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
RIMS2_chr8_103495610_104259430	103933288	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	172	0.0058	18	c.260 others(37): Show c.2600+1925_2600+1942dupCACACACACACACACACA	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	14/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIMS2_chr8_103495610_104259430	104079598	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0114 a0008c0017t0001g0114	1	172	0.0058	18	c.369 others(39): Show c.3693+11013_3693+11030dupATATATATATATATATAT	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	23/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIMS2_chr8_103495610_104259430	104106037	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0091 a0001c0001t0004g0091	1	172	0.0058	18	c.386 others(39): Show c.3866+12405_3866+12422dupAAAAAAAAAAAAAAAAAA	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	24/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIMS2_chr8_103495610_104259430	104248891	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	172	0.0058	18	c.436 others(33): Show c.4363+82_4363+99dupCTCTCTCTCTCTCTCTCT	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	27/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIMS3_chr1_40615680_40670682	40617239	A A	ATCCTTTT others(11): Show ATCCTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG02895.hp1 HG00621.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0003 a0001c0001t0008g0033 a0001c0001t0002g0003 a0001c0001t0008g0033	2	376	0.0053	18	c.92 others(29): Show c.9277_*9278insAAAAAAAAAAAAAAAGGA	RIMS3	ENSG00000117016.10	transcript	ENST00000372684.8	protein_coding		3440		chr1	TogoVar
RIMS3_chr1_40615680_40670682	40617242	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG03225.hp1 HG02083.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0294 a0001c0001t0001g0082 a0001c0001t0001g0294	2	376	0.0053	18	c.92 others(29): Show c.9274_*9275insAAAAAAAAAAAAAAAAAA	RIMS3	ENSG00000117016.10	transcript	ENST00000372684.8	protein_coding		3437		chr1	TogoVar
RIMS3_chr1_40615680_40670682	40670574	T T	TTATATAT others(11): Show TTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG01069.hp1 HG01071.hp1 others(13): Show HG00544.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01361.hp1 HG01361.hp2 HG01943.hp1 HG01952.hp2 HG02132.hp1 HG02257.hp1 HG02273.hp1 HG03098.hp1 NA18947.hp2 NA18982.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0021	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0021 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0080 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0002g0008 a0001c0001t0003g0037 a0001c0001t0004g0226 a0001c0001t0005g0274 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0012g0212 a0001c0001t0012g0218 a0001c0001t0021g0149	16	376	0.0426	18	c.-53 others(29): Show c.-5388_-5387insTATATATATATATATATA	RIMS3	ENSG00000117016.10	transcript	ENST00000372684.8	protein_coding		4893		chr1	TogoVar
RIMS4_chr20_44746808_44815546	44815026	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG02258.hp1 HG02615.hp2 others(2): Show HG01123.hp2 HG02258.hp1 HG02615.hp2 HG02922.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0084 a0001c0001t0004 a0001c0001t0006 a0001c0001t0084	a0001c0001t0004g0053 a0001c0001t0004g0059 a0001c0001t0004g0060 others(2): Show a0001c0001t0004g0053 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0006g0311 a0001c0001t0084g0315	5	382	0.0131	18	c.-47 others(29): Show c.-4756_-4755insCACACACACACACACACA	RIMS4	ENSG00000101098.13	transcript	ENST00000372851.8	protein_coding		4481		chr20	TogoVar
RIN2_chr20_19753258_20007456	19844692	C C	CTCTTCTT others(11): Show CTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0253 a0001c0001t0039g0253	1	276	0.0036	18	c.-36 others(37): Show c.-36-44869_-36-44868insTTCTTCTTCTTCTTCTTC	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
