JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RABGAP1L_chr1_174154520_175000308	174327990	T T	TATATATA others(23): Show TATATATACATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03540.hp1 HG02970.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0204 a0001c0001t0010g0211 a0001c0001t0010g0204 a0001c0001t0010g0211	2	272	0.0074	30	c.146 others(51): Show c.1465+22870_1465+22871insCATATATATATATATATATACACA TATATA		RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174327992	T T	TATATACA others(23): Show TATATACATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0203 a0001c0001t0010g0203	1	272	0.0037	30	c.146 others(51): Show c.1465+22870_1465+22871insCATATATATATATATATATATACA CATATA		RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174327994	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0210 a0001c0002t0003g0210	1	272	0.0037	30	c.146 others(51): Show c.1465+22892_1465+22893insCACACATATATATATATATATATA TATATA		RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174327994	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0194 a0001c0002t0003g0194	1	272	0.0037	30	c.146 others(51): Show c.1465+22894_1465+22895insCACATATATATATATATATATATA TATATA		RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174364243	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0174 a0001c0002t0003g0174	1	272	0.0037	30	c.146 others(49): Show c.1466-6707_1466-6706insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174416035	T T	TATATATA others(23): Show TATATATATATATATATATACACACATATAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp1 HG03471.hp2 HG01069.hp1 HG01243.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0154 a0001c0001t0014g0155 a0001c0001t0014g0156 a0001c0001t0014g0154 a0001c0001t0014g0155 a0001c0001t0014g0156	3	272	0.0110	30	c.171 others(51): Show c.1710+21891_1710+21892insTATATATATATATATATACACACA TATACA		RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174416035	T T	TATATATA others(23): Show TATATATATATATATATATATACACATATAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01192.hp2 HG01256.hp1 others(9): Show HG01123.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01517.hp2 HG01934.hp1 HG01978.hp2 HG02293.hp1 HG03516.hp1 NA18957.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0092 others(9): Show a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0131 a0001c0001t0002g0136	12	272	0.0441	30	c.171 others(51): Show c.1710+21891_1710+21892insTATATATATATATATATATACACA TATACA		RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174438744	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0025 a0001c0002t0003g0025	1	272	0.0037	30	c.171 others(51): Show c.1710+44603_1710+44632dupATATATATATATATATATATATAT ATATAT		RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174550983	C C	CATATATA others(23): Show CATATATATATACATATGTATATATACATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0140 a0001c0001t0005g0140	1	272	0.0037	30	c.171 others(51): Show c.1711-86381_1711-86380insCATATGTATATATACATATATATA TATATA		RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174763650	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0237 a0001c0001t0004g0237	1	272	0.0037	30	c.221 others(51): Show c.2211+11305_2211+11334dupAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA		RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	18/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174937619	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02109.hp2 others(1): Show HG01070.hp1 HG01071.hp1 HG02109.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0005 a0001c0001t0007 a0002c0003t0025 a0001c0001t0005 a0001c0001t0007 a0002c0003t0025	a0001c0001t0005g0001 a0001c0001t0007g0216 a0001c0001t0007g0219 others(1): Show a0001c0001t0005g0001 a0001c0001t0007g0216 a0001c0001t0007g0219 a0002c0003t0025g0082	4	272	0.0147	30	c.234 others(51): Show c.2341-19822_2341-19821insATATATATATATATATATATATAT ATATAT		RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
