Joint Open Genome and Omics Platform (JoGo)

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.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPTBN1_chr2_54451327_54676446	54522697	G G	GAGAGAGA others(37): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03195.hp2 HG03139.hp2 HG03195.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0013 a0001c0007t0013	a0001c0007t0013g0108 a0001c0007t0013g0137 a0001c0007t0013g0108 a0001c0007t0013g0137	2	370	0.0054	44	c.-47 others(61): Show c.-47-3672_-47-3671insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAAAGAGAAAGAAAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTLC2_chr14_77500997_77621637	77529620	C C	CTTTCTTT others(37): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	246	0.0041	44	c.130 others(63): Show c.1304-8040_1304-8039insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGAAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443506	G G	GGTGTGTG others(37): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	344	0.0029	44	c.113 others(61): Show c.113-8246_113-8203dupACACACACACACACACACACACACACAC ACACACACACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SQLE_chr8_124993505_125027283	125012157	C C	CTATGGCA others(37): Show CTATGGCAGGAGCATAGGGTGGGTGTCAGAGTGGGAGACAGACCA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0136 a0001c0005t0001g0136	1	378	0.0027	44	c.120 others(61): Show c.1204+527_1204+570dupATGGCAGGAGCATAGGGTGGGTGTCAGA GTGGGAGACAGACCAT	SQLE	ENSG00000104549.12	transcript	ENST00000265896.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
SRD5A2_chr2_31517480_31585938	31526104	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0156 a0001c0001t0029g0156	1	386	0.0026	44	c.91 others(51): Show c.91_*92insATATATATATATATATATATATATATATATATATATAT ATATAT	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding	5/5	91		chr2	TogoVar
SRGAP1_chr12_63839700_64167217	64039628	C C	CGTGTGTG others(37): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0130 a0001c0001t0130	a0001c0001t0130g0165 a0001c0001t0130g0165	1	170	0.0059	44	c.490 others(61): Show c.490-3130_490-3129insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAATAT others(37): Show AAAAATATATATATATATATATATATCATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03942.hp1 NA20752.hp1 HG01167.hp2 HG03942.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0274 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0002g0274 a0001c0001t0004g0055 a0001c0001t0004g0056	3	396	0.0076	44	c.-34 others(61): Show c.-34+5364_-34+5365insAAATATATATATATATATATATATCATA TATATATATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34988582	T T	TATATATA others(37): Show TATATATATATATATATATATCATATATATATATATATATATAAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18941.hp2 NA18978.hp1 HG02074.hp1 NA18941.hp2 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0080 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0080	3	396	0.0076	44	c.-34 others(61): Show c.-34+5380_-34+5381insTATATATCATATATATATATATATATAT AACATATATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34988582	T T	TATATATA others(37): Show TATATATATATATATATATCATATATATATATATATATATATAAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02698.hp2 HG02735.hp1 others(2): Show HG00642.hp2 HG02698.hp2 HG02735.hp1 HG04204.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0072 others(2): Show a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0077	5	396	0.0126	44	c.-34 others(61): Show c.-34+5380_-34+5381insTATATCATATATATATATATATATATAT AACATATATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34988595	A A	ATATCATA others(37): Show ATATCATATATATATATATATATATATAACATATATATATATAAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp2 HG00733.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0075 a0001c0001t0004g0076	2	396	0.0051	44	c.-34 others(61): Show c.-34+5380_-34+5381insTATCATATATATATATATATATATATAA CATATATATATATAAC	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15			chr14	TogoVar
