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
QPCT_chr2_37339630_37378322	37347231	C C	CATATATA others(38): Show CATATATATAACATATATATAAAACATATATATATAACATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	188	0.0053	45	c.120 others(62): Show c.120+2389_120+2390insACATATATATAAAACATATATATATAAC ATATATATATATATATA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
QPCT_chr2_37339630_37378322	37347231	C C	CATATATA others(38): Show CATATATATAACATATATATATAACATATATATATAACATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp1 HG01123.hp2 others(31): Show HG00735.hp2 HG01074.hp1 HG01123.hp2 HG01255.hp2 HG01346.hp2 HG01952.hp1 HG01981.hp1 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02135.hp1 HG02523.hp2 HG03225.hp2 NA18940.hp2 NA18946.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18971.hp1 NA18977.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp2 NA19004.hp1 NA19009.hp1 NA19060.hp2 NA19077.hp1 NA19077.hp2 NA19082.hp1 NA19090.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0003c0004t0002 a0001c0001t0001 a0001c0001t0002 a0003c0004t0002	a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0025 others(23): Show a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0049 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0123 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0002g0200 a0003c0004t0002g0011 a0003c0004t0002g0050 a0003c0004t0002g0055 a0003c0004t0002g0063 a0003c0004t0002g0103	34	221	0.1538	45	c.120 others(62): Show c.120+2389_120+2390insACATATATATATAACATATATATATAAC ATATATATATATATATA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
QSER1_chr11_32887811_32985270	32926968	C C	CTTACTAA others(38): Show CTTACTAATGCATCTTAAATATATTTCCTCCATTGTGATAGTATTG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0088 a0005c0009t0001g0088	1	234	0.0043	45	c.210 others(60): Show c.210-187_210-143dupTACTAATGCATCTTAAATATATTTCCTCCA TTGTGATAGTATTGT	QSER1	ENSG00000060749.17	transcript	ENST00000650167.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
RAB6A_chr11_73670638_73766074	73685588	G G	GAAAGTCT others(38): Show GAAAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00642.hp2 others(15): Show HG00323.hp2 HG00544.hp2 HG00642.hp2 HG01081.hp1 HG01433.hp1 HG02055.hp2 HG02109.hp2 HG02486.hp1 HG02717.hp1 HG02922.hp1 HG02976.hp2 HG03195.hp2 HG03471.hp1 HG03540.hp1 NA18906.hp1 NA18982.hp1 NA19009.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0019	a0001c0001t0002g0070 a0001c0001t0002g0077 a0001c0001t0002g0087 others(15): Show a0001c0001t0002g0070 a0001c0001t0002g0077 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0262 a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0011g0247 a0001c0001t0019g0245	18	41	0.4390	45	c.496 others(62): Show c.496-5869_496-5868insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAGACTTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	6/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	55	0.0182	45	c.71- others(60): Show c.71-8462_71-8461insATATATATATATATATATATATATATATAT ATATATATATATATA	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB7A_chr3_128721183_128819798	128795751	C C	CTTTTTTT others(38): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	3	0.3333	45	c.53+ others(58): Show c.53+348_53+349insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB7A_chr3_128721183_128819798	128809936	C C	CTTTTTTT others(38): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	40	0.0250	45	c.528 others(62): Show c.528+2295_528+2296insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB7B_chr1_205971740_206008395	205974801	T T	TACCACAC others(38): Show TACCACACACACGTGCACACATACATACATACACCTCACACCACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01515.hp2 HG02630.hp2 others(5): Show HG01496.hp1 HG01515.hp2 HG02630.hp2 