Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
RHOQ_chr2_46537490_46589688	46546451	CATATATA others(29): Show CATATATATATATATATATATATGTGTATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00642.hp1 others(23): Show HG00280.hp1 HG00544.hp1 HG00642.hp1 HG00738.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01261.hp2 HG01496.hp2 HG01891.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02071.hp2 HG02148.hp2 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02572.hp1 HG02922.hp2 HG02976.hp1 HG03491.hp2 NA19030.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0020 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0002t0002	a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(23): Show a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0002g0049 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0005g0173 a0001c0001t0006g0177 a0001c0001t0020g0118 a0001c0001t0022g0024 a0001c0001t0025g0061 a0001c0001t0026g0062 a0001c0002t0002g0122 a0001c0002t0002g0123	26	247	0.1053	-36	c.201 others(53): Show c.201+2662_201+2697delGTGTATATATATATATATATATATATAT ATATATAT	RHOQ	ENSG00000119729.12	transcript	ENST00000238738.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
RIBC2_chr22_45408693_45437509	45421493	TTATTATT others(29): Show TTATTATTAATAATAGTATTATTAATAATAATAATAG	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	421	0.0024	-36	c.557 others(51): Show c.557-782_557-747delGTATTATTAATAATAATAATAGTATTATTA ATAATA	RIBC2	ENSG00000128408.9	transcript	ENST00000614167.2	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
RIBC2_chr22_45408693_45437509	45421523	ATAATAGT others(29): Show ATAATAGTATTATTAATAATATTAATAATAATAATAG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	422	0.0024	-36	c.557 others(51): Show c.557-764_557-729delATAGTATTATTAATAATATTAATAATAATA ATAGTA	RIBC2	ENSG00000128408.9	transcript	ENST00000614167.2	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
RIBC2_chr22_45408693_45437509	45421541	ATATTAAT others(29): Show ATATTAATAATAATAATAGTATTATTAATAATAGTAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03453.hp2 NA18906.hp2 HG03130.hp1 HG03453.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164	3	420	0.0071	-36	c.557 others(51): Show c.557-716_557-681delGTATTATTAATAATAATAATAGTATTATTA ATAATA	RIBC2	ENSG00000128408.9	transcript	ENST00000614167.2	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
RILPL1_chr12_123465054_123538719	123521650	TACACATA others(29): Show TACACATATATGTATATATATAAATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0142 a0001c0002t0001g0142	1	208	0.0048	-36	c.460 others(53): Show c.460+1809_460+1844delGTATATATATATATTTATATATATACAT ATATGTGT	RILPL1	ENSG00000188026.13	transcript	ENST00000376874.9	protein_coding	2/6			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130394814	TTATGTGC others(29): Show TTATGTGCATGAGAAGTAACTGCAAAACGAAATTTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00639.hp2 others(42): Show HG00099.hp2 HG00639.hp1 HG00639.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01981.hp2 HG02148.hp1 HG02148.hp2 HG02559.hp1 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG03139.hp2 HG03195.hp2 HG03491.hp2 HG03579.hp2 HG03710.hp2 HG03834.hp1 NA18950.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19081.hp1 NA20752.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0013	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0021 a0001c0028 a0002c0009 a0005c0015 a0007c0018 a0013c0038	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0004t0007 a0001c0006t0001 a0001c0021t0001 a0001c0028t0001 a0002c0009t0001 a0005c0015t0001 a0007c0018t0001 a0013c0038t0001	a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0029 others(42): Show a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0072 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0127 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0005g0006 a0001c0001t0005g0078 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0036 a0001c0002t0001g0051 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0107 