RAC2_chr22_37220270_37249269	37245780	A A	AAATAATA others(23): Show AAATAATAATAATAATAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG03139.hp1 HG03453.hp1 others(1): Show HG02896.hp1 HG03139.hp1 HG03453.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0007 a0001c0002t0003 a0001c0002t0007	a0001c0002t0003g0004 a0001c0002t0007g0190 a0001c0002t0003g0004 a0001c0002t0007g0190	4	448	0.0089	30	c.-16 others(41): Show c.-1633_-1632insATTATTATTATTATTATTATTATTATTATT		RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding					1512		chr22	TogoVar
RACGAP1_chr12_49984162_50030494	49991457	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	324	0.0031	30	c.171 others(47): Show c.1714+540_1714+541insTATATATATATATATATATATATATATA TA		RACGAP1	ENSG00000161800.13	transcript	ENST00000312377.10	protein_coding	15/16						chr12	TogoVar
RACGAP1_chr12_49984162_50030494	49991479	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0030 a0002c0003t0001g0030	1	324	0.0031	30	c.171 others(47): Show c.1714+518_1714+519insAAAAAAAAAATATATATATATATATATA TA		RACGAP1	ENSG00000161800.13	transcript	ENST00000312377.10	protein_coding	15/16						chr12	TogoVar
RACGAP1_chr12_49984162_50030494	49991479	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0031 a0002c0003t0001g0031	1	324	0.0031	30	c.171 others(47): Show c.1714+518_1714+519insAAAAAAAAAAAATATATATATATATATA TA		RACGAP1	ENSG00000161800.13	transcript	ENST00000312377.10	protein_coding	15/16						chr12	TogoVar
RAD18_chr3_8872075_8968472	8967240	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG03486.hp1 HG03540.hp2 HG02280.hp1 HG03486.hp1 HG03540.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0014 a0001c0001 a0008c0014	a0001c0001t0006 a0008c0014t0003 a0001c0001t0006 a0008c0014t0003	a0001c0001t0006g0252 a0001c0001t0006g0258 a0008c0014t0003g0253 a0001c0001t0006g0252 a0001c0001t0006g0258 a0008c0014t0003g0253	3	348	0.0086	30	c.-38 others(41): Show c.-3856_-3855insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		RAD18	ENSG00000070950.10	transcript	ENST00000264926.7	protein_coding					3769		chr3	TogoVar
RAD21L1_chr20_1221044_1260876	1221366	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG02896.hp1 others(1): Show HG02145.hp2 HG02258.hp2 HG02896.hp1 HG03486.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0004 a0005c0006 a0002c0002 a0003c0004 a0005c0006	a0002c0002t0005 a0003c0004t0003 a0005c0006t0003 a0002c0002t0005 a0003c0004t0003 a0005c0006t0003	a0002c0002t0005g0007 a0003c0004t0003g0034 a0005c0006t0003g0031 a0002c0002t0005g0007 a0003c0004t0003g0034 a0005c0006t0003g0031	4	364	0.0110	30	c.-48 others(41): Show c.-4807_-4806insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT		RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding					4677		chr20	TogoVar
RAD51B_chr14_67814779_68483093	67818085	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTGTTTGTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	84	0.0119	30	c.-17 others(41): Show c.-1771_-1770insTTTTTTTTTTTTGTTTGTTTTTTTTTTTTT		RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding					1693		chr14	TogoVar
RAD51B_chr14_67814779_68483093	68260298	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02258.hp1 HG03540.hp1 others(1): Show HG01192.hp2 HG02258.hp1 HG03540.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0061 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0061 a0001c0001t0002g0059	4	84	0.0476	30	c.757 others(49): Show c.757-31565_757-31564insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG		RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
RADIL_chr7_4792055_4888716	4809016	G G	GCCCCCCC others(23): Show GCCCCCCCGCGTCCCCTTCCGACGCCACTGC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0007 a0006c0010t0007	a0006c0010t0007g0146 a0006c0010t0007g0146	1	292	0.0034	30	c.214 others(49): Show c.2140-3301_2140-3300insGCAGTGGCGTCGGAAGGGGACGCGGG GGGG		RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	9/14						chr7	TogoVar
