0003g0038 a0001c0004t0004g0005 others(3): Show a0001c0001t0036g0270 a0001c0002t0003g0038 a0001c0004t0004g0005 a0001c0004t0004g0008 a0001c0004t0058g0007 a0003c0016t0057g0029	6	127	0.0472	50	c.288 others(69): Show c.288+31172_288+31173insTACACACACATACACACACACACACA CACACACACACACACACACACACA	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASSF3_chr12_64605495_64702564	64660006	G G	GTATATAT others(43): Show GTATATATATATGTGTGTGTGTGTATGTGTATATATATGTGTGTATGTAT A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01256.hp1 HG02683.hp2 others(4): Show HG00323.hp1 HG01256.hp1 HG02683.hp2 HG04204.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0052 a0001c0001t0053 a0001c0001t0011 a0001c0001t0052 a0001c0001t0053	a0001c0001t0011g0149 a0001c0001t0011g0155 a0001c0001t0011g0162 others(4): Show a0001c0001t0011g0149 a0001c0001t0011g0155 a0001c0001t0011g0162 a0001c0001t0011g0169 a0001c0001t0011g0172 a0001c0001t0052g0177 a0001c0001t0053g0178	7	285	0.0246	50	c.112 others(69): Show c.112-24772_112-24771insATGTGTGTGTGTGTATGTGTATATAT ATGTGTGTATGTATATATATATAT	RASSF3	ENSG00000153179.14	transcript	ENST00000542104.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
RASSF5_chr1_206502531_206594448	206524558	A A	AATATATT others(43): Show AATATATTATGTATAATATATAAAATATATATTATGTATAATATATAAAA T	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	136	0.0074	50	c.458 others(69): Show c.458-13580_458-13579insGTATAATATATAAAATATATATTATG TATAATATATAAAATATATATTAT	RASSF5	ENSG00000266094.8	transcript	ENST00000579436.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	23	0.0435	50	c.-35 others(61): Show c.-3577_-3576insTATATATATATATATATATATATATTTTTTTTTT TTTTTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RBBP8_chr18_22928328_23031486	23022602	A A	AAAAATAA others(43): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	214	0.0047	50	c.259 others(67): Show c.2596+370_2596+371insATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAA	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr18	TogoVar
RBBP8_chr18_22928328_23031486	23022663	T T	TAAAATAA others(43): Show TAAAATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAAATA A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	225	0.0044	50	c.259 others(67): Show c.2596+404_2596+405insAATAAAATAAAATAAAATAAAATAAAAT AAAAAAAATAAAAAATAAATAA	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr18	TogoVar
RBBP8_chr18_22928328_23031486	23022663	T T	TAAATAAA others(43): Show TAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAAATA A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG01074.hp1 others(23): Show HG00408.hp1 HG00558.hp1 HG01074.hp1 HG01934.hp1 HG01943.hp2 HG01993.hp2 HG02015.hp1 HG02056.hp2 HG02735.hp2 HG03491.hp1 HG03927.hp1 HG04199.hp2 NA18747.hp2 NA18939.hp2 NA18943.hp2 NA18961.hp1 NA18963.hp2 NA19004.hp2 NA19010.hp2 NA19060.hp1 NA19067.hp1 NA19074.hp1 NA19078.hp2 NA19083.hp1 NA19088.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0024 a0001c0001t0001g0167 a0001c0001t0001g0169 others(23): Show a0001c0001t0001g0024 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0266 a0001c0001t0002g0308	26	250	0.1040	50	c.259 others(67): Show c.2596+396_2596+397insTAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAAAAAATAAAAA	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr18	TogoVar
RBFOX1_chr16_6014024_7718340	6256175	A A	ATATATGT others(43): Show ATATATGTATATATATGTATATATATACGTATATATATGTATATGTATAC G	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0034 a0003c0003t0034	a0003c0003t0034g0061 a0003c0003t0034g0061	1	24	0.0417	50	c.-12 others(71): Show c.-126-60815_-126-60814insGTATATATATGTATATATATACGT ATATATATGTATATGTATACGTATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6256179	A A	ATGTATAT others(43): Show ATGTATATATATGTATATATGTATATATATATACGTATATATATGTATAT G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	65	0.0154	50	c.-12 others(71): Show c.-126-60815_-126-60814insGTATATATATGTATATATGTATAT ATATATACGTATATATATGTATATGT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6256211	G G	GTATATAT others(43): Show GTATATATATGTATATATATATGTATATATATATGTATATATATATGTGT A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0064 a0001c0001t0040g0064	1	66	0.0152	50	c.-12 others(71): Show c.-126-60761_-126-60760insATATATATATGTATATATATATGT GTATATATATATGTATATATATATGT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6450812	T T	TACATATA others(43): Show TACATATATATATATACATATATATATATATACATATATATATGTATATA C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01261.hp1 HG03098.hp1 HG00280.hp2 HG01261.