SRP68_chr17_76033785_76077517	76062730	T T	TTTATATA others(37): Show TTTATATATATATATATAAAATATATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	365	0.0027	44	c.562 others(61): Show c.562-1157_562-1156insTTTATATATATATATATATATATATTTT ATATATATATATATAA	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRPK2_chr7_105111374_105393921	105159464	A A	AAAAAACA others(37): Show AAAAAACAAAACAAAAAAAAAAAACAAACAAACAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0115 a0001c0001t0005g0115	1	282	0.0036	44	c.621 others(61): Show c.621+1042_621+1043insGTTTTTTTTTTTGTTTGTTTGTTTTTTT TTTTTGTTTTGTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	7/15			chr7	TogoVar
SS18L1_chr20_62138769_62187514	62163701	T T	TCGGGGAG others(37): Show TCGGGGAGCCTGGGGGAGTGAGGCGGGGAGCCTGGGGGAGTGAGG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	316	0.0032	44	c.721 others(58): Show c.721+81_721+124dupGGGGAGCCTGGGGGAGTGAGGCGGGGAGCCT GGGGGAGTGAGGC	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	412	0.0024	44	c.138 others(61): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATATATATTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA18940.hp2 NA18960.hp1 HG02895.hp2 NA18940.hp2 NA18960.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0143 a0001c0001t0001g0144 a0002c0003t0001g0239 a0001c0001t0001g0143 a0001c0001t0001g0144 a0002c0003t0001g0239	3	412	0.0073	44	c.138 others(61): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATATTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
ST3GAL1_chr8_133449848_133576887	133540828	T T	TATATATA others(37): Show TATATATATAGAGACATATATATATAGACATATATATAGAGAGAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0081 a0001c0011t0081	a0001c0011t0081g0314 a0001c0011t0081g0314	1	332	0.0030	44	c.-42 others(63): Show c.-429+4945_-429+4946insGTCTCTCTATATATATGTCTATATAT ATATGTCTCTATATATAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133541096	C C	CATATATA others(37): Show CATATATATATATAAACATATATATATATATATAAACATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0017 a0004c0007t0017	a0004c0007t0017g0008 a0004c0007t0017g0008	1	332	0.0030	44	c.-42 others(63): Show c.-429+4677_-429+4678insATATATATGTTTATATATATATATAT ATGTTTATATATATATAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST6GAL1_chr3_186925526_187083553	186984802	T T	TCTCTCCC others(37): Show TCTCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19043.hp1 HG03130.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0032 a0001c0001t0003 a0001c0001t0032	a0001c0001t0003g0024 a0001c0001t0032g0022 a0001c0001t0003g0024 a0001c0001t0032g0022	2	362	0.0055	44	c.-18 others(65): Show c.-183+20877_-183+20878insTCTCCCTCCCTCCCTCCCTCCTTC CTTCCTTCCTTCCTTCCTCC	ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
ST7_chr7_116948501_117235176	117027463	A A	AAAAGTAA others(37): Show AAAAGTAAAAGTAAAAGTAAAAGTAAAAGTAAAGTAAAGTAAAGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19240.hp1 NA20129.hp1 HG02451.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088	3	188	0.0160	44	c.152 others(63): Show c.152-72291_152-72290insAGTAAAAGTAAAAGTAAAAGTAAAGT AAAGTAAAGTAAAGTAAA	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST8SIA5_chr18_46662821_46762053	46719682	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01346.hp1 HG02080.hp1 others(7): Show HG00673.hp2 HG01346.hp1 HG02080.hp1 HG02109.hp1 HG02258.hp1 HG02723.hp2 HG03139.hp2 NA18942.hp1 NA19058.