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
RNASE2_chr14_20950487_20961436	20951885	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18950.hp2 NA18957.hp2 others(3): Show NA18945.hp1 NA18950.hp2 NA18957.hp2 NA18960.hp1 NA18973.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	6	147	0.0408	32	c.-36 others(43): Show c.-3657_-3656insAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3601		chr14	TogoVar
RNASE2_chr14_20950487_20961436	20951885	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	142	0.0070	32	c.-36 others(43): Show c.-3657_-3656insAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGG	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3601		chr14	TogoVar
RNASE2_chr14_20950487_20961436	20951885	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	142	0.0070	32	c.-36 others(43): Show c.-3657_-3656insAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGG	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3601		chr14	TogoVar
RNASE2_chr14_20950487_20961436	20951885	A A	AAAGAAAG others(25): Show AAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	142	0.0070	32	c.-36 others(43): Show c.-3657_-3656insAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGG	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3601		chr14	TogoVar
RNASE2_chr14_20950487_20961436	20951921	G G	GAAGGAAG others(25): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	206	0.0049	32	c.-36 others(43): Show c.-3621_-3620insAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGA	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3565		chr14	TogoVar
RNASE8_chr14_21052822_21063455	21057618	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG00735.hp2 others(5): Show HG00140.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01257.hp2 HG02280.hp2 HG02451.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	8	108	0.0741	32	c.-27 others(41): Show c.-275_-274insATATATATATATATATATATATATATATATAT	RNASE8	ENSG00000173431.2	transcript	ENST00000308227.2	protein_coding		203		chr14	TogoVar
RNASE8_chr14_21052822_21063455	21062708	A A	AGTGTGTG others(25): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 NA18974.hp1 NA18978.hp2 others(1): Show HG02165.hp2 NA18974.hp1 NA18978.hp2 NA19079.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0000 a0005c0006t0001g0000 a0001c0001t0001g0000 a0005c0006t0001g0000	4	63	0.0635	32	c.43 others(43): Show c.4351_*4352insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	RNASE8	ENSG00000173431.2	transcript	ENST00000308227.2	protein_coding		4254		chr14	TogoVar
RNASEH1_chr2_3536430_3563333	3540233	T T	TATATCAT others(25): Show TATATCATTGTTAAGTTTCTAAAGATATAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0166 a0001c0001t0059g0166	1	406	0.0025	32	c.55 others(43): Show c.5551_*5552insTTTTTATATCTTTAGAAACTTAACAATGATAT	RNASEH1	ENSG00000171865.10	transcript	ENST00000315212.4	protein_coding		1196		chr2	TogoVar
RND3_chr2_150463195_150492667	150487474	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	99	0.0101	32	c.-38 others(45): Show c.-38-20_-38-19insATATATATATATATATATATATATATATATTT	RND3	ENSG00000115963.14	transcript	ENST00000263895.9	protein_coding	1/5			chr2	TogoVar
RNF11_chr1_51231273_51278447	51234283	T T	TTCTTTTT others(25): Show TTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02486.hp1 HG02965.hp2 others(3): Show HG02132.hp2 HG02486.hp1 HG02965.hp2 HG03130.hp2 HG03139.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011	a0001c0001t0003g0112 a0001c0001t0004g0017 a0001c0001t0008g0005 others(1): Show a0001c0001t0003g0112 a0001c0001t0004g0017 a0001c0001t0008g0005 a0001c0001t0011g0042	6	205	0.0293	32	c.-24 others(43): Show c.-2474_-2473insTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	RNF11	ENSG00000123091.5	transcript	ENST00000242719.4	protein_coding		1989		chr1	TogoVar