HG03041.hp1 HG03540.hp2 HG06807.hp2 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0064 a0001c0001t0001g0113 a0001c0001t0006g0072 others(5): Show a0001c0001t0001g0064 a0001c0001t0001g0113 a0001c0001t0006g0072 a0001c0001t0006g0085 a0001c0001t0006g0088 a0001c0001t0006g0097 a0001c0001t0006g0107 a0001c0001t0006g0240	8	328	0.0244	45	c.40 others(56): Show c.4049_*4050insGTGTGGTGTGAGGTGTATGTATGTATGTGTGCAC GTGTGTGTGGT	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding		1938		chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985755	G G	GCCCACCA others(38): Show GCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0034 a0001c0001t0009g0034	1	310	0.0032	45	c.397 others(58): Show c.397-91_397-90insGATGGTGGGCCTGGTGGGCCTGGTGGGGATGG TGGGCCTGGTGGG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985764	C C	CCCCACCA others(38): Show CCCCACCATCCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03453.hp1 HG03471.hp2 HG02572.hp1 HG03453.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0112 a0001c0001t0001g0244 a0001c0002t0003g0007 a0001c0001t0001g0112 a0001c0001t0001g0244 a0001c0002t0003g0007	3	16	0.1875	45	c.397 others(59): Show c.397-100_397-99insCCTGGTGGGCCTGGTGGGGATGGTGGGCCTG GTGGGGATGGTGGG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174833466	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01070.hp2 HG01081.hp1 others(5): Show HG00741.hp1 HG01070.hp2 HG01081.hp1 HG01106.hp2 HG02886.hp1 HG03239.hp2 HG03834.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0017 a0001c0002t0003 a0001c0001t0001 a0001c0001t0017 a0001c0002t0003	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0021 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0067 a0001c0001t0017g0158 a0001c0002t0003g0062	8	102	0.0784	45	c.234 others(66): Show c.2340+21508_2340+21509insTATATATATATATATATATATATA TATATATATATATATATATTA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAC1_chr7_6369527_6408967	6374413	C C	CCGGGAGC others(38): Show CCGGGAGCGGCGCGGGCGGGAGCGGCGCGGGCGGGAGCGGCGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02895.hp2 HG02896.hp2 others(1): Show HG02280.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0109 a0001c0001t0006g0111 a0001c0001t0006g0112 others(1): Show a0001c0001t0006g0109 a0001c0001t0006g0111 a0001c0001t0006g0112 a0001c0001t0007g0114	4	377	0.0106	45	c.-32 others(54): Show c.-323_-322insCGGGAGCGGCGCGGGCGGGAGCGGCGCGGGCGGGAG CGGCGCGGG	RAC1	ENSG00000136238.20	transcript	ENST00000348035.9	protein_coding		113		chr7	TogoVar
RAD18_chr3_8872075_8968472	8937514	T T	TTATATAT others(38): Show TTATATATATAATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02976.hp1 HG03041.hp1 HG02717.hp2 HG02976.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0043 a0002c0002t0004g0044 a0002c0002t0004g0045 a0002c0002t0004g0043 a0002c0002t0004g0044 a0002c0002t0004g0045	3	345	0.0087	45	c.705 others(62): Show c.705-1460_705-1459insTATATATATATATATATATATATATATA TATATATTATATATATA	RAD18	ENSG00000070950.10	transcript	ENST00000264926.7	protein_coding	6/12			chr3	TogoVar
RAD23B_chr9_107278279_107337189	107306085	A A	ATATACAT others(38): Show ATATACATATATATATCTATATATATGTATATATATATATACACTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp2 HG01361.hp2 others(4): Show HG00140.hp2 HG01074.hp2 HG01361.hp2 HG03490.hp1 HG03492.hp1 HG03688.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0030 a0001c0001t0007 a0001c0001t0030	a0001c0001t0007g0022 a0001c0001t0007g0316 a0001c0001t0007g0317 others(3): Show a0001c0001t0007g0022 a0001c0001t0007g0316 a0001c0001t0007g0317 a0001c0001t0007g0318 a0001c0001t0007g0319 a0001c0001t0030g0320	7	343	0.0204	45	c.229 others(60): Show c.229-290_229-289insCATATATATATCTATATATATGTATATATA TATATACACTCTATA	RAD23B	ENSG00000119318.13	transcript	ENST00000358015.