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
RBM24_chr6_17276361_17298871	17295021	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG02109.hp1 HG02129.hp1 others(11): Show HG01070.hp1 HG02109.hp1 HG02129.hp1 HG02970.hp1 HG03239.hp1 NA18978.hp2 NA18990.hp2 NA19002.hp1 NA19056.hp2 NA19067.hp1 NA19068.hp1 NA19078.hp1 NA19079.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0106 a0001c0001t0002g0006	14	442	0.0317	26	c.29 others(37): Show c.2902_*2903insTATATATATATATATATATATATATA	RBM24	ENSG00000112183.15	transcript	ENST00000379052.10	protein_coding		1151		chr6	TogoVar
RBM25_chr14_73053534_73128899	73105038	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG01070.hp1 others(5): Show HG00323.hp1 HG00639.hp1 HG01070.hp1 HG01071.hp2 HG01361.hp2 HG02293.hp2 HG03831.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0001 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0336 a0001c0001t0004g0315 a0001c0001t0004g0316 others(5): Show a0001c0001t0001g0336 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0008g0007 a0001c0001t0008g0012	8	388	0.0206	26	c.115 others(43): Show c.1155-819_1155-794dupCACACACACACACACACACACACACA	RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
RBM27_chr5_146198605_146294223	146211464	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG03710.hp2 HG00323.hp1 HG00642.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0250 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0250	3	272	0.0110	26	c.60- others(41): Show c.60-7516_60-7491dupTTTTTTTTTTTTTTTTTTTTTTTTTT	RBM27	ENSG00000091009.8	transcript	ENST00000265271.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr5	TogoVar
RBM33_chr7_155639661_155786480	155673940	G G	GTTGTTGT others(19): Show GTTGTTGTTTGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 NA18980.hp1 HG01070.hp1 NA18980.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0033 a0002c0001t0001 a0002c0001t0033	a0002c0001t0001g0010 a0002c0001t0033g0054 a0002c0001t0001g0010 a0002c0001t0033g0054	2	306	0.0065	26	c.171 others(43): Show c.171+1027_171+1028insGTTGTTTGTTTTTTTTTTTTTTTTTT	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM42_chr19_35624036_35642685	35638908	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG03139.hp1 NA19059.hp1 HG02738.hp1 HG03139.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0084 a0001c0001t0001g0001 a0001c0001t0001g0084	3	428	0.0070	26	c.13 others(37): Show c.1354_*1355insAAAAAAAAAAAAAAAAAAAAAAAAAA	RBM42	ENSG00000126254.12	transcript	ENST00000262633.9	protein_coding		1224		chr19	TogoVar
RBM47_chr4_40418280_40634864	40437090	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp2 NA19043.hp1 HG02083.hp1 HG02083.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0014 a0001c0001t0048 a0002c0002t0023 a0001c0001t0014 a0001c0001t0048 a0002c0002t0023	a0001c0001t0014g0214 a0001c0001t0048g0269 a0002c0002t0023g0220 a0001c0001t0014g0214 a0001c0001t0048g0269 a0002c0002t0023g0220	3	278	0.0108	26	c.112 others(43): Show c.1124-444_1124-443insATATATATATATATTTTTTTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40498054	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0269 a0001c0001t0048g0269	1	278	0.0036	26	c.-15 others(47): Show c.-154-31356_-154-31355insTATATATATATATATATATATATA TA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	2/6			chr4	TogoVar
RBMS1_chr2_160267151_160498807	160311228	C C	CTATATAT others(19): Show CTATATATCTATATATCTATATATCTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp1 HG01081.hp2 others(9): Show HG00280.hp2 HG00597.hp1 HG01081.hp2 HG01257.hp2 HG02273.hp2 HG02683.hp2 HG02965.hp2 HG02970.hp1 NA18995.hp1 NA19056.hp2 NA19077.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0030 a0001c0002t0001 a0001c0002t0006 a0001c0002t0030	a0001c0002t0001g0183 a0001c0002t0001g0191 a0001c0002t0001g0193 others(9): Show a0001c0002t0001g0183 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0196 a0001c0002t0001g0205 a0001c0002t0001g0211 a0001c0002t0001g0223 a0001c0002t0001g0225 a0001c0002t0001g0230 a0001c0002t0001g0260 a0001c0002t0006g0314 a0001c0002t0030g0284	12	328	0.0366	26	c.402 others(43): Show c.402+1927_402+1928insTAGATATATAGATATATAGATATATA	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	4/13			chr2	TogoVar
