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
PTPRT_chr20_42067756_43194906	42276496	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02109.hp1 HG02809.hp2 others(2): Show HG00140.hp1 HG02109.hp1 HG02809.hp2 HG03209.hp2 NA19240.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0001 a0002c0014 others(2): Show a0001c0003 a0002c0001 a0002c0014 a0002c0015 a0004c0006	a0001c0003t0020 a0002c0001t0010 a0002c0014t0007 others(2): Show a0001c0003t0020 a0002c0001t0010 a0002c0014t0007 a0002c0015t0001 a0004c0006t0008	a0001c0003t0020g0047 a0002c0001t0010g0024 a0002c0014t0007g0004 others(2): Show a0001c0003t0020g0047 a0002c0001t0010g0024 a0002c0014t0007g0004 a0002c0015t0001g0013 a0004c0006t0008g0054	5	21	0.2381	-42	c.217 others(61): Show c.2176+5951_2176+5992delATATATATATATATATATATATATAT ATATATATATATATAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	13/30			chr20	TogoVar
PTPRZ1_chr7_121868161_122067036	122000646	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	37	0.0270	-42	c.124 others(61): Show c.1240+2655_1240+2696delATATATATATATATATATATATATAT ATATATATATATATAT	PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	10/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTTG1IP_chr21_44844598_44878690	44877976	CTTGTTCC others(35): Show CTTGTTCCCAAGTGCTGCAAAGACACAGCACTCGAACATAAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	442	0.0023	-42	c.-44 others(53): Show c.-4402_-4361delATTTATGTTCGAGTGCTGTGTCTTTGCAGCACTT GGGAACAA	PTTG1IP	ENSG00000183255.12	transcript	ENST00000330938.8	protein_coding		4287		chr21	TogoVar
PUSL1_chr1_1303597_1316677	1315752	GAGCGAGG others(35): Show GAGCGAGGGAGGTGGGGGCGGGGAGGGAGGGAGGGAGGCGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01069.hp2 HG01106.hp1 others(6): Show HG00733.hp1 HG01069.hp2 HG01106.hp1 HG02109.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG04228.hp2 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0012 a0007c0010 a0001c0001 a0001c0012 a0007c0010	a0001c0001t0001 a0001c0012t0001 a0007c0010t0001 a0001c0001t0001 a0001c0012t0001 a0007c0010t0001	a0001c0001t0001g0002 a0001c0012t0001g0002 a0007c0010t0001g0002 a0001c0001t0001g0002 a0001c0012t0001g0002 a0007c0010t0001g0002	9	350	0.0257	-42	c.43 others(53): Show c.4374_*4415delAGCGAGGGAGGTGGGGGCGGGGAGGGAGGGAGGG AGGCGGGC	PUSL1	ENSG00000169972.13	transcript	ENST00000379031.10	protein_coding		4076		chr1	TogoVar
PWWP3A_chr19_1349959_1383429	1368937	CCCCGGTG others(35): Show CCCCGGTGCCCACCTGCGTTCAGATCAGCCCAAGCCATCGGGT	C C	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0112 a0002c0003t0002g0112	1	410	0.0024	-42	c.142 others(59): Show c.1423-324_1423-283delGGTGCCCACCTGCGTTCAGATCAGCCCA AGCCATCGGGTCCC	PWWP3A	ENSG00000160953.17	transcript	ENST00000591337.7	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PXDN_chr2_1626887_1749515	1703692	GCGGGGGA others(35): Show GCGGGGGACAGCTCCAGGTGAAGGGGGGGCAACTCCAGGTGAA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0007 a0007	a0007c0048 a0007c0048	a0007c0048t0001 a0007c0048t0001	a0007c0048t0001g0322 a0007c0048t0001g0322	1	279	0.0036	-42	c.201 others(61): Show c.201-10600_201-10559delTTCACCTGGAGTTGCCCCCCCTTCAC CTGGAGCTGTCCCCCG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXMP2_chr12_132682587_132709985	132693113	CAGTTAGT others(35): Show CAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTGAGCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02630.hp1 HG02717.hp1 others(1): Show HG01243.hp1 HG02630.hp1 HG02717.hp1 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0025 a0001c0004t0004g0042 a0001c0004t0004g0043 a0001c0004t0004g0025 a0001c0004t0004g0042 a0001c0004t0004g0043	4	347	0.0115	-42	c.237 others(59): Show c.237-2749_237-2708delAGCCAGTTAGTGAGCTCCCTTAGTTAGT TAGTGAGCTCCCTT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
