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
RANBP17_chr5_170857018_171305015	171277637	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01934.hp1 HG02451.hp2 others(6): Show HG00738.hp2 HG01934.hp1 HG02451.hp2 HG02965.hp1 HG03492.hp2 HG03516.hp2 HG03834.hp2 NA18972.hp1 NA19005.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0017 a0001c0001 a0011c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0011c0017t0001	a0001c0001t0001g0054 a0001c0001t0001g0074 a0001c0001t0001g0109 others(6): Show a0001c0001t0001g0054 a0001c0001t0001g0074 a0001c0001t0001g0109 a0001c0001t0002g0018 a0001c0001t0002g0125 a0001c0001t0002g0130 a0001c0001t0002g0141 a0001c0001t0003g0082 a0011c0017t0001g0056	9	192	0.0469	24	c.294 others(45): Show c.2943+11791_2943+11792insGTATATATATATATATATATATAT	RANBP17	ENSG00000204764.14	transcript	ENST00000523189.6	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr5	TogoVar
RANBP17_chr5_170857018_171305015	171277637	G G	GTGTGTAT others(17): Show GTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG03209.hp2 HG01952.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0003 a0001c0001t0004 a0001c0002t0003	a0001c0001t0004g0065 a0001c0002t0003g0097 a0001c0001t0004g0065 a0001c0002t0003g0097	2	192	0.0104	24	c.294 others(45): Show c.2943+11791_2943+11792insGTGTATATATATATATATATATAT	RANBP17	ENSG00000204764.14	transcript	ENST00000523189.6	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr5	TogoVar
RANBP3_chr19_5911139_5983140	5979530	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01192.hp1 HG01358.hp1 others(14): Show HG01106.hp1 HG01192.hp1 HG01358.hp1 HG02132.hp2 HG02145.hp2 HG02486.hp1 HG02717.hp1 HG03486.hp2 HG04204.hp1 NA18962.hp1 NA18970.hp1 NA18973.hp1 NA19007.hp2 NA19056.hp1 NA19086.hp1 NA19090.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019 others(13): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0080 a0001c0001t0001g0103 a0001c0001t0001g0116 a0001c0001t0001g0133 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0204 a0001c0001t0001g0210	17	322	0.0528	24	c.-14 others(35): Show c.-1449_-1448insTATATATATATATATATATATATA	RANBP3	ENSG00000031823.14	transcript	ENST00000340578.10	protein_coding		1391		chr19	TogoVar
RANBP3_chr19_5911139_5983140	5979532	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	322	0.0031	24	c.-14 others(35): Show c.-1451_-1450insTATATATATATATATATATATATA	RANBP3	ENSG00000031823.14	transcript	ENST00000340578.10	protein_coding		1393		chr19	TogoVar
RANBP9_chr6_13616498_13716835	13705868	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03098.hp1 HG00423.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0183 a0001c0002t0001g0012 a0001c0001t0002g0183 a0001c0002t0001g0012	2	360	0.0056	24	c.571 others(41): Show c.571+5066_571+5067insTTTTTTTTTTTTTTTTTTTTTTTT	RANBP9	ENSG00000010017.13	transcript	ENST00000011619.6	protein_coding	1/13			chr6	TogoVar
RAP1A_chr1_111614789_111721691	111619785	C C	CGCCGCCG others(17): Show CGCCGCCGCCGCTCCCGAGGCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	380	0.0026	24	c.-17 others(33): Show c.-177_-176insGCCGCCGCCGCTCCCGAGGCCCCT	RAP1A	ENSG00000116473.15	transcript	ENST00000369709.4	protein_coding		3		chr1	TogoVar
RAP1B_chr12_68605899_68676901	68662008	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0358 a0001c0001t0048g0358	1	388	0.0026	24	c.27 others(35): Show c.2761_*2784dupATATATATATATATATATATATAT	RAP1B	ENSG00000127314.18	transcript	ENST00000250559.14	protein_coding	8/8	4847	INFO_REALIGN_3_PRIME	chr12	TogoVar
RAP1B_chr12_68605899_68676901	68672906	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0341 a0001c0001t0008g0341	1	388	0.0026	24	c.13 others(37): Show c.13657_*13658insATATATATATATATATATATATAT	RAP1B	ENSG00000127314.18	transcript	ENST00000250559.14	protein_coding		1006		chr12	TogoVar