a0001c0002t0001g0110 a0001c0002t0001g0151 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0177 a0001c0003t0001g0010 a0001c0003t0001g0048 a0001c0003t0001g0077 a0001c0003t0001g0116 a0001c0003t0001g0136 a0001c0003t0001g0154 a0001c0004t0001g0004 a0001c0004t0007g0053 a0001c0006t0001g0009 a0001c0006t0001g0075 a0001c0006t0001g0076 a0001c0021t0001g0043 a0001c0028t0001g0114 a0002c0009t0001g0147 a0005c0015t0001g0066 a0005c0015t0001g0139 a0007c0018t0001g0059 a0013c0038t0001g0090	45	178	0.2528	-36	c.25 others(47): Show c.2511_*2546delCCAAATTTCGTTTTGCAGTTACTTCTCATGCACA TA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding		1318		chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130535728	CATATATA others(29): Show CATATATATACATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0118 a0001c0020t0001g0118	1	68	0.0147	-36	c.-21 others(57): Show c.-216-17847_-216-17812delATATATATATATATATATATATAT ATGTATATATAT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646118	ACCACCTG others(29): Show ACCACCTGCCTCTCCACCTCCCTCACCACCTGCCTCT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG00642.hp2 HG01081.hp1	a0001 a0001	a0001c0021 a0001c0025 a0001c0021 a0001c0025	a0001c0021t0001 a0001c0025t0001 a0001c0021t0001 a0001c0025t0001	a0001c0021t0001g0043 a0001c0025t0001g0071 a0001c0021t0001g0043 a0001c0025t0001g0071	2	159	0.0126	-36	c.-35 others(57): Show c.-351-17698_-351-17663delAGAGGCAGGTGGTGAGGGAGGTGG AGAGGCAGGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646166	ACCACCTG others(29): Show ACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0096 a0004c0012t0002g0096	1	163	0.0061	-36	c.-35 others(57): Show c.-351-17746_-351-17711delAGAGGGAAGTGGTGAGGGAGGTGG AGAGGCAGGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646173	GCCTCTCC others(29): Show GCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTC	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG06807.hp2 HG01255.hp1 HG06807.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0033 a0001c0006t0001g0042 a0001c0006t0001g0033 a0001c0006t0001g0042	2	119	0.0168	-36	c.-35 others(57): Show c.-351-17753_-351-17718delGAGGTGGAGAGGGAAGTGGTGAGG GAGGTGGAGAGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646286	ACCACCTG others(29): Show ACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0053 a0001c0004t0007g0053	1	166	0.0060	-36	c.-35 others(57): Show c.-351-17866_-351-17831delAGAGGGAAGTGGTGAGGGAGGTGG AGAGGCAGGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646394	ACCACCTG others(29): Show ACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03540.hp2 HG01081.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0021 a0001c0002 a0001c0021	a0001c0002t0001 a0001c0021t0001 a0001c0002t0001 a0001c0021t0001	a0001c0002t0001g0054 a0001c0021t0001g0043 a0001c0002t0001g0054 a0001c0021t0001g0043	2	158	0.0127	-36	c.-35 others(57): Show c.-351-17974_-351-17939delAGAGGGAAGTGGTGAGGGAGGTGG AGAGGCAGGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646405	CTCCACCT others(29): Show CTCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01192.hp2 HG01243.hp2 others(7): Show HG01109.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01258.hp2 HG01361.hp2 HG01496.hp2 HG01884.hp2 HG01978.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0028	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0005t0009 a0001c0028t0001	a0001c0001t0001g0029 a0001c0001t0001g0152 a0001c0001t0001g0158 others(7): Show a0001c0001t0001g0029 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0002g0031 a0001c0002t0001g0021 a0001c0003t0001g0148 a0001c0005t0001g0032 a0001c0005t0001g0111 a0001c0005t0009g0157 a0001c0028t0001g0114	10	177	0.0565	-36	c.-35 others(57): Show c.-351-17985_-351-17950delAAGGGAGGTGGAGAGGGAAGTGGT GAGGGAGGTGGA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP3B_chr22_21378751_21394478	21392774	AAAGGAAG others(29): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00639.hp2 HG00642.hp2 others(30): Show HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG01175.