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
RIC3_chr11_8101056_8174025	8122455	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01943.hp2 HG01257.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0026 a0001c0001t0008g0029 a0001c0001t0008g0026 a0001c0001t0008g0029	2	356	0.0056	30	c.670 others(47): Show c.670+4203_670+4204insTATATATATATATATATATATATATATA TA	RIC3	ENSG00000166405.16	transcript	ENST00000309737.11	protein_coding	5/5			chr11	TogoVar
RIC8B_chr12_106769682_106894316	106785785	G G	GTCTCTCT others(23): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01516.hp2 others(3): Show HG01167.hp1 HG01169.hp1 HG01516.hp2 HG02896.hp2 HG03942.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0001g0061 a0001c0001t0003g0008 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0061 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0015 a0001c0001t0005g0031	6	192	0.0313	30	c.132 others(47): Show c.132+1770_132+1771insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CT	RIC8B	ENSG00000111785.21	transcript	ENST00000392837.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
RICTOR_chr5_38932920_39079399	39006695	A A	AGGGAGAG others(23): Show AGGGAGAGGAGGGGAGAGGAGGGGAGAGGAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01109.hp1 others(32): Show HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01243.hp1 HG01346.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp2 HG03471.hp1 HG03516.hp2 HG03669.hp1 HG04204.hp2 NA18522.hp2 NA18939.hp2 NA18944.hp2 NA18949.hp1 NA18957.hp2 NA18967.hp1 NA18971.hp1 NA18995.hp2 NA18998.hp1 NA19005.hp2 NA19030.hp1 NA19079.hp2 NA19091.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0007 a0002c0003 others(1): Show a0001c0001 a0001c0007 a0002c0003 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0014 a0001c0007t0002 a0002c0003t0005 a0002c0003t0028 a0009c0008t0005	a0001c0001t0001g0061 a0001c0001t0001g0165 a0001c0001t0002g0027 others(32): Show a0001c0001t0001g0061 a0001c0001t0001g0165 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0175 a0001c0001t0010g0060 a0001c0001t0010g0062 a0001c0001t0010g0063 a0001c0001t0014g0039 a0001c0001t0014g0040 a0001c0001t0014g0041 a0001c0007t0002g0035 a0001c0007t0002g0036 a0002c0003t0005g0201 a0002c0003t0005g0204 a0002c0003t0005g0205 a0002c0003t0005g0207 a0002c0003t0005g0209 a0002c0003t0005g0211 a0002c0003t0005g0214 a0002c0003t0005g0217 a0002c0003t0005g0218 a0002c0003t0028g0215 a0009c0008t0005g0203	35	146	0.2397	30	c.196 others(47): Show c.196-3103_196-3074dupCTCCTCTCCCCTCCTCTCCCCTCCTCTC CC	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding	3/37			chr5	TogoVar
RICTOR_chr5_38932920_39079399	39075284	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 NA18963.hp2 NA18977.hp1 HG02080.hp2 NA18963.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0129 a0001c0001t0001g0154 a0001c0001t0001g0110 a0001c0001t0001g0129 a0001c0001t0001g0154	3	33	0.0909	30	c.-90 others(39): Show c.-908_-907insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding		886		chr5	TogoVar
RIDA_chr8_98097344_98122171	98109309	T T	TTAAAAGT others(23): Show TTAAAAGTCAATAATGTGAAGACAAACCCAA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04204.hp2 HG04199.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	2	456	0.0044	30	c.66- others(43): Show c.66-588_66-559dupTTGGGTTTGTCTTCACATTATTGACTTTTA	RIDA	ENSG00000132541.11	transcript	ENST00000254878.8	protein_coding	1/5			chr8	TogoVar
RIGI_chr9_32450302_32531196	32504038	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0324 a0002c0004t0008g0324	1	160	0.0063	30	c.107 others(47): Show c.107-3129_107-3100dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	1/17			chr9	TogoVar