RAP1GAP2_chr17_2791438_3042741	2806376	T T	TTTATTAT others(17): Show TTTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02572.hp1 HG03540.hp2 HG02074.hp1 HG02572.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0002 a0001c0001t0026 a0002c0006t0004 a0001c0001t0002 a0001c0001t0026 a0002c0006t0004	a0001c0001t0002g0189 a0001c0001t0026g0188 a0002c0006t0004g0087 a0001c0001t0002g0189 a0001c0001t0026g0188 a0002c0006t0004g0087	3	218	0.0138	24	c.80+ others(39): Show c.80+5835_80+5858dupATTATTATTATTATTATTATTATT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2969163	T T	TTATCTAT others(17): Show TTATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01361.hp2 HG01496.hp2 others(2): Show HG00408.hp1 HG01361.hp2 HG01496.hp2 HG02148.hp2 NA18990.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0015 a0001c0002 a0002c0003 a0002c0015	a0001c0002t0109 a0002c0003t0004 a0002c0015t0032 others(1): Show a0001c0002t0109 a0002c0003t0004 a0002c0015t0032 a0002c0015t0075	a0001c0002t0109g0130 a0002c0003t0004g0184 a0002c0003t0004g0186 others(2): Show a0001c0002t0109g0130 a0002c0003t0004g0184 a0002c0003t0004g0186 a0002c0015t0032g0167 a0002c0015t0075g0122	5	218	0.0229	24	c.596 others(41): Show c.596+3539_596+3540insCTATCTATCTATCTATCTATCTAT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2969179	C C	CTATCTAT others(17): Show CTATCTATCTATCTATCTATCTATA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0172 a0002c0003t0001g0172	1	218	0.0046	24	c.596 others(41): Show c.596+3539_596+3540insCTATCTATCTATCTATCTATATAT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2969496	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02622.hp1 HG02486.hp2 HG02622.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0056 a0001c0010t0057 a0001c0010t0056 a0001c0010t0057	a0001c0010t0056g0018 a0001c0010t0057g0090 a0001c0010t0056g0018 a0001c0010t0057g0090	2	218	0.0092	24	c.596 others(41): Show c.596+3876_596+3877insTTTTTTTTTTTTTTTTTTTTTTTT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP_chr1_21591221_21674357	21604937	A A	ATGGGTGG others(17): Show ATGGGTGGGTGGATGGATGAGTGGG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0113 a0002c0001t0002g0113	1	372	0.0027	24	c.142 others(43): Show c.1428+1105_1428+1128dupCCCACTCATCCATCCACCCACCCA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	18/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21653580	C C	CTTCCTTC others(17): Show CTTCCTTCCTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01109.hp2 HG00099.hp1 HG01109.hp2	a0002 a0005 a0002 a0005	a0002c0008 a0005c0020 a0002c0008 a0005c0020	a0002c0008t0003 a0005c0020t0001 a0002c0008t0003 a0005c0020t0001	a0002c0008t0003g0365 a0005c0020t0001g0366 a0002c0008t0003g0365 a0005c0020t0001g0366	2	372	0.0054	24	c.-14 others(43): Show c.-148-3785_-148-3784insAGAAGGAAGGAAGGAAGGAAGGAA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660339	C C	CTATTTAT others(17): Show CTATTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01934.hp2 HG03669.hp2 others(3): Show HG00738.hp2 HG01934.hp2 HG03669.hp2 HG04228.hp1 NA18990.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0002c0001t0002 a0001c0002t0001 a0002c0001t0001 a0002c0001t0002	a0001c0002t0001g0105 a0002c0001t0001g0106 a0002c0001t0002g0067 others(3): Show a0001c0002t0001g0105 a0002c0001t0001g0106 a0002c0001t0002g0067 a0002c0001t0002g0104 a0002c0001t0002g0107 a0002c0001t0002g0115	6	372	0.0161	24	c.-14 others(43): Show c.-149+8914_-149+8915insTATATATATATATATATATAAATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660345	A A	ATATATAT others(17): Show ATATATATATATATATTTATTTATT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0059 a0001c0012t0001g0059	1	372	0.0027	24	c.-14 others(43): Show c.-149+8908_-149+8909insAATAAATAAATATATATATATATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GDS1_chr4_98256384_98448858	98308297	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	242	0.0041	24	c.112 others(43): Show c.112+14794_112+14817dupATATATATATATATATATATATAT	RAP1GDS1	ENSG00000138698.15	transcript	ENST00000408927.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