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RAD51B_chr14_67814779_68483093	68260318	T T	TGTGTGTG others(38): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGAGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19240.hp1 HG02257.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0001 a0001c0001t0003 a0003c0003t0001	a0001c0001t0003g0038 a0003c0003t0001g0045 a0001c0001t0003g0038 a0003c0003t0001g0045	2	61	0.0328	45	c.757 others(64): Show c.757-31565_757-31564insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGGAGGGGGGGGGGG	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
RADIL_chr7_4792055_4888716	4886301	T T	TATATATA others(38): Show TATATATATATATATATATACACACATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0179 a0003c0013t0001g0179	1	184	0.0054	45	c.-27 others(56): Show c.-2771_-2770insTATATATATATATATATATATGTGTGTATATATA TATATATATAT	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding		2586		chr7	TogoVar
RAE1_chr20_57346255_57384202	57350890	G G	GGGGGGAC others(38): Show GGGGGGACGGGGGGACGGGGGGCGGGGGGGGCGGGGGGGCGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0091 a0001c0005t0001g0091	1	338	0.0030	45	c.-54 others(54): Show c.-540_-539insGGGGGACGGGGGGACGGGGGGCGGGGGGGGCGGGGG GGCGGGGGC	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		364		chr20	TogoVar
RAMP3_chr7_45152791_45189250	45183720	G G	GCGAGCGA others(38): Show GCGAGCGAAGGTGCGCGAGGAGCCGGTCAAGAAAGAGCGTGGGCGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0021 a0002c0003t0021	a0002c0003t0021g0053 a0002c0003t0021g0053	1	418	0.0024	45	c.30 others(54): Show c.308_*309insCGAGCGAAGGTGCGCGAGGAGCCGGTCAAGAAAGAG CGTGGGCGA	RAMP3	ENSG00000122679.8	transcript	ENST00000242249.8	protein_coding	3/3	309		chr7	TogoVar
RAPGEF2_chr4_159098079_159365173	159342593	T T	TTTATCTT others(38): Show TTTATCTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0014	a0001c0006t0014g0100 a0001c0006t0014g0100	1	191	0.0052	45	c.291 others(62): Show c.2919-382_2919-381insCTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTAT	RAPGEF2	ENSG00000109756.10	transcript	ENST00000691494.1	protein_coding	20/29		INFO_REALIGN_3_PRIME	chr4	TogoVar
RAPGEF4_chr2_172730845_173057893	172897732	C C	CTATTTTA others(38): Show CTATTTTATTTTATTTTATTTTATTTTATTTTATTATATTTTATTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	3	0.3333	45	c.445 others(64): Show c.445-20036_445-20035insATATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATT	RAPGEF4	ENSG00000091428.18	transcript	ENST00000397081.8	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
RARS1_chr5_168481471_168524301	168502384	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	203	0.0049	45	c.105 others(62): Show c.1057+280_1057+281insATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTT	RARS1	ENSG00000113643.9	transcript	ENST00000231572.8	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASA3_chr13_113972783_114137623	114052989	T T	TCCTTGCT others(38): Show TCCTTGCTCCCGGAGGAGAGGCCCCTGCTGCTGACTGCCCAGCCGC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02300.hp1 HG01433.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0012 a0001c0001t0006g0013	2	66	0.0303	45	c.174 others(60): Show c.174-835_174-834insGCGGCTGGGCAGTCAGCAGCAGGGGCCTCT CCTCCGGGAGCAAGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114060922	C C	CGGAGCCC others(38): Show CGGAGCCCCCACAGCCGGCAGACGGAGCCCCCCACAGCCGGCAGAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG00733.hp2 others(18): Show HG00621.hp2 HG00639.hp1 HG00733.hp2 HG01167.hp2 HG01175.hp2 HG01361.hp1 HG01433.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02559.hp1 HG02723.hp1 HG02738.hp2 HG03130.hp2 HG03225.hp1 HG04115.hp1 NA18522.hp2 NA18954.hp1 NA18973.