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0019 a0002c0004t0040	a0001c0001t0001g0005 a0001c0001t0002g0208 a0001c0001t0003g0174 others(7): Show a0001c0001t0001g0005 a0001c0001t0002g0208 a0001c0001t0003g0174 a0001c0001t0003g0193 a0001c0001t0005g0073 a0001c0001t0006g0186 a0001c0001t0007g0292 a0001c0001t0009g0337 a0001c0001t0019g0340 a0002c0004t0040g0266	10	362	0.0276	44	c.132 others(63): Show c.132-15019_132-15018insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA5_chr18_46662821_46762053	46719704	T T	TTCTTTCT others(37): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	362	0.0028	44	c.132 others(63): Show c.132-15041_132-15040insGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA5_chr18_46662821_46762053	46725996	T T	TATATATA others(37): Show TATATATATATATATATATATCCTGGATATATATATATATCCTGG	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0209 a0001c0001t0094g0209	1	362	0.0028	44	c.132 others(63): Show c.132-21333_132-21332insCCAGGATATATATATATATCCAGGAT ATATATATATATATATAT	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
STAG1_chr3_136331236_136757378	136565011	A A	AAGGAAGG others(37): Show AAGGAAGGAAGGAAGGAAGGAAGGCAGGCAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02970.hp2 HG03540.hp1 HG02809.hp2 HG02970.hp2 HG03540.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0143 a0002c0003t0002g0145 a0002c0003t0002g0154 a0002c0003t0002g0143 a0002c0003t0002g0145 a0002c0003t0002g0154	3	240	0.0125	44	c.394 others(61): Show c.394+3753_394+3754insGCCTGCCTGCCTGCCTGCCTGCCTTCCT TCCTTCCTTCCTTCCT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	5/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136565011	A A	AAGGAAGG others(37): Show AAGGAAGGAAGGAAGGAAGGCAGGCAGGCAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0185 a0001c0002t0005g0185	1	240	0.0042	44	c.394 others(61): Show c.394+3753_394+3754insGCCTGCCTGCCTGCCTGCCTGCCTGCCT TCCTTCCTTCCTTCCT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	5/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136565011	A A	AAGGAAGG others(37): Show AAGGAAGGAAGGAAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19240.hp2 HG02559.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0002t0005 a0001c0001t0016 a0001c0002t0005	a0001c0001t0016g0236 a0001c0002t0005g0237 a0001c0001t0016g0236 a0001c0002t0005g0237	2	240	0.0083	44	c.394 others(61): Show c.394+3753_394+3754insGCCTGCCTGCCTGCCTGCCTGCCTGCCT GCCTTCCTTCCTTCCT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	5/33			chr3	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18953.hp2 HG02717.hp2 NA18953.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0169 a0003c0003t0003g0180 a0001c0001t0001g0169 a0003c0003t0003g0180	2	268	0.0075	44	c.210 others(61): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATATATATAT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0333 a0002c0002t0002g0333	1	384	0.0026	44	c.762 others(63): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAATATATATA TATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22464948	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01346.hp1 others(15): Show HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01515.hp1 HG02015.hp1 HG02040.hp1 HG02083.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02976.hp1 HG04184.hp1 NA18939.hp1 NA18943.hp1 NA18954.hp1 NA18970.hp2 NA18981.hp2 NA19066.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 others(4): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001	a0001c0001t0002g0010 a0001c0001t0002g0026 a0001c0001t0002g0027 others(15): Show a0001c0001t0002g0010 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0042 a0001c0001t0002g0060 a0001c0001t0002g0085 a0001c0001t0002g0106 a0001c0001t0002g0152 a0002c0002t0001g0318 a0002c0002t0001g0321 a0002c0002t0002g0261 a0002c0002t0002g0264 a0002c0002t0002g0270 a0002c0002t0002g0317 a0002c0002t0007g0381 a0003c0003t0001g0203 a0003c0003t0002g0048 a0004c0004t0001g0172	18	384	0.0469	44	c.762 others(63): Show c.762+27616_762+27617insATATATATATATATATATATATATAT ATATATATATATATATAT	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEEP1_chrX_119533149_119570409	119536967	T T	TAAAAAAA others(37): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0144 a0001c0001t0013g0144	1	293	0.0034	44	c.27 others(55): Show c.2759_*2760insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	STEEP1	ENSG00000018610.15	transcript	ENST00000644802.2	protein_coding		1181		chrX	TogoVar