RAE1_chr20_57346255_57384202	57350882	G G	GGGGGCGG others(23): Show GGGGGCGGGGGGGGCGGGGGGGCGGGGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01258.hp2 HG01516.hp2 others(2): Show HG00323.hp1 HG01258.hp2 HG01516.hp2 HG01517.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	5	342	0.0146	30	c.-54 others(39): Show c.-548_-547insGGGGCGGGGGGGGCGGGGGGGCGGGGGGAC		RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding					372		chr20	TogoVar
RAI14_chr5_34651328_34837612	34665178	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0198 a0002c0002t0002g0198	1	254	0.0039	30	c.-49 others(47): Show c.-49+8713_-49+8714insATATATATATATATATATATATATATAT AT		RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
RAI1_chr17_17676458_17816453	17808414	A A	ATTTTATT others(23): Show ATTTTATTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0019 a0002c0002t0013g0019	1	252	0.0040	30	c.566 others(47): Show c.5660-974_5660-973insTTATTATTTTATTTTATTTTATTTTATT TT		RAI1	ENSG00000108557.20	transcript	ENST00000353383.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr17	TogoVar
RALGAPA1_chr14_35533356_35814295	35541040	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18998.hp2 HG02735.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0174 a0001c0002t0001g0179 a0001c0002t0001g0174 a0001c0002t0001g0179	2	272	0.0074	30	c.24 others(47): Show c.24-1351_*24-1350insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		RALGAPA1	ENSG00000174373.17	transcript	ENST00000680220.1	protein_coding	41/41						chr14	TogoVar
RALGAPA1_chr14_35533356_35814295	35811774	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0069 a0002c0001t0001g0069	1	272	0.0037	30	c.-29 others(41): Show c.-2940_-2939insATATATATATATATATATATATATATATAT		RALGAPA1	ENSG00000174373.17	transcript	ENST00000680220.1	protein_coding					2480		chr14	TogoVar
RALGAPA2_chr20_20384530_20717644	20516477	T T	TGGCTGAA others(23): Show TGGCTGAATGACCTCAGCTATCACCACTGCC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0073 a0001c0003t0001g0073	1	122	0.0082	30	c.408 others(49): Show c.4085-3223_4085-3194dupGGCAGTGGTGATAGCTGAGGTCATTC AGCC		RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	31/39						chr20	TogoVar
RALGDS_chr9_133092722_133126240	133105830	C C	CGCCCCAG others(23): Show CGCCCCAGCCCCCGCCCCAGCCCCCGCCCCA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0258 a0001c0005t0001g0258	1	424	0.0024	30	c.160 others(46): Show c.1602+72_1602+101dupTGGGGCGGGGGCTGGGGCGGGGGCTGGGG C		RALGDS	ENSG00000160271.16	transcript	ENST00000372050.8	protein_coding	9/17						chr9	TogoVar
RALGDS_chr9_133092722_133126240	133108184	T T	TCCAGAGC others(23): Show TCCAGAGCTGGCGCTGGAGCCGATTCTAGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02735.hp1 HG02735.hp1	a0006 a0006	a0006c0034 a0006c0034	a0006c0034t0001 a0006c0034t0001	a0006c0034t0001g0146 a0006c0034t0001g0146	1	424	0.0024	30	c.971 others(38): Show c.971_1000dupGACTAGAATCGGCTCCAGCGCCAGCTCTGG	p.Gly others(13): Show p.Gly324_Leu333dup	RALGDS	ENSG00000160271.16	transcript	ENST00000372050.8	protein_coding	6/18	1086/3696	1000/2745	334/914			chr9	TogoVar
RALGPS1_chr9_126909782_127228166	127188832	T T	TTAAAAAA others(23): Show TTAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02258.hp2 others(4): Show HG01167.hp2 HG01169.hp2 HG02258.hp2 HG03017.hp2 HG03239.hp2 NA18980.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0144 a0001c0001t0001g0145 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0234 a0001c0001t0001g0243	7	276	0.0254	30	c.911 others(47): Show c.911-6259_911-6258insTAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		RALGPS1	ENSG00000136828.19	transcript	ENST00000259351.10	protein_coding	11/18						chr9	TogoVar
RALGPS2_chr1_178720244_178926840	178856202	G G	GAGAGATA others(23): Show GAGAGATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0075 a0001c0001t0021g0076 a0001c0001t0021g0075 a0001c0001t0021g0076	2	306	0.0065	30	c.608 others(49): Show c.608-21295_608-21294insGAGATATATATATATATATATATATA TATA		RALGPS2	ENSG00000116191.19	transcript	ENST00000367635.8	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