RIN3_chr14_92508781_92693994	92518789	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01943.hp1 HG02056.hp1 others(5): Show HG00597.hp2 HG01943.hp1 HG02056.hp1 HG02129.hp1 HG02622.hp2 HG04199.hp2 NA18966.hp2 NA18999.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0021	a0001c0001 a0002c0002 a0002c0030 others(4): Show a0001c0001 a0002c0002 a0002c0030 a0003c0003 a0004c0004 a0005c0006 a0021c0043	a0001c0001t0003 a0002c0002t0003 a0002c0030t0001 others(4): Show a0001c0001t0003 a0002c0002t0003 a0002c0030t0001 a0003c0003t0001 a0004c0004t0001 a0005c0006t0001 a0021c0043t0002	a0001c0001t0003g0066 a0002c0002t0003g0177 a0002c0030t0001g0189 others(5): Show a0001c0001t0003g0066 a0002c0002t0003g0177 a0002c0030t0001g0189 a0003c0003t0001g0067 a0003c0003t0001g0178 a0004c0004t0001g0065 a0005c0006t0001g0064 a0021c0043t0002g0018	8	334	0.0240	18	c.44+ others(33): Show c.44+4833_44+4850dupGTGTGTGTGTGTGTGTGT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92537634	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02293.hp1 NA19054.hp1 HG01433.hp2 HG02293.hp1 NA19054.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002	a0002c0002t0001g0106 a0003c0003t0001g0093 a0003c0003t0002g0262 a0002c0002t0001g0106 a0003c0003t0001g0093 a0003c0003t0002g0262	3	334	0.0090	18	c.45- others(35): Show c.45-18107_45-18090dupTTTTTTTTTTTTTTTTTT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92582310	T T	TGAAAATA others(11): Show TGAAAATATGATGAAAACC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0001 a0008c0020t0001	a0008c0020t0001g0329 a0008c0020t0001g0330 a0008c0020t0001g0329 a0008c0020t0001g0330	2	334	0.0060	18	c.367 others(35): Show c.367+4834_367+4851dupGAAAATATGATGAAAACC	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92661723	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03834.hp1 NA18522.hp2 HG03098.hp2 HG03834.hp1 NA18522.hp2	a0006 a0009 a0011 a0006 a0009 a0011	a0006c0005 a0009c0008 a0011c0011 a0006c0005 a0009c0008 a0011c0011	a0006c0005t0001 a0009c0008t0001 a0011c0011t0001 a0006c0005t0001 a0009c0008t0001 a0011c0011t0001	a0006c0005t0001g0196 a0009c0008t0001g0305 a0011c0011t0001g0250 a0006c0005t0001g0196 a0009c0008t0001g0305 a0011c0011t0001g0250	3	334	0.0090	18	c.233 others(37): Show c.2335+2273_2335+2290dupCACACACACACACACACA	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RINT1_chr7_105527201_105572677	105570240	A A	AAAATATA others(11): Show AAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	368	0.0027	18	c.29 others(29): Show c.2929_*2930insAAATATATATATATATAT	RINT1	ENSG00000135249.8	transcript	ENST00000257700.7	protein_coding		2564		chr7	TogoVar
RIOK1_chr6_7384808_7423037	7396892	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp1 HG02723.hp2 others(1): Show HG02258.hp2 HG02717.hp1 HG02723.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 others(1): Show a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130	4	374	0.0107	18	c.437 others(33): Show c.437+131_437+148dupGTGTGTGTGTGTGTGTGT	RIOK1	ENSG00000124784.9	transcript	ENST00000379834.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIOK2_chr5_97155867_97188247	97180142	G G	GTATGTAT others(11): Show GTATGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01257.hp1 HG01192.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	2	410	0.0049	18	c.67- others(31): Show c.67-950_67-949insTATATATATATATACATA	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK3_chr18_23448287_23488140	23468867	T T	TCAGGGTT others(11): Show TCAGGGTTTCACAAGCCTG	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	402	0.0025	18	c.815 others(35): Show c.815+1345_815+1362dupGGTTTCACAAGCCTGCAG	RIOK3	ENSG00000101782.15	transcript	ENST00000339486.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
RIOK3_chr18_23448287_23488140	23469399	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02809.hp2 HG02896.hp1 others(2): Show HG02451.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 others(2): Show a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0003g0239	5	402	0.0124	18	c.815 others(35): Show c.815+1876_815+1877insTCTCTCTCTCTCTCCCTC	RIOK3	ENSG00000101782.15	transcript	ENST00000339486.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
RIOK3_chr18_23448287_23488140	23480555	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18957.hp2 NA18981.hp2 HG02486.hp1 NA18957.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0164 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0164	3	402	0.0075	18	c.145 others(35): Show c.1453-598_1453-581dupCACACACACACACACACA	RIOK3	ENSG00000101782.15	transcript	ENST00000339486.8	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
