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
RNF17_chr13_24759169_24884921	24882002	A A	ATATAGAT others(21): Show ATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0002 a0002c0027t0002	a0002c0027t0002g0368 a0002c0027t0002g0368	1	424	0.0024	28	c.22 others(39): Show c.2276_*2277insTATAGATACATCTATATATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2082		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882024	A A	ATATAGAT others(21): Show ATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA19000.hp2 NA18991.hp2 NA19000.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0118 a0004c0004t0002g0121 a0004c0004t0002g0118 a0004c0004t0002g0121	2	413	0.0048	28	c.22 others(39): Show c.2298_*2299insTATAGATACATCTATATATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2104		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882028	A A	ATATATAG others(21): Show ATATATAGATACATCTATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	395	0.0025	28	c.23 others(39): Show c.2302_*2303insTATATAGATACATCTATATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2108		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882050	A A	ATATATAG others(21): Show ATATATAGATACATCTATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 NA18951.hp2 NA19060.hp2 HG00673.hp1 NA18951.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0283	3	392	0.0077	28	c.23 others(39): Show c.2324_*2325insTATATAGATACATCTATATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2130		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882213	G G	GATATATA others(21): Show GATATATAGATACATCTATATAGATAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG03130.hp2 HG01123.hp1 HG03130.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0009c0012 a0001c0002 a0009c0012	a0001c0002t0001 a0009c0012t0001 a0001c0002t0001 a0009c0012t0001	a0001c0002t0001g0078 a0009c0012t0001g0322 a0001c0002t0001g0078 a0009c0012t0001g0322	2	184	0.0109	28	c.24 others(39): Show c.2487_*2488insATATATAGATACATCTATATAGATAGAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2293		chr13	TogoVar
RNF180_chr5_64160843_64377869	64192903	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03225.hp2 HG02258.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0077 a0001c0001t0012g0196 a0001c0001t0003g0077 a0001c0001t0012g0196	2	17	0.1176	28	c.1-7 others(41): Show c.1-7896_1-7869dupTATATATATATATATATATATATATATA	RNF180	ENSG00000164197.12	transcript	ENST00000389100.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
RNF180_chr5_64160843_64377869	64192903	G G	GTATGTAT others(21): Show GTATGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0047 a0001c0001t0021g0047	1	16	0.0625	28	c.1-7 others(41): Show c.1-7902_1-7901insGTATATATATATATATATATATATATAT	RNF180	ENSG00000164197.12	transcript	ENST00000389100.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
RNF19A_chr8_100252067_100314953	100256511	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01074.hp2 HG01256.hp1 others(5): Show HG00408.hp2 HG01074.hp2 HG01256.hp1 HG02273.hp2 HG02738.hp2 HG03491.hp2 HG03688.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0010 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0039 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0226	8	127	0.0630	28	c.20 others(39): Show c.2044_*2045insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RNF19A	ENSG00000034677.13	transcript	ENST00000341084.7	protein_coding		555		chr8	TogoVar
RNF212_chr4_1066478_1118564	1113553	G G	GGGCAGCT others(21): Show GGGCAGCTCTGCGCCTGCGCAAAGTCGAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02258.hp1 HG03195.hp2 HG03209.hp1 HG02258.hp1 HG03195.hp2 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0353 a0001c0002t0007g0354 a0001c0002t0007g0355 a0001c0002t0007g0353 a0001c0002t0007g0354 a0001c0002t0007g0355	3	404	0.0074	28	c.-90 others(35): Show c.-90_-89insGTCGACTTTGCGCAGGCGCAGAGCTGCC	RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding	1/10	90		chr4	TogoVar