RNF121_chr11_71924046_72002597	71942803	T T	TATATATA others(25): Show TATATATAGATATAGATATATATATGTACACAA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0221 a0001c0002t0006g0221	1	40	0.0250	32	c.63+ others(49): Show c.63+13680_63+13681insTATATAGATATAGATATATATATGTACA CAAA	RNF121	ENSG00000137522.18	transcript	ENST00000361756.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RNF121_chr11_71924046_72002597	71942803	T T	TATATATA others(25): Show TATATATATATATAGATATATATATGTACACAA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0234 a0001c0002t0006g0234	1	40	0.0250	32	c.63+ others(49): Show c.63+13680_63+13681insTATATATATATAGATATATATATGTACA CAAA	RNF121	ENSG00000137522.18	transcript	ENST00000361756.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RNF126_chr19_642526_668214	646389	C C	CTTCCAAC others(25): Show CTTCCAACAGGAAAACGGCTCGAAGCTCTGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0063 a0001c0001t0005g0063	1	432	0.0023	32	c.17 others(43): Show c.1738_*1739insAGACAGAGCTTCGAGCCGTTTTCCTGTTGGAA	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		1136		chr19	TogoVar
RNF126_chr19_642526_668214	667346	G G	GTCCCAGG others(25): Show GTCCCAGGCGGACCAAGCCCAGGCGGACCACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG02148.hp1 NA18952.hp2 HG00735.hp1 HG02148.hp1 NA18952.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0252 a0001c0002t0001g0276 a0002c0003t0001g0216 a0001c0002t0001g0252 a0001c0002t0001g0276 a0002c0003t0001g0216	3	419	0.0072	32	c.-42 others(43): Show c.-4226_-4225insACGTGGTCCGCCTGGGCTTGGTCCGCCTGGGA	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		4133		chr19	TogoVar
RNF126_chr19_642526_668214	667393	G G	GTCCCAGG others(25): Show GTCCCAGGCGGACCAAGCCCAGGTGGACCACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG03225.hp1 HG03579.hp1 HG02257.hp2 HG03225.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0003 a0002c0005t0001 a0001c0002t0003 a0002c0005t0001	a0001c0002t0003g0380 a0001c0002t0003g0406 a0002c0005t0001g0059 a0001c0002t0003g0380 a0001c0002t0003g0406 a0002c0005t0001g0059	3	330	0.0091	32	c.-42 others(43): Show c.-4273_-4272insACGTGGTCCACCTGGGCTTGGTCCGCCTGGGA	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		4180		chr19	TogoVar
RNF126_chr19_642526_668214	667440	G G	GTCCCAGG others(25): Show GTCCCAGGCGGACCAAGCCCAGGCGGACCACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	324	0.0031	32	c.-43 others(43): Show c.-4320_-4319insACGTGGTCCGCCTGGGCTTGGTCCGCCTGGGA	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		4227		chr19	TogoVar
RNF130_chr5_179950067_180076759	179998857	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18939.hp1 HG00408.hp2 NA18939.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0154 a0001c0003t0001g0180 a0001c0003t0001g0154 a0001c0003t0001g0180	2	229	0.0087	32	c.693 others(51): Show c.693+14203_693+14204insTATATATATATATATATATATATATA TATATA	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	3/8			chr5	TogoVar
RNF139_chr8_124469880_124493618	124482958	A A	AATATATA others(25): Show AATATATATATATTATTTAAATATATATATATT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	317	0.0032	32	c.182 others(49): Show c.182-2872_182-2841dupATATATATATATTATTTAAATATATATA TATT	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF141_chr11_10506673_10546187	10539691	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18952.hp2 NA18986.hp1 others(2): Show NA18940.hp2 NA18952.hp2 NA18986.hp1 NA19006.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0020 a0001c0001t0002g0257 a0001c0001t0003g0256 a0001c0001t0002g0020 a0001c0001t0002g0257 a0001c0001t0003g0256	5	22	0.2273	32	c.-48 others(49): Show c.-48+1430_-48+1431insATATATATATATATATATATATATATAT ATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF150_chr4_140854807_141138469	140899974	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0030 a0001c0001t0012g0030	1	123	0.0081	32	c.119 others(53): Show c.1198+11169_1198+11170insCAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	6/6			chr4	TogoVar
RNF157_chr17_76137474_76245493	76182760	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02818.hp1 HG02965.hp2 others(2): Show HG01884.hp1 HG02818.hp1 HG02965.hp2 HG03209.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0006t0007	a0001c0001t0001g0148 a0001c0001t0002g0149 a0001c0001t0003g0124 others(2): Show a0001c0001t0001g0148 a0001c0001t0002g0149 a0001c0001t0003g0124 a0001c0006t0007g0014 a0001c0006t0007g0016	5	99	0.0505	32	c.208 others(49): Show c.208-8971_208-8970insATATATATATATATATATATATATATAT ATAT	RNF157	ENSG00000141576.16	transcript	ENST00000269391.11	protein_coding	2/18			chr17	TogoVar
RNF17_chr13_24759169_24884921	24797705	A A	AGTGTGTG others(25): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0340 a0002c0003t0001g0340	1	97	0.0103	32	c.139 others(51): Show c.1399+1419_1399+1450dupGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding	11/35		INFO_REALIGN_3_PRIME	chr13	TogoVar