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0025 a0001c0001t0001g0063 a0001c0001t0004g0040 a0001c0001t0001g0025 a0001c0001t0001g0063 a0001c0001t0004g0040	3	58	0.0517	50	c.-64 others(71): Show c.-64+133756_-64+133757insCATATATATATATACATATATATA TATATACATATATATATGTATATACA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6637430	T T	TATATTAT others(43): Show TATATTATATAATATATAAATATATATATTATATAATATATAAATATATT A	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA20300.hp1 NA18994.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0034 a0001c0001t0002 a0003c0003t0034	a0001c0001t0002g0017 a0003c0003t0034g0061 a0001c0001t0002g0017 a0003c0003t0034g0061	2	12	0.1667	50	c.-63 others(69): Show c.-63-17173_-63-17172insATATTATATAATATATAAATATATAT ATTATATAATATATAAATATATTA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15			chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6656931	C C	CCCTCTCC others(43): Show CCCTCTCCTCTCCTCCCCTCTCCTCCCCTTTCCTCTCCTCCCCTTTCCTC T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01261.hp2 HG02559.hp1 others(7): Show HG00741.hp2 HG01261.hp2 HG02559.hp1 HG02622.hp1 HG02735.hp1 HG02976.hp1 HG03471.hp1 HG03579.hp2 HG03831.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0016 a0001c0001t0042 a0001c0002t0028	a0001c0001t0001g0020 a0001c0001t0001g0053 a0001c0001t0002g0005 others(7): Show a0001c0001t0001g0020 a0001c0001t0001g0053 a0001c0001t0002g0005 a0001c0001t0003g0006 a0001c0001t0004g0033 a0001c0001t0004g0057 a0001c0001t0005g0058 a0001c0001t0016g0011 a0001c0001t0042g0022 a0001c0002t0028g0031	10	66	0.1515	50	c.-16 others(67): Show c.-16+2290_-16+2291insTCCTCCCCTCTCCTCCCCTTTCCTCTCC TCCCCTTTCCTCTCCTCTCCTC	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7225905	A A	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0009 a0001c0001t0022g0009	1	8	0.1250	50	c.27+ others(69): Show c.27+173822_27+173823insTATATATATATATATATATATATATA TATATATATATATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79512629	A A	ATGTTACC others(43): Show ATGTTACCATCGGGTACGGCCCCATGGCCAGGGGACACCCACCCGGATAC G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01175.hp2 HG02004.hp2 others(5): Show HG00642.hp1 HG01175.hp2 HG02004.hp2 HG02129.hp2 HG02155.hp2 HG02683.hp2 HG03492.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0020 a0001c0001t0024 a0001c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0003g0033 others(5): Show a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0003g0033 a0001c0001t0003g0046 a0001c0001t0007g0001 a0001c0001t0020g0030 a0001c0001t0024g0149 a0001c0002t0001g0045	8	89	0.0899	50	c.-31 others(71): Show c.-319-30081_-319-30032dupCGTATCCGGGTGGGTGTCCCCTGG CCATGGGGCCGTACCCGATGGTAACA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611174	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCCGCCCTCCTTCTCTCTCTCTCTCTCTCTC T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0095 a0001c0001t0004g0095	1	116	0.0086	50	c.-66 others(59): Show c.-669_-668insAGAGAGAGAGAGAGAGAGAGAAGGAGGGCGGAGAGA GAGAGAGAGAGAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		124		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611174	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCCGCCCTCCTTCTCTCTCTCTCTC T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	116	0.0086	50	c.-66 others(59): Show c.-669_-668insAGAGAGAGAGAGAGAAGGAGGGCGGAGAGAGAGAGA GAGAGAGAGAGAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		124		chr17	TogoVar
RBKS_chr2_27776379_27895387	27789949	G G	GTATATAT others(43): Show GTATATATATATATATATATATATATATATGTATATGTGTATATATATAT A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	123	0.0081	50	c.796 others(67): Show c.796-8162_796-8161insTATATATATATACACATATACATATATA TATATATATATATATATATATA	RBKS	ENSG00000171174.15	transcript	ENST00000302188.8	protein_coding	7/7			chr2	TogoVar
RBM5_chr3_50083919_50124021	50084908	G G	GCTGGACG others(43): Show GCTGGACGGGGTGGCTGGCCGGGCGGGGGGGCTGATCCCCCCACCTCCCT C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	132	0.0076	50	c.-41 others(61): Show c.-4175_-4174insCTGGACGGGGTGGCTGGCCGGGCGGGGGGGCTGA TCCCCCCACCTCCCTC	RBM5	ENSG00000003756.17	transcript	ENST00000347869.8	protein_coding		4010		chr3	TogoVar