RILPL1_chr12_123465054_123538719	123536912	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03831.hp2 HG03490.hp2 HG03492.hp2 HG03831.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0016 a0001c0004t0030 a0001c0004t0005 a0001c0004t0016 a0001c0004t0030	a0001c0004t0005g0193 a0001c0004t0016g0204 a0001c0004t0030g0194 a0001c0004t0005g0193 a0001c0004t0016g0204 a0001c0004t0030g0194	3	27	0.1111	30	c.-34 others(41): Show c.-3431_-3430insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	RILPL1	ENSG00000188026.13	transcript	ENST00000376874.9	protein_coding		3194		chr12	TogoVar
RILPL1_chr12_123465054_123538719	123537008	C C	CCTCCCTC others(23): Show CCTCCCTCCCTCCCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0170 a0002c0003t0006g0170	1	159	0.0063	30	c.-35 others(41): Show c.-3527_-3526insAGAGAGAGAGAGAGAGAGGGAGGGAGGGAG	RILPL1	ENSG00000188026.13	transcript	ENST00000376874.9	protein_coding		3290		chr12	TogoVar
RIMBP3B_chr22_21378751_21394478	21381775	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG03834.hp1 HG01261.hp1 HG03834.hp1	a0005 a0048 a0005 a0048	a0005c0006 a0048c0029 a0005c0006 a0048c0029	a0005c0006t0001 a0048c0029t0005 a0005c0006t0001 a0048c0029t0005	a0005c0006t0001g0000 a0048c0029t0005g0000 a0005c0006t0001g0000 a0048c0029t0005g0000	2	30	0.0667	30	c.-20 others(41): Show c.-2084_-2083insAAAATAAAATAAAATAAAATAAAATAAAAT	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding		1975		chr22	TogoVar
RIMBP3B_chr22_21378751_21394478	21382945	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 NA20129.hp2 HG02630.hp1 NA20129.hp2	a0032 a0070 a0032 a0070	a0032c0066 a0070c0017 a0032c0066 a0070c0017	a0032c0066t0001 a0070c0017t0002 a0032c0066t0001 a0070c0017t0002	a0032c0066t0001g0000 a0070c0017t0002g0000 a0032c0066t0001g0000 a0070c0017t0002g0000	2	21	0.0952	30	c.-91 others(39): Show c.-914_-913insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding		805		chr22	TogoVar
RIMKLA_chr1_42375792_42429232	42384503	G G	GTATATAT others(23): Show GTATATATGTATATATGTGTGTATATATACA	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19043.hp2 HG02572.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0175 a0001c0001t0030g0176 a0001c0001t0030g0175 a0001c0001t0030g0176	2	354	0.0056	30	c.163 others(47): Show c.163+3422_163+3451dupGTGTGTATATATACATATATATGTATAT AT	RIMKLA	ENSG00000177181.15	transcript	ENST00000431473.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIMKLA_chr1_42375792_42429232	42385844	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0046 a0001c0001t0037g0046	1	193	0.0052	30	c.163 others(47): Show c.163+4750_163+4751insCTCTCTCTCTCTCTCTCTTTCTTTCTTT CT	RIMKLA	ENSG00000177181.15	transcript	ENST00000431473.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIMKLA_chr1_42375792_42429232	42385844	C C	CTCTCTCT others(23): Show CTCTCTCTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	1	193	0.0052	30	c.163 others(47): Show c.163+4750_163+4751insCTCTCTTTCTTTCTTTCTTTCTTTCTTT CT	RIMKLA	ENSG00000177181.15	transcript	ENST00000431473.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIMKLB_chr12_8692991_8782191	8704971	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03195.hp2 HG02965.hp1 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0281 a0001c0002t0013g0282 a0001c0002t0013g0281 a0001c0002t0013g0282	2	177	0.0113	30	c.-57 others(47): Show c.-57+6703_-57+6704insCACACACACACACACACACACACACACA CA	RIMKLB	ENSG00000166532.16	transcript	ENST00000535829.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
RIMOC1_chr5_41899344_41926636	41901253	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	5	0.2000	30	c.-31 others(41): Show c.-3115_-3114insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RIMOC1	ENSG00000205765.10	transcript	ENST00000381647.7	protein_coding		3090		chr5	TogoVar
