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
RAB2B_chr14_21454020_21481959	21454162	A A	AAAAAGAA others(23): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0167 a0001c0001t0011g0167	1	82	0.0122	30	c.70 others(41): Show c.7004_*7033dupCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	RAB2B	ENSG00000129472.15	transcript	ENST00000397762.6	protein_coding		4857		chr14	TogoVar
RAB3C_chr5_58578075_58864394	58693347	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02486.hp1 HG02615.hp1 HG01109.hp2 HG02486.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0034 a0001c0001t0006 a0001c0001t0034	a0001c0001t0006g0052 a0001c0001t0006g0173 a0001c0001t0034g0105 a0001c0001t0006g0052 a0001c0001t0006g0173 a0001c0001t0034g0105	3	214	0.0140	30	c.253 others(49): Show c.253-32640_253-32639insTATATATATATACACATATATATATA TATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58693353	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0129 a0001c0001t0051g0129	1	213	0.0047	30	c.253 others(49): Show c.253-32640_253-32639insTATATATATATATATATACACATATA TATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58693353	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0200 a0001c0001t0023g0200	1	213	0.0047	30	c.253 others(49): Show c.253-32640_253-32639insTATATATATATATATATATACATATA TATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58845612	A A	ATATATAT others(23): Show ATATATATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03139.hp2 HG00735.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0018 a0001c0001t0004 a0001c0001t0018	a0001c0001t0004g0188 a0001c0001t0018g0208 a0001c0001t0004g0188 a0001c0001t0018g0208	2	122	0.0164	30	c.497 others(47): Show c.497-5551_497-5550insATATATATATATATATATGTGTGTGTGT GT	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58845612	A A	ATATATAT others(23): Show ATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp2 HG03225.hp2 HG02615.hp2 HG02622.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0045 a0001c0001t0052 a0001c0001t0002 a0001c0001t0045 a0001c0001t0052	a0001c0001t0002g0002 a0001c0001t0045g0133 a0001c0001t0052g0127 a0001c0001t0002g0002 a0001c0001t0045g0133 a0001c0001t0052g0127	3	123	0.0244	30	c.497 others(47): Show c.497-5551_497-5550insATATATATATATATATGTGTGTGTGTGT GT	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3GAP1_chr2_135047292_135175710	135048373	A A	ACACACTC others(23): Show ACACACTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0005 a0008c0013t0005	a0008c0013t0005g0004 a0008c0013t0005g0004	1	4	0.2500	30	c.-39 others(41): Show c.-3935_-3934insCACACTCTCTCTCTCTCTCTCTCTCTCTCT	RAB3GAP1	ENSG00000115839.19	transcript	ENST00000264158.13	protein_coding		3918		chr2	TogoVar
RAB3GAP1_chr2_135047292_135175710	135117504	T T	TCTTCTTC others(23): Show TCTTCTTCTGCTTCTGCTTCTTCTGCTTCTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0231	1	271	0.0037	30	c.648 others(47): Show c.648+2137_648+2138insGCTTCTTCTGCTTCTGCTTCTTCTGCTT CT	RAB3GAP1	ENSG00000115839.19	transcript	ENST00000264158.13	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB3IP_chr12_69733860_69828199	69817653	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0141 a0002c0004t0141	a0002c0004t0141g0265 a0002c0004t0141g0265	1	25	0.0400	30	c.22 others(41): Show c.2212_*2241dupACACACACACACACACACACACACACACAC	RAB3IP	ENSG00000127328.22	transcript	ENST00000247833.12	protein_coding	11/11	2242	INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB40C_chr16_585066_634268	601815	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01975.hp2 HG00639.hp1 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0331 a0001c0001t0002g0253 a0001c0001t0002g0331	2	141	0.0142	30	c.142 others(49): Show c.142+11383_142+11412dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB5B_chr12_55969078_56001683	55996003	A A	ATATATAT others(23): Show ATATATATATATTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0105 a0001c0001t0084g0105	1	188	0.0053	30	c.37 others(41): Show c.3792_*3793insATATATATATTTTTTTTTTTTTTTTTTTTT	RAB5B	ENSG00000111540.16	transcript	ENST00000360299.10	protein_coding	6/6	3793	INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG02074.hp2 others(1): Show HG00099.hp2 HG00558.hp1 HG02074.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0205 a0001c0001t0001g0231 others(1): Show a0001c0001t0001g0055 a0001c0001t0001g0205 a0001c0001t0001g0231 a0001c0001t0001g0253	4	103	0.0388	30	c.219 others(45): Show c.219-436_219-407dupACACACACACACACACACACACACACACAC	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACATACA others(23): Show TACATACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	100	0.0100	30	c.219 others(45): Show c.219-442_219-441insTACACACACACACACACACACACACACACA	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACATACA others(23): Show TACATACATACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01169.hp1 HG03041.hp2 HG00323.hp1 HG01169.