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02818.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp1 HG03471.hp2 HG03516.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04204.hp1 NA18747.hp2 NA18954.hp2 NA18966.hp2 NA18979.hp1 NA20129.hp2	a0001 a0003 a0009 others(13): Show a0001 a0003 a0009 a0012 a0013 a0018 a0030 a0035 a0036 a0037 a0039 a0040 a0047 a0049 a0058 a0070	a0001c0002 a0001c0003 a0001c0005 others(17): Show a0001c0002 a0001c0003 a0001c0005 a0003c0058 a0003c0060 a0009c0069 a0009c0078 a0012c0075 a0013c0072 a0018c0079 a0030c0024 a0035c0011 a0036c0025 a0037c0022 a0039c0084 a0040c0020 a0047c0081 a0049c0047 a0058c0010 a0070c0017	a0001c0002t0003 a0001c0003t0003 a0001c0005t0003 others(17): Show a0001c0002t0003 a0001c0003t0003 a0001c0005t0003 a0003c0058t0004 a0003c0060t0004 a0009c0069t0004 a0009c0078t0003 a0012c0075t0004 a0013c0072t0007 a0018c0079t0003 a0030c0024t0002 a0035c0011t0002 a0036c0025t0002 a0037c0022t0004 a0039c0084t0004 a0040c0020t0002 a0047c0081t0001 a0049c0047t0004 a0058c0010t0003 a0070c0017t0002	a0001c0002t0003g0000 a0001c0003t0003g0000 a0001c0005t0003g0000 others(17): Show a0001c0002t0003g0000 a0001c0003t0003g0000 a0001c0005t0003g0000 a0003c0058t0004g0000 a0003c0060t0004g0000 a0009c0069t0004g0000 a0009c0078t0003g0000 a0012c0075t0004g0000 a0013c0072t0007g0000 a0018c0079t0003g0000 a0030c0024t0002g0000 a0035c0011t0002g0000 a0036c0025t0002g0000 a0037c0022t0004g0000 a0039c0084t0004g0000 a0040c0020t0002g0000 a0047c0081t0001g0000 a0049c0047t0004g0000 a0058c0010t0003g0000 a0070c0017t0002g0000	33	41	0.8049	-36	c.39 others(47): Show c.3997_*4032delAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GG	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding		3297		chr22	TogoVar
RIMS2_chr8_103495610_104259430	103834676	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02132.hp1 HG01361.hp2 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0001 a0001c0001t0003 a0001c0004t0001	a0001c0001t0003g0026 a0001c0004t0001g0023 a0001c0001t0003g0026 a0001c0004t0001g0023	2	26	0.0769	-36	c.831 others(55): Show c.831-50588_831-50553delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIMS2_chr8_103495610_104259430	103876875	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01361.hp1 HG01516.hp2 others(16): Show HG00099.hp1 HG01361.hp1 HG01516.hp2 HG01884.hp2 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02602.hp2 HG02647.hp2 HG02683.hp1 HG03486.hp2 HG03710.hp2 HG03942.hp2 HG04199.hp2 NA19030.hp1 NA19056.hp1 NA19083.hp1 NA19091.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0019 a0002c0002 a0002c0021	a0001c0001t0002 a0001c0001t0006 a0001c0003t0001 others(7): Show a0001c0001t0002 a0001c0001t0006 a0001c0003t0001 a0001c0003t0005 a0001c0003t0008 a0001c0003t0009 a0001c0004t0001 a0001c0019t0009 a0002c0002t0002 a0002c0021t0002	a0001c0001t0002g0167 a0001c0001t0006g0169 a0001c0001t0006g0170 others(16): Show a0001c0001t0002g0167 a0001c0001t0006g0169 a0001c0001t0006g0170 a0001c0003t0001g0068 a0001c0003t0001g0125 a0001c0003t0001g0155 a0001c0003t0001g0160 a0001c0003t0001g0165 a0001c0003t0001g0168 a0001c0003t0005g0171 a0001c0003t0008g0014 a0001c0003t0009g0158 a0001c0004t0001g0156 a0001c0004t0001g0164 a0001c0019t0009g0161 a0002c0002t0002g0159 a0002c0002t0002g0162 a0002c0002t0002g0166 a0002c0021t0002g0163	19	169	0.1124	-36	c.831 others(53): Show c.831-8421_831-8386delTATATATATATATATATATATATATATA TATATACA	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIN2_chr20_19753258_20007456	19844590	GCTGCTTC others(29): Show GCTGCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0187 a0002c0003t0002g0187	1	251	0.0040	-36	c.-37 others(55): Show c.-37+44846_-37+44881delGCTTCTTCCTCTTCTTCTTCTTCTTC TTCTTCTTCT	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
RIN2_chr20_19753258_20007456	19844601	CTCTTCTT others(29): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0264 a0001c0002t0013g0264	1	214	0.0047	-36	c.-37 others(55): Show c.-37+44887_-36-44897delTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTC	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