PXMP2_chr12_132682587_132709985	132694415	TTAGTGAG others(35): Show TTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTAGC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02630.hp1 others(6): Show HG01109.hp1 HG01243.hp1 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp1 HG03225.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0005 a0001c0004t0004 a0001c0004t0005	a0001c0004t0004g0025 a0001c0004t0004g0026 a0001c0004t0004g0042 others(2): Show a0001c0004t0004g0025 a0001c0004t0004g0026 a0001c0004t0004g0042 a0001c0004t0004g0043 a0001c0004t0005g0012	9	348	0.0259	-42	c.237 others(59): Show c.237-1468_237-1427delTAGTGAGCTCCCTTAGCCAGTTAGTTAG TGAGCTCCCTTAGC	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4			chr12	TogoVar
PXYLP1_chr3_141226825_141299924	141248601	ATATACAC others(35): Show ATATACACACGTATATATACACACACGTATATATACACACGTG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02257.hp2 HG02615.hp2 others(1): Show HG00438.hp1 HG02257.hp2 HG02615.hp2 NA18906.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0016 a0004c0015 a0001c0001 a0001c0016 a0004c0015	a0001c0001t0001 a0001c0001t0003 a0001c0016t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0016t0005 a0004c0015t0003	a0001c0001t0001g0250 a0001c0001t0003g0066 a0001c0016t0005g0265 others(1): Show a0001c0001t0001g0250 a0001c0001t0003g0066 a0001c0016t0005g0265 a0004c0015t0003g0266	4	255	0.0157	-42	c.-53 others(61): Show c.-53-11517_-53-11476delCACACGTATATATACACACACGTATA TATACACACGTGTATA	PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PYURF_chr4_88515998_88528776	88528707	ATTTCTTT others(35): Show ATTTCTTTATTAAGGGCCTCATCAATTTATTCTGTCTTTCCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0016 a0002c0004t0001g0016	1	444	0.0023	-42	c.-50 others(53): Show c.-5049_-5008delGTGGAAAGACAGAATAAATTGATGAGGCCCTTAA TAAAGAAA	PYURF	ENSG00000145337.5	transcript	ENST00000273968.5	protein_coding		4932		chr4	TogoVar
R3HDM4_chr19_891503_918219	892874	AGCCCCGA others(35): Show AGCCCCGAGCCCCGCGCCCCGCGCCCCGCGCCCCGCGCCCCGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0056	1	392	0.0026	-42	c.45 others(53): Show c.4521_*4562delGCGGGGCGCGGGGCGCGGGGCGCGGGGCGCGGGG CTCGGGGC	R3HDM4	ENSG00000198858.10	transcript	ENST00000361574.10	protein_coding		3628		chr19	TogoVar
RAB26_chr16_2143625_2159165	2144874	TGCCGGCC others(35): Show TGCCGGCCCCCGCCTTGCCCTCGCCGGCCCCCGCCTTGCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	327	0.0031	-42	c.-39 others(53): Show c.-3909_-3868delGCCGGCCCCCGCCTTGCCCTCGCCGGCCCCCGCC TTGCCCTC	RAB26	ENSG00000167964.13	transcript	ENST00000210187.11	protein_coding		3750		chr16	TogoVar
RAB3C_chr5_58578075_58864394	58756345	TGTTATAT others(35): Show TGTTATATATATATATAACATATATATATAACTACTATATAAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0216 a0001c0001t0059g0216	1	218	0.0046	-42	c.371 others(61): Show c.371+30226_371+30267delGTTATATATATATATAACATATATAT ATAACTACTATATAAC	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	3/4			chr5	TogoVar