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0001c0009t0008	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(18): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0005g0008 a0001c0001t0005g0023 a0001c0002t0002g0004 a0001c0009t0008g0048	21	65	0.3231	45	c.174 others(62): Show c.174-8812_174-8768dupATCTGCCGGCTGTGGGGGGCTCCGTCTG CCGGCTGTGGGGGCTCC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114060967	T T	TGGAGCCC others(38): Show TGGAGCCCCCACAGCCGGCAGACGGAGCCCCCCACAGCCGGCAGAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	63	0.0159	45	c.174 others(62): Show c.174-8813_174-8812insGTCTGCCGGCTGTGGGGGGCTCCGTCTG CCGGCTGTGGGGGCTCC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23			chr13	TogoVar
RASAL1_chr12_113094278_113140761	113127067	T T	TAAATTAT others(38): Show TAAATTATATTTAAATTATTAAAAAATTTAAATAAATTTTAAATTA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	314	0.0032	45	c.298 others(60): Show c.298+744_298+745insTAATTTAAAATTTATTTAAATTTTTTAATA ATTTAAATATAATTT	RASAL1	ENSG00000111344.12	transcript	ENST00000548055.2	protein_coding	4/20			chr12	TogoVar
RASGRF2_chr5_80955363_81235162	80996502	T T	TTCTTCTT others(38): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0271 a0004c0012t0001g0271	1	266	0.0038	45	c.288 others(64): Show c.288+35478_288+35479insTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCCTCCTCCTCCTC	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASSF3_chr12_64605495_64702564	64696122	C C	CCTCCCTC others(38): Show CCTCCCTCACTCACTCCCTCCCTCCCTCCCTCCCTCCCTCACTCCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0237 a0001c0001t0003g0237	1	368	0.0027	45	c.12 others(56): Show c.1210_*1211insCTCCCTCACTCACTCCCTCCCTCCCTCCCTCCCT CCCTCACTCCT	RASSF3	ENSG00000153179.14	transcript	ENST00000542104.6	protein_coding	5/5	1211		chr12	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(38): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0253 a0002c0002t0001g0253	1	23	0.0435	45	c.-35 others(56): Show c.-3577_-3576insTATATATATATATATATATATTTTTTTTTTTTTT TTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RBBP8_chr18_22928328_23031486	23022663	T T	TAAATAAA others(38): Show TAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAAATAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA18612.hp1 HG02602.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0197 a0001c0001t0001g0189 a0001c0001t0001g0197	2	226	0.0088	45	c.259 others(62): Show c.2596+396_2596+397insTAAAATAAAATAAAATAAAATAAAATAA AATAAAAAAAATAAAAA	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr18	TogoVar
RBFOX3_chr17_79084345_79616051	79491118	G G	GGAGGAGA others(38): Show GGAGGAGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGGGAGGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	150	0.0067	45	c.-31 others(64): Show c.-319-8521_-319-8520insTCCTCCCCTCCCCTCCCCTCTCCTCC CCTCCCCTCCCCTCTCCTC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611130	T T	TCTCTCTC others(38): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG02155.hp1 NA18945.hp1 others(1): Show HG00558.hp2 HG02155.hp1 NA18945.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0001 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0008 a0001c0001t0001g0083 a0001c0001t0003g0072 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0083 a0001c0001t0003g0072 a0001c0001t0010g0022	4	38	0.1053	45	c.-62 others(54): Show c.-625_-624insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		80		chr17	TogoVar
RBM42_chr19_35624036_35642685	35638908	C C	CAAAAAAA others(38): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	6	0.1667	45	c.13 others(56): Show c.1354_*1355insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	RBM42	ENSG00000126254.12	transcript	ENST00000262633.9	protein_coding		1224		chr19	TogoVar