RIOK3_chr18_23448287_23488140	23478606	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00735.hp2 others(33): Show HG00423.hp1 HG00438.hp2 HG00735.hp2 HG00741.hp1 HG01106.hp2 HG01433.hp2 HG02004.hp2 HG02071.hp1 HG02083.hp1 HG02129.hp1 HG02145.hp2 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp2 HG03017.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp2 NA18612.hp1 NA18955.hp1 NA18963.hp2 NA18967.hp2 NA18969.hp2 NA18975.hp2 NA18991.hp2 NA18994.hp2 NA18998.hp1 NA19005.hp2 NA19070.hp2 NA19072.hp1 NA19076.hp1 NA19077.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(31): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0104 a0001c0001t0001g0162 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0002g0322 a0001c0001t0004g0016 a0001c0001t0004g0204 a0001c0001t0004g0208	36	49	0.7347	-36	c.134 others(53): Show c.1345-694_1345-659delATATATATATATATATATATATATATAT ATATATAT	RIOK3	ENSG00000101782.15	transcript	ENST00000339486.8	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
RIOK3_chr18_23448287_23488140	23487525	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	96	0.0104	-36	c.62 others(47): Show c.6247_*6282delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	RIOK3	ENSG00000101782.15	transcript	ENST00000339486.8	protein_coding		4386		chr18	TogoVar
RLF_chr1_40156387_40245921	40200904	ACACACAC others(29): Show ACACACACACACACACACACACACACACACACACACT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0281 a0002c0002t0001g0281	1	336	0.0030	-36	c.608 others(53): Show c.608-1507_608-1472delCACACACACACACACACACACACACACA CACACACT	RLF	ENSG00000117000.9	transcript	ENST00000372771.5	protein_coding	4/7			chr1	TogoVar
RMND5A_chr2_86715291_86783041	86762682	TATATATA others(29): Show TATATATATCATATATATCATATATATCATATATATC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02818.hp2 others(7): Show HG01891.hp2 HG02145.hp2 HG02818.hp2 HG02922.hp1 HG02976.hp2 HG03486.hp2 NA18955.hp2 NA18967.hp1 NA18967.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0009 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0015 a0001c0003t0001 a0001c0005t0010	a0001c0001t0001g0157 a0001c0001t0001g0199 a0001c0001t0009g0097 others(7): Show a0001c0001t0001g0157 a0001c0001t0001g0199 a0001c0001t0009g0097 a0001c0001t0009g0098 a0001c0001t0009g0100 a0001c0001t0015g0099 a0001c0001t0015g0101 a0001c0003t0001g0045 a0001c0003t0001g0047 a0001c0005t0010g0053	10	38	0.2632	-36	c.522 others(53): Show c.522-2318_522-2283delCATATATATCATATATATCATATATATC ATATATAT	RMND5A	ENSG00000153561.13	transcript	ENST00000283632.5	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNASE10_chr14_20500537_20518884	20505261	GCTCCCTC others(29): Show GCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG02809.hp2 HG01257.hp2 HG02809.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0002 a0004c0006t0002 a0001c0001t0002 a0004c0006t0002	a0001c0001t0002g0056 a0004c0006t0002g0056 a0001c0001t0002g0056 a0004c0006t0002g0056	2	30	0.0667	-36	c.-76 others(45): Show c.-763_-728delCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		275		chr14	TogoVar
RND1_chr12_48852145_48870870	48862383	GCAGGCTT others(29): Show GCAGGCTTAATTGGAGATCTACTAGTTTTCTGAGTCC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	398	0.0025	-36	c.209 others(51): Show c.209-301_209-266delGGACTCAGAAAACTAGTAGATCTCCAATTA AGCCTG	RND1	ENSG00000172602.11	transcript	ENST00000309739.6	protein_coding	2/4			chr12	TogoVar
RNF10_chr12_120529356_120582588	120553038	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00609.hp1 others(25): Show HG00323.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG01123.hp1 HG01256.hp2 HG01358.hp1 HG01361.hp1 HG01934.hp2 HG01952.hp1 HG02683.hp1 HG02735.hp1 HG03486.hp2 HG03579.hp1 HG03704.hp1 NA18940.hp1 NA18947.hp2 NA18954.hp2 NA18966.hp1 NA18974.hp2 NA18980.hp1 NA19003.hp1 NA19009.hp2 NA19078.hp1 NA19079.hp1 NA19082.hp2 NA19088.