RAB40B_chr17_82649973_82703698	82676269	ACACACAG others(35): Show ACACACAGTGAGGGCACCCCTCACCTTCAACAGCCTCTCCCTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00735.hp1 others(40): Show HG00099.hp1 HG00323.hp1 HG00735.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01928.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02040.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02683.hp2 HG02735.hp1 HG03688.hp1 HG03704.hp1 HG03834.hp2 HG06807.hp1 NA18942.hp1 NA18954.hp2 NA18962.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18980.hp2 NA18983.hp2 NA18990.hp1 NA18994.hp2 NA19012.hp2 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0022 a0001c0001t0027 a0001c0001t0039 a0003c0007t0004	a0001c0001t0001g0054 a0001c0001t0001g0219 a0001c0001t0002g0165 others(39): Show a0001c0001t0001g0054 a0001c0001t0001g0219 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0224 a0001c0001t0003g0168 a0001c0001t0003g0209 a0001c0001t0003g0213 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0319 a0001c0001t0003g0324 a0001c0001t0004g0010 a0001c0001t0004g0110 a0001c0001t0004g0113 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0210 a0001c0001t0004g0212 a0001c0001t0004g0214 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0307 a0001c0001t0004g0321 a0001c0001t0004g0323 a0001c0001t0005g0320 a0001c0001t0010g0211 a0001c0001t0010g0222 a0001c0001t0010g0306 a0001c0001t0011g0223 a0001c0001t0022g0225 a0001c0001t0027g0322 a0001c0001t0039g0216 a0003c0007t0004g0327	43	336	0.1280	-42	c.143 others(61): Show c.143-11755_143-11714delGAGGGAGAGGCTGTTGAAGGTGAGGG GTGCCCTCACTGTGTG	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RAB40C_chr16_585066_634268	599555	TGTCAGCG others(35): Show TGTCAGCGTGGATTCAGCAAGGTTTTGTTCCCTCGTGGCATCA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp2 HG02717.hp1 others(4): Show HG01884.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp1 HG03209.hp1 HG03471.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 others(4): Show a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0006g0029	7	348	0.0201	-42	c.142 others(59): Show c.142+9151_142+9192delCCCTCGTGGCATCAGTCAGCGTGGATTC AGCAAGGTTTTGTT	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB40C_chr16_585066_634268	631768	TCCCACCC others(35): Show TCCCACCCTCTCCTCCCATCCACTCCTCCCATCCACTTCTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0153 a0001c0001t0007g0153	1	344	0.0029	-42	c.41 others(53): Show c.4147_*4188delCCCACCCTCTCCTCCCATCCACTCCTCCCATCCA CTTCTTCC	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding		2501		chr16	TogoVar
RAB44_chr6_36692826_36738184	36734313	CAGAGAGA others(35): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02630.hp1 HG02886.hp1 others(2): Show HG02615.hp1 HG02630.hp1 HG02886.hp1 HG03041.hp2 NA19043.hp2	a0002 a0020 a0002 a0020	a0002c0005 a0002c0018 a0020c0028 a0002c0005 a0002c0018 a0020c0028	a0002c0005t0008 a0002c0018t0008 a0020c0028t0021 a0002c0005t0008 a0002c0018t0008 a0020c0028t0021	a0002c0005t0008g0278 a0002c0005t0008g0279 a0002c0005t0008g0280 others(2): Show a0002c0005t0008g0278 a0002c0005t0008g0279 a0002c0005t0008g0280 a0002c0018t0008g0258 a0020c0028t0021g0292	5	161	0.0311	-42	c.22 others(53): Show c.2221_*2262delAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAG	RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding		1130		chr6	TogoVar