RIOX2_chr3_97936818_97977431	97946586	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0180 a0003c0003t0001g0180	1	370	0.0027	18	c.115 others(35): Show c.1150-717_1150-700dupTATATATATATATATATA	RIOX2	ENSG00000170854.18	transcript	ENST00000394198.7	protein_coding	8/9			chr3	TogoVar
RIOX2_chr3_97936818_97977431	97946602	A A	ATATATAT others(11): Show ATATATATATATCTATATC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 NA20300.hp1 HG01891.hp2 HG02055.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0210 a0001c0001t0008g0272 a0001c0001t0008g0276 a0001c0001t0008g0210 a0001c0001t0008g0272 a0001c0001t0008g0276	3	370	0.0081	18	c.115 others(35): Show c.1150-716_1150-715insGATATAGATATATATATA	RIOX2	ENSG00000170854.18	transcript	ENST00000394198.7	protein_coding	8/9			chr3	TogoVar
RIOX2_chr3_97936818_97977431	97972611	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 NA18522.hp1 HG02970.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0035 a0001c0001t0001g0006 a0001c0001t0001g0035	2	370	0.0054	18	c.-27 others(27): Show c.-271_-270insAAAAAAAAAAAAAAAAAA	RIOX2	ENSG00000170854.18	transcript	ENST00000394198.7	protein_coding		181		chr3	TogoVar
RIPK1_chr6_3063494_3120187	3076699	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02071.hp1 HG02132.hp1 others(6): Show HG01978.hp1 HG02071.hp1 HG02132.hp1 HG02280.hp2 HG02698.hp1 HG03579.hp2 NA18944.hp2 NA18951.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0102 a0001c0001t0001g0279 a0001c0002t0001g0174 others(6): Show a0001c0001t0001g0102 a0001c0001t0001g0279 a0001c0002t0001g0174 a0001c0002t0001g0206 a0001c0002t0002g0030 a0001c0002t0002g0069 a0001c0002t0002g0110 a0001c0002t0002g0144 a0001c0002t0002g0239	9	340	0.0265	18	c.-60 others(31): Show c.-60-55_-60-38dupTATATATATATATATATA	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3081860	T T	TTAAAAAA others(11): Show TTAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0044 a0001c0001t0013g0044	1	340	0.0029	18	c.459 others(33): Show c.459+744_459+745insTAAAAAAAAAAAAAAAAA	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	4/10			chr6	TogoVar
RIPK4_chr21_41734373_41772052	41736022	A A	ACTTCTTC others(11): Show ACTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02723.hp1 NA19030.hp2 HG02145.hp1 HG02723.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0002 a0001c0009t0002 a0001c0002t0002 a0001c0009t0002	a0001c0002t0002g0318 a0001c0009t0002g0077 a0001c0009t0002g0323 a0001c0002t0002g0318 a0001c0009t0002g0077 a0001c0009t0002g0323	3	448	0.0067	18	c.48 others(29): Show c.4815_*4816insAAGAAGAAGAAGAAGAAG	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3350		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTATTAT others(11): Show CTTATTATTATTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0057 a0001c0002t0002g0057	1	448	0.0022	18	c.47 others(29): Show c.4781_*4782insTAATAATAATAATAATAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTAT others(11): Show CTTCTTATTATTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0283 a0001c0002t0002g0283	1	448	0.0022	18	c.47 others(29): Show c.4781_*4782insTAATAATAATAATAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(11): Show CTTCTTCTTCTTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03209.hp1 HG03041.hp1 HG03209.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0015 a0001c0002 a0004c0015	a0001c0002t0002 a0004c0015t0002 a0001c0002t0002 a0004c0015t0002	a0001c0002t0002g0320 a0004c0015t0002g0049 a0001c0002t0002g0320 a0004c0015t0002g0049	2	448	0.0045	18	c.47 others(29): Show c.4781_*4782insTAATAATAAGAAGAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(11): Show CTTCTTCTTCTTCTTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02486.hp1 NA18522.hp1 HG01167.hp1 HG02486.hp1 NA18522.