RNF17_chr13_24759169_24884921	24797705	A A	AGTTTGTG others(25): Show AGTTTGTGTGTCTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18970.hp2 NA19057.hp1 HG06807.hp2 NA18970.hp2 NA19057.hp1	a0003 a0005 a0003 a0005	a0003c0007 a0005c0005 a0003c0007 a0005c0005	a0003c0007t0001 a0005c0005t0001 a0003c0007t0001 a0005c0005t0001	a0003c0007t0001g0006 a0005c0005t0001g0096 a0005c0005t0001g0397 a0003c0007t0001g0006 a0005c0005t0001g0096 a0005c0005t0001g0397	3	99	0.0303	32	c.139 others(51): Show c.1399+1412_1399+1413insTTGTGTGTCTGTGTGTGTGTGTGTGT GTGTGT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding	11/35		INFO_REALIGN_3_PRIME	chr13	TogoVar
RNF17_chr13_24759169_24884921	24882089	T T	TATAGATA others(25): Show TATAGATACATCTATATAGATACATCTATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA19086.hp1 NA18995.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0260 a0001c0001t0001g0255 a0001c0001t0001g0260	2	190	0.0105	32	c.23 others(43): Show c.2363_*2364insATAGATACATCTATATAGATACATCTATATAG	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2169		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882151	G G	GATACATC others(25): Show GATACATCTATATAGATATATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG03130.hp1 HG02970.hp2 HG03130.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0002 a0010c0015t0002	a0010c0015t0002g0003 a0010c0015t0002g0003	2	73	0.0274	32	c.24 others(43): Show c.2425_*2426insATACATCTATATAGATATATAGATACATCTAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2231		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882169	G G	GATACATC others(25): Show GATACATCTATATAGATATATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0002 a0010c0015t0002	a0010c0015t0002g0117 a0010c0015t0002g0117	1	82	0.0122	32	c.24 others(43): Show c.2443_*2444insATACATCTATATAGATATATAGATACATCTAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2249		chr13	TogoVar
RNF180_chr5_64160843_64377869	64192903	G G	GTGTGTGT others(25): Show GTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0061 a0002c0002t0008g0061	1	16	0.0625	32	c.1-7 others(45): Show c.1-7904_1-7903insGTGTGTGTATATATATATATATATATATATAT	RNF180	ENSG00000164197.12	transcript	ENST00000389100.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
RNF183_chr9_113292093_113308376	113308170	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0049 a0001c0001t0017g0049	1	138	0.0072	32	c.-55 others(43): Show c.-5556_-5555insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	RNF183	ENSG00000165188.14	transcript	ENST00000489339.2	protein_coding		4795		chr9	TogoVar
RNF212_chr4_1066478_1118564	1113632	G G	GGATCTCC others(25): Show GGATCTCCCGCCAGCCACCTCCGCCAACCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0356 a0001c0001t0009g0356	1	404	0.0025	32	c.-16 others(41): Show c.-169_-168insGCGCGGTTGGCGGAGGTGGCTGGCGGGAGATC	RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding		69		chr4	TogoVar
RNF213_chr17_80255852_80403794	80281104	T T	TACCCCAC others(25): Show TACCCCACTCACACCACTCACACACACCCCCAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03453.hp1 HG03516.hp1 HG02258.hp1 HG03453.hp1 HG03516.hp1	a0026 a0081 a0026 a0081	a0026c0034 a0081c0116 a0026c0034 a0081c0116	a0026c0034t0003 a0081c0116t0009 a0026c0034t0003 a0081c0116t0009	a0026c0034t0003g0237 a0026c0034t0003g0239 a0081c0116t0009g0238 a0026c0034t0003g0237 a0026c0034t0003g0239 a0081c0116t0009g0238	3	290	0.0103	32	c.262 others(49): Show c.262-6676_262-6645dupCCCACTCACACCACTCACACACACCCCC ACAC	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80286479	G G	GTCATGCC others(25): Show GTCATGCCCTGGGTGGGTGGGAACGCAGCCTCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0036 a0036	a0036c0143 a0036c0143	a0036c0143t0011 a0036c0143t0011	a0036c0143t0011g0176 a0036c0143t0011g0176	1	289	0.0035	32	c.262 others(49): Show c.262-1333_262-1302dupATGCCCTGGGTGGGTGGGAACGCAGCCT CCTC	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF216_chr7_5615047_5786663	5768346	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG01123.hp1 others(8): Show HG00140.hp1 HG00642.hp2 HG01123.hp1 HG01192.hp1 HG02148.hp2 HG02293.hp2 HG03669.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0223 others(8): Show a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0235 a0001c0001t0002g0196 a0001c0001t0002g0199 a0001c0001t0002g0260 a0001c0001t0002g0267 a0001c0001t0002g0272 a0001c0001t0004g0236	11	34	0.3235	32	c.-69 others(49): Show c.-69-7240_-69-7209dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	RNF216	ENSG00000011275.19	transcript	ENST00000389902.8	protein_coding	1/16			chr7	TogoVar