RIMS1_chr6_71881550_72408145	72093210	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01981.hp2 HG02165.hp1 others(5): Show HG01358.hp1 HG01981.hp2 HG02165.hp1 HG02293.hp2 HG04204.hp1 HG06807.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(5): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0046 a0001c0001t0001g0117 a0001c0002t0001g0064 a0001c0002t0001g0122 a0001c0002t0002g0036	8	80	0.1000	30	c.246 others(47): Show c.246-3721_246-3720insTATATATATATATATATATATATATATA TA	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIMS3_chr1_40615680_40670682	40670574	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0210 a0001c0001t0015g0210	1	43	0.0233	30	c.-53 others(41): Show c.-5388_-5387insTATATATATATATATATATATATATATATA	RIMS3	ENSG00000117016.10	transcript	ENST00000372684.8	protein_coding		4893		chr1	TogoVar
RIN2_chr20_19753258_20007456	19833283	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0176 a0001c0002t0017g0176	1	262	0.0038	30	c.-37 others(49): Show c.-37+33549_-37+33550insATATATATATATATATATATATATAT ATAT	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
RIN3_chr14_92508781_92693994	92561042	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01934.hp1 NA18966.hp2 others(2): Show HG01192.hp2 HG01934.hp1 NA18966.hp2 NA18970.hp2 NA18977.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0005c0006 a0007c0007	a0001c0001t0003 a0002c0002t0001 a0003c0003t0001 others(2): Show a0001c0001t0003 a0002c0002t0001 a0003c0003t0001 a0005c0006t0001 a0007c0007t0001	a0001c0001t0003g0066 a0002c0002t0001g0101 a0003c0003t0001g0059 others(2): Show a0001c0001t0003g0066 a0002c0002t0001g0101 a0003c0003t0001g0059 a0005c0006t0001g0075 a0007c0007t0001g0237	5	255	0.0196	30	c.249 others(47): Show c.249+5088_249+5089insTATATATATATATATATATATATATATA TA	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92561044	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG04199.hp2 HG01346.hp1 HG04199.hp2	a0003 a0007 a0003 a0007	a0003c0003 a0007c0007 a0003c0003 a0007c0007	a0003c0003t0001 a0007c0007t0001 a0003c0003t0001 a0007c0007t0001	a0003c0003t0001g0178 a0007c0007t0001g0083 a0003c0003t0001g0178 a0007c0007t0001g0083	2	80	0.0250	30	c.249 others(47): Show c.249+5090_249+5091insAAAATATATATATATATATATATATATA TA	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92561044	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0247 a0004c0004t0002g0247	1	79	0.0127	30	c.249 others(47): Show c.249+5090_249+5091insAATATATATATATATATATATATATATA TA	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RINT1_chr7_105527201_105572677	105570240	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	200	0.0050	30	c.29 others(41): Show c.2929_*2930insAAAAATATATATATATATATATATATATAT	RINT1	ENSG00000135249.8	transcript	ENST00000257700.7	protein_coding		2564		chr7	TogoVar
RIOK3_chr18_23448287_23488140	23451472	C C	CAAAAGAA others(23): Show CAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01496.hp2 HG01934.hp2 others(12): Show HG00438.hp1 HG01496.hp2 HG01934.hp2 HG01978.hp1 HG02132.hp2 HG02523.hp1 HG02683.hp2 HG02818.hp2 NA18941.hp2 NA18959.hp1 NA18983.hp1 NA19000.hp1 NA19067.hp1 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0129 others(12): Show a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0143 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0003g0198 a0001c0001t0004g0184 a0001c0001t0005g0091 a0001c0001t0008g0254	15	76	0.1974	30	c.-19 others(41): Show c.-1968_-1967insAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	RIOK3	ENSG00000101782.15	transcript	ENST00000339486.8	protein_coding		1814		chr18	TogoVar
RIOK3_chr18_23448287_23488140	23469304	C C	CCTCTCTC others(23): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	356	0.0028	30	c.815 others(47): Show c.815+1782_815+1811dupTCTCTCTCTCTCTCTCTCTCTCTCTCTC TC	RIOK3	ENSG00000101782.15	transcript	ENST00000339486.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