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0009 a0004c0015 a0001c0002 a0001c0009 a0004c0015	a0001c0002t0002 a0001c0009t0002 a0004c0015t0002 a0001c0002t0002 a0001c0009t0002 a0004c0015t0002	a0001c0002t0002g0012 a0001c0009t0002g0322 a0004c0015t0002g0050 a0001c0002t0002g0012 a0001c0009t0002g0322 a0004c0015t0002g0050	3	448	0.0067	18	c.47 others(29): Show c.4781_*4782insTAATAAGAAGAAGAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(11): Show CTTCTTCTTCTTCTTCTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG03225.hp2 others(1): Show HG02895.hp2 HG02897.hp1 HG03225.hp2 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0002 a0001c0002t0015 a0001c0009t0002 a0001c0002t0002 a0001c0002t0015 a0001c0009t0002	a0001c0002t0002g0319 a0001c0002t0015g0055 a0001c0002t0015g0056 others(1): Show a0001c0002t0002g0319 a0001c0002t0015g0055 a0001c0002t0015g0056 a0001c0009t0002g0324	4	448	0.0089	18	c.47 others(29): Show c.4781_*4782insTAAGAAGAAGAAGAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RIPOR3_chr20_50581108_50696542	50609980	A A	ACCACCCC others(11): Show ACCACCCCTGCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(145): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp1 HG03017.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19010.hp1 NA19012.hp1 NA19055.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0007 a0008 a0015 a0016 a0017	a0001c0001 a0001c0018 a0001c0023 others(10): Show a0001c0001 a0001c0018 a0001c0023 a0001c0028 a0001c0030 a0001c0034 a0002c0002 a0004c0008 a0007c0035 a0008c0017 a0015c0019 a0016c0032 a0017c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0018t0001 a0001c0023t0001 a0001c0028t0002 a0001c0030t0001 a0001c0034t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0004c0008t0001 a0004c0008t0002 a0007c0035t0001 a0008c0017t0001 a0015c0019t0001 a0016c0032t0001 a0017c0014t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(145): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0002g0010 a0001c0001t0002g0021 a0001c0001t0002g0041 a0001c0001t0002g0106 a0001c0001t0002g0160 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0267 a0001c0001t0002g0279 a0001c0001t0006g0002 a0001c0018t0001g0137 a0001c0023t0001g0144 a0001c0028t0002g0087 a0001c0030t0001g0079 a0001c0034t0001g0059 a0002c0002t0001g0061 a0002c0002t0001g0108 a0002c0002t0001g0133 a0002c0002t0001g0154 a0002c0002t0001g0172 a0002c0002t0001g0175 a0002c0002t0001g0261 a0002c0002t0002g0006 a0002c0002t0002g0012 a0002c0002t0002g0026 a0002c0002t0002g0062 a0002c0002t0002g0091 a0002c0002t0002g0117 a0002c0002t0002g0147 a0002c0002t0002g0159 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0168 a0002c0002t0002g0173 a0002c0002t0002g0185 a0002c0002t0002g0207 a0002c0002t0002g0216 a0002c0002t0002g0280 a0002c0002t0003g0105 a0002c0002t0003g0252 a0002c0002t0005g0001 a0002c0002t0007g0273 a0004c0008t0001g0128 a0004c0008t0001g0136 a0004c0008t0002g0170 a0007c0035t0001g0238 a0008c0017t0001g0078 a0015c0019t0001g0064 a0016c0032t0001g0197 a0017c0014t0001g0077	148	280	0.5286	18	c.427 others(33): Show c.427-259_427-258insCAGGGGAGGCAGGGGTGG	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	6/21			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50615108	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp1 HG06807.hp2 HG00741.hp1 HG01243.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0122 a0001c0001t0001g0233 a0001c0001t0001g0102 a0001c0001t0001g0122 a0001c0001t0001g0233	3	280	0.0107	18	c.348 others(33): Show c.348+876_348+893dupACACACACACACACACAC	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	4/21			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50679131	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	280	0.0036	18	c.3+1 others(33): Show c.3+11994_3+11995insATATATATATATATATAT	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50679149	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0024 a0001c0004t0002g0024	1	280	0.0036	18	c.3+1 others(33): Show c.3+11976_3+11977insGTATATATATATATATAT	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50682612	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00621.hp2 others(81): Show HG00140.hp1 HG00423.hp1 HG00621.hp2 HG00639.hp1 HG00741.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp1 HG01433.hp2 HG01516.hp2 HG01884.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02258.hp2 HG02486.hp1 HG02738.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03486.hp1 HG03654.