RNF24_chr20_3922311_4020558	4008398	G G	GTAATATG others(25): Show GTAATATGTATAATATATATTATATATAATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0034 a0001c0001t0009g0034	1	313	0.0032	32	c.-8+ others(47): Show c.-8+7038_-8+7039insTATATTATATATAATATATATTATACATAT TA	RNF24	ENSG00000101236.17	transcript	ENST00000358395.11	protein_coding	1/5			chr20	TogoVar
RNF24_chr20_3922311_4020558	4008411	T T	TATATATA others(25): Show TATATATATAATATATAATATATAATATGTATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp1 HG03098.hp1 others(1): Show HG01884.hp2 HG02257.hp1 HG03098.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0053 a0001c0001t0099 a0001c0001t0051 a0001c0001t0053 a0001c0001t0099	a0001c0001t0051g0350 a0001c0001t0051g0352 a0001c0001t0053g0012 others(1): Show a0001c0001t0051g0350 a0001c0001t0051g0352 a0001c0001t0053g0012 a0001c0001t0099g0351	4	360	0.0111	32	c.-8+ others(47): Show c.-8+7025_-8+7026insTATACATATTATATATTATATATTATATAT AT	RNF24	ENSG00000101236.17	transcript	ENST00000358395.11	protein_coding	1/5			chr20	TogoVar
RNF2_chr1_185040558_185107603	185082345	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19082.hp1 HG02486.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0013 a0001c0001t0007 a0001c0001t0013	a0001c0001t0007g0252 a0001c0001t0013g0135 a0001c0001t0007g0252 a0001c0001t0013g0135	2	7	0.2857	32	c.-2- others(47): Show c.-2-5185_-2-5184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF32_chr7_156635774_156682130	156680403	A A	AGAGAGAG others(25): Show AGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG03098.hp1 NA18522.hp1 HG02809.hp2 HG03098.hp1 NA18522.hp1	a0004 a0004	a0004c0005 a0004c0012 a0004c0005 a0004c0012	a0004c0005t0002 a0004c0012t0002 a0004c0005t0002 a0004c0012t0002	a0004c0005t0002g0059 a0004c0005t0002g0265 a0004c0012t0002g0264 a0004c0005t0002g0059 a0004c0005t0002g0265 a0004c0012t0002g0264	3	340	0.0088	32	c.37 others(43): Show c.3748_*3749insGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGT	RNF32	ENSG00000105982.17	transcript	ENST00000317955.10	protein_coding		3274		chr7	TogoVar
RNF32_chr7_156635774_156682130	156680403	A A	AGAGAGAG others(25): Show AGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 NA20300.hp2 HG02970.hp1 NA20300.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0052 a0003c0003t0002g0052	2	339	0.0059	32	c.37 others(43): Show c.3748_*3749insGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGT	RNF32	ENSG00000105982.17	transcript	ENST00000317955.10	protein_coding		3274		chr7	TogoVar
RNF4_chr4_2464106_2520857	2466647	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01516.hp2 HG01517.hp1 others(26): Show HG00639.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01975.hp2 HG02015.hp2 HG02056.hp1 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02257.hp1 HG02559.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02970.hp1 HG02970.hp2 HG03195.hp1 HG03209.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA18953.hp1 NA18966.hp2 NA18968.hp2 NA18995.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0001t0031	a0001c0001t0001g0005 a0001c0001t0001g0150 a0001c0001t0001g0285 others(26): Show a0001c0001t0001g0005 a0001c0001t0001g0150 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0353 a0001c0001t0001g0371 a0001c0001t0002g0172 a0001c0001t0002g0187 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0004g0356 a0001c0001t0005g0012 a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0005g0022 a0001c0001t0009g0220 a0001c0001t0009g0223 a0001c0001t0009g0227 a0001c0001t0009g0232 a0001c0001t0011g0364 a0001c0001t0017g0009 a0001c0001t0031g0228	29	84	0.3452	32	c.-27 others(43): Show c.-2769_-2768insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding		2458		chr4	TogoVar