RALYL_chr8_84178274_84926844	84223209	C C	CTCCCTTC others(23): Show CTCCCTTCCCTTCCCTTCCCTTCCCTTCCCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	82	0.0122	30	c.-24 others(49): Show c.-24+38794_-24+38823dupCTTCCCTTCCCTTCCCTTCCCTTCCC TTCC		RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84342277	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	82	0.0122	30	c.-24 others(51): Show c.-24+157872_-24+157873insTATATATATATATATATATATATA TATATA		RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84357757	G G	GTATATAT others(23): Show GTATATATATAAATATATATATTTATATATT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01168.hp2 HG02055.hp2 others(4): Show HG00140.hp2 HG01168.hp2 HG02055.hp2 HG03486.hp2 HG03579.hp2 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0051 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0051 a0001c0001t0001g0067 a0001c0001t0002g0049 a0001c0001t0003g0059 a0001c0001t0015g0064	7	82	0.0854	30	c.-23 others(51): Show c.-23-171532_-23-171503dupAAATATATATATTTATATATTTAT ATATAT		RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84478918	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02647.hp1 NA18964.hp1 HG02145.hp2 HG02647.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0001 a0001c0001t0003 a0001c0001t0009	a0001c0001t0001g0078 a0001c0001t0003g0041 a0001c0001t0009g0050 a0001c0001t0001g0078 a0001c0001t0003g0041 a0001c0001t0009g0050	3	82	0.0366	30	c.-23 others(49): Show c.-23-50381_-23-50380insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA		RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8						chr8	TogoVar
RALYL_chr8_84178274_84926844	84732683	T T	TATATATA others(23): Show TATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0059	1	82	0.0122	30	c.257 others(49): Show c.257-41895_257-41894insTATATATATATATATATATACACACA CACA		RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84732683	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19240.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0048 a0001c0001t0017g0027 a0001c0001t0001g0048 a0001c0001t0017g0027	2	82	0.0244	30	c.257 others(49): Show c.257-41895_257-41894insTATATATATATATATATATATATATA CACA		RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
RANBP17_chr5_170857018_171305015	171277637	G G	GTATGTAT others(23): Show GTATGTATATGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0067 a0001c0001t0004g0067	1	192	0.0052	30	c.294 others(51): Show c.2943+11793_2943+11794insGTATATGTATATATATATATATAT ATATAT		RANBP17	ENSG00000204764.14	transcript	ENST00000523189.6	protein_coding	25/27					INFO_REALIGN_3_PRIME	chr5	TogoVar
RANBP2_chr2_108714482_108790809	108750556	C C	CCTTTTCT others(23): Show CCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	232	0.0043	30	c.127 others(47): Show c.1274-688_1274-659dupTCTTTTCTTTTCTTTTCTTTTCTTTTCT TT		RANBP2	ENSG00000153201.17	transcript	ENST00000283195.11	protein_coding	9/28					INFO_REALIGN_3_PRIME	chr2	TogoVar
RAP1GAP2_chr17_2791438_3042741	2889889	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0006 a0001c0001t0077g0006	1	218	0.0046	30	c.81- others(47): Show c.81-15394_81-15393insATATATATATATATATATATATTTTTTT TT		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP_chr1_21591221_21674357	21660339	C C	CTATTTAT others(23): Show CTATTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG03492.hp2 HG01943.hp2 HG03492.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0003t0001 a0001c0004t0001	a0001c0003t0001g0070 a0001c0004t0001g0071 a0001c0003t0001g0070 a0001c0004t0001g0071	2	372	0.0054	30	c.-14 others(49): Show c.-149+8914_-149+8915insTATATATATATATATATATATATATA AATA		RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24						chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660345	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA19240.hp2 HG03209.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0304 a0001c0003t0002g0305 a0001c0003t0002g0304 a0001c0003t0002g0305	2	372	0.0054	30	c.-14 others(49): Show c.-149+8908_-149+8909insAATATATATATATATATATATATATA TATA		RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24						chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660345	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0009 a0002c0001t0009	a0002c0001t0009g0309 a0002c0001t0009g0309	1	372	0.0027	30	c.-14 others(49): Show c.-149+8908_-149+8909insAATAAATATATATATATATATATATA TATA		RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24						chr1	TogoVar
