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
RNF183_chr9_113292093_113308376	113308170	A A	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	138	0.0072	25	c.-55 others(36): Show c.-5556_-5555insCTTTCTTTCTTTCTTTCTTTCTTTC	RNF183	ENSG00000165188.14	transcript	ENST00000489339.2	protein_coding		4795		chr9	TogoVar
RNF19A_chr8_100252067_100314953	100256511	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	120	0.0083	25	c.20 others(36): Show c.2044_*2045insTTTTTTTTTTTTTTTTTTTTTTTTT	RNF19A	ENSG00000034677.13	transcript	ENST00000341084.7	protein_coding		555		chr8	TogoVar
RNF212B_chr14_23232936_23278477	23275543	A A	AGTAACAG others(18): Show AGTAACAGACCTCCCCTCCCCCAGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	366	0.0027	25	c.26 others(36): Show c.2652_*2653insGTAACAGACCTCCCCTCCCCCAGCT	RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding		2067		chr14	TogoVar
RNF212B_chr14_23232936_23278477	23277397	A A	AAAGTCCA others(18): Show AAAGTCCATAGACGTTAAATTACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	366	0.0027	25	c.45 others(36): Show c.4506_*4507insAAGTCCATAGACGTTAAATTACCCC	RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding		3921		chr14	TogoVar
RNF212B_chr14_23232936_23278477	23277456	A A	AAAAATCT others(18): Show AAAAATCTGTCTTTAAAGCCAGCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	366	0.0027	25	c.45 others(36): Show c.4565_*4566insAAAATCTGTCTTTAAAGCCAGCCAT	RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding		3980		chr14	TogoVar
RNF212B_chr14_23232936_23278477	23278099	T T	TACAGGCA others(18): Show TACAGGCATGAGTCACCACACCCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	366	0.0027	25	c.52 others(36): Show c.5208_*5209insACAGGCATGAGTCACCACACCCAGC	RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding		4623		chr14	TogoVar
RNF216_chr7_5615047_5786663	5740104	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0154 a0001c0002t0015g0154	1	8	0.1250	25	c.104 others(42): Show c.1045-777_1045-753dupAAAAAAAAAAAAAAAAAAAAAAAAA	RNF216	ENSG00000011275.19	transcript	ENST00000389902.8	protein_coding	4/16			chr7	TogoVar
RNF24_chr20_3922311_4020558	3966507	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0021 a0001c0001t0050g0021	1	355	0.0028	25	c.-7- others(40): Show c.-7-2484_-7-2483insCACACACACACACACACACACACAC	RNF24	ENSG00000101236.17	transcript	ENST00000358395.11	protein_coding	1/5			chr20	TogoVar
RNF2_chr1_185040558_185107603	185076268	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0239 a0001c0001t0004g0239	1	29	0.0345	25	c.-2- others(42): Show c.-2-11268_-2-11244dupTTTTTTTTTTTTTTTTTTTTTTTTT	RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF2_chr1_185040558_185107603	185082345	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01081.hp1 HG01123.hp1 others(5): Show HG00438.hp1 HG01081.hp1 HG01123.hp1 HG01515.hp2 HG03490.hp2 HG04115.hp1 NA18972.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0003g0084 others(5): Show a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0003g0084 a0001c0001t0003g0177 a0001c0001t0004g0081 a0001c0001t0004g0099 a0001c0001t0004g0109 a0001c0001t0015g0230	8	13	0.6154	25	c.-2- others(40): Show c.-2-5185_-2-5184insTTTTTTTTTTTTTTTTTTTTTTTTT	RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF4_chr4_2464106_2520857	2484067	T T	TCCCCCCC others(18): Show TCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03195.hp1 NA18951.hp2 others(2): Show HG02809.hp1 HG03195.hp1 NA18951.hp2 NA19058.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009	a0001c0001t0002g0264 a0001c0001t0003g0248 a0001c0001t0004g0084 others(2): Show a0001c0001t0002g0264 a0001c0001t0003g0248 a0001c0001t0004g0084 a0001c0001t0008g0307 a0001c0001t0009g0223	5	31	0.1613	25	c.-15 others(44): Show c.-157-6262_-157-6261insCCCCCCCCCCCCCCCCCCCCCCCCC	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
RNF4_chr4_2464106_2520857	2505723	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0350 a0001c0001t0015g0350	1	49	0.0204	25	c.204 others(42): Show c.204+4991_204+5015dupTTTTTTTTTTTTTTTTTTTTTTTTT	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
RNF4_chr4_2464106_2520857	2518307	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0223 a0001c0001t0009g0223	1	15	0.0667	25	c.44 others(36): Show c.4488_*4489insTTTTTTTTTTTTTTTTTTTTTTTTT	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding		2451		chr4	TogoVar