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0005 a0001c0001t0002 a0001c0003t0005	a0001c0001t0002g0012 a0001c0001t0002g0128 a0001c0001t0002g0134 others(24): Show a0001c0001t0002g0012 a0001c0001t0002g0128 a0001c0001t0002g0134 a0001c0001t0002g0139 a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0325 a0001c0001t0002g0334 a0001c0003t0005g0180	28	88	0.3182	-36	c.554 others(51): Show c.554+368_554+403delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RNF10	ENSG00000022840.17	transcript	ENST00000325954.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNF10_chr12_120529356_120582588	120580743	TACTTTTG others(29): Show TACTTTTGACAATTTTTTTCCATATGATGTTAATGTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	370	0.0027	-36	c.40 others(47): Show c.4078_*4113delACTTTTGACAATTTTTTTCCATATGATGTTAATG TA	RNF10	ENSG00000022840.17	transcript	ENST00000325954.9	protein_coding		3156		chr12	TogoVar
RNF114_chr20_49931397_49958885	49948588	CCACCATG others(29): Show CCACCATGCAAGGCTAATTTTTGTATTTTTAGTAGAG	C C	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	424	0.0024	-36	c.514 others(51): Show c.514-659_514-624delCACCATGCAAGGCTAATTTTTGTATTTTTA GTAGAG	RNF114	ENSG00000124226.11	transcript	ENST00000244061.6	protein_coding	4/5			chr20	TogoVar
RNF144B_chr6_18382350_18473870	18386548	AGATTCTT others(29): Show AGATTCTTGTGTCAGAGCGACATTCCTAAATGGCAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0195 a0001c0001t0021g0195	1	384	0.0026	-36	c.-11 others(47): Show c.-1118_-1083delGATTCTTGTGTCAGAGCGACATTCCTAAATGGCA AT	RNF144B	ENSG00000137393.10	transcript	ENST00000259939.4	protein_coding		801		chr6	TogoVar
RNF145_chr5_159152409_159214553	159165698	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	392	0.0026	-36	c.112 others(55): Show c.1122-2655_1122-2620delATTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	RNF145	ENSG00000145860.13	transcript	ENST00000424310.7	protein_coding	8/10			chr5	TogoVar
RNF150_chr4_140854807_141138469	140935028	TTATAATA others(29): Show TTATAATATATATATATAAATATATATATTATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01070.hp1 others(69): Show HG00140.hp2 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01168.hp2 HG01243.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01884.hp2 HG01928.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02055.hp2 HG02129.hp1 HG02145.hp2 HG02451.hp2 HG02615.hp2 HG02622.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18941.hp1 NA18945.hp2 NA18965.hp1 NA18966.hp1 NA18970.hp2 NA18989.hp2 NA18992.hp2 NA18999.hp1 NA19005.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0031 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0041 a0001c0001t0045 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0001t0056 a0001c0001t0059 a0001c0001t0064 a0001c0001t0077 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0084 a0001c0001t0086 a0001c0001t0098 a0001c0001t0101 a0002c0002t0003 a0002c0002t0053 a0002c0002t0097 a0003c0003t0008	a0001c0001t0001g0071 a0001c0001t0001g0091 a0001c0001t0001g0098 others(69): Show a0001c0001t0001g0071 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0002g0009 a0001c0001t0002g0115 a0001c0001t0002g0140 a0001c0001t0003g0022 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0064 a0001c0001t0003g0067 a0001c0001t0004g0042 a0001c0001t0004g0075 a0001c0001t0004g0136 a0001c0001t0005g0065 a0001c0001t0006g0043 a0001c0001t0006g0045 a0001c0001t0006g0111 a0001c0001t0007g0050 a0001c0001t0007g0114 a0001c0001t0008g0038 a0001c0001t0010g0061 a0001c0001t0011g0093 a0001c0001t0012g0084 a0001c0001t0012g0085 a0001c0001t0013g0143 a0001c0001t0015g0031 a0001c0001t0015g0057 a0001c0001t0016g0135 a0001c0001t0016g0139 a0001c0001t0017g0060 a0001c0001t0017g0088 a0001c0001t0017g0154 a0001c0001t0018g0120 a0001c0001t0019g0049 a0001c0001t0020g0003 a0001c0001t0020g0004 a0001c0001t0022g0112 a0001c0001t0023g0149 a0001c0001t0028g0086 a0001c0001t0031g0002 a0001c0001t0034g0157 a0001c0001t0035g0094 a0001c0001t0036g0016 a0001c0001t0039g0074 a0001c0001t0041g0155 a0001c0001t0045g0167 a0001c0001t0047g0058 a0001c0001t0049g0147 a0001c0001t0050g0083 a0001c0001t0052g0056 a0001c0001t0056g0072 a0001c0001t0059g0138 a0001c0001t0064g0100 a0001c0001t0077g0079 a0001c0001t0080g0034 a0001c0001t0081g0129 a0001c0001t0082g0118 a0001c0001t0084g0069 a0001c0001t0086g0063 a0001c0001t0098g0017 a0001c0001t0101g0183 a0002c0002t0003g0172 a0002c0002t0053g0174 a0002c0002t0097g0170 a0003c0003t0008g0048 a0003c0003t0008g0073 a0003c0003t0008g0164	72	173	0.4162	-36	c.891 others(53): Show c.891-8991_891-8956delTATATATAATATATATATTTATATATAT ATATTATA	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	4/6			chr4	TogoVar