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0028 a0001c0001t0001g0094 a0001c0001t0003g0028 a0001c0001t0001g0028 a0001c0001t0001g0094 a0001c0001t0003g0028	3	102	0.0294	30	c.219 others(45): Show c.219-442_219-441insTACATACACACACACACACACACACACACA	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACATACA others(23): Show TACATACATACATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18963.hp2 NA18522.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0156 a0001c0001t0001g0059 a0001c0001t0001g0156	2	101	0.0198	30	c.219 others(45): Show c.219-442_219-441insTACATACATACACACACACACACACACACA	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACATACA others(23): Show TACATACATACATATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01975.hp2 HG02027.hp1 others(11): Show HG01358.hp1 HG01975.hp2 HG02027.hp1 HG02071.hp1 HG02148.hp2 HG02273.hp1 HG02717.hp1 HG03669.hp2 NA18522.hp2 NA18612.hp1 NA18957.hp2 NA18987.hp2 NA19009.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0004 a0001c0001t0001g0081 a0001c0001t0001g0175 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0081 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0203 a0001c0001t0005g0062	14	113	0.1239	30	c.219 others(45): Show c.219-442_219-441insTACATACATATACACACACACACACACACA	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609256	C C	CACACACA others(23): Show CACACACACACACACACACACACACACACTA	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18962.hp2 HG04184.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0056 a0001c0001t0002g0002 a0001c0001t0001g0056 a0001c0001t0002g0002	2	380	0.0053	30	c.219 others(45): Show c.219-345_219-344insACACACACACACACACACACACACACACTA	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3			chr20	TogoVar
RAB6A_chr11_73670638_73766074	73685588	G G	GAAAGTCT others(23): Show GAAAGTCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01256.hp1 HG01496.hp1 others(10): Show HG00323.hp1 HG01256.hp1 HG01496.hp1 HG01515.hp1 HG02523.hp2 HG02895.hp1 HG02897.hp1 NA18974.hp1 NA18979.hp2 NA18994.hp2 NA19004.hp1 NA19070.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0178 others(10): Show a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0194 a0001c0001t0001g0206 a0001c0001t0001g0214 a0001c0001t0002g0273 a0001c0001t0002g0278 a0001c0001t0002g0280 a0001c0001t0006g0160 a0001c0001t0006g0161 a0001c0001t0008g0125	13	36	0.3611	30	c.496 others(47): Show c.496-5869_496-5868insAAAAAAAAAAAAAAAAAAAAAAAAGACT TT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	6/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73722305	G G	GTATGTGT others(23): Show GTATGTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03195.hp1 HG02965.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0003 a0001c0001t0009g0005 a0001c0001t0009g0003 a0001c0001t0009g0005	2	325	0.0062	30	c.130 others(47): Show c.130-1407_130-1406insTATATATATATATATACACACACACACA TA	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	2/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73722305	G G	GTATGTGT others(23): Show GTATGTGTGTGTGTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0007 a0001c0001t0009g0007	1	324	0.0031	30	c.130 others(47): Show c.130-1407_130-1406insTATATATATACACACACACACACACACA TA	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	2/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	55	0.0182	30	c.71- others(45): Show c.71-8462_71-8461insATATATATATATATATATATATATATTTTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739304	T T	TATATATA others(23): Show TATATATATACACATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	204	0.0049	30	c.71- others(45): Show c.71-8482_71-8481insTTATATATATATATATATGTGTATATATAT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739304	T T	TATATATA others(23): Show TATATATATATACATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	204	0.0049	30	c.71- others(45): Show c.71-8482_71-8481insTTATATATATATATATATGTATATATATAT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739304	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03834.hp1 NA18951.hp1 others(5): Show HG01358.hp1 HG03834.hp1 NA18951.hp1 NA18968.hp2 NA18970.hp2 NA18975.hp1 NA18994.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0123 others(5): Show a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0123 a0001c0001t0001g0166 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0199 a0001c0001t0001g0211	8	211	0.0379	30	c.71- others(45): Show c.71-8482_71-8481insTTATATATATATATATATATATATATATAT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB7A_chr3_128721183_128819798	128809936	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02897.hp2 HG03139.hp2 others(1): Show HG02056.hp1 HG02897.hp2 HG03139.