RBMS1_chr2_160267151_160498807	160311234	A A	ATCTATAT others(19): Show ATCTATATATCTATATATATATATATC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02630.hp1 HG02723.hp1 others(5): Show HG01261.hp2 HG02630.hp1 HG02723.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03098.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0032 a0001c0001t0007 a0001c0001t0032	a0001c0001t0007g0143 a0001c0001t0007g0144 a0001c0001t0007g0145 others(5): Show a0001c0001t0007g0143 a0001c0001t0007g0144 a0001c0001t0007g0145 a0001c0001t0007g0146 a0001c0001t0007g0152 a0001c0001t0007g0166 a0001c0001t0007g0171 a0001c0001t0032g0317	8	328	0.0244	26	c.402 others(43): Show c.402+1921_402+1922insGATATATATATATATAGATATATAGA	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	4/13			chr2	TogoVar
RBMS1_chr2_160267151_160498807	160311234	A A	ATCTATAT others(19): Show ATCTATATATCTATATATCTATATATC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp1 HG01167.hp2 others(2): Show HG00140.hp2 HG00741.hp1 HG01167.hp2 HG01169.hp2 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 others(2): Show a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0245 a0001c0002t0001g0258	5	328	0.0152	26	c.402 others(43): Show c.402+1921_402+1922insGATATATAGATATATAGATATATAGA	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	4/13			chr2	TogoVar
RBMS1_chr2_160267151_160498807	160471691	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	328	0.0031	26	c.75+ others(43): Show c.75+21572_75+21597dupTATATATATATATATATATATATATA	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RBMS1_chr2_160267151_160498807	160471691	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0325 a0001c0001t0033g0325	1	328	0.0031	26	c.75+ others(43): Show c.75+21597_75+21598insTATATATATATATATATATATATACA	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RBMS1_chr2_160267151_160498807	160471691	G G	GTGTGTAT others(19): Show GTGTGTATGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0269 a0001c0001t0004g0270	2	328	0.0061	26	c.75+ others(43): Show c.75+21597_75+21598insTATATATATATATATATACATACACA	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RBMS1_chr2_160267151_160498807	160471716	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00738.hp1 HG02293.hp2 others(3): Show HG00597.hp2 HG00738.hp1 HG02293.hp2 HG03195.hp2 NA18947.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 others(3): Show a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0169 a0001c0001t0002g0176	6	328	0.0183	26	c.75+ others(43): Show c.75+21572_75+21573insTTATATATATATATATATATATATAT	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RBMS2_chr12_56516820_56601193	56597637	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0223 a0001c0002t0004g0224 a0001c0002t0004g0223 a0001c0002t0004g0224	2	280	0.0071	26	c.85 others(37): Show c.8504_*8505insACACACACACACACACACACACACAC	RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding		1445		chr12	TogoVar
RBMS3_chr3_29276071_30015386	29444788	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0088 a0001c0001t0076g0088	1	116	0.0086	26	c.248 others(43): Show c.248+9897_248+9898insTTTTTTTTTTTTTTTTTTTTTTTTTT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29514650	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0080 a0001c0001t0071g0080	1	116	0.0086	26	c.307 others(45): Show c.307+26156_307+26181dupATATATATATATATATATATATATAT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29691947	C C	CTCTCTCT others(19): Show CTCTCTCTCTATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	116	0.0086	26	c.400 others(45): Show c.400-47772_400-47771insCTCTCTCTATTTTTTTTTTTTTTTTT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29691947	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0086 a0001c0002t0086	a0001c0002t0086g0068 a0001c0002t0086g0068	1	116	0.0086	26	c.400 others(45): Show c.400-47772_400-47771insCTCTCTCTCTATTTTTTTTTTTTTTT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29779706	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01928.hp2 HG03195.hp2 HG01361.hp2 HG01928.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0023 a0001c0001t0032 a0001c0001t0016 a0001c0001t0023 a0001c0001t0032	a0001c0001t0016g0064 a0001c0001t0023g0054 a0001c0001t0032g0115 a0001c0001t0016g0064 a0001c0001t0023g0054 a0001c0001t0032g0115	3	116	0.0259	26	c.637 others(45): Show c.637+16736_637+16737insTATATATATATATATATATATATATA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29962551	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01993.hp1 HG02155.hp2 others(2): Show HG01928.hp2 HG01993.hp1 HG02155.hp2 HG02965.