RNF216_chr7_5615047_5786663	5671805	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0152 a0001c0001t0007g0152	1	89	0.0112	28	c.206 others(49): Show c.2062-19296_2062-19295insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RNF216	ENSG00000011275.19	transcript	ENST00000389902.8	protein_coding	13/16			chr7	TogoVar
RNF216_chr7_5615047_5786663	5768346	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01943.hp2 HG02300.hp1 others(3): Show HG00099.hp2 HG01943.hp2 HG02300.hp1 HG03130.hp1 HG03225.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0018	a0001c0001t0001g0207 a0001c0001t0001g0214 a0001c0001t0001g0233 others(3): Show a0001c0001t0001g0207 a0001c0001t0001g0214 a0001c0001t0001g0233 a0001c0001t0002g0263 a0001c0001t0004g0248 a0001c0001t0018g0202	6	29	0.2069	28	c.-69 others(45): Show c.-69-7236_-69-7209dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	RNF216	ENSG00000011275.19	transcript	ENST00000389902.8	protein_coding	1/16			chr7	TogoVar
RNF223_chr1_1065967_1079306	1077031	G G	GGAGGCTG others(21): Show GGAGGCTGAGTCTATGGGGACTCCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0002 a0010c0010t0002	a0010c0010t0002g0031 a0010c0010t0002g0031	1	276	0.0036	28	c.-30 others(39): Show c.-3026_-3025insGGCACGGAGTCCCCATAGACTCAGCCTC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2726		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077061	G G	GGAGGCTG others(21): Show GGAGGCTGAGTCTATGGGGACTCCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01106.hp2 NA18980.hp1 HG00280.hp1 HG01106.hp2 NA18980.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	3	240	0.0125	28	c.-30 others(39): Show c.-3056_-3055insGGCACGGAGTCCCCATAGACTCAGCCTC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2756		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078169	G G	GGGGGGAG others(21): Show GGGGGGAGGCTGAGGCTATGGGACTCCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	321	0.0031	28	c.-41 others(39): Show c.-4164_-4163insACGGAGTCCCATAGCCTCAGCCTCCCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3864		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078321	G G	GGAGGCTG others(21): Show GGAGGCTGAGGCTATGGGGACTCCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	232	0.0043	28	c.-43 others(39): Show c.-4316_-4315insGGCACGGAGTCCCCATAGCCTCAGCCTC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4016		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078351	G G	GGAGGCTG others(21): Show GGAGGCTGAGGCTATGGGGACTCCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG04115.hp2 HG00423.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	277	0.0072	28	c.-43 others(39): Show c.-4346_-4345insGGCACGGAGTCCCCATAGCCTCAGCCTC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4046		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078381	G G	GGAGGCTG others(21): Show GGAGGCTGAGGCTATGGGGACTCCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG02080.hp2 HG02273.hp1 others(2): Show HG01346.hp1 HG02080.hp2 HG02273.hp1 HG02300.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0001 a0001c0001t0001g0022	5	278	0.0180	28	c.-43 others(39): Show c.-4376_-4375insGGCACGGAGTCCCCATAGCCTCAGCCTC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4076		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078411	G G	GGAGGCTG others(21): Show GGAGGCTGAGGCTATGGGGACTCCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	280	0.0036	28	c.-44 others(39): Show c.-4406_-4405insGGCACGGAGTCCCCATAGCCTCAGCCTC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4106		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078788	G G	GGGGACTC others(21): Show GGGGACTCCGTGGGGGGAGCTGAGGCTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	321	0.0031	28	c.-47 others(39): Show c.-4783_-4782insATAGCCTCAGCTCCCCCCACGGAGTCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4483		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078799	G G	GGGGGAGG others(21): Show GGGGGAGGCTGAGGCTATGGGGACTCCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	322	0.0031	28	c.