RAB4A_chr1_229266111_229310894	229302269	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02165.hp1 HG02647.hp2 HG00438.hp1 HG02165.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0061 a0001c0001t0001g0028 a0001c0001t0001g0061	3	397	0.0076	-42	c.542 others(57): Show c.542-591_542-550delATATATATATATATATATATATATATATAT ATATATATATTT	RAB4A	ENSG00000168118.12	transcript	ENST00000366690.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB5IF_chr20_36600779_36617557	36609177	ACACACAC others(35): Show ACACACACACACACACACGCACACACGCACACACGCACACACG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02809.hp2 HG00673.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0023 a0001c0001t0002g0002 a0001c0001t0001g0023 a0001c0001t0002g0002	2	396	0.0051	-42	c.219 others(57): Show c.219-406_219-365delGCACACACGCACACACGCACACACGCACAC ACACACACACAC	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB7B_chr1_205971740_206008395	206007089	TGTGGCTT others(35): Show TGTGGCTTAGGCATCACTTTCACACTGCAGCCTCCACTACTCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	328	0.0030	-42	c.-38 others(53): Show c.-3895_-3854delTGAGTAGTGGAGGCTGCAGTGTGAAAGTGATGCC TAAGCCAC	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding		3695		chr1	TogoVar
RABAC1_chr19_41951683_41964321	41956053	CGCTGCAT others(35): Show CGCTGCATCTATCTAGGCTGTTCGTGCAGGCCTAGAGTGGCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	366	0.0027	-42	c.75 others(51): Show c.751_*792delAAGCCACTCTAGGCCTGCACGAACAGCCTAGATAGA TGCAGC	RABAC1	ENSG00000105404.11	transcript	ENST00000222008.11	protein_coding		629		chr19	TogoVar
RABEP2_chr16_28899421_28930238	28926853	TATGAACG others(35): Show TATGAACGGATATTTCACTGCTGTCACAGGTGGCAATATGTGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	364	0.0027	-42	c.-17 others(53): Show c.-1732_-1691delGCACATATTGCCACCTGTGACAGCAGTGAAATAT CCGTTCAT	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding		1616		chr16	TogoVar
RABGEF1_chr7_66735733_66816464	66757878	TGGGATTA others(35): Show TGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACCAAAACA	T T	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	398	0.0025	-42	c.-17 others(61): Show c.-17-14004_-17-13963delGGGATTACAGGCGTGAGCCACTGCGC CCGGCCGACCAAAACA	RABGEF1	ENSG00000154710.18	transcript	ENST00000284957.9	protein_coding	1/8			chr7	TogoVar
RABL6_chr9_136802948_136846187	136817490	AGGGGAGG others(35): Show AGGGGAGGCCGACGTGGGCTGAGGGGAGGCCGACGTGGGCTGT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	323	0.0031	-42	c.131 others(59): Show c.131-5951_131-5910delTGGGGAGGCCGACGTGGGCTGAGGGGAG GCCGACGTGGGCTG	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
RAC3_chr17_82026678_82039204	82034806	TGGTCCCG others(35): Show TGGTCCCGGGATTGGAGTCACTCGGGATTGGAGGGTGCCATGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 NA20752.hp2 HG03139.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0004g0001 a0001c0001t0001g0001 a0001c0001t0004g0001	2	400	0.0050	-42	c.97 others(52): Show c.978_*1019delGGTCCCGGGATTGGAGTCACTCGGGATTGGAGGGT GCCATGA	RAC3	ENSG00000169750.9	transcript	ENST00000306897.9	protein_coding		603		chr17	TogoVar
RAC3_chr17_82026678_82039204	82034897	GGGATTGG others(35): Show GGGATTGGAGTCACTCGGGATTGGAAGGTGCCATGAGGTTCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	402	0.0025	-42	c.10 others(53): Show c.1069_*1110delGGATTGGAGTCACTCGGGATTGGAAGGTGCCATG AGGTTCCA	RAC3	ENSG00000169750.9	transcript	ENST00000306897.9	protein_coding		694		chr17	TogoVar
RAD54L2_chr3_51533719_51673660	51607911	CGGCTGGC others(35): Show CGGCTGGCCGGGCGGGGGCTGCCCCCCTCCTCCCGGACGGGGT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp2 HG02109.hp2 others(9): Show HG01074.hp1 HG01243.hp2 HG02109.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0022 a0001c0001t0029 others(3): Show a0001c0001t0018 a0001c0001t0022 a0001c0001t0029 a0001c0001t0038 a0001c0001t0039 a0001c0001t0060	a0001c0001t0018g0146 a0001c0001t0018g0147 a0001c0001t0018g0148 others(9): Show a0001c0001t0018g0146 a0001c0001t0018g0147 a0001c0001t0018g0148 a0001c0001t0018g0151 a0001c0001t0022g0002 a0001c0001t0022g0150 a0001c0001t0022g0239 a0001c0001t0029g0002 a0001c0001t0029g0149 a0001c0001t0038g0012 a0001c0001t0039g0011 a0001c0001t0060g0089	12	274	0.0438	-42	c.139 others(61): Show c.139+17364_139+17405delCGGGGGCTGCCCCCCTCCTCCCGGAC GGGGTGGCTGGCCGGG	RAD54L2	ENSG00000164080.14	transcript	ENST00000684192.1	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