RNF150_chr4_140854807_141138469	141000051	AAGAAGAA others(29): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02615.hp2 HG03486.hp2 others(2): Show HG02055.hp1 HG02615.hp2 HG03486.hp2 HG03834.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0036 a0001c0001t0059 others(1): Show a0001c0001t0019 a0001c0001t0036 a0001c0001t0059 a0001c0001t0078	a0001c0001t0019g0024 a0001c0001t0019g0049 a0001c0001t0036g0016 others(2): Show a0001c0001t0019g0024 a0001c0001t0019g0049 a0001c0001t0036g0016 a0001c0001t0059g0138 a0001c0001t0078g0046	5	180	0.0278	-36	c.485 others(55): Show c.485-32214_485-32179delCCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCT	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6			chr4	TogoVar
RNF17_chr13_24759169_24884921	24881944	ATAGATAT others(29): Show ATAGATATATAGATACATCTAGATATATAGATACATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0408 a0005c0005t0001g0408	1	424	0.0024	-36	c.22 others(47): Show c.2219_*2254delTAGATATATAGATACATCTAGATATATAGATACA TC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2024		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882115	TATAGATA others(29): Show TATAGATACATCTATATAGATAGATACATCTATATAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0163 a0001c0008t0001g0163	1	414	0.0024	-36	c.23 others(47): Show c.2390_*2425delATAGATACATCTATATAGATAGATACATCTATAT AG	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2195		chr13	TogoVar
RNF213_chr17_80255852_80403794	80260571	CCGGCGGC others(29): Show CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0027 a0027	a0027c0038 a0027c0038	a0027c0038t0003 a0027c0038t0003	a0027c0038t0003g0007 a0027c0038t0003g0007	1	101	0.0099	-36	c.-43 others(45): Show c.-439_-404delCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding		280		chr17	TogoVar
RNF213_chr17_80255852_80403794	80260631	CCGGCGGC others(29): Show CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG03139.hp1 NA18957.hp2 HG02132.hp1 HG03139.hp1 NA18957.hp2	a0001 a0002 a0076 a0001 a0002 a0076	a0001c0006 a0002c0010 a0076c0119 a0001c0006 a0002c0010 a0076c0119	a0001c0006t0008 a0002c0010t0002 a0076c0119t0031 a0001c0006t0008 a0002c0010t0002 a0076c0119t0031	a0001c0006t0008g0119 a0002c0010t0002g0068 a0076c0119t0031g0246 a0001c0006t0008g0119 a0002c0010t0002g0068 a0076c0119t0031g0246	3	199	0.0151	-36	c.-37 others(45): Show c.-379_-344delCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding		220		chr17	TogoVar
RNF213_chr17_80255852_80403794	80260751	CCGGCGGC others(29): Show CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0040 a0012c0012t0040	a0012c0012t0040g0224 a0012c0012t0040g0224	1	216	0.0046	-36	c.-25 others(45): Show c.-259_-224delCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding		100		chr17	TogoVar
RNF213_chr17_80255852_80403794	80260781	CCGGCGGC others(29): Show CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02897.hp2 HG03486.hp2 HG02486.hp1 HG02897.hp2 HG03486.hp2	a0017 a0018 a0017 a0018	a0017c0033 a0018c0019 a0017c0033 a0018c0019	a0017c0033t0009 a0018c0019t0014 a0017c0033t0009 a0018c0019t0014	a0017c0033t0009g0033 a0018c0019t0014g0017 a0018c0019t0014g0034 a0017c0033t0009g0033 a0018c0019t0014g0017 a0018c0019t0014g0034	3	138	0.0217	-36	c.-22 others(45): Show c.-229_-194delCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding		70		chr17	TogoVar