RNFT2_chr12_116733315_116858631	116794672	A A	AAGGGAGG others(25): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02523.hp2 NA18948.hp2 others(1): Show HG00544.hp1 HG02523.hp2 NA18948.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0007g0087 others(1): Show a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0007g0087 a0001c0001t0007g0174	4	14	0.2857	32	c.882 others(51): Show c.882+15345_882+15346insGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNGTT_chr6_88604897_88968618	88647701	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	106	0.0094	32	c.150 others(53): Show c.1506+30651_1506+30652insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	14/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88647711	A A	AAGAAAAA others(25): Show AAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0124 a0001c0001t0004g0124	1	217	0.0046	32	c.150 others(53): Show c.1506+30641_1506+30642insCTTTTTTTTTTTTTTTTTTTTTTT TTTTTTCT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	14/15			chr6	TogoVar
ROBO1_chr3_78592239_79772998	79757503	C C	CCATATAT others(25): Show CCATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0011 a0003c0006t0006g0011	1	37	0.0270	32	c.-51 others(51): Show c.-51+10248_-51+10249insTATATATATATATATATATATATATA TATATG	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	1/30			chr3	TogoVar
ROBO2_chr3_77035099_77654964	77188968	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01106.hp2 HG01071.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0077 a0001c0001t0005g0043 a0001c0001t0001g0077 a0001c0001t0005g0043	2	97	0.0206	32	c.388 others(51): Show c.388+90629_388+90630insTGTGTGTGTGTGTGTGTGAGAGAGAG AGAGAG	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77277157	C C	CTTCTTTC others(25): Show CTTCTTTCCTTCTTTCCTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	78	0.0128	32	c.388 others(53): Show c.388+178824_388+178825insCTTCTTTCCTTCTTTCTTTCTTTC TTTCTTTC	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77277230	G G	GTCTTTCT others(25): Show GTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03209.hp1 HG02055.hp2 HG03209.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0011 a0004c0010t0033 a0001c0001t0011 a0004c0010t0033	a0001c0001t0011g0047 a0004c0010t0033g0018 a0001c0001t0011g0047 a0004c0010t0033g0018	2	109	0.0183	32	c.388 others(53): Show c.388+178914_388+178915insTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77433486	G G	GTACATAT others(25): Show GTACATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp2 HG03491.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0041 a0001c0001t0006 a0001c0001t0041	a0001c0001t0006g0022 a0001c0001t0041g0054 a0001c0001t0006g0022 a0001c0001t0041g0054	2	24	0.0833	32	c.389 others(51): Show c.389-43926_389-43925insCATATATATATATATATATATATATA TATATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77433486	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0087 a0001c0002t0002g0087	1	23	0.0435	32	c.389 others(51): Show c.389-43926_389-43895dupATATATATATATATATATATATATAT ATATAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK2_chr2_11174759_11349636	11238209	A A	AGTGTGTG others(25): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02809.hp1 HG02922.hp1 HG00609.hp1 HG02809.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0025 a0001c0003t0006 a0002c0002t0014 a0001c0001t0025 a0001c0003t0006 a0002c0002t0014	a0001c0001t0025g0264 a0001c0003t0006g0301 a0002c0002t0014g0075 a0001c0001t0025g0264 a0001c0003t0006g0301 a0002c0002t0014g0075	3	40	0.0750	32	c.463 others(49): Show c.463-2279_463-2248dupACACACACACACACACACACACACACAC ACAC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	4/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(25): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0054 a0002c0002t0003g0054	1	217	0.0046	32	c.142 others(49): Show c.142-8255_142-8254insTCTCCCCTCTCTCTCTCTCTCTCTCTCT CTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGGGAGAG others(25): Show GGGGAGAGGGGGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02109.hp1 HG02572.hp1 others(8): Show HG01515.hp2 HG02109.hp1 HG02572.hp1 HG02735.hp1 HG03831.hp1 NA18947.hp1 NA18969.hp1 NA19010.hp1 NA19012.hp1 NA19079.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0058	a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0192 others(8): Show a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0192 a0001c0001t0001g0219 a0001c0001t0007g0146 a0001c0001t0008g0128 a0001c0001t0016g0205 a0001c0001t0019g0188 a0001c0001t0020g0279 a0001c0001t0022g0166 a0001c0001t0058g0209	11	56	0.1964	32	c.142 others(49): Show c.142-8270_142-8269insTCTCTCTCTCTCTCTCTCTCTCCCCCTC TCCC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar

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