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0016 a0001c0001t0017 others(1): Show a0001c0001t0005 a0001c0001t0016 a0001c0001t0017 a0001c0002t0081	a0001c0001t0005g0009 a0001c0001t0016g0064 a0001c0001t0016g0076 others(2): Show a0001c0001t0005g0009 a0001c0001t0016g0064 a0001c0001t0016g0076 a0001c0001t0017g0082 a0001c0002t0081g0017	5	116	0.0431	26	c.109 others(47): Show c.1098+18314_1098+18315insTATATATATATATATATATATATA TA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMXL3_chrX_115184410_115197868	115197847	T T	TCTCTCTC others(19): Show TCTCTCTCTCTCTCTCTCTCTCTCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0001 a0006c0019t0001	a0006c0019t0001g0000 a0006c0019t0001g0000	1	314	0.0032	26	c.52 others(37): Show c.5202_*5203insCTCTCTCTCTCTCTCTCTCTCTCTCA	RBMXL3	ENSG00000175718.10	transcript	ENST00000424776.5	protein_coding		4980		chrX	TogoVar
RBP2_chr3_139447884_139481516	139462558	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02622.hp1 NA18956.hp2 HG01175.hp1 HG02622.hp1 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0165 a0001c0001t0001g0194 a0001c0001t0001g0128 a0001c0001t0001g0165 a0001c0001t0001g0194	3	266	0.0113	26	c.74- others(39): Show c.74-294_74-269dupGTGTGTGTGTGTGTGTGTGTGTGTGT	RBP2	ENSG00000114113.6	transcript	ENST00000232217.6	protein_coding	1/3			chr3	TogoVar
RBPJL_chr20_45301840_45322824	45305805	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG01496.hp2 others(24): Show HG00639.hp2 HG00642.hp2 HG01496.hp2 HG01928.hp1 HG02080.hp1 HG02451.hp2 HG03490.hp1 HG03654.hp2 HG03669.hp1 HG03831.hp1 HG03927.hp2 HG04199.hp1 NA18612.hp2 NA18943.hp1 NA18943.hp2 NA18948.hp1 NA18953.hp1 NA18955.hp1 NA18967.hp2 NA18975.hp1 NA18980.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19054.hp2 NA19066.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0001c0002 a0013c0010 a0001c0001 a0001c0002 a0013c0010	a0001c0001t0001 a0001c0002t0001 a0013c0010t0001 a0001c0001t0001 a0001c0002t0001 a0013c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0022 others(9): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0053 a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0076 a0001c0002t0001g0093 a0013c0010t0001g0123	27	446	0.0605	26	c.-11 others(37): Show c.-1118_-1117insTTTTTTTTTTTTTTTTTTTTTTTTTT	RBPJL	ENSG00000124232.11	transcript	ENST00000343694.8	protein_coding		1034		chr20	TogoVar
RBPJ_chr4_26316014_26439923	26316352	C C	CATATATA others(19): Show CATATATACATTCATATATACATTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0156	1	316	0.0032	26	c.-46 others(37): Show c.-4677_-4676insATATATACATTCATATATACATTCAT	RBPJ	ENSG00000168214.22	transcript	ENST00000355476.8	protein_coding		4661		chr4	TogoVar
RBPMS_chr8_30379541_30577256	30445649	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	304	0.0033	26	c.67- others(43): Show c.67-29129_67-29104dupATATATATATATATATATATATATAT	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30516903	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03139.hp2 HG02165.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0225 a0001c0001t0011g0088 a0001c0001t0001g0225 a0001c0001t0011g0088	2	304	0.0066	26	c.397 others(45): Show c.397+12486_397+12487insCACACACACACACACACACACACACA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30518687	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03654.hp1 HG03579.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0211 a0001c0001t0006g0300 a0001c0001t0001g0211 a0001c0001t0006g0300	2	304	0.0066	26	c.397 others(45): Show c.397+14254_397+14279dupTTTTTTTTTTTTTTTTTTTTTTTTTT	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30518715	T T	TTTTTTTT others(19): Show TTTTTTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	304	0.0033	26	c.397 others(45): Show c.397+14279_397+14280insTTTTTTTTTTTTTTTTTTTTTTTTTC	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8			chr8	TogoVar
RBPMS_chr8_30379541_30577256	30549772	T T	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0258 a0001c0001t0010g0258	1	304	0.0033	26	c.528 others(43): Show c.528+5172_528+5173insTCTCTCTCTCTCTCTCTCTCTCTCTC	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30549793	T T	TCTCTCTC others(19): Show TCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG04184.hp1 HG02683.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0020 a0001c0001t0007g0055 a0001c0001t0007g0020 a0001c0001t0007g0055	2	304	0.0066	26	c.528 others(43): Show c.528+5172_528+5173insTCTCTCTCTCTCTCTCTCTCTCCCTC	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RC3H1_chr1_173926084_174027357	173929831	T T	TTTTTTTT others(19): Show TTTTTTTTTTTTTTTTTTTTTTTTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0036 a0001c0001t0048g0036	1	310	0.0032	26	c.88 others(37): Show c.8889_*8890insTAAAAAAAAAAAAAAAAAAAAAAAAA	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding		1252		chr1	TogoVar