-47 others(39): Show c.-4794_-4793insACGGAGTCCCCATAGCCTCAGCCTCCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4494		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078919	G G	GGGGGAGG others(21): Show GGGGGAGGCTGAGGCTATGGGGACTCCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	320	0.0031	28	c.-49 others(39): Show c.-4914_-4913insACGGAGTCCCCATAGCCTCAGCCTCCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4614		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078981	G G	GGAGGCTG others(21): Show GGAGGCTGAGGCTATGGGGACTCCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	263	0.0038	28	c.-49 others(39): Show c.-4976_-4975insGGCACGGAGTCCCCATAGCCTCAGCCTC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4676		chr1	TogoVar
RNF223_chr1_1065967_1079306	1079221	G G	GGAGGCTG others(21): Show GGAGGCTGAGGCTATGGGGACTCCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	319	0.0031	28	c.-52 others(39): Show c.-5216_-5215insGGCACGGAGTCCCCATAGCCTCAGCCTC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4916		chr1	TogoVar
RNF24_chr20_3922311_4020558	3966469	A A	AGTGTGTG others(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0024 a0001c0001t0048g0025 a0001c0001t0048g0024 a0001c0001t0048g0025	2	33	0.0606	28	c.-7- others(43): Show c.-7-2473_-7-2446dupACACACACACACACACACACACACACAC	RNF24	ENSG00000101236.17	transcript	ENST00000358395.11	protein_coding	1/5			chr20	TogoVar
RNF2_chr1_185040558_185107603	185082345	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02132.hp2 HG03834.hp2 others(1): Show HG01175.hp1 HG02132.hp2 HG03834.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0096 a0001c0001t0001g0117 a0001c0001t0001g0209 others(1): Show a0001c0001t0001g0096 a0001c0001t0001g0117 a0001c0001t0001g0209 a0001c0001t0004g0221	4	9	0.4444	28	c.-2- others(43): Show c.-2-5185_-2-5184insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF32_chr7_156635774_156682130	156680399	A A	AGTGTGTG others(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG06807.hp2 HG02257.hp2 HG06807.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0007 a0003c0003t0002 a0003c0003t0007	a0003c0003t0002g0189 a0003c0003t0007g0270 a0003c0003t0002g0189 a0003c0003t0007g0270	2	445	0.0045	28	c.37 others(39): Show c.3744_*3745insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	RNF32	ENSG00000105982.17	transcript	ENST00000317955.10	protein_coding		3270		chr7	TogoVar
RNF38_chr9_36331400_36405269	36397021	G G	GTGTATAT others(21): Show GTGTATATACGTATATACGTATATACACA	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA19007.hp1 HG01358.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0214 a0001c0001t0001g0215	2	399	0.0050	28	c.12+ others(43): Show c.12+3075_12+3076insTGTGTATATACGTATATACGTATATACA	RNF38	ENSG00000137075.18	transcript	ENST00000259605.11	protein_coding	1/11			chr9	TogoVar
RNF38_chr9_36331400_36405269	36397021	G G	GTGTATAT others(21): Show GTGTATATACGTATATACGTATATACATA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	398	0.0025	28	c.12+ others(43): Show c.12+3075_12+3076insTATGTATATACGTATATACGTATATACA	RNF38	ENSG00000137075.18	transcript	ENST00000259605.11	protein_coding	1/11			chr9	TogoVar
RNF4_chr4_2464106_2520857	2466647	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01081.hp1 HG01255.hp1 others(36): Show HG00673.hp1 HG01081.hp1 HG01255.hp1 HG01978.hp2 HG02004.hp1 HG02055.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02451.hp2 HG02572.hp2 HG02602.hp2 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03704.hp2 HG04184.hp1 NA18906.hp1 NA18906.hp2 NA18983.hp2 NA19030.hp2 NA19043.hp2 NA19057.hp2 NA19077.