RAP1GDS1_chr4_98256384_98448858	98363478	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0008	1	242	0.0041	24	c.361 others(43): Show c.361+10881_361+10904dupAAAAAAAAAAAAAAAAAAAAAAAA	RAP1GDS1	ENSG00000138698.15	transcript	ENST00000408927.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
RAP1GDS1_chr4_98256384_98448858	98438567	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0189 a0001c0001t0014g0189	1	242	0.0041	24	c.169 others(43): Show c.1696+1521_1696+1522insATATATATATATATATATATATAT	RAP1GDS1	ENSG00000138698.15	transcript	ENST00000408927.8	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
RAP1GDS1_chr4_98256384_98448858	98443015	A A	ATTTTTTT others(17): Show ATTTTTTTTTCTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp1 HG01255.hp2 HG01168.hp1 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0177 a0001c0001t0014g0189 a0001c0001t0014g0177 a0001c0001t0014g0189	2	242	0.0083	24	c.90 others(33): Show c.907_*908insCTTTTTTTTTTTTTTTTTTTTTTT	RAP1GDS1	ENSG00000138698.15	transcript	ENST00000408927.8	protein_coding	15/15	908	INFO_REALIGN_3_PRIME	chr4	TogoVar
RAP1GDS1_chr4_98256384_98448858	98443015	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0225 a0001c0002t0027g0225	1	242	0.0041	24	c.92 others(33): Show c.921_*922insTTTTTTTTTTTTTTTTTTTTTTTT	RAP1GDS1	ENSG00000138698.15	transcript	ENST00000408927.8	protein_coding	15/15	922	INFO_REALIGN_3_PRIME	chr4	TogoVar
RAPGEF1_chr9_131571775_131745076	131730697	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	368	0.0027	24	c.61+ others(39): Show c.61+9072_61+9073insTTTTTTTTTTTTTTTTTTTTTTTT	RAPGEF1	ENSG00000107263.19	transcript	ENST00000683357.1	protein_coding	1/26			chr9	TogoVar
RAPGEF2_chr4_159098079_159365173	159104553	A A	AGAGAGAG others(17): Show AGAGAGAGAGGGAGAGAGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0077 a0001c0001t0007g0077	1	194	0.0052	24	c.69+ others(37): Show c.69+323_69+324insAGAGAGAGGGAGAGAGTGTGTGTG	RAPGEF2	ENSG00000109756.10	transcript	ENST00000691494.1	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr4	TogoVar
RAPGEF2_chr4_159098079_159365173	159294634	T T	TCTTCCTT others(17): Show TCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01167.hp2 HG01071.hp1 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0002 a0001c0002t0001 a0001c0008t0002	a0001c0002t0001g0102 a0001c0008t0002g0119 a0001c0002t0001g0102 a0001c0008t0002g0119	2	194	0.0103	24	c.544 others(41): Show c.544-9675_544-9652dupCTTCCTTCCTTCCTTCCTTCCTTC	RAPGEF2	ENSG00000109756.10	transcript	ENST00000691494.1	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr4	TogoVar
RAPGEF2_chr4_159098079_159365173	159309993	A A	ATAAAACA others(17): Show ATAAAACAATGTTTTAATTTAATAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp1 HG02109.hp2 others(24): Show HG01081.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 others(10): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0021 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0003t0004 a0001c0003t0017 a0001c0003t0019 a0001c0005t0005 a0001c0005t0012	a0001c0001t0004g0194 a0001c0001t0005g0012 a0001c0001t0005g0051 others(24): Show a0001c0001t0004g0194 a0001c0001t0005g0012 a0001c0001t0005g0051 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0008g0070 a0001c0001t0013g0083 a0001c0001t0013g0084 a0001c0001t0013g0085 a0001c0001t0021g0028 a0001c0001t0029g0002 a0001c0001t0033g0113 a0001c0001t0034g0115 a0001c0003t0004g0009 a0001c0003t0004g0019 a0001c0003t0004g0045 a0001c0003t0004g0047 a0001c0003t0004g0061 a0001c0003t0004g0063 a0001c0003t0004g0064 a0001c0003t0004g0068 a0001c0003t0004g0072 a0001c0003t0004g0080 a0001c0003t0017g0117 a0001c0003t0019g0135 a0001c0005t0005g0016 a0001c0005t0012g0105	27	194	0.1392	24	c.676 others(41): Show c.676-4598_676-4597insTAAAACAATGTTTTAATTTAATAC	RAPGEF2	ENSG00000109756.10	transcript	ENST00000691494.1	protein_coding	8/29			chr4	TogoVar