RC3H1_chr1_173926084_174027357	173942428	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0288 a0001c0001t0005g0288	1	310	0.0032	26	c.313 others(45): Show c.3135+1013_3135+1014insTTTTTTTTTTTTTTTTTTTTTTTTTT	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	18/19			chr1	TogoVar
RCAN2_chr6_46215736_46496449	46227602	T T	TTTGTATT others(19): Show TTTGTATTTCTGTGGGAATGGTTGTGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00621.hp2 others(35): Show HG00438.hp2 HG00609.hp1 HG00621.hp2 HG00735.hp1 HG00741.hp2 HG01175.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01975.hp2 HG02040.hp2 HG02129.hp1 HG02155.hp2 HG02293.hp2 HG04184.hp2 NA18747.hp1 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18971.hp1 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp2 NA19002.hp1 NA19065.hp1 NA19070.hp1 NA19084.hp1 NA19088.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0003t0002	a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 others(35): Show a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0027 a0001c0001t0010g0001 a0001c0001t0013g0024 a0001c0001t0017g0083 a0001c0001t0019g0147 a0001c0003t0002g0032	38	158	0.2405	26	c.572 others(43): Show c.572-4327_572-4302dupTCACAACCATTCCCACAGAAATACAA	RCAN2	ENSG00000172348.16	transcript	ENST00000371374.6	protein_coding	4/4			chr6	TogoVar
RCAN2_chr6_46215736_46496449	46367022	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18945.hp2 NA20752.hp2 HG03486.hp2 NA18945.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0001t0001 a0001c0001t0003 a0001c0001t0017	a0001c0001t0001g0084 a0001c0001t0003g0103 a0001c0001t0017g0083 a0001c0001t0001g0084 a0001c0001t0003g0103 a0001c0001t0017g0083	3	158	0.0190	26	c.225 others(45): Show c.225+89704_225+89729dupATATATATATATATATATATATATAT	RCAN2	ENSG00000172348.16	transcript	ENST00000371374.6	protein_coding	2/4			chr6	TogoVar
RCBTB2_chr13_48483963_48538080	48493225	T T	TCACACAC others(19): Show TCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	320	0.0031	26	c.151 others(45): Show c.1515+2940_1515+2965dupTGTGTGTGTGTGTGTGTGTGTGTGTG	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	14/14			chr13	TogoVar
RCBTB2_chr13_48483963_48538080	48493311	A A	ACTCTCTC others(19): Show ACTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02683.hp1 HG04184.hp1 others(4): Show HG00408.hp1 HG02683.hp1 HG04184.hp1 NA18970.hp1 NA18971.hp1 NA18990.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0105 others(4): Show a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0137	7	320	0.0219	26	c.151 others(45): Show c.1515+2879_1515+2880insAGAGAGAGAGAGAGAGAGAGAGAGAG	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	14/14			chr13	TogoVar
RCBTB2_chr13_48483963_48538080	48499142	A A	ACACACAC others(19): Show ACACACACACACACACACACACACACT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	320	0.0031	26	c.138 others(43): Show c.1384+478_1384+479insAGTGTGTGTGTGTGTGTGTGTGTGTG	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	13/14			chr13	TogoVar
RCC1L_chr7_75037183_75078802	75072155	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG01993.hp2 others(3): Show HG00597.hp1 HG00597.hp2 HG01993.hp2 HG02027.hp1 HG02886.hp1 NA18957.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0186 a0002c0002t0002g0010 a0002c0002t0002g0034 others(2): Show a0001c0001t0002g0186 a0002c0002t0002g0010 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036	6	270	0.0222	26	c.324 others(43): Show c.324+1258_324+1259insATATATATATATATATATATATATAT	RCC1L	ENSG00000274523.5	transcript	ENST00000610322.5	protein_coding	1/10			chr7	TogoVar