RNF213_chr17_80255852_80403794	80314228	GAAGGTGA others(29): Show GAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00609.hp2 others(31): Show HG00544.hp1 HG00558.hp1 HG00609.hp2 HG01069.hp1 HG01106.hp1 HG01257.hp1 HG01952.hp2 HG02040.hp1 HG02083.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02622.hp1 HG02818.hp1 HG03139.hp1 HG03453.hp2 HG03831.hp1 NA18945.hp1 NA18946.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18967.hp1 NA18969.hp2 NA18973.hp1 NA18986.hp1 NA19004.hp1 NA19005.hp2 NA19060.hp1 NA19065.hp2 NA19081.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0007 a0020 a0024 a0027 a0076	a0001c0001 a0001c0004 a0001c0006 others(17): Show a0001c0001 a0001c0004 a0001c0006 a0001c0029 a0001c0071 a0001c0072 a0001c0076 a0001c0082 a0001c0125 a0002c0002 a0003c0005 a0003c0030 a0003c0077 a0004c0045 a0006c0009 a0007c0008 a0020c0026 a0024c0023 a0027c0038 a0076c0119	a0001c0001t0019 a0001c0004t0002 a0001c0004t0006 others(26): Show a0001c0001t0019 a0001c0004t0002 a0001c0004t0006 a0001c0004t0010 a0001c0006t0010 a0001c0029t0006 a0001c0029t0010 a0001c0071t0001 a0001c0072t0001 a0001c0076t0010 a0001c0082t0005 a0001c0125t0010 a0002c0002t0005 a0002c0002t0007 a0003c0005t0006 a0003c0005t0010 a0003c0005t0061 a0003c0030t0006 a0003c0077t0022 a0004c0045t0010 a0006c0009t0005 a0006c0009t0007 a0006c0009t0008 a0006c0009t0018 a0007c0008t0004 a0020c0026t0006 a0024c0023t0003 a0027c0038t0003 a0076c0119t0031	a0001c0001t0019g0046 a0001c0004t0002g0054 a0001c0004t0006g0039 others(31): Show a0001c0001t0019g0046 a0001c0004t0002g0054 a0001c0004t0006g0039 a0001c0004t0010g0040 a0001c0006t0010g0043 a0001c0029t0006g0048 a0001c0029t0010g0049 a0001c0071t0001g0052 a0001c0072t0001g0038 a0001c0076t0010g0211 a0001c0082t0005g0227 a0001c0125t0010g0070 a0002c0002t0005g0072 a0002c0002t0007g0050 a0003c0005t0006g0058 a0003c0005t0010g0265 a0003c0005t0061g0044 a0003c0030t0006g0037 a0003c0030t0006g0042 a0003c0077t0022g0056 a0004c0045t0010g0195 a0006c0009t0005g0273 a0006c0009t0007g0051 a0006c0009t0007g0262 a0006c0009t0008g0057 a0006c0009t0018g0272 a0007c0008t0004g0078 a0007c0008t0004g0287 a0020c0026t0006g0138 a0024c0023t0003g0247 a0024c0023t0003g0248 a0027c0038t0003g0007 a0027c0038t0003g0013 a0076c0119t0031g0246	34	283	0.1201	-36	c.281 others(55): Show c.2811+1097_2811+1132delAAAGGTGATGGTGGAGGTACTGGAGG TGATGGTGGT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315402	GTGGTACT others(29): Show GTGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0088 a0088	a0088c0042 a0088c0042	a0088c0042t0004 a0088c0042t0004	a0088c0042t0004g0203 a0088c0042t0004g0203	1	287	0.0035	-36	c.281 others(55): Show c.2812-1781_2812-1746delACTGGAGGTGATGGTGGAGGTAATGG AGGTGATGGT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355674	GGGGAAGA others(29): Show GGGGAAGAAGCGGGGTGACCGGGAATGGGGGCTTACA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0064 a0064	a0064c0144 a0064c0144	a0064c0144t0002 a0064c0144t0002	a0064c0144t0002g0173 a0064c0144t0002g0173	1	290	0.0034	-36	c.108 others(57): Show c.10862+1100_10862+1135delGGAAGAAGCGGGGTGACCGGGAAT GGGGGCTTACAG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF220_chr1_44400255_44656723	44577337	CTCTCCCC others(29): Show CTCTCCCCACTGCCACCTCTCCTCCCAGCTTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01891.hp2 HG02622.hp2 others(4): Show HG00639.hp2 HG01891.hp2 HG02622.hp2 HG02630.hp1 HG02809.hp1 HG02886.hp2 HG02922.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0002c0005t0001	a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0002g0065 others(4): Show a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0002g0065 a0001c0001t0003g0122 a0001c0001t0004g0181 a0001c0001t0007g0017 a0002c0005t0001g0008	7	217	0.0323	-36	c.626 others(55): Show c.626-36797_626-36762delCTCCCTTCTCCCCACTGCCACCTCTC CTCCCAGCTT	RNF220	ENSG00000187147.19	transcript	ENST00000361799.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF223_chr1_1065967_1079306	1069044	CGGGCGAC others(29): Show CGGGCGACCCCACCCCTCCGGACGACCCCACCCCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	322	0.0031	-36	c.27 others(47): Show c.2737_*2772delTGAGGGGTGGGGTCGTCCGGAGGGGTGGGGTCGC CC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		1922		chr1	TogoVar