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp2 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18962.hp2 NA18970.hp1 NA18971.hp2 NA18979.hp1 NA18983.hp1 NA18986.hp1 NA18995.hp2 NA19002.hp2 NA19005.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19055.hp2 NA19064.hp2 NA19070.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA19087.hp1 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0006 a0008 a0015 a0017	a0001c0001 a0001c0003 a0001c0004 others(13): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0021 a0001c0028 a0001c0030 a0001c0034 a0002c0002 a0002c0026 a0005c0012 a0006c0013 a0008c0017 a0015c0019 a0017c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 a0001c0004t0002 a0001c0006t0002 a0001c0007t0002 a0001c0021t0002 a0001c0028t0002 a0001c0030t0001 a0001c0034t0001 a0002c0002t0001 a0002c0002t0002 a0002c0026t0001 a0005c0012t0001 a0006c0013t0001 a0008c0017t0001 a0015c0019t0001 a0017c0014t0001	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 others(81): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0120 a0001c0001t0002g0010 a0001c0001t0002g0021 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0003g0119 a0001c0003t0002g0053 a0001c0004t0002g0024 a0001c0006t0002g0030 a0001c0007t0002g0044 a0001c0021t0002g0047 a0001c0028t0002g0087 a0001c0030t0001g0079 a0001c0034t0001g0059 a0002c0002t0001g0007 a0002c0002t0001g0023 a0002c0002t0001g0033 a0002c0002t0001g0052 a0002c0002t0001g0057 a0002c0002t0001g0061 a0002c0002t0001g0067 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0080 a0002c0002t0002g0004 a0002c0002t0002g0006 a0002c0002t0002g0012 a0002c0002t0002g0050 a0002c0002t0002g0062 a0002c0026t0001g0036 a0005c0012t0001g0042 a0006c0013t0001g0076 a0008c0017t0001g0078 a0015c0019t0001g0064 a0017c0014t0001g0077	84	280	0.3000	18	c.3+8 others(31): Show c.3+8513_3+8514insCACACACACACACACACA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50694766	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	280	0.0036	18	c.-36 others(29): Show c.-3639_-3638insCTTTCTTTCTTTCTTTCT	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding		3225		chr20	TogoVar
RIPPLY3_chr21_37001702_37024662	37007400	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02615.hp1 HG01099.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0251 a0002c0002t0006g0252 a0002c0002t0006g0251 a0002c0002t0006g0252	2	434	0.0046	18	c.104 others(33): Show c.104+533_104+550dupTTTTTTTTTTTTTTTTTT	RIPPLY3	ENSG00000183145.9	transcript	ENST00000329553.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
RIT2_chr18_42738227_43120685	42837153	C C	CTTTTCTT others(11): Show CTTTTCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	240	0.0042	18	c.426 others(37): Show c.426+86418_426+86419insAAAAAAAAAAAAAGAAAA	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	4/4			chr18	TogoVar
RIT2_chr18_42738227_43120685	42929034	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02040.hp1 HG02040.hp2 others(10): Show HG01891.hp2 HG02040.hp1 HG02040.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02735.hp1 HG02818.hp2 HG02965.hp1 HG03195.hp1 HG03579.hp2 NA18985.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0058 a0001c0001t0001g0201 others(10): Show a0001c0001t0001g0010 a0001c0001t0001g0058 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0002g0226 a0001c0001t0002g0232 a0001c0001t0002g0238 a0001c0001t0003g0006 a0001c0002t0001g0054 a0001c0002t0001g0088 a0001c0002t0001g0095 a0001c0002t0001g0202 a0001c0002t0001g0205	13	240	0.0542	18	c.235 others(35): Show c.235-5289_235-5272dupATATATATATATATATAT	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	3/4			chr18	TogoVar
RITA1_chr12_113180721_113197368	113194666	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0059 a0001c0001t0015g0059	1	386	0.0026	18	c.28 others(29): Show c.2849_*2850insTTTTTTTTTTTTTTTTTT	RITA1	ENSG00000139405.16	transcript	ENST00000548278.2	protein_coding		2299		chr12	TogoVar
RLBP1_chr15_89204869_89226579	89205128	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG03492.hp2 HG03710.hp1 others(4): Show HG02572.hp2 HG03492.hp2 HG03710.hp1 NA19087.hp1 NA19087.hp2 NA19240.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0027 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0027 a0001c0001t0001g0056 a0001c0001t0002g0101	7	414	0.0169	18	c.51 others(29): Show c.5156_*5157insGAGAGAGAGAGAGAGAGA	RLBP1	ENSG00000140522.12	transcript	ENST00000268125.10	protein_coding		4740		chr15	TogoVar