RCC1L_chr7_75037183_75078802	75072161	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0077 a0002c0002t0002g0077	1	270	0.0037	26	c.324 others(43): Show c.324+1227_324+1252dupATATATATATATATATATATATATAT	RCC1L	ENSG00000274523.5	transcript	ENST00000610322.5	protein_coding	1/10			chr7	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	294	0.0034	26	c.52 others(37): Show c.5232_*5233insAAATATATATATATATATATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4251		chr1	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	294	0.0034	26	c.52 others(37): Show c.5232_*5233insATATATATATATATATATATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4251		chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02109.hp1 HG02080.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0159 a0001c0002t0002g0200 a0001c0002t0002g0159 a0001c0002t0002g0200	2	390	0.0051	26	c.286 others(43): Show c.286-2161_286-2160insATATATATATATATATATATATTTTT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCHY1_chr4_75474033_75519403	75487786	T T	TATATATT others(19): Show TATATATTCATAATATATATATTCATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02922.hp1 HG01891.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0030 a0001c0001t0005 a0001c0001t0030	a0001c0001t0005g0155 a0001c0001t0030g0150 a0001c0001t0005g0155 a0001c0001t0030g0150	2	406	0.0049	26	c.657 others(43): Show c.657+2794_657+2795insTATGAATATATATATTATGAATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCSD1_chr1_167625232_167713696	167630721	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA18950.hp1 NA19081.hp1 HG02004.hp2 NA18950.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0001g0017 a0001c0001t0003g0018 a0001c0001t0003g0019	3	350	0.0086	26	c.6+2 others(37): Show c.6+299_6+324dupAAAAAAAAAAAAAAAAAAAAAAAAAA	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RDX_chr11_110224441_110301614	110289956	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02055.hp2 NA18939.hp2 others(1): Show HG01978.hp2 HG02055.hp2 NA18939.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0042 a0001c0001t0001 a0001c0001t0003 a0001c0001t0042	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0003g0246 others(1): Show a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0003g0246 a0001c0001t0042g0362	4	376	0.0106	26	c.-65 others(43): Show c.-65+6485_-65+6510dupTTTTTTTTTTTTTTTTTTTTTTTTTT	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	1/13			chr11	TogoVar
RECK_chr9_36031913_36129455	36048126	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02630.hp1 HG02723.hp2 others(5): Show HG01074.hp1 HG02630.hp1 HG02723.hp2 HG03471.hp1 HG03491.hp2 HG04115.hp2 NA18906.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0281 a0001c0001t0001g0286 a0001c0001t0001g0290 others(5): Show a0001c0001t0001g0281 a0001c0001t0001g0286 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0311 a0001c0001t0001g0356 a0001c0001t0002g0353	8	392	0.0204	26	c.101 others(43): Show c.101-4130_101-4105dupATATATATATATATATATATATATAT	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
REEP2_chr5_138434057_138451965	138449130	G G	GGGTTCCC others(19): Show GGGTTCCCTGTGTCCACAGGAACATGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	432	0.0023	26	c.33 others(37): Show c.3379_*3380insGGTTCCCTGTGTCCACAGGAACATGC	REEP2	ENSG00000132563.17	transcript	ENST00000378339.7	protein_coding		2166		chr5	TogoVar
REEP6_chr19_1486181_1502927	1493708	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(65): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00544.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01081.hp1 HG01109.hp2 HG01175.hp1 HG01257.hp2 HG01496.hp2 HG01891.hp1 HG01943.hp1 HG01975.hp2 HG01993.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02129.hp2 HG02132.hp2 HG02165.hp1 HG02273.hp1 HG02602.hp1 HG02683.hp1 HG02723.hp2 HG03130.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18952.hp1 NA18955.hp2 NA18971.hp1 NA18971.hp2 NA18980.hp1 NA18984.hp1 NA18986.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp2 NA19067.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0016	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0024 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0149 a0001c0001t0002g0003 a0001c0001t0002g0030 a0001c0001t0002g0054 a0001c0001t0002g0075 a0001c0001t0002g0083 a0001c0001t0010g0093 a0001c0001t0016g0001	68	318	0.2138	26	c.116 others(43): Show c.116-1562_116-1561insACACACACACACACACACACACACAC	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
REEP6_chr19_1486181_1502927	1500696	G G	GAAAAAAA others(19): Show GAAAAAAAAAAAAAAAAGAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02717.hp1 HG02723.hp1 others(2): Show HG02451.hp1 HG02717.hp1 HG02723.hp1 HG03041.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0044 a0001c0001t0003g0011 a0001c0001t0003g0044	5	318	0.0157	26	c.34 others(37): Show c.3485_*3486insAAAAAAAAAAAAAAAAGAAAAAAAAA	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2770		chr19	TogoVar

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