STEEP1_chrX_119533149_119570409	119569406	A A	AGGGGGGG others(37): Show AGGGGGGGGGGGGGGGGGGGGGGTGGGGGTGGTGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0049 a0001c0002t0003g0049	1	293	0.0034	44	c.-40 others(55): Show c.-4052_-4051insCCCCCCCCCCCCACCACCCCCACCCCCCCCCCCC CCCCCCCCCC	STEEP1	ENSG00000018610.15	transcript	ENST00000644802.2	protein_coding		3998		chrX	TogoVar
STIP1_chr11_64181171_64209543	64189502	G G	GTATTTCG others(37): Show GTATTTCGTGGATTAAATTAATCATTTACCCTATCCTGTGGTATA	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	378	0.0027	44	c.9+3 others(57): Show c.9+3232_9+3233insTATTTCGTGGATTAAATTAATCATTTACCCTA TCCTGTGGTATA	STIP1	ENSG00000168439.17	transcript	ENST00000305218.9	protein_coding	1/13			chr11	TogoVar
STK10_chr5_172037079_172193224	172056935	A A	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18906.hp2 HG02622.hp1 NA18906.hp2	a0001 a0001	a0001c0006 a0001c0009 a0001c0006 a0001c0009	a0001c0006t0016 a0001c0009t0033 a0001c0006t0016 a0001c0009t0033	a0001c0006t0016g0215 a0001c0009t0033g0052 a0001c0006t0016g0215 a0001c0009t0033g0052	2	232	0.0086	44	c.233 others(61): Show c.2337+413_2337+414insCTTTCTTTCCTTCCTTCCTTCCTTCCTT CCTTCTTTCTTTCTTT	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	15/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172089403	T T	TGGATGGA others(37): Show TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0007 a0001c0001t0034g0007	1	232	0.0043	44	c.168 others(61): Show c.1685+828_1685+829insTTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCC	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	10/18			chr5	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0123 a0003c0003t0001g0123	1	404	0.0025	44	c.483 others(61): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATATATATATATTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0107 a0003c0003t0001g0107	1	404	0.0025	44	c.483 others(61): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0150 a0003c0003t0001g0150	1	404	0.0025	44	c.483 others(61): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK32B_chr4_5046480_5505989	5159610	A A	AATATATA others(37): Show AATATATATGAATATATATATGAATATATATGAATATATATGAAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	170	0.0059	44	c.109 others(61): Show c.109-8671_109-8670insATGAATATATATGAATATATATGAATAT ATATATGAATATATAT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK4_chr20_44961512_45085021	45062989	C C	CTTTTTTT others(37): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0068 a0001c0001t0005g0068	1	328	0.0031	44	c.130 others(65): Show c.1306-11999_1306-11998insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	STK4	ENSG00000101109.13	transcript	ENST00000372806.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
STN1_chr10_103872569_103923184	103875859	G G	GTCTCTCT others(37): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0081 a0001c0001t0022g0081	1	382	0.0026	44	c.68 others(55): Show c.6824_*6825insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	STN1	ENSG00000107960.12	transcript	ENST00000224950.8	protein_coding		1709		chr10	TogoVar
STOML3_chr13_38960925_38995831	38988193	A A	AATATATT others(37): Show AATATATTTTATATCATATATTTTATAAATAATATATTTTATATC	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	396	0.0025	44	c.52+ others(59): Show c.52+2476_52+2477insGATATAAAATATATTATTTATAAAATATAT GATATAAAATATAT	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOM_chr9_121333987_121375250	121357424	G G	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	386	0.0026	44	c.62- others(59): Show c.62-1269_62-1268insATATATATATATATATATATATATATATAT ATATATATATATAT	STOM	ENSG00000148175.13	transcript	ENST00000286713.7	protein_coding	1/6			chr9	TogoVar