RBM47_chr4_40418280_40634864	40573807	A A	AAAAGAAA others(38): Show AAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0205 a0001c0001t0048g0205	1	100	0.0100	45	c.-23 others(66): Show c.-239-29302_-239-29301insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTCTTTCTTTCTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBM5_chr3_50083919_50124021	50084419	C C	CCCTCCCG others(38): Show CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02723.hp1 HG02647.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0044 a0001c0001t0001g0045	2	282	0.0071	45	c.-46 others(56): Show c.-4664_-4663insCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCA	RBM5	ENSG00000003756.17	transcript	ENST00000347869.8	protein_coding		4499		chr3	TogoVar
RBPJL_chr20_45301840_45322824	45305805	C C	CTTTTTTT others(38): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA19011.hp2 NA18945.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	11	0.1818	45	c.-11 others(56): Show c.-1118_-1117insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	RBPJL	ENSG00000124232.11	transcript	ENST00000343694.8	protein_coding		1034		chr20	TogoVar
RCBTB2_chr13_48483963_48538080	48496790	A A	AGAGGGGA others(38): Show AGAGGGGAGGGGAGAGGAGGGGAGGGGAGAGGAGGGGAGGGGAGAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01168.hp1 HG01361.hp2 others(11): Show HG00738.hp2 HG01168.hp1 HG01361.hp2 HG02258.hp2 HG02622.hp2 HG02896.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03540.hp2 NA18906.hp2 NA20752.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0001 a0004c0010t0001 a0001c0001t0001 a0004c0010t0001	a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0043 others(11): Show a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0004c0010t0001g0050	14	292	0.0479	45	c.138 others(62): Show c.1385-514_1385-470dupCTCTCCCCTCCCCTCCTCTCCCCTCCCC TCCTCTCCCCTCCCCTC	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	13/14			chr13	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	ATAAAAAT others(38): Show ATAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA19082.hp1 NA20129.hp1 HG03831.hp2 NA19082.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0053 a0001c0001t0003g0309 a0001c0001t0004g0243 a0001c0001t0003g0053 a0001c0001t0003g0309 a0001c0001t0004g0243	3	146	0.0205	45	c.286 others(62): Show c.286-2161_286-2160insATATATATATATATATATATATATATAT ATATATATATATTTTTA	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCHY1_chr4_75474033_75519403	75487485	C C	CATATATA others(38): Show CATATATATTCATAATATATATATTCATAATATATATATTCATAAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01192.hp1 HG01346.hp2 others(18): Show HG00639.hp2 HG01192.hp1 HG01346.hp2 HG01433.hp1 HG01516.hp2 HG01975.hp1 HG01981.hp2 HG02273.hp2 HG02698.hp1 HG03017.hp1 HG03834.hp2 HG03927.hp1 NA18947.hp1 NA18951.hp2 NA18952.hp1 NA18984.hp2 NA18989.hp1 NA19002.hp1 NA19062.hp2 NA19075.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0251 others(11): Show a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0014g0130 a0001c0001t0014g0131	21	382	0.0550	45	c.657 others(62): Show c.657+3051_657+3095dupATTATGAATATATATATTATGAATATAT ATATTATGAATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
REST_chr4_56902900_56940844	56905329	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0044 a0004c0004t0005g0044	1	292	0.0034	45	c.-28 others(56): Show c.-2894_-2893insTATATATATATATATATATATATATATATATATA TATATATATAT	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2570		chr4	TogoVar
RFC1_chr4_39282456_39371362	39329127	C C	CAAAAAAA others(38): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0118 a0001c0002t0002g0118	1	18	0.0556	45	c.332 others(62): Show c.332-1372_332-1371insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	4/24			chr4	TogoVar