RNFT2_chr12_116733315_116858631	116782079	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0101 a0001c0003t0002g0101	1	14	0.0714	25	c.882 others(42): Show c.882+2746_882+2747insAAAAAAAAAAAAAAAAAAAAAAAAA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNFT2_chr12_116733315_116858631	116785275	G G	GTGTGTGT others(18): Show GTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03654.hp1 HG01261.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0058 a0001c0001t0019 a0001c0001t0058	a0001c0001t0019g0187 a0001c0001t0058g0188 a0001c0001t0019g0187 a0001c0001t0058g0188	2	191	0.0105	25	c.882 others(42): Show c.882+5927_882+5928insTGTGTGTGTGTGTGTGTGTGTGTGT	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10			chr12	TogoVar
RNFT2_chr12_116733315_116858631	116800812	T T	TTAAAATA others(18): Show TTAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18962.hp2 NA18984.hp2 NA18956.hp1 NA18962.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0041 a0001c0001t0001 a0001c0001t0041	a0001c0001t0001g0202 a0001c0001t0001g0224 a0001c0001t0041g0145 a0001c0001t0001g0202 a0001c0001t0001g0224 a0001c0001t0041g0145	3	93	0.0323	25	c.882 others(44): Show c.882+21490_882+21514dupTAAAATAAAATAAAATAAAATAAAA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNFT2_chr12_116733315_116858631	116832140	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0020 a0001c0013t0020	a0001c0013t0020g0098 a0001c0013t0020g0098	1	264	0.0038	25	c.883 others(42): Show c.883-1652_883-1651insTATATATATATATATATATATATAT	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10			chr12	TogoVar
RNGTT_chr6_88604897_88968618	88647701	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG03831.hp1 others(3): Show HG01069.hp1 HG01071.hp2 HG03831.hp1 HG04115.hp2 NA18945.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 others(3): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0002g0178	6	111	0.0541	25	c.150 others(46): Show c.1506+30651_1506+30652insTTTTTTTTTTTTTTTTTTTTTTTT T	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	14/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88647715	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAGAAAAAAGAAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0158 a0001c0001t0011g0158	1	200	0.0050	25	c.150 others(46): Show c.1506+30637_1506+30638insCTTCTTTTTTCTTTTTTTTTTTTT T	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	14/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88755959	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0004	1	140	0.0071	25	c.143 others(46): Show c.1439+13790_1439+13814dupTTTTTTTTTTTTTTTTTTTTTTTT T	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88847637	A A	ATGTATTG others(18): Show ATGTATTGAATAAACAATTATTGACC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	218	0.0046	25	c.110 others(44): Show c.1104+2093_1104+2117dupGGTCAATAATTGTTTATTCAATACA	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	10/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88901495	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0173 a0001c0001t0005g0173	1	80	0.0125	25	c.684 others(42): Show c.684+3195_684+3219dupAAAAAAAAAAAAAAAAAAAAAAAAA	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	6/15			chr6	TogoVar
RNH1_chr11_489515_512242	494148	C C	CGCTGGGC others(18): Show CGCTGGGCTGGGCTGGGCTGGGCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0146 a0001c0005t0001g0146	1	226	0.0044	25	c.54 others(34): Show c.542_*543insCCAGCCCAGCCCAGCCCAGCCCAGC	RNH1	ENSG00000023191.17	transcript	ENST00000354420.7	protein_coding		366		chr11	TogoVar
RNMT_chr18_13721673_13769556	13744159	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	25	0.0400	25	c.113 others(44): Show c.1139+1509_1139+1533dupTTTTTTTTTTTTTTTTTTTTTTTTT	RNMT	ENSG00000101654.18	transcript	ENST00000383314.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ROBO1_chr3_78592239_79772998	78711348	C C	CTCCTTTC others(18): Show CTCCTTTCTTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0027 a0001c0001t0012g0027	1	31	0.0323	25	c.104 others(44): Show c.1045+3048_1045+3049insAGAAAGAAAGAAAGAAAAGAAAGGA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	8/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	78842281	A A	ATTTATAT others(18): Show ATTTATATATATGAGCCATATATATT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0002 a0004c0010t0002	a0004c0010t0002g0031 a0004c0010t0002g0031	1	39	0.0256	25	c.500 others(44): Show c.500-95382_500-95381insAATATATATGGCTCATATATATAAA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	4/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79484755	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp2 HG02717.hp2 HG01243.hp1 HG02280.