RIOX2_chr3_97936818_97977431	97946586	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0262 a0003c0003t0001g0262	1	116	0.0086	30	c.115 others(47): Show c.1150-700_1150-699insTATATATATATATATATATATATATATA TA	RIOX2	ENSG00000170854.18	transcript	ENST00000394198.7	protein_coding	8/9			chr3	TogoVar
RIPK4_chr21_41734373_41772052	41736022	A A	ACTTCTTC others(23): Show ACTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02056.hp2 HG02922.hp1 others(1): Show HG02055.hp1 HG02056.hp2 HG02922.hp1 NA19055.hp1	a0001 a0001	a0001c0002 a0001c0017 a0001c0030 a0001c0002 a0001c0017 a0001c0030	a0001c0002t0002 a0001c0017t0002 a0001c0030t0027 a0001c0002t0002 a0001c0017t0002 a0001c0030t0027	a0001c0002t0002g0015 a0001c0002t0002g0139 a0001c0017t0002g0322 others(1): Show a0001c0002t0002g0015 a0001c0002t0002g0139 a0001c0017t0002g0322 a0001c0030t0027g0090	4	258	0.0155	30	c.48 others(41): Show c.4815_*4816insAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3350		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(23): Show CTTCTTCTTCTTCTTCTTCTTATTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0002 a0004c0016t0002	a0004c0016t0002g0057 a0004c0016t0002g0057	1	228	0.0044	30	c.47 others(41): Show c.4781_*4782insTAATAATAATAAGAAGAAGAAGAAGAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(23): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 NA19082.hp1 HG03579.hp2 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0183 a0001c0003t0001g0201 a0001c0002t0002g0183 a0001c0003t0001g0201	2	229	0.0087	30	c.47 others(41): Show c.4781_*4782insTAATAAGAAGAAGAAGAAGAAGAAGAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(23): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0066 a0001c0002t0002g0066	1	228	0.0044	30	c.47 others(41): Show c.4781_*4782insTAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RIPOR2_chr6_24799284_24940960	24926965	C C	CCACCACC others(23): Show CCACCACCACCACCACCACCACAACTACAAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0031 a0001c0003t0031	a0001c0003t0031g0026 a0001c0003t0031g0026	1	326	0.0031	30	c.61+ others(45): Show c.61+8872_61+8873insATTGTAGTTGTGGTGGTGGTGGTGGTGGTG	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21			chr6	TogoVar
RIPOR2_chr6_24799284_24940960	24927179	C C	CCACCACT others(23): Show CCACCACTACAACTACAGTTACCACCACCAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0206 a0001c0003t0002g0206	1	326	0.0031	30	c.61+ others(45): Show c.61+8658_61+8659insATGGTGGTGGTAACTGTAGTTGTAGTGGTG	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21			chr6	TogoVar
RIPOR2_chr6_24799284_24940960	24927287	C C	CCACCACT others(23): Show CCACCACTACAGCTACAATCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0287 a0001c0001t0004g0287	1	174	0.0057	30	c.61+ others(45): Show c.61+8550_61+8551insATGGTGGTGGTGATTGTAGCTGTAGTGGTG	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21			chr6	TogoVar
RIPOR3_chr20_50581108_50696542	50682612	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp1 HG02135.hp1 others(6): Show HG00544.hp1 HG00621.hp1 HG02135.hp1 NA18947.hp2 NA18962.hp1 NA18971.hp1 NA19010.hp1 NA19068.hp1 NA19079.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0023 a0002c0002 others(1): Show a0001c0001 a0001c0023 a0002c0002 a0004c0008	a0001c0001t0001 a0001c0023t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0023t0001 a0002c0002t0001 a0002c0002t0002 a0004c0008t0001	a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 others(6): Show a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0023t0001g0144 a0002c0002t0001g0133 a0002c0002t0002g0147 a0002c0002t0002g0149 a0004c0008t0001g0128	9	56	0.1607	30	c.3+8 others(43): Show c.3+8513_3+8514insCACACACACACACACACACACACACACACA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RIT2_chr18_42738227_43120685	42929034	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA19005.hp1 HG01243.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0046 a0001c0002t0001g0065 a0001c0001t0001g0046 a0001c0002t0001g0065	2	30	0.0667	30	c.235 others(47): Show c.235-5272_235-5271insATATATATATATATATATATATATATAT AT	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	3/4			chr18	TogoVar