RAPGEF2_chr4_159098079_159365173	159348242	A A	AGATAGAT others(17): Show AGATAGATAGATAGATAGATAGATG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0085 a0001c0001t0013g0085	1	194	0.0052	24	c.371 others(43): Show c.3712+1247_3712+1248insAGATAGATAGATAGATAGATGGAT	RAPGEF2	ENSG00000109756.10	transcript	ENST00000691494.1	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr4	TogoVar
RAPGEF4_chr2_172730845_173057893	172831266	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01257.hp1 NA19005.hp1 HG01099.hp1 HG01257.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0130 a0001c0001t0001g0157 a0001c0001t0001g0103 a0001c0001t0001g0130 a0001c0001t0001g0157	3	178	0.0169	24	c.444 others(43): Show c.444+16860_444+16861insTTTTTTTTTTTTTTTTTTTTTTTT	RAPGEF4	ENSG00000091428.18	transcript	ENST00000397081.8	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAPGEF4_chr2_172730845_173057893	172926033	C C	CGGAGGGA others(17): Show CGGAGGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03654.hp1 HG03942.hp1 HG00140.hp1 HG03654.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0126 a0001c0001t0001g0159 a0001c0001t0002g0002 a0001c0001t0001g0126 a0001c0001t0001g0159 a0001c0001t0002g0002	3	178	0.0169	24	c.537 others(41): Show c.537+3741_537+3764dupGGGAGGGAGGGAGGGAGGGAGGGA	RAPGEF4	ENSG00000091428.18	transcript	ENST00000397081.8	protein_coding	6/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAPGEF5_chr7_22113236_22362154	22115184	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 NA18612.hp1 NA18999.hp1 others(3): Show HG00621.hp2 NA18612.hp1 NA18999.hp1 NA19005.hp1 NA19005.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0003 a0001c0001t0165 a0001c0002t0013 others(2): Show a0001c0001t0003 a0001c0001t0165 a0001c0002t0013 a0001c0002t0020 a0001c0009t0164	a0001c0001t0003g0318 a0001c0001t0165g0186 a0001c0002t0013g0063 others(3): Show a0001c0001t0003g0318 a0001c0001t0165g0186 a0001c0002t0013g0063 a0001c0002t0013g0094 a0001c0002t0020g0316 a0001c0009t0164g0008	6	330	0.0182	24	c.72 others(35): Show c.7221_*7222insGTGTGTGTGTGTGTGTGTGTGTGT	RAPGEF5	ENSG00000136237.20	transcript	ENST00000665637.1	protein_coding		3051		chr7	TogoVar
RAPGEF6_chr5_131418921_131640229	131445493	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02559.hp2 others(4): Show HG02258.hp1 HG02280.hp1 HG02559.hp2 HG02723.hp1 HG02965.hp1 HG03041.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0005 a0001c0005t0004 a0001c0001t0002 a0001c0001t0005 a0001c0005t0004	a0001c0001t0002g0088 a0001c0001t0005g0319 a0001c0001t0005g0320 others(4): Show a0001c0001t0002g0088 a0001c0001t0005g0319 a0001c0001t0005g0320 a0001c0001t0005g0322 a0001c0001t0005g0323 a0001c0001t0005g0324 a0001c0005t0004g0276	7	324	0.0216	24	c.342 others(41): Show c.3421+966_3421+989dupCACACACACACACACACACACACA	RAPGEF6	ENSG00000158987.22	transcript	ENST00000509018.6	protein_coding	22/27			chr5	TogoVar
RAPGEFL1_chr17_40172470_40200650	40172969	T T	TTTTTTTT others(17): Show TTTTTTTTTTTTTTTTTTTTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0207 a0001c0001t0076g0207	1	316	0.0032	24	c.-48 others(35): Show c.-4893_-4892insTTTTTTTTTTTTTTTTTTTGTGTG	RAPGEFL1	ENSG00000108352.13	transcript	ENST00000620260.6	protein_coding		4500		chr17	TogoVar