RADIL_chr7_4792055_4888716	4807609	TTCTCTCT others(35): Show TTCTCTCTCCCCCCGTCTCCCCTCCCTCCTCCCGCTCCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03453.hp1 HG02922.hp2 HG03453.hp1	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0035 a0003c0024t0054 a0003c0024t0035 a0003c0024t0054	a0003c0024t0035g0080 a0003c0024t0054g0160 a0003c0024t0035g0080 a0003c0024t0054g0160	2	290	0.0069	-42	c.214 others(61): Show c.2140-1935_2140-1894delGAGAAGGAGCGGGAGGAGGGAGGGGA GACGGGGGGAGAGAGA	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	9/14			chr7	TogoVar
RAF1_chr3_12578601_12669117	12631259	AACTGTAA others(35): Show AACTGTAAAATAAAGATATTATTTATCTAATTGAGTTGTTACT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	260	0.0038	-42	c.-26 others(61): Show c.-26-12554_-26-12513delAGTAACAACTCAATTAGATAAATAAT ATCTTTATTTTACAGT	RAF1	ENSG00000132155.14	transcript	ENST00000251849.9	protein_coding	1/16			chr3	TogoVar
RALGDS_chr9_133092722_133126240	133105818	CGCCCCAG others(35): Show CGCCCCAGCCCCCGCCCCAGCCCCCGCCCCAGCCCCCGCCCCA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02080.hp1 NA18955.hp2 others(2): Show HG00642.hp1 HG02080.hp1 NA18955.hp2 NA19088.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0198 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0198 a0001c0002t0001g0117	5	419	0.0119	-42	c.160 others(58): Show c.1602+72_1602+113delTGGGGCGGGGGCTGGGGCGGGGGCTGGGG CGGGGGCTGGGGC	RALGDS	ENSG00000160271.16	transcript	ENST00000372050.8	protein_coding	9/17			chr9	TogoVar
RAMP2_chr17_42756227_42768041	42767639	ATGGAAAT others(35): Show ATGGAAATAAAGCAAACCTTTATTTCAGGTGAAAACTCAAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	-42	c.47 others(53): Show c.4788_*4829delTGGAAATAAAGCAAACCTTTATTTCAGGTGAAAA CTCAAAAT	RAMP2	ENSG00000131477.11	transcript	ENST00000253796.10	protein_coding		4599		chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2998601	GTGTGAGT others(35): Show GTGTGAGTGTAGTATTTGGAATTTGGTGATGCCATTTGCTCGC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0135 a0001c0002t0135	a0001c0002t0135g0152 a0001c0002t0135g0152	1	216	0.0046	-42	c.120 others(59): Show c.1200+294_1200+335delGATGCCATTTGCTCGCTGTGAGTGTAGT ATTTGGAATTTGGT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2998712	AATGCCAT others(35): Show AATGCCATTTGCTCGCTGTGAGTGTAGTATTTGGAATTTGGTG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp2 HG01074.hp2 others(2): Show HG00733.hp2 HG00738.hp2 HG01074.hp2 HG01346.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0012 others(2): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0012 a0001c0002t0071 a0001c0002t0135	a0001c0002t0001g0211 a0001c0002t0004g0168 a0001c0002t0012g0100 others(2): Show a0001c0002t0001g0211 a0001c0002t0004g0168 a0001c0002t0012g0100 a0001c0002t0071g0155 a0001c0002t0135g0152	5	212	0.0236	-42	c.120 others(59): Show c.1200+435_1200+476delCTGTGAGTGTAGTATTTGGAATTTGGTG ATGCCATTTGCTCG	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAPGEF1_chr9_131571775_131745076	131586483	CTCAAACA others(35): Show CTCAAACACACACACACACACCTGCAGAGCGAGACTCCGTCAA	C C	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0152 a0001c0003t0002g0152	1	366	0.0027	-42	c.323 others(61): Show c.3233+1211_3233+1252delTTGACGGAGTCTCGCTCTGCAGGTGT GTGTGTGTGTGTTTGA	RAPGEF1	ENSG00000107263.19	transcript	ENST00000683357.1	protein_coding	22/26			chr9	TogoVar