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0029 a0001c0002t0003	a0001c0001t0001g0068 a0001c0001t0001g0164 a0001c0001t0001g0214 others(36): Show a0001c0001t0001g0068 a0001c0001t0001g0164 a0001c0001t0001g0214 a0001c0001t0001g0298 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0188 a0001c0001t0002g0202 a0001c0001t0002g0293 a0001c0001t0003g0171 a0001c0001t0003g0224 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0248 a0001c0001t0003g0250 a0001c0001t0003g0257 a0001c0001t0003g0259 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0296 a0001c0001t0005g0297 a0001c0001t0006g0155 a0001c0001t0006g0161 a0001c0001t0006g0162 a0001c0001t0006g0163 a0001c0001t0009g0226 a0001c0001t0009g0256 a0001c0001t0010g0222 a0001c0001t0010g0249 a0001c0001t0011g0365 a0001c0001t0011g0366 a0001c0001t0013g0368 a0001c0001t0015g0351 a0001c0001t0029g0363 a0001c0002t0003g0254 a0001c0002t0003g0255	39	94	0.4149	28	c.-27 others(39): Show c.-2769_-2768insTGTGTGTGTGTGTGTGTGTGTGTGTGTG	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding		2458		chr4	TogoVar
RNF4_chr4_2464106_2520857	2484067	T T	TCCCCCCC others(21): Show TCCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0312 a0001c0005t0001g0312	1	27	0.0370	28	c.-15 others(47): Show c.-157-6262_-157-6261insCCCCCCCCCCCCCCCCCCCCCCCCCC CC	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
RNFT2_chr12_116733315_116858631	116794646	A A	AGGAGGGA others(21): Show AGGAGGGAGGGAGGGAGGGAGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02132.hp2 HG02135.hp2 HG00438.hp1 HG02132.hp2 HG02135.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0002 a0002c0010t0002 a0001c0001t0002 a0002c0010t0002	a0001c0001t0002g0210 a0002c0010t0002g0001 a0002c0010t0002g0002 a0001c0001t0002g0210 a0002c0010t0002g0001 a0002c0010t0002g0002	3	254	0.0118	28	c.882 others(47): Show c.882+15299_882+15300insGAGGGAGGGAGGGAGGGAGGGAGGAA GG	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNFT2_chr12_116733315_116858631	116794668	A A	AAGGGAGG others(21): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03471.hp1 HG02145.hp1 HG03471.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0025 a0001c0007t0047 a0001c0007t0025 a0001c0007t0047	a0001c0007t0025g0057 a0001c0007t0047g0053 a0001c0007t0025g0057 a0001c0007t0047g0053	2	115	0.0174	28	c.882 others(47): Show c.882+15323_882+15324insGAGGGAGGGAGGGAGGGAGGGAGGGA GG	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNFT2_chr12_116733315_116858631	116794672	A A	AAGGGAGG others(21): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02683.hp2 HG03491.hp1 others(8): Show HG02074.hp1 HG02683.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03704.hp2 HG03942.hp1 HG04228.hp1 NA19001.hp1 NA19065.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0048 a0001c0002t0001 a0001c0004t0026	a0001c0001t0001g0171 a0001c0001t0004g0109 a0001c0001t0004g0166 others(8): Show a0001c0001t0001g0171 a0001c0001t0004g0109 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0177 a0001c0001t0004g0185 a0001c0001t0007g0169 a0001c0001t0007g0170 a0001c0001t0048g0241 a0001c0002t0001g0076 a0001c0004t0026g0201	11	21	0.5238	28	c.882 others(47): Show c.882+15345_882+15346insGGGAGGGAGGGAGGGAGGGAGGGAGG GA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNFT2_chr12_116733315_116858631	116841882	A A	AATATATA others(21): Show AATATATATAAAAATATATATATATAAAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0006 a0003c0017t0006	a0003c0017t0006g0056 a0003c0017t0006g0056	1	259	0.0039	28	c.120 others(47): Show c.1200+5640_1200+5667dupAATATATATATATAAATATATATATA AA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNGTT_chr6_88604897_88968618	88647701	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	106	0.0094	28	c.150 others(49): Show c.1506+30651_1506+30652insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	14/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88697928	G G	GATATATA others(21): Show GATATATATATGAAATACATATATATGAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02145.hp1 HG01515.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0131 a0001c0001t0001g0070 a0001c0001t0001g0131	2	217	0.0092	28	c.144 others(49): Show c.1440-19537_1440-19510dupATCATATATATGTATTTCATATAT ATAT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88930153	C C	CATACATA others(21): Show CATACATATATACATATACATATATGTAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA20905.hp1 HG03704.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0167 a0001c0001t0002g0166 a0001c0001t0001g0167 a0001c0001t0002g0166	2	218	0.0092	28	c.175 others(43): Show c.175-914_175-887dupATACATATATGTATATGTATATATGTAT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	2/15			chr6	TogoVar