RLF_chr1_40156387_40245921	40200913	C C	CAGTGGTT others(23): Show CAGTGGTTTATCCTTAGTATAAACCATTGCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0321 a0003c0003t0001g0321	1	336	0.0030	30	c.608 others(47): Show c.608-1498_608-1497insGTGGTTTATCCTTAGTATAAACCATTGC TA	RLF	ENSG00000117000.9	transcript	ENST00000372771.5	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
RLF_chr1_40156387_40245921	40224623	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	55	0.0182	30	c.947 others(47): Show c.947+1915_947+1944dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	RLF	ENSG00000117000.9	transcript	ENST00000372771.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
RMDN3_chr15_40730887_40760254	40741620	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	57	0.0175	30	c.911 others(47): Show c.911-1428_911-1427insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	RMDN3	ENSG00000137824.16	transcript	ENST00000338376.8	protein_coding	6/12			chr15	TogoVar
RNASE8_chr14_21052822_21063455	21057618	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01106.hp1 HG01884.hp1 others(11): Show HG01074.hp2 HG01106.hp1 HG01884.hp1 HG01978.hp1 HG02055.hp1 HG02300.hp1 HG02818.hp2 HG03139.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp2 NA18971.hp1 NA18980.hp2 NA18984.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0002 a0004c0005t0001 a0002c0002t0002 a0004c0005t0001	a0002c0002t0002g0000 a0004c0005t0001g0000 a0002c0002t0002g0000 a0004c0005t0001g0000	14	114	0.1228	30	c.-27 others(39): Show c.-275_-274insATATATATATATATATATATATATATATAT	RNASE8	ENSG00000173431.2	transcript	ENST00000308227.2	protein_coding		203		chr14	TogoVar
RNASE8_chr14_21052822_21063455	21062708	A A	AGTGTGTG others(23): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG02080.hp1 NA18952.hp1 others(1): Show HG00544.hp1 HG02080.hp1 NA18952.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	63	0.0635	30	c.43 others(41): Show c.4351_*4352insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	RNASE8	ENSG00000173431.2	transcript	ENST00000308227.2	protein_coding		4254		chr14	TogoVar
RNASET2_chr6_166917113_166961550	166953879	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0120 a0001c0002t0120	a0001c0002t0120g0226 a0001c0002t0120g0226	1	275	0.0036	30	c.87- others(45): Show c.87-1332_87-1331insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RNASET2	ENSG00000026297.17	transcript	ENST00000508775.6	protein_coding	1/8			chr6	TogoVar
RNF103_chr2_86598398_86628865	86624146	A A	AAATAGAG others(23): Show AAATAGAGCAGTTAATTATTTTATGTAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	400	0.0025	30	c.-12 others(41): Show c.-1261_-1260insATTTTACATAAAATAATTAACTGCTCTATT	RNF103	ENSG00000239305.7	transcript	ENST00000237455.5	protein_coding		282		chr2	TogoVar
RNF128_chrX_106721701_106802016	106763927	T T	TTTTGGTT others(23): Show TTTTGGTTTGGTTTGGTTTGGTTTGGTTTGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	123	0.0081	30	c.485 others(47): Show c.485-8977_485-8948dupGGTTTGGTTTGGTTTGGTTTGGTTTGGT TT	RNF128	ENSG00000133135.14	transcript	ENST00000255499.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
RNF130_chr5_179950067_180076759	179998857	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA18995.hp2 HG00140.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0311 a0001c0001t0001g0303 a0001c0001t0001g0311	2	229	0.0087	30	c.693 others(49): Show c.693+14203_693+14204insTATATATATATATATATATATATATA TATA	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	3/8			chr5	TogoVar