RBM5_chr3_50083919_50124021	50084941	A A	ATCCCCCC others(43): Show ATCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTGA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG03927.hp2 HG04184.hp1 HG00597.hp2 HG03927.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004	3	279	0.0108	50	c.-41 others(61): Show c.-4142_-4141insTCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGC CAGGCGGGGGGCTGAC	RBM5	ENSG00000003756.17	transcript	ENST00000347869.8	protein_coding		3977		chr3	TogoVar
RBMS3_chr3_29276071_30015386	29472992	G G	GACACAAA others(43): Show GACACAAAAGTTCTCCACCTCCCCACCAGATTAGCTAGATACAGAGTGTC C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00673.hp1 others(46): Show HG00408.hp1 HG00408.hp2 HG00673.hp1 HG00673.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01169.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01993.hp2 HG02040.hp1 HG02083.hp1 HG02155.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02895.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18944.hp1 NA18944.hp2 NA18957.hp1 NA18982.hp2 NA18994.hp2 NA19009.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0042 a0001c0001t0052 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0077 a0001c0001t0079 a0001c0001t0082 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0010 a0001c0002t0031 a0001c0002t0039 a0001c0002t0041 a0001c0002t0046 a0001c0002t0047 a0001c0002t0050 a0001c0002t0053 a0001c0002t0081 a0001c0002t0086 a0001c0003t0009	a0001c0001t0001g0041 a0001c0001t0002g0048 a0001c0001t0002g0049 others(46): Show a0001c0001t0001g0041 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0003g0089 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0005g0003 a0001c0001t0006g0062 a0001c0001t0010g0097 a0001c0001t0011g0035 a0001c0001t0012g0004 a0001c0001t0012g0034 a0001c0001t0015g0027 a0001c0001t0015g0050 a0001c0001t0017g0076 a0001c0001t0022g0093 a0001c0001t0023g0053 a0001c0001t0026g0113 a0001c0001t0028g0038 a0001c0001t0029g0116 a0001c0001t0032g0115 a0001c0001t0033g0042 a0001c0001t0035g0105 a0001c0001t0036g0047 a0001c0001t0042g0095 a0001c0001t0052g0022 a0001c0001t0069g0001 a0001c0001t0071g0079 a0001c0001t0072g0072 a0001c0001t0073g0069 a0001c0001t0074g0029 a0001c0001t0075g0059 a0001c0001t0077g0056 a0001c0001t0079g0111 a0001c0001t0082g0030 a0001c0002t0001g0043 a0001c0002t0004g0092 a0001c0002t0005g0006 a0001c0002t0010g0096 a0001c0002t0031g0037 a0001c0002t0039g0091 a0001c0002t0041g0104 a0001c0002t0046g0107 a0001c0002t0047g0036 a0001c0002t0050g0023 a0001c0002t0053g0011 a0001c0002t0081g0016 a0001c0002t0086g0067 a0001c0003t0009g0039	49	113	0.4336	50	c.249 others(69): Show c.249-15442_249-15441insAGTTCTCCACCTCCCCACCAGATTAG CTAGATACAGAGTGTCCACACAAA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29472992	G G	GACACAAA others(43): Show GACACAAAGGTTCTCCACGTCCCCATCAGATTAGTTAGATACAGAGTGTC C	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0063 a0001c0001t0016g0063	1	65	0.0154	50	c.249 others(69): Show c.249-15420_249-15419insTTAGTTAGATACAGAGTGTCCACACA AAGGTTCTCCACGTCCCCATCAGA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RCBTB2_chr13_48483963_48538080	48527356	T T	TCATATAT others(43): Show TCATATATATATATATATATGATATATATATATATGATATATATATATAT G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	268	0.0037	50	c.-21 others(69): Show c.-218-2600_-218-2599insCATATATATATATATCATATATATAT ATATCATATATATATATATATATG	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14			chr13	TogoVar
RCHY1_chr4_75474033_75519403	75487617	T T	TATATATA others(43): Show TATATATATTCATATATATTCATAATATATATATTCATAATATATATATT C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02895.hp1 HG02896.hp1 others(1): Show HG02145.hp1 HG02895.hp1 HG02896.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0019 a0001c0001t0007g0042 a0001c0001t0007g0019 a0001c0001t0007g0042	4	277	0.0144	50	c.657 others(67): Show c.657+2963_657+2964insGAATATATATATTATGAATATATATATT ATGAATATATATGAATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCHY1_chr4_75474033_75519403	75487682	T T	TATATATT others(43): Show TATATATTCATATATATATATTCATAATATATATTCATATATATATTCAT A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp1 HG02965.hp1 others(1): Show HG01243.hp1 HG02258.hp1 HG02965.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0086 a0001c0001t0003g0136 others(1): Show a0001c0001t0003g0078 a0001c0001t0003g0086 a0001c0001t0003g0136 a0001c0001t0003g0148	4	308	0.0130	50	c.657 others(67): Show c.657+2898_657+2899insTATGAATATATATATGAATATATATTAT GAATATATATATATGAATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar

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