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0003t0001 a0001c0002t0004 a0001c0003t0001	a0001c0002t0004g0001 a0001c0002t0004g0002 a0001c0003t0001g0023 a0001c0002t0004g0001 a0001c0002t0004g0002 a0001c0003t0001g0023	3	12	0.2500	25	c.88+ others(44): Show c.88+105068_88+105069insAAAAAAAAAAAAAAAAAAAAAAAAA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79550195	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGGAAAGAAAGAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0006 a0001c0001t0009g0006	1	11	0.0909	25	c.88+ others(42): Show c.88+39628_88+39629insTTTTCTTTCTTTCCTTTCTTTCTTT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO2_chr3_77035099_77654964	77252829	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA18945.hp2 HG00642.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0061 a0001c0001t0004g0150 a0001c0001t0001g0061 a0001c0001t0004g0150	2	91	0.0220	25	c.388 others(46): Show c.388+154489_388+154490insTATATATATATATATATATATATA T	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27			chr3	TogoVar
ROBO2_chr3_77035099_77654964	77252831	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02895.hp1 HG01243.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0002t0007 a0001c0001t0017 a0001c0002t0007	a0001c0001t0017g0085 a0001c0002t0007g0115 a0001c0001t0017g0085 a0001c0002t0007g0115	2	20	0.1000	25	c.388 others(46): Show c.388+154492_388+154493insAAAAATATATATATATATATATAT A	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77386603	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0122 a0001c0001t0004g0122	1	17	0.0588	25	c.389 others(44): Show c.389-90794_389-90793insTTTTTTTTTTTTTTTTTTTTTTTTT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77598438	T T	TATATATA others(18): Show TATATATATATATTTATTTATATAGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0016 a0001c0001t0021g0016	1	160	0.0063	25	c.286 others(44): Show c.2866+1698_2866+1699insATTTATTTATATAGAATATATATAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77599647	T T	TAAAAAAA others(18): Show TAAAAAAATAAATAAAAAATAAATAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0042 a0001c0001t0029g0042	1	160	0.0063	25	c.286 others(44): Show c.2867-2560_2867-2536dupAAAAATAAATAAAAAATAAATAAAA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK1_chr18_20941906_21116813	20959040	A A	AAAATAAT others(18): Show AAAATAATATATATATTTTATATAAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	202	0.0050	25	c.351 others(42): Show c.3512+799_3512+800insATTATATAAAATATATATATTATTT	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32			chr18	TogoVar
ROCK1_chr18_20941906_21116813	20959086	T T	TATATATA others(18): Show TATATATAATATATATAATATATATA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	164	0.0061	25	c.351 others(42): Show c.3512+753_3512+754insTATATATATTATATATATTATATAT	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32			chr18	TogoVar
ROCK1_chr18_20941906_21116813	20959132	A A	ATATATAT others(18): Show ATATATATATTATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02280.hp1 HG01167.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0148 a0001c0001t0001g0149	2	199	0.0101	25	c.351 others(42): Show c.3512+707_3512+708insATATATATATTATATAATATATATA	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32			chr18	TogoVar
ROCK1_chr18_20941906_21116813	21033854	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	27	0.0370	25	c.105 others(44): Show c.1052-4944_1052-4920dupTTTTTTTTTTTTTTTTTTTTTTTTT	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	9/32			chr18	TogoVar
ROCK1_chr18_20941906_21116813	21043551	T T	TTATATGT others(18): Show TTATATGTATATACATATACATAATG	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	208	0.0048	25	c.675 others(40): Show c.675+526_675+550dupCATTATGTATATGTATATACATATA	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	6/32			chr18	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGGAG others(18): Show GAGAGGAGAGAGAGAGAGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0116 a0002c0002t0011g0116	1	217	0.0046	25	c.142 others(42): Show c.142-8255_142-8254insTCCCCCCTCTCTCTCTCTCTCCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GAGAGAGA others(18): Show GAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0271 a0001c0001t0004g0271	1	46	0.0217	25	c.142 others(42): Show c.142-8270_142-8269insTCTCTCTCTCTCTCTCTCTCTCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGAGAGAG others(18): Show GGAGAGAGAGAGAGAGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18941.hp1 NA19070.hp2 HG00609.hp2 NA18941.hp1 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0024 a0002c0002t0002g0071 a0002c0002t0002g0093 a0002c0002t0002g0024 a0002c0002t0002g0071 a0002c0002t0002g0093	3	48	0.0625	25	c.142 others(42): Show c.142-8270_142-8269insTCTCTCTCCCCTCTCTCTCTCTCTC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11317612	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19006.hp2 HG02976.hp1 NA19006.