RNF138_chr18_32086874_32136561	32119129	T T	TTGAGGAG others(23): Show TTGAGGAGTCAGTTCTTTGTCTACTGATTTA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA19062.hp1 NA19089.hp2 NA18984.hp2 NA19062.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0018g0105 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0018g0105	3	360	0.0083	30	c.393 others(47): Show c.393-4387_393-4358dupGAGGAGTCAGTTCTTTGTCTACTGATTT AT	RNF138	ENSG00000134758.14	transcript	ENST00000261593.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
RNF141_chr11_10506673_10546187	10539691	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01256.hp2 HG01258.hp2 others(4): Show HG00558.hp2 HG01256.hp2 HG01258.hp2 HG02809.hp2 NA18974.hp2 NA19012.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0046 a0001c0001t0002g0258 a0001c0001t0002g0259 others(3): Show a0001c0001t0002g0046 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0012g0262	7	24	0.2917	30	c.-48 others(47): Show c.-48+1430_-48+1431insATATATATATATATATATATATATATAT AT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF150_chr4_140854807_141138469	141096190	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02615.hp1 HG03453.hp1 others(1): Show HG01243.hp2 HG02615.hp1 HG03453.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0015 a0001c0001t0001 a0001c0001t0009 a0001c0001t0015	a0001c0001t0001g0033 a0001c0001t0009g0133 a0001c0001t0009g0134 others(1): Show a0001c0001t0001g0033 a0001c0001t0009g0133 a0001c0001t0009g0134 a0001c0001t0015g0031	4	19	0.2105	30	c.484 others(49): Show c.484+36134_484+36135insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6			chr4	TogoVar
RNF157_chr17_76137474_76245493	76182760	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01928.hp2 HG02148.hp1 others(2): Show HG00639.hp1 HG01928.hp2 HG02148.hp1 HG03139.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0006t0007	a0001c0001t0001g0143 a0001c0002t0001g0181 a0001c0002t0002g0073 others(2): Show a0001c0001t0001g0143 a0001c0002t0001g0181 a0001c0002t0002g0073 a0001c0002t0002g0189 a0001c0006t0007g0015	5	99	0.0505	30	c.208 others(47): Show c.208-8971_208-8970insATATATATATATATATATATATATATAT AT	RNF157	ENSG00000141576.16	transcript	ENST00000269391.11	protein_coding	2/18			chr17	TogoVar
RNF17_chr13_24759169_24884921	24797705	A A	AGTTTGTG others(23): Show AGTTTGTGTGTCTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18987.hp1 HG02896.hp1 NA18987.hp1	a0003 a0005 a0003 a0005	a0003c0006 a0005c0005 a0003c0006 a0005c0005	a0003c0006t0001 a0005c0005t0001 a0003c0006t0001 a0005c0005t0001	a0003c0006t0001g0182 a0005c0005t0001g0095 a0003c0006t0001g0182 a0005c0005t0001g0095	2	98	0.0204	30	c.139 others(49): Show c.1399+1412_1399+1413insTTGTGTGTCTGTGTGTGTGTGTGTGT GTGT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding	11/35		INFO_REALIGN_3_PRIME	chr13	TogoVar
RNF17_chr13_24759169_24884921	24823484	T T	TTGTACTC others(23): Show TTGTACTCAGCCAATGATTGTACTCAGCTAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01515.hp2 HG01517.hp2 HG00280.hp1 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0054 a0001c0002t0001g0064 a0001c0002t0001g0065	3	424	0.0071	30	c.209 others(49): Show c.2092-2125_2092-2124insCAATGATTGTACTCAGCTAATGTACT CAGC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding	15/35		INFO_REALIGN_3_PRIME	chr13	TogoVar
RNF17_chr13_24759169_24884921	24858575	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	60	0.0167	30	c.361 others(47): Show c.3611-408_3611-407insATATATATATATATATATATATATATAT AT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding	25/35		INFO_REALIGN_3_PRIME	chr13	TogoVar

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