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0147 a0001c0001t0001g0229 a0001c0001t0002g0063 others(1): Show a0001c0001t0001g0147 a0001c0001t0001g0229 a0001c0001t0002g0063 a0001c0001t0003g0123	4	43	0.0930	30	c.528 others(47): Show c.528+2266_528+2295dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RABEP1_chr17_5277284_5391340	5310301	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0347 a0001c0012t0002g0347	1	65	0.0154	30	c.163 others(47): Show c.163+1497_163+1498insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
RABEP2_chr16_28899421_28930238	28929885	T T	TAGAGAGA others(23): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	197	0.0051	30	c.-47 others(41): Show c.-4723_-4722insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding		4648		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929891	T T	TAGAGAGA others(23): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	107	0.0093	30	c.-47 others(41): Show c.-4729_-4728insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding		4654		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929893	T T	TAGAGAGA others(23): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	36	0.0278	30	c.-47 others(41): Show c.-4760_-4731dupCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding		4656		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929893	T T	TATAGAGA others(23): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	36	0.0278	30	c.-47 others(41): Show c.-4731_-4730insCTCTCTCTCTCTCTCTCTCTCTCTCTCTAT	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding		4656		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929893	T T	TATATAGA others(23): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0264 a0002c0002t0001g0264	1	36	0.0278	30	c.-47 others(41): Show c.-4731_-4730insCTCTCTCTCTCTCTCTCTCTCTCTCTATAT	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding		4656		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929893	T T	TATATATA others(23): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0267 a0002c0002t0001g0267	1	36	0.0278	30	c.-47 others(41): Show c.-4731_-4730insCTCTCTCTCTCTCTCTCTCTCTCTATATAT	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding		4656		chr16	TogoVar
RABGAP1L_chr1_174154520_175000308	174327990	T T	TATATATA others(23): Show TATATATACATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03540.hp1 HG02970.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0204 a0001c0001t0010g0211 a0001c0001t0010g0204 a0001c0001t0010g0211	2	255	0.0078	30	c.146 others(51): Show c.1465+22870_1465+22871insCATATATATATATATATATACACA TATATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174327992	T T	TATATACA others(23): Show TATATACATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0203 a0001c0001t0010g0203	1	262	0.0038	30	c.146 others(51): Show c.1465+22870_1465+22871insCATATATATATATATATATATACA CATATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174327994	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0210 a0001c0002t0003g0210	1	265	0.0038	30	c.146 others(51): Show c.1465+22892_1465+22893insCACACATATATATATATATATATA TATATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174327994	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0194 a0001c0002t0003g0194	1	265	0.0038	30	c.146 others(51): Show c.1465+22894_1465+22895insCACATATATATATATATATATATA TATATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174364243	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0174 a0001c0002t0003g0174	1	91	0.0110	30	c.146 others(49): Show c.1466-6707_1466-6706insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174416035	T T	TATATATA others(23): Show TATATATATATATATATATACACACATATAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp1 HG03471.hp2 HG01069.hp1 HG01243.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0154 a0001c0001t0014g0155 a0001c0001t0014g0156 a0001c0001t0014g0154 a0001c0001t0014g0155 a0001c0001t0014g0156	3	179	0.0168	30	c.171 others(51): Show c.1710+21891_1710+21892insTATATATATATATATATACACACA TATACA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174416035	T T	TATATATA others(23): Show TATATATATATATATATATATACACATATAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01192.hp2 HG01256.hp1 others(9): Show HG01123.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01517.hp2 HG01934.hp1 HG01978.hp2 HG02293.hp1 HG03516.hp1 NA18957.