RAPH1_chr2_203428682_203540301	203434040	A A	ATATATAT others(17): Show ATATATATCTATCTATCTATCTATC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0095 a0001c0003t0095	a0001c0003t0095g0273 a0001c0003t0095g0273	1	290	0.0035	24	c.53 others(35): Show c.5396_*5397insGATAGATAGATAGATAGATATATA	RAPH1	ENSG00000173166.18	transcript	ENST00000319170.10	protein_coding	14/14	5396		chr2	TogoVar
RAPH1_chr2_203428682_203540301	203529005	A A	ATATATAT others(17): Show ATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0011 a0011	a0011c0034 a0011c0034	a0011c0034t0094 a0011c0034t0094	a0011c0034t0094g0267 a0011c0034t0094g0267	1	290	0.0035	24	c.-1+ others(39): Show c.-1+6105_-1+6106insAAAAAAAAAAAATATATATATATA	RAPH1	ENSG00000173166.18	transcript	ENST00000319170.10	protein_coding	1/13			chr2	TogoVar
RAPH1_chr2_203428682_203540301	203529005	A A	ATATATAT others(17): Show ATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0288 a0001c0003t0006g0288	1	290	0.0035	24	c.-1+ others(39): Show c.-1+6105_-1+6106insAAAAAAAAAAAAAATATATATATA	RAPH1	ENSG00000173166.18	transcript	ENST00000319170.10	protein_coding	1/13			chr2	TogoVar
RARA_chr17_40304180_40362643	40315130	G G	GTATATGT others(17): Show GTATATGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	286	0.0035	24	c.-36 others(43): Show c.-363+5845_-363+5846insATATGTATATATATATATATATAT	RARA	ENSG00000131759.18	transcript	ENST00000254066.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
RARB_chr3_25423263_25602932	25494250	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03579.hp2 HG02717.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0273 a0001c0001t0002g0076 a0001c0001t0001g0273 a0001c0001t0002g0076	2	290	0.0069	24	c.307 others(41): Show c.307-6930_307-6929insACACACACACACACACACACACAC	RARB	ENSG00000077092.20	transcript	ENST00000330688.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
RARB_chr3_25423263_25602932	25494250	T T	TACACACA others(17): Show TACACACACACGCACACACACACAC	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18990.hp2 HG03017.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0072 a0001c0001t0002g0164 a0001c0001t0001g0072 a0001c0001t0002g0164	2	290	0.0069	24	c.307 others(41): Show c.307-6930_307-6929insACACACACGCACACACACACACAC	RARB	ENSG00000077092.20	transcript	ENST00000330688.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
RARB_chr3_25423263_25602932	25494251	A A	ACACACAC others(17): Show ACACACACACGCACGCGCGCGCACT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02647.hp2 HG02055.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0256 a0001c0001t0001g0101 a0001c0001t0001g0256	2	290	0.0069	24	c.307 others(41): Show c.307-6930_307-6929insACACACACGCACGCGCGCGCACTC	RARB	ENSG00000077092.20	transcript	ENST00000330688.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
RARB_chr3_25423263_25602932	25513661	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01168.hp2 HG01169.hp1 others(8): Show HG01069.hp2 HG01168.hp2 HG01169.hp1 HG02055.hp2 HG02109.hp2 HG02258.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03516.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0060 others(8): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0060 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0256 a0001c0001t0002g0048 a0001c0001t0002g0159 a0001c0001t0002g0204 a0001c0001t0002g0257 a0001c0001t0005g0050	11	290	0.0379	24	c.448 others(43): Show c.448+12340_448+12363dupCACACACACACACACACACACACA	RARB	ENSG00000077092.20	transcript	ENST00000330688.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
RARRES1_chr3_158691892_158737457	158720271	T T	TATGTGTG others(17): Show TATGTGTGTGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0009 a0003c0004t0009	a0003c0004t0009g0141 a0003c0004t0009g0141	1	380	0.0026	24	c.277 others(41): Show c.277-6413_277-6412insTCTCTCTCTCTCTCTCACACACAT	RARRES1	ENSG00000118849.10	transcript	ENST00000237696.10	protein_coding	1/5			chr3	TogoVar