RAPGEF4_chr2_172730845_173057893	173056574	TTTTTTTA others(35): Show TTTTTTTAGGAACTGCCATACTGTCTTCTACAGTGGCTGTACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	176	0.0057	-42	c.48 others(53): Show c.4808_*4849delTTTTTTAGGAACTGCCATACTGTCTTCTACAGTG GCTGTACC	RAPGEF4	ENSG00000091428.18	transcript	ENST00000397081.8	protein_coding		3682		chr2	TogoVar
RAPH1_chr2_203428682_203540301	203506742	CTATATAT others(35): Show CTATATATATATATATCTATATATATATCTATATATATCTAGA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02717.hp1 HG02451.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0036 a0001c0003t0076 a0001c0003t0036 a0001c0003t0076	a0001c0003t0036g0230 a0001c0003t0076g0228 a0001c0003t0036g0230 a0001c0003t0076g0228	2	261	0.0077	-42	c.1-1 others(57): Show c.1-11431_1-11390delTCTAGATATATATAGATATATATATAGATA TATATATATATA	RAPH1	ENSG00000173166.18	transcript	ENST00000319170.10	protein_coding	1/13			chr2	TogoVar
RASA2_chr3_141482027_141620344	141610341	ATATATAT others(35): Show ATATATATTTATATTTATATATTATATATTTATATTTATATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp2 HG02258.hp1 others(5): Show HG00733.hp2 HG00738.hp2 HG02258.hp1 HG02683.hp1 HG02886.hp1 HG03579.hp1 HG04184.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007	a0001c0001t0009 a0001c0002t0001 a0001c0002t0003 others(2): Show a0001c0001t0009 a0001c0002t0001 a0001c0002t0003 a0001c0006t0007 a0001c0007t0007	a0001c0001t0009g0004 a0001c0001t0009g0006 a0001c0002t0001g0024 others(5): Show a0001c0001t0009g0004 a0001c0001t0009g0006 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0168 a0001c0002t0003g0235 a0001c0006t0007g0260 a0001c0007t0007g0011	8	209	0.0383	-42	c.251 others(59): Show c.2519+367_2519+408delTTATATTTATATATTATATATTTATATT TATATATTATATAT	RASA2	ENSG00000155903.14	transcript	ENST00000286364.9	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr3	TogoVar
RASA3_chr13_113972783_114137623	113999816	AGGGGGTC others(35): Show AGGGGGTCTCTGCCAGGGGGTCTCTACCGGGGGTCTCTGCTGG	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG04228.hp2 HG02738.hp1 HG04228.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0016 a0001c0005t0001g0017 a0001c0005t0001g0016 a0001c0005t0001g0017	2	66	0.0303	-42	c.185 others(59): Show c.1850-191_1850-150delCCAGCAGAGACCCCCGGTAGAGACCCCC TGGCAGAGACCCCC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	19/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114120318	GCCCTCCC others(35): Show GCCCTCCCTCCTCTCTCCAGCCAGCCAGGCGTCGATCAGGGCC	G G	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0052 a0001c0010t0002g0052	1	58	0.0172	-42	c.55+ others(59): Show c.55+12075_55+12116delGGCCCTGATCGACGCCTGGCTGGCTGGA GAGAGGAGGGAGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASD2_chr22_35535831_35558999	35543832	CTCTGACT others(35): Show CTCTGACTCCCTGCCTCCTCTCTCTGTCTCCCTGCCTCCTCTG	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	408	0.0025	-42	c.-10 others(59): Show c.-10+2350_-10+2391delTCTCTCTGTCTCCCTGCCTCCTCTGTCT GACTCCCTGCCTCC	RASD2	ENSG00000100302.7	transcript	ENST00000216127.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr22	TogoVar
RBBP8_chr18_22928328_23031486	22929510	GAAGAGAC others(35): Show GAAGAGACAGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0312 a0001c0002t0002g0312	1	45	0.0222	-42	c.-41 others(53): Show c.-4152_-4111delAAGAGACAGGCGGGTGTGTGTGTGTGTGTGTGTG TGTGTGTA	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding		3817		chr18	TogoVar