ROBO1_chr3_78592239_79772998	79550195	G G	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAAAGGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0040 a0003c0006t0006g0040	1	11	0.0909	28	c.88+ others(45): Show c.88+39628_88+39629insTTTCTTTCCTTTCTTTCTTTCTTTCTTT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79771309	C C	CATATGTA others(21): Show CATATGTACATACACACATATACACGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01884.hp2 others(26): Show HG01109.hp1 HG01243.hp1 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02280.hp1 HG02280.hp2 HG02717.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0011 a0002c0004 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0013 a0001c0003t0001 a0001c0003t0006 a0001c0005t0002 a0001c0008t0003 a0001c0011t0001 a0002c0004t0001 a0002c0004t0007 a0003c0006t0006	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(26): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0002g0039 a0001c0001t0003g0036 a0001c0001t0005g0035 a0001c0001t0008g0024 a0001c0001t0011g0025 a0001c0002t0001g0019 a0001c0002t0001g0028 a0001c0002t0003g0016 a0001c0002t0004g0001 a0001c0002t0004g0002 a0001c0002t0004g0017 a0001c0002t0004g0021 a0001c0002t0013g0008 a0001c0003t0001g0023 a0001c0003t0006g0020 a0001c0005t0002g0029 a0001c0005t0002g0030 a0001c0008t0003g0037 a0001c0011t0001g0038 a0002c0004t0001g0015 a0002c0004t0007g0009 a0002c0004t0007g0010 a0003c0006t0006g0011 a0003c0006t0006g0040	29	37	0.7838	28	c.-36 others(39): Show c.-3609_-3608insATGCGTGTATATGTGTGTATGTACATAT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding		3312		chr3	TogoVar
ROBO1_chr3_78592239_79772998	79771580	G G	GCATACAC others(21): Show GCATACACATATACGCATATATACACATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02109.hp1 HG02109.hp2 others(6): Show HG01109.hp1 HG02109.hp1 HG02109.hp2 HG02922.hp1 HG03130.hp1 HG03139.hp1 HG03471.hp1 HG03471.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0011 a0003c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0005t0002 a0001c0008t0003 a0001c0011t0001 a0003c0006t0006	a0001c0001t0002g0039 a0001c0001t0003g0036 a0001c0001t0005g0035 others(6): Show a0001c0001t0002g0039 a0001c0001t0003g0036 a0001c0001t0005g0035 a0001c0002t0001g0028 a0001c0005t0002g0029 a0001c0005t0002g0030 a0001c0008t0003g0037 a0001c0011t0001g0038 a0003c0006t0006g0040	9	44	0.2045	28	c.-38 others(39): Show c.-3880_-3879insTATGTGTATATATGCGTATATGTGTATG	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding		3583		chr3	TogoVar
ROBO2_chr3_77035099_77654964	77188968	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGAGAGAGACAGAGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0088 a0006c0005t0002g0088	1	96	0.0104	28	c.388 others(47): Show c.388+90629_388+90630insTGTGTGTGTGTGTGAGAGAGACAGAG AG	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77230096	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	159	0.0063	28	c.388 others(49): Show c.388+131767_388+131768insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77252831	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0040 a0001c0001t0029 a0001c0001t0040	a0001c0001t0029g0042 a0001c0001t0040g0057 a0001c0001t0029g0042 a0001c0001t0040g0057	2	20	0.1000	28	c.388 others(49): Show c.388+154492_388+154493insAAAATATATATATATATATATATA TATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77252831	A A	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01243.hp2 HG02145.hp1 others(1): Show HG00642.hp1 HG01243.hp2 HG02145.