RARRES1_chr3_158691892_158737457	158720273	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTATGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0316 a0005c0016t0001g0316	1	380	0.0026	24	c.277 others(41): Show c.277-6415_277-6414insTCACACACATACACACACACACAC	RARRES1	ENSG00000118849.10	transcript	ENST00000237696.10	protein_coding	1/5			chr3	TogoVar
RARS1_chr5_168481471_168524301	168518071	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02280.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0191 a0001c0001t0001g0197	2	394	0.0051	24	c.187 others(39): Show c.1873+10_1873+33dupTTTTTTTTTTTTTTTTTTTTTTTT	RARS1	ENSG00000113643.9	transcript	ENST00000231572.8	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
RARS2_chr6_87508938_87594987	87513262	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0357 a0001c0001t0005g0357	1	382	0.0026	24	c.11 others(35): Show c.1150_*1151insACACACACACACACACACACACAC	RARS2	ENSG00000146282.19	transcript	ENST00000369536.10	protein_coding		675		chr6	TogoVar
RARS2_chr6_87508938_87594987	87513263	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01123.hp2 HG01516.hp2 others(7): Show HG00741.hp2 HG01123.hp2 HG01516.hp2 HG01517.hp2 HG02109.hp1 HG02970.hp2 HG03486.hp2 NA18945.hp2 NA18948.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0003 a0001c0002t0010 a0001c0001t0007 a0001c0002t0003 a0001c0002t0010	a0001c0001t0007g0006 a0001c0002t0003g0186 a0001c0002t0003g0187 others(7): Show a0001c0001t0007g0006 a0001c0002t0003g0186 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0190 a0001c0002t0003g0198 a0001c0002t0003g0205 a0001c0002t0003g0206 a0001c0002t0003g0207 a0001c0002t0010g0339	10	382	0.0262	24	c.11 others(35): Show c.1149_*1150insCACACACACACACACACACACACA	RARS2	ENSG00000146282.19	transcript	ENST00000369536.10	protein_coding		674		chr6	TogoVar
RARS2_chr6_87508938_87594987	87513277	G G	GTGTGTGT others(17): Show GTGTGTGTGTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0133 a0002c0003t0004g0133	1	382	0.0026	24	c.11 others(35): Show c.1135_*1136insTATATATATATATATACACACACA	RARS2	ENSG00000146282.19	transcript	ENST00000369536.10	protein_coding		660		chr6	TogoVar
RARS2_chr6_87508938_87594987	87513277	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0147 a0002c0003t0004g0147	1	382	0.0026	24	c.11 others(35): Show c.1135_*1136insTATATATATATATACACACACACA	RARS2	ENSG00000146282.19	transcript	ENST00000369536.10	protein_coding		660		chr6	TogoVar
RARS2_chr6_87508938_87594987	87513277	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 NA18522.hp1 HG02615.hp2 NA18522.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0152 a0002c0003t0006g0369 a0002c0003t0006g0152 a0002c0003t0006g0369	2	382	0.0052	24	c.11 others(35): Show c.1135_*1136insTATATATATATACACACACACACA	RARS2	ENSG00000146282.19	transcript	ENST00000369536.10	protein_coding		660		chr6	TogoVar
RARS2_chr6_87508938_87594987	87513277	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0365 a0002c0003t0006g0365	1	382	0.0026	24	c.11 others(35): Show c.1135_*1136insTATATATATACACACACACACACA	RARS2	ENSG00000146282.19	transcript	ENST00000369536.10	protein_coding		660		chr6	TogoVar
RARS2_chr6_87508938_87594987	87513277	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0367 a0002c0003t0011g0367	1	382	0.0026	24	c.11 others(35): Show c.1135_*1136insTATATATACACACACACACACACA	RARS2	ENSG00000146282.19	transcript	ENST00000369536.10	protein_coding		660		chr6	TogoVar
RARS2_chr6_87508938_87594987	87539058	G G	GAATAAAT others(17): Show GAATAAATGAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0359 a0001c0001t0005g0359	1	382	0.0026	24	c.612 others(41): Show c.612+2859_612+2860insTATTTATTTATTTATTCATTTATT	RARS2	ENSG00000146282.19	transcript	ENST00000369536.10	protein_coding	8/19			chr6	TogoVar

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