RBFOX1_chr16_6014024_7718340	6487684	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	64	0.0156	-42	c.-63 others(63): Show c.-63-166917_-63-166876delAAAAAAAAAAAAAAAATATATATA TATATATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7029065	TATATATA others(35): Show TATATATATATATATATACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03453.hp1 HG02630.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0039 a0001c0001t0008g0034 a0001c0001t0007g0039 a0001c0001t0008g0034	2	67	0.0299	-42	c.-15 others(61): Show c.-15-22990_-15-22949delTATATATATATATATACACACACACA CACACACACACACACA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7504745	ATATATAT others(35): Show ATATATATATTTATATATATATATATTTATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	67	0.0149	-42	c.28- others(59): Show c.28-13392_28-13351delTTATATATATATATATTTATATATATAT ATATTTATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7504745	ATATATAT others(35): Show ATATATATATTTATATATATATATATTTATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA18945.hp2 NA19009.hp1 others(1): Show HG00140.hp1 NA18945.hp2 NA19009.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0083 a0001c0001t0001g0144 a0001c0001t0001g0188 others(1): Show a0001c0001t0001g0083 a0001c0001t0001g0144 a0001c0001t0001g0188 a0001c0001t0010g0169	4	228	0.0175	-42	c.88- others(59): Show c.88-13392_88-13351delTTATATATATATATATTTATATATATAT ATATTTATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79198073	TTGTCATC others(35): Show TTGTCATCCCGGAAGTGCTACGGTTGCATCGTGTGGGGTGGGC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19043.hp2 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0026 a0001c0001t0004 a0001c0001t0026	a0001c0001t0004g0092 a0001c0001t0026g0106 a0001c0001t0004g0092 a0001c0001t0026g0106	2	152	0.0132	-42	c.-34 others(61): Show c.-34+37651_-34+37692delGCCCACCCCACACGATGCAACCGTAG CACTTCCGGGATGACA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RCC2_chr1_17401760_17444677	17419828	GTCTCGGG others(35): Show GTCTCGGGCTCCACCACGGCAACCAACGCGAAATGTGAAATGT	G G	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0251 a0001c0001t0004g0251	1	388	0.0026	-42	c.859 others(57): Show c.859+844_859+885delACATTTCACATTTCGCGTTGGTTGCCGTGG TGGAGCCCGAGA	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	7/12			chr1	TogoVar
RCOR3_chr1_211254366_211321385	211294567	GACTTTTC others(35): Show GACTTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTGA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	322	0.0031	-42	c.940 others(59): Show c.940-1108_940-1067delACTTTTCTTTCTTTCTTTCTTTTTTTTT TTTTTTTTTTTTGA	RCOR3	ENSG00000117625.14	transcript	ENST00000419091.7	protein_coding	8/11			chr1	TogoVar
RCVRN_chr17_9891320_9910271	9900613	CCTCCCAT others(35): Show CCTCCCATAAATCTCTTGCAATCTCATTTAAATCTAATCCTAT	C C	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	478	0.0021	-42	c.493 others(57): Show c.493+334_493+375delATAGGATTAGATTTAAATGAGATTGCAAGA GATTTATGGGAG	RCVRN	ENSG00000109047.8	transcript	ENST00000226193.6	protein_coding	2/2			chr17	TogoVar
RET_chr10_43072069_43135351	43131499	TTCACGCA others(35): Show TTCACGCATAGTGTCTGGCACACCTTGTTTTATTGCTCTTTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	380	0.0026	-42	c.32 others(53): Show c.3231_*3272delTCACGCATAGTGTCTGGCACACCTTGTTTTATTG CTCTTTGC	RET	ENSG00000165731.21	transcript	ENST00000355710.8	protein_coding		1149		chr10	TogoVar

Search by Variant

Search

Search Results