RAP1GDS1_chr4_98256384_98448858	98363478	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0004	1	242	0.0041	30	c.361 others(49): Show c.361+10904_361+10905insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA		RAP1GDS1	ENSG00000138698.15	transcript	ENST00000408927.8	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr4	TogoVar
RAPGEF4_chr2_172730845_173057893	172841791	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	178	0.0056	30	c.444 others(49): Show c.444+27392_444+27393insACACACACACACACACACACACACAC ACAC		RAPGEF4	ENSG00000091428.18	transcript	ENST00000397081.8	protein_coding	4/30					INFO_REALIGN_3_PRIME	chr2	TogoVar
RAPGEF4_chr2_172730845_173057893	172897732	C C	CTATTTTA others(23): Show CTATTTTATTTTATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02257.hp2 others(4): Show HG01891.hp1 HG02109.hp2 HG02257.hp2 HG02622.hp1 HG02896.hp1 NA19083.hp1 NA19083.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0009 others(1): Show a0001c0001 a0001c0002 a0003c0009 a0003c0010	a0001c0001t0001 a0001c0002t0002 a0003c0009t0001 others(1): Show a0001c0001t0001 a0001c0002t0002 a0003c0009t0001 a0003c0010t0002	a0001c0001t0001g0071 a0001c0001t0001g0086 a0001c0001t0001g0145 others(4): Show a0001c0001t0001g0071 a0001c0001t0001g0086 a0001c0001t0001g0145 a0001c0001t0001g0166 a0001c0002t0002g0023 a0003c0009t0001g0178 a0003c0010t0002g0041	7	178	0.0393	30	c.445 others(49): Show c.445-20064_445-20035dupTATTTTATTTTATTTTATTTTATTTT ATTT		RAPGEF4	ENSG00000091428.18	transcript	ENST00000397081.8	protein_coding	4/30					INFO_REALIGN_3_PRIME	chr2	TogoVar
RAPGEF5_chr7_22113236_22362154	22115184	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	330	0.0030	30	c.72 others(41): Show c.7221_*7222insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT		RAPGEF5	ENSG00000136237.20	transcript	ENST00000665637.1	protein_coding					3051		chr7	TogoVar
RAPGEF6_chr5_131418921_131640229	131445493	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0157 a0001c0001t0028g0157	1	324	0.0031	30	c.342 others(47): Show c.3421+989_3421+990insCACACACACACACACACACACACACACA CA		RAPGEF6	ENSG00000158987.22	transcript	ENST00000509018.6	protein_coding	22/27						chr5	TogoVar
RAPH1_chr2_203428682_203540301	203506866	A A	ATCTATAT others(23): Show ATCTATATCTATATATCTATATATATATATC	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18949.hp2 NA18995.hp2 HG02451.hp2 NA18949.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0008 a0001c0001 a0001c0007 a0001c0008	a0001c0001t0011 a0001c0007t0082 a0001c0008t0014 a0001c0001t0011 a0001c0007t0082 a0001c0008t0014	a0001c0001t0011g0023 a0001c0007t0082g0260 a0001c0008t0014g0077 a0001c0001t0011g0023 a0001c0007t0082g0260 a0001c0008t0014g0077	3	290	0.0103	30	c.1-1 others(45): Show c.1-11514_1-11513insGATATATATATATAGATATATAGATATAGA		RAPH1	ENSG00000173166.18	transcript	ENST00000319170.10	protein_coding	1/13						chr2	TogoVar
RARB_chr3_25423263_25602932	25494250	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	290	0.0035	30	c.307 others(47): Show c.307-6930_307-6929insACACACACACACACACACACACACACAC AC		RARB	ENSG00000077092.20	transcript	ENST00000330688.9	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
RARB_chr3_25423263_25602932	25494250	T T	TACACACA others(23): Show TACACACACACGCACGCGCGCGCACACACAC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	290	0.0035	30	c.307 others(47): Show c.307-6930_307-6929insACACACACGCACGCGCGCGCACACACAC AC		RARB	ENSG00000077092.20	transcript	ENST00000330688.9	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)