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0001 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0017 a0001c0001t0001g0069 a0001c0001t0005g0129 others(1): Show a0001c0001t0001g0017 a0001c0001t0001g0069 a0001c0001t0005g0129 a0001c0001t0009g0093	4	22	0.1818	28	c.388 others(49): Show c.388+154492_388+154493insAATATATATATATATATATATATA TATA	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(21): Show GTACATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	23	0.0435	28	c.389 others(47): Show c.389-43926_389-43925insCATATATATATATATATATATATATA TA	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(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03195.hp1 NA18522.hp1 others(1): Show HG03139.hp1 HG03195.hp1 NA18522.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0001c0001t0014 a0001c0001t0015 others(1): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0015 a0003c0004t0002	a0001c0001t0003g0048 a0001c0001t0014g0082 a0001c0001t0015g0012 others(1): Show a0001c0001t0003g0048 a0001c0001t0014g0082 a0001c0001t0015g0012 a0003c0004t0002g0141	4	26	0.1538	28	c.389 others(47): Show c.389-43922_389-43895dupATATATATATATATATATATATATAT AT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77598512	C C	CATATATA others(21): Show CATATATATATGTGTATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA21309.hp2 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0037 a0001c0001t0004 a0001c0001t0037	a0001c0001t0004g0010 a0001c0001t0037g0011 a0001c0001t0004g0010 a0001c0001t0037g0011	2	148	0.0135	28	c.286 others(47): Show c.2866+1772_2866+1773insGTGTATATATATATATATATATATAT AT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK1_chr18_20941906_21116813	20959086	T T	TATATATA others(21): Show TATATATAATATATATAATATTATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00639.hp2 others(39): Show HG00438.hp1 HG00544.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp2 HG01081.hp2 HG01358.hp1 HG01361.hp1 HG01884.hp2 HG01928.hp1 HG01981.hp1 HG02040.hp2 HG02300.hp1 HG02451.hp2 HG02735.hp2 HG02922.hp2 HG03710.hp2 NA18944.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA18968.hp2 NA18969.hp2 NA18978.hp2 NA18989.hp1 NA18991.hp2 NA19001.hp2 NA19003.hp2 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19064.hp1 NA19065.hp1 NA19081.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0031	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0147 others(39): Show a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0204 a0001c0001t0005g0130 a0001c0001t0005g0131 a0001c0001t0005g0132 a0001c0001t0005g0133 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0001t0010g0163 a0001c0001t0010g0207 a0001c0001t0010g0208 a0001c0001t0012g0009 a0001c0001t0012g0017 a0001c0001t0031g0210	42	205	0.2049	28	c.351 others(45): Show c.3512+753_3512+754insTATATATAATATTATATATATTATATAT	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32			chr18	TogoVar
ROCK1_chr18_20941906_21116813	21033854	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0113	1	27	0.0370	28	c.105 others(47): Show c.1052-4947_1052-4920dupTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	9/32			chr18	TogoVar
ROCK2_chr2_11174759_11349636	11238209	A A	AGTGTGTG others(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01192.hp1 HG02071.hp1 others(10): Show HG01109.hp2 HG01192.hp1 HG02071.hp1 HG02280.hp2 HG02698.hp2 HG02896.hp1 HG02965.hp1 HG03453.hp1 HG03579.hp1 NA18906.hp2 NA18947.hp2 NA18986.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0060 a0001c0001t0064 a0001c0003t0006 a0001c0003t0012	a0001c0001t0001g0130 a0001c0001t0004g0137 a0001c0001t0004g0138 others(10): Show a0001c0001t0001g0130 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0143 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0007g0148 a0001c0001t0060g0133 a0001c0001t0064g0262 a0001c0003t0006g0304 a0001c0003t0006g0311 a0001c0003t0012g0297 a0001c0003t0012g0306	13	50	0.2600	28	c.463 others(45): Show c.463-2275_463-2248dupACACACACACACACACACACACACACAC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	4/32			chr2	TogoVar

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