RLBP1_chr15_89204869_89226579	89205168	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 NA19064.hp2 HG03927.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0133 a0001c0001t0001g0013 a0001c0001t0001g0133	2	414	0.0048	18	c.51 others(29): Show c.5116_*5117insAAGAGAGAGAGAGAGAGA	RLBP1	ENSG00000140522.12	transcript	ENST00000268125.10	protein_coding		4700		chr15	TogoVar
RLBP1_chr15_89204869_89226579	89205179	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18999.hp1 NA18999.hp2 others(1): Show NA18956.hp2 NA18999.hp1 NA18999.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0079 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0079 a0001c0001t0010g0054	4	414	0.0097	18	c.51 others(29): Show c.5105_*5106insGGAGAGAGAGAGAGAGAG	RLBP1	ENSG00000140522.12	transcript	ENST00000268125.10	protein_coding		4689		chr15	TogoVar
RLF_chr1_40156387_40245921	40221899	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02735.hp1 HG04115.hp1 others(1): Show HG02083.hp2 HG02735.hp1 HG04115.hp1 NA18985.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0176 a0004c0004t0001g0177 a0004c0004t0001g0184 others(1): Show a0004c0004t0001g0176 a0004c0004t0001g0177 a0004c0004t0001g0184 a0004c0004t0001g0302	4	338	0.0118	18	c.811 others(33): Show c.811-673_811-656dupAAAAAAAAAAAAAAAAAA	RLF	ENSG00000117000.9	transcript	ENST00000372771.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
RLF_chr1_40156387_40245921	40224623	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	338	0.0030	18	c.947 others(35): Show c.947+1927_947+1944dupTTTTTTTTTTTTTTTTTT	RLF	ENSG00000117000.9	transcript	ENST00000372771.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
RLN3_chr19_14023148_14036551	14029806	A A	AATTATTA others(11): Show AATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA19030.hp2 HG02109.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0027 a0001c0003t0001g0034 a0001c0001t0001g0027 a0001c0003t0001g0034	2	428	0.0047	18	c.191 others(33): Show c.191-885_191-868dupATTATTATTATTATTATT	RLN3	ENSG00000171136.7	transcript	ENST00000431365.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr19	TogoVar
RMDN3_chr15_40730887_40760254	40741620	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01255.hp2 NA18522.hp1 others(1): Show HG00741.hp2 HG01255.hp2 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0155 a0001c0001t0001g0171 a0001c0001t0001g0234 others(1): Show a0001c0001t0001g0155 a0001c0001t0001g0171 a0001c0001t0001g0234 a0001c0001t0005g0270	4	404	0.0099	18	c.911 others(35): Show c.911-1445_911-1428dupAAAAAAAAAAAAAAAAAA	RMDN3	ENSG00000137824.16	transcript	ENST00000338376.8	protein_coding	6/12			chr15	TogoVar
RMND1_chr6_151399762_151457126	151452655	A A	AGCGGAGG others(11): Show AGCGGAGGGCGCCCGCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0014 a0004c0010t0014	a0004c0010t0014g0371 a0004c0010t0014g0371	1	392	0.0026	18	c.-67 others(27): Show c.-672_-655dupGGAGCGGGCGCCCTCCGC	RMND1	ENSG00000155906.20	transcript	ENST00000444024.3	protein_coding		530		chr6	TogoVar
RMND5A_chr2_86715291_86783041	86716899	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 NA18954.hp2 HG02273.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0148 a0001c0001t0001g0003 a0001c0001t0001g0148	2	304	0.0066	18	c.-37 others(29): Show c.-3769_-3768insAAAAAAAAAAAAAAAAAA	RMND5A	ENSG00000153561.13	transcript	ENST00000283632.5	protein_coding		3391		chr2	TogoVar
RMND5A_chr2_86715291_86783041	86737574	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02055.hp2 HG02717.hp1 others(6): Show HG00642.hp1 HG02055.hp2 HG02717.hp1 HG02723.hp2 HG02895.hp1 HG02970.hp2 HG03098.hp1 HG03453.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 a0001c0001t0001 a0001c0001t0004 a0001c0001t0021	a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0094 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0004g0091 a0001c0001t0021g0006	9	304	0.0296	18	c.143 others(35): Show c.143-3350_143-3333dupATATATATATATATATAT	RMND5A	ENSG00000153561.13	transcript	ENST00000283632.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results