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0065 a0002c0002t0003 a0001c0001t0065 a0002c0002t0003	a0001c0001t0065g0259 a0002c0002t0003g0103 a0001c0001t0065g0259 a0002c0002t0003g0103	2	67	0.0299	25	c.141 others(44): Show c.141+26383_141+26384insAAAAAAATATATATATATATATATA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11317612	A A	ATATATAT others(18): Show ATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0078 a0002c0002t0002g0078	1	66	0.0152	25	c.141 others(44): Show c.141+26383_141+26384insAAAAAAAAAAAAAAAAATATATATA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11317613	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0143 a0001c0001t0004g0143	1	309	0.0032	25	c.141 others(44): Show c.141+26382_141+26383insTATATATATATATATATATATATAT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROPN1_chr3_123964015_123997124	123986018	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG01358.hp2 others(22): Show HG00558.hp2 HG00597.hp2 HG01358.hp2 HG01952.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02071.hp2 HG02293.hp1 HG03831.hp1 NA18747.hp2 NA18960.hp1 NA18961.hp2 NA18971.hp1 NA18975.hp2 NA18982.hp2 NA18995.hp2 NA19010.hp1 NA19012.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19080.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0010 a0001c0002t0001g0017 others(9): Show a0001c0002t0001g0006 a0001c0002t0001g0010 a0001c0002t0001g0017 a0001c0002t0001g0036 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0170 a0001c0002t0001g0203 a0001c0002t0001g0204	25	41	0.6098	25	c.-12 others(42): Show c.-12-5526_-12-5525insATTTTTTTTTTTTTTTTTTTTTTTT	ROPN1	ENSG00000065371.18	transcript	ENST00000405845.8	protein_coding	1/5			chr3	TogoVar
ROR2_chr9_91717601_91955228	91836539	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA20905.hp1 HG03139.hp2 NA20905.hp1	a0001 a0006 a0001 a0006	a0001c0005 a0006c0011 a0001c0005 a0006c0011	a0001c0005t0003 a0006c0011t0001 a0001c0005t0003 a0006c0011t0001	a0001c0005t0003g0148 a0006c0011t0001g0209 a0001c0005t0003g0148 a0006c0011t0001g0209	2	151	0.0132	25	c.98- others(42): Show c.98-60722_98-60721insTTTTTTTTTTTTTTTTTTTTTTTTT	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
RORA_chr15_60483284_61234302	60517110	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0114 a0001c0003t0014g0114	1	23	0.0435	25	c.283 others(42): Show c.283-2354_283-2353insAAAAAAAAAAAAAAAAAAAAAAAAA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60816734	T T	TAAATAAA others(18): Show TAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp2 HG02622.hp2 others(4): Show HG00621.hp1 HG00735.hp2 HG02622.hp2 HG02976.hp1 HG03669.hp2 HG03834.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 others(4): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0031 a0001c0001t0032 a0001c0001t0054 a0001c0004t0041	a0001c0001t0006g0055 a0001c0001t0012g0090 a0001c0001t0013g0072 others(4): Show a0001c0001t0006g0055 a0001c0001t0012g0090 a0001c0001t0013g0072 a0001c0001t0031g0116 a0001c0001t0032g0037 a0001c0001t0054g0093 a0001c0004t0041g0063	7	115	0.0609	25	c.167 others(46): Show c.167-138049_167-138048insTATTTTATTTTATTTTATTTTATT T	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60943916	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0047 a0001c0001t0005g0047	1	7	0.1429	25	c.167 others(46): Show c.167-265231_167-265230insTTTTTTTTTTTTTTTTTTTTTTTT T	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60991906	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03471.hp2 HG03041.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0049 a0001c0002t0021 a0001c0001t0049 a0001c0002t0021	a0001c0001t0049g0003 a0001c0002t0021g0018 a0001c0001t0049g0003 a0001c0002t0021g0018	2	52	0.0385	25	c.166 others(46): Show c.166+237122_166+237146dupATTTTATTTTATTTTATTTTATTT T	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar

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