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0092 others(9): Show a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0131 a0001c0001t0002g0136	12	188	0.0638	30	c.171 others(51): Show c.1710+21891_1710+21892insTATATATATATATATATATACACA TATACA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174438744	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0024 a0001c0002t0003g0024	1	61	0.0164	30	c.171 others(51): Show c.1710+44603_1710+44632dupATATATATATATATATATATATAT ATATAT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174550983	C C	CATATATA others(23): Show CATATATATATACATATGTATATATACATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0140 a0001c0001t0005g0140	1	208	0.0048	30	c.171 others(51): Show c.1711-86381_1711-86380insCATATGTATATATACATATATATA TATATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174763650	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0239 a0001c0001t0004g0239	1	44	0.0227	30	c.221 others(51): Show c.2211+11305_2211+11334dupAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174937619	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02109.hp2 others(1): Show HG01070.hp1 HG01071.hp1 HG02109.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0005 a0001c0001t0007 a0002c0003t0025 a0001c0001t0005 a0001c0001t0007 a0002c0003t0025	a0001c0001t0005g0001 a0001c0001t0007g0216 a0001c0001t0007g0219 others(1): Show a0001c0001t0005g0001 a0001c0001t0007g0216 a0001c0001t0007g0219 a0002c0003t0025g0082	4	196	0.0204	30	c.234 others(51): Show c.2341-19822_2341-19821insATATATATATATATATATATATAT ATATAT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAC2_chr22_37220270_37249269	37245780	A A	AAATAATA others(23): Show AAATAATAATAATAATAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG03139.hp1 HG03453.hp1 others(1): Show HG02896.hp1 HG03139.hp1 HG03453.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0007 a0001c0002t0003 a0001c0002t0007	a0001c0002t0003g0005 a0001c0002t0007g0187 a0001c0002t0003g0005 a0001c0002t0007g0187	4	230	0.0174	30	c.-16 others(41): Show c.-1633_-1632insATTATTATTATTATTATTATTATTATTATT	RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding		1512		chr22	TogoVar
RACGAP1_chr12_49984162_50030494	49991457	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	228	0.0044	30	c.171 others(47): Show c.1714+540_1714+541insTATATATATATATATATATATATATATA TA	RACGAP1	ENSG00000161800.13	transcript	ENST00000312377.10	protein_coding	15/16			chr12	TogoVar
RACGAP1_chr12_49984162_50030494	49991479	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0046 a0002c0003t0001g0046	1	152	0.0066	30	c.171 others(47): Show c.1714+518_1714+519insAAAAAAAAAATATATATATATATATATA TA	RACGAP1	ENSG00000161800.13	transcript	ENST00000312377.10	protein_coding	15/16			chr12	TogoVar
RACGAP1_chr12_49984162_50030494	49991479	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0047 a0002c0003t0001g0047	1	152	0.0066	30	c.171 others(47): Show c.1714+518_1714+519insAAAAAAAAAAAATATATATATATATATA TA	RACGAP1	ENSG00000161800.13	transcript	ENST00000312377.10	protein_coding	15/16			chr12	TogoVar
RAD18_chr3_8872075_8968472	8967240	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG03486.hp1 HG03540.hp2 HG02280.hp1 HG03486.hp1 HG03540.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0014 a0001c0001 a0011c0014	a0001c0001t0006 a0011c0014t0003 a0001c0001t0006 a0011c0014t0003	a0001c0001t0006g0252 a0001c0001t0006g0258 a0011c0014t0003g0253 a0001c0001t0006g0252 a0001c0001t0006g0258 a0011c0014t0003g0253	3	100	0.0300	30	c.-38 others(41): Show c.-3856_-3855insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RAD18	ENSG00000070950.10	transcript	ENST00000264926.7	protein_coding		3769		chr3	TogoVar
RAD21L1_chr20_1221044_1260876	1221366	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG02896.hp1 others(1): Show HG02145.hp2 HG02258.hp2 HG02896.hp1 HG03486.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0004 a0005c0006 a0002c0002 a0003c0004 a0005c0006	a0002c0002t0005 a0003c0004t0003 a0005c0006t0003 a0002c0002t0005 a0003c0004t0003 a0005c0006t0003	a0002c0002t0005g0007 a0003c0004t0003g0034 a0005c0006t0003g0031 a0002c0002t0005g0007 a0003c0004t0003g0034 a0005c0006t0003g0031	4	145	0.0276	30	c.-48 others(41): Show c.-4807_-4806insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding		4677		chr20	TogoVar
RAD51B_chr14_67814779_68483093	67818085	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTGTTTGTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	54	0.0185	30	c.-17 others(41): Show c.-1771_-1770insTTTTTTTTTTTTGTTTGTTTTTTTTTTTTT	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding		1693		chr14	TogoVar

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