RFLNA_chr12_124290093_124321024	124296076	C C	CTTTCTTT others(38): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0294 a0001c0001t0012g0294	1	385	0.0026	45	c.207 others(60): Show c.207+443_207+487dupTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296146	C C	CTCTCTCT others(38): Show CTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0114 a0001c0001t0008g0114	1	296	0.0034	45	c.207 others(60): Show c.207+511_207+512insCTCTCTCTCTCTTTCTCTTTCTTTCTTTCT TTCTTTCTTTCTTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296161	C C	CTCTCTCT others(38): Show CTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01981.hp1 others(4): Show HG01256.hp2 HG01258.hp1 HG01981.hp1 HG02004.hp1 HG02717.hp2 HG02738.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0003 a0001c0002t0010 a0001c0001t0006 a0001c0002t0003 a0001c0002t0010	a0001c0001t0006g0139 a0001c0001t0006g0141 a0001c0002t0003g0137 others(4): Show a0001c0001t0006g0139 a0001c0001t0006g0141 a0001c0002t0003g0137 a0001c0002t0003g0138 a0001c0002t0003g0140 a0001c0002t0003g0149 a0001c0002t0010g0136	7	170	0.0412	45	c.207 others(60): Show c.207+526_207+527insCTCTCTCTCTCTTTCTCTTTCTTTCTTTCT TTCTTTCTTTCTTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296190	T T	TTTCCTTT others(38): Show TTTCCTTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	358	0.0028	45	c.207 others(60): Show c.207+556_207+557insCCTTTCCTTTCCTTTCCTTTTCCTTTCCTT TCCTTTCCTTTCCTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296190	T T	TTTTCTTT others(38): Show TTTTCTTTTCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0011 a0001c0002t0030g0011	1	358	0.0028	45	c.207 others(60): Show c.207+566_207+567insCCTTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCTTTTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFTN1_chr3_16310845_16518699	16403804	A A	AAAATATA others(38): Show AAAATATATAATATATAATATATTTTATATATATTTTATATATTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02896.hp2 HG02897.hp1 others(5): Show HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03471.hp2 NA18522.hp2 NA19043.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0002c0003t0004 a0001c0001t0001 a0002c0003t0003 a0002c0003t0004	a0001c0001t0001g0107 a0002c0003t0003g0166 a0002c0003t0003g0175 others(5): Show a0001c0001t0001g0107 a0002c0003t0003g0166 a0002c0003t0003g0175 a0002c0003t0004g0082 a0002c0003t0004g0104 a0002c0003t0004g0105 a0002c0003t0004g0106 a0002c0003t0004g0108	8	252	0.0317	45	c.441 others(62): Show c.441+5570_441+5571insAAAATATATAAAATATATATAAAATATA TTATATATTATATATTT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RGPD8_chr2_112363369_112438645	112383095	C C	CAAAAAAA others(38): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0140 a0001c0001t0003g0140	1	204	0.0049	45	c.492 others(64): Show c.4922-2133_4922-2132insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	RGPD8	ENSG00000169629.12	transcript	ENST00000302558.8	protein_coding	20/22			chr2	TogoVar
RGS4_chr1_163064361_163081802	163071855	G G	GCCCCCCC others(38): Show GCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	144	0.0069	45	c.45- others(58): Show c.45-522_45-521insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCC	RGS4	ENSG00000117152.14	transcript	ENST00000367909.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGS7_chr1_240770514_241362205	241259667	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	23	0.0435	45	c.78+ others(62): Show c.78+96031_78+96032insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RIGI_chr9_32450302_32531196	32504718	T T	TATAAAAT others(38): Show TATAAAATATATTTAATACATAAAATATATAAAATATATTTAATAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0224 a0001c0002t0026g0224	1	186	0.0054	45	c.107 others(62): Show c.107-3780_107-3779insGTATTAAATATATTTTATATATTTTATG TATTAAATATATTTTAT	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	1/17			chr9	TogoVar

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