RNF38_chr9_36331400_36405269	36341793	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0039 a0001c0001t0006g0039	1	372	0.0027	-36	c.148 others(53): Show c.1485+496_1485+531delATATATATATATATATATATATATATAT ATATATAT	RNF38	ENSG00000137075.18	transcript	ENST00000259605.11	protein_coding	11/11			chr9	TogoVar
RNGTT_chr6_88604897_88968618	88739725	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03209.hp2 HG03486.hp2 others(1): Show HG01071.hp1 HG03209.hp2 HG03486.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0127 others(1): Show a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0168	4	36	0.1111	-36	c.143 others(57): Show c.1439+30013_1439+30048delTATATATATATATATATATATATA TATATATATATA	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar
ROBO1_chr3_78592239_79772998	78711424	TTTCTTTC others(29): Show TTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG06807.hp1 HG02717.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0019 a0001c0002t0004g0002 a0001c0002t0001g0019 a0001c0002t0004g0002	2	44	0.0455	-36	c.104 others(55): Show c.1045+2937_1045+2972delGGAAGGAAGGAAGGAAGGAAAGAAAG AAAGAAAGAA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	8/30			chr3	TogoVar
RORA_chr15_60483284_61234302	60515945	ATATTTAT others(29): Show ATATTTATATATTTATATTTATATATATTTATATATT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	109	0.0092	-36	c.283 others(53): Show c.283-1224_283-1189delAATATATAAATATATATAAATATAAATA TATAAATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60597539	ACACACAC others(29): Show ACACACACACAACATATATATATATATATATATATAC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG00735.hp2 others(7): Show HG00621.hp2 HG00735.hp1 HG00735.hp2 HG01515.hp1 HG02004.hp1 HG02055.hp1 HG02165.hp2 HG02602.hp2 HG02717.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0001t0033 a0001c0001t0038 a0001c0001t0051 a0001c0004t0019	a0001c0001t0001g0035 a0001c0001t0002g0059 a0001c0001t0005g0011 others(7): Show a0001c0001t0001g0035 a0001c0001t0002g0059 a0001c0001t0005g0011 a0001c0001t0005g0047 a0001c0001t0013g0067 a0001c0001t0013g0072 a0001c0001t0033g0041 a0001c0001t0038g0044 a0001c0001t0051g0015 a0001c0004t0019g0006	10	111	0.0901	-36	c.197 others(55): Show c.197-65724_197-65689delGTATATATATATATATATATATATGT TGTGTGTGTG	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RORA_chr15_60483284_61234302	61137019	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0107 a0001c0005t0004g0107	1	31	0.0323	-36	c.166 others(55): Show c.166+91998_166+92033delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORB_chr9_74492335_74698177	74532805	TATATATA others(29): Show TATATATATACACATATATATGTGTATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01175.hp2 HG00738.hp1 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0023 a0001c0002t0003 a0001c0002t0023	a0001c0002t0003g0214 a0001c0002t0023g0215 a0001c0002t0003g0214 a0001c0002t0023g0215	2	224	0.0089	-36	c.7+3 others(51): Show c.7+34847_7+34882delATATATATACACATATATATACACATATAT ATGTGT	RORB	ENSG00000198963.11	transcript	ENST00000376896.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RORB_chr9_74492335_74698177	74549535	GGGAGGGA others(29): Show GGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01255.hp2 HG02040.hp1 others(10): Show HG01168.hp1 HG01255.hp2 HG02040.hp1 HG02970.hp2 HG03516.hp2 NA18944.hp1 NA18947.hp1 NA18952.hp2 NA18960.hp1 NA18969.hp2 NA18999.hp2 NA19002.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 a0001c0001 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0016 a0001c0001t0028 a0001c0001t0046 a0001c0005t0006 a0002c0004t0030	a0001c0001t0001g0002 a0001c0001t0001g0190 a0001c0001t0001g0192 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0200 a0001c0001t0001g0219 a0001c0001t0002g0166 a0001c0001t0005g0189 a0001c0001t0005g0201 a0001c0001t0016g0029 a0001c0001t0028g0188 a0001c0001t0046g0094 a0001c0005t0006g0218 a0002c0004t0030g0014	13	193	0.0674	-36	c.7+5 others(51): Show c.7+51556_7+51591delGGGAGGGAGGGAAGGAAGGAAGGAAGGAAG GAAGGA	RORB	ENSG00000198963.11	transcript	ENST00000376896.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar

Search by Variant

Search

Search Results