STPG2_chr4_97553872_98148476	97811681	A A	AAGTATAT others(37): Show AAGTATATCTGTTAAGTAACTAATTGAAATAGGCTTGGTTTTAAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA21309.hp1 HG02055.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0255 a0001c0001t0001g0114 a0001c0001t0001g0255	2	266	0.0075	44	c.120 others(65): Show c.1204+29048_1204+29091dupCTTAAAACCAAGCCTATTTCAATT AGTTACTTAACAGATATACT	STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	9/10			chr4	TogoVar
STRN3_chr14_30888804_31031379	31013886	T T	TATTATTA others(37): Show TATTATTATTATTATTATTATTATTATTATTTGAGACAGAGTGTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02965.hp1 others(1): Show HG02055.hp1 HG02257.hp1 HG02965.hp1 HG03453.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0004 a0002c0005t0001 a0002c0005t0004	a0002c0005t0001g0295 a0002c0005t0001g0297 a0002c0005t0004g0292 others(1): Show a0002c0005t0001g0295 a0002c0005t0001g0297 a0002c0005t0004g0292 a0002c0005t0004g0296	4	364	0.0110	44	c.282 others(63): Show c.282+12017_282+12018insGACACTCTGTCTCAAATAATAATAAT AATAATAATAATAATAAT	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	1/17			chr14	TogoVar
STRN_chr2_36832698_36971536	36966898	A A	AACACACA others(37): Show AACACACACACACACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0279 a0001c0001t0012g0279	1	302	0.0033	44	c.-43 others(53): Show c.-436_-435insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	STRN	ENSG00000115808.13	transcript	ENST00000263918.9	protein_coding		363		chr2	TogoVar
STX8_chr17_9245471_9580820	9429998	A A	ATATAATA others(37): Show ATATAATATATAATATATATATTATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	188	0.0053	44	c.542 others(63): Show c.542-51346_542-51345insATATATAATATATATAATATATAATA TATATATTATATATTATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STXBP4_chr17_54963765_55178632	54997543	A A	ATATATAA others(37): Show ATATATAATATAAATATATATATTATATAATATAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0055	1	378	0.0027	44	c.181 others(61): Show c.181-1801_181-1758dupTATATAATATAAATATATATATTATATA ATATAAATATATATAT	STXBP4	ENSG00000166263.13	transcript	ENST00000376352.6	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
SULF2_chr20_47652406_47790481	47727921	G G	GTCTTACC others(37): Show GTCTTACCTATTACTGCACAGAAGAAGCCCCCAATTTTCATATTT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0294 a0001c0002t0002g0294	1	364	0.0028	44	c.415 others(61): Show c.415+8781_415+8782insAAATATGAAAATTGGGGGCTTCTTCTGT GCAGTAATAGGTAAGA	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	3/20			chr20	TogoVar
SUN5_chr20_32978775_33009433	33001565	T T	TCTTTCTT others(37): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0294 a0001c0001t0002g0294	1	382	0.0026	44	c.212 others(59): Show c.212-288_212-287insGAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAG	SUN5	ENSG00000167098.12	transcript	ENST00000356173.8	protein_coding	3/12			chr20	TogoVar
SUOX_chr12_55992276_56010525	55996003	A A	ATATATAT others(37): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	422	0.0024	44	c.-14 others(55): Show c.-1456_-1455insTATATATATATATATATTTTTTTTTTTTTTTTTT TTTTTTTTTT	SUOX	ENSG00000139531.13	transcript	ENST00000266971.8	protein_coding		1272		chr12	TogoVar
SUPT3H_chr6_44821726_45382934	45230660	G G	GCATATAT others(37): Show GCATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02074.hp2 HG02257.hp1 others(1): Show HG01074.hp2 HG02074.hp2 HG02257.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0176 a0001c0001t0004g0179 a0001c0001t0004g0181 others(1): Show a0001c0001t0004g0176 a0001c0001t0004g0179 a0001c0001t0004g0181 a0001c0001t0007g0172	4	262	0.0153	44	c.102 others(65): Show c.102-124655_102-124654insTATATATATATATATATATATATA TATATATATATATATATATG	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar

Search by Variant

Search

Search Results (Total: 4475 hits)