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
SF3B3_chr16_70518816_70582668	70532357	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	342	0.0029	34	c.571 others(49): Show c.571-112_571-111insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	SF3B3	ENSG00000189091.13	transcript	ENST00000302516.10	protein_coding	4/25		INFO_REALIGN_3_PRIME	chr16	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0026	1	322	0.0031	34	c.124 others(53): Show c.1249-1638_1249-1637insATATATATATATATATATATATATAT TTTTTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31612396	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0017 a0017	a0017c0018 a0017c0018	a0017c0018t0001 a0017c0018t0001	a0017c0018t0001g0199 a0017c0018t0001g0199	1	322	0.0031	34	c.249 others(51): Show c.2490+557_2490+558insTATATATATATATATATATATATATATA TATATA	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31612398	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0010 a0010	a0010c0021 a0010c0021	a0010c0021t0001 a0010c0021t0001	a0010c0021t0001g0031 a0010c0021t0001g0031	1	322	0.0031	34	c.249 others(51): Show c.2490+559_2490+560insAAAAAAAAAATATATATATATATATATA TATATA	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02074.hp1 HG02132.hp1 others(10): Show HG00558.hp1 HG02074.hp1 HG02132.hp1 HG02523.hp2 HG02886.hp2 HG03017.hp2 NA18947.hp2 NA18968.hp2 NA18977.hp2 NA18984.hp1 NA18989.hp1 NA19030.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0054 a0001c0001t0001g0177 a0001c0001t0001g0179 others(10): Show a0001c0001t0001g0054 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0193 a0001c0001t0001g0205 a0001c0001t0001g0219 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0255 a0001c0001t0003g0131	13	328	0.0396	34	c.124 others(51): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFMBT2_chr10_7153624_7416034	7186459	C C	CACACACA others(27): Show CACACACACACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0028	1	144	0.0069	34	c.180 others(53): Show c.1808+2164_1808+2165insATATATATATATATATATATATATGT GTGTGTGT	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	16/20			chr10	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01168.hp1 HG01496.hp1 others(10): Show HG00735.hp2 HG01168.hp1 HG01496.hp1 HG01978.hp1 HG02280.hp2 HG02895.hp1 HG02897.hp1 HG03453.hp1 NA18960.hp1 NA18970.hp2 NA19080.hp2 NA19088.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0031 a0001c0001 a0001c0031	a0001c0001t0001 a0001c0031t0001 a0001c0001t0001 a0001c0031t0001	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0106 others(10): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0164 a0001c0001t0001g0173 a0001c0031t0001g0046	13	318	0.0409	34	c.240 others(53): Show c.2409-2641_2409-2640insTATATATATATATATATATATATATA TATATATA	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFXN4_chr10_119135767_119170714	119146460	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGC	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0174 a0001c0002t0002g0174	1	432	0.0023	34	c.819 others(49): Show c.819-108_819-107insGCGCGCGCGCACACACACACACACACACAC ACAC	SFXN4	ENSG00000183605.17	transcript	ENST00000355697.7	protein_coding	12/13			chr10	TogoVar
SFXN5_chr2_72937036_73076712	73047245	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	250	0.0040	34	c.172 others(51): Show c.172-6315_172-6314insGTGTGTGTATATATATATATATATATAT ATATTT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCGCAC others(27): Show GCGCGCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0073 a0001c0002t0004g0073	1	250	0.0040	34	c.171 others(51): Show c.171+8139_171+8140insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGCGCG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050420	A A	ACACACAC others(27): Show ACACACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0031	1	250	0.0040	34	c.171 others(51): Show c.171+8107_171+8108insGGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SGCD_chr5_156322164_156772788	156350247	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01261.hp1 HG02970.hp2 others(2): Show HG01258.hp1 HG01261.hp1 HG02970.hp2 HG03225.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0033 a0001c0002t0004 a0001c0002t0013 others(2): Show a0001c0001t0033 a0001c0002t0004 a0001c0002t0013 a0001c0002t0024 a0001c0002t0057	a0001c0001t0033g0141 a0001c0002t0004g0114 a0001c0002t0013g0030 others(2): Show a0001c0001t0033g0141 a0001c0002t0004g0114 a0001c0002t0013g0030 a0001c0002t0024g0100 a0001c0002t0057g0110	5	150	0.0333	34	c.192 others(51): Show c.192+5587_192+5588insATATATATATATATATATATATATATAT ATATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156423349	A A	ATTATAAT others(27): Show ATTATAATATAATATATTTTATTATAATATAATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0049 a0001c0001t0009g0049	1	150	0.0067	34	c.192 others(53): Show c.192+78672_192+78673insTTATAATATAATATATTTTATTATAA TATAATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8			chr5	TogoVar
SGCZ_chr8_14079845_15243431	14439310	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0054 a0001c0001t0088g0054	1	102	0.0098	34	c.235 others(55): Show c.235-115107_235-115106insATATATATATATATATATATATAT ATATATATAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14440704	T T	CGTATATA others(27): Show CGTATATACATACGTATACACGTATATGTATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0009 a0001c0001t0041g0009	1	102	0.0098	34	c.234 others(55): Show c.234+114028_234+114029insTATATACATATACGTGTATACGTA TGTATATACG	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14551524	A A	AATATATA others(27): Show AATATATATTATATATATTATATATATTATATATT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp2 HG06807.hp2 HG02630.hp2 HG02717.hp2 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0033 a0001c0001t0073 a0003c0003t0043 a0001c0001t0033 a0001c0001t0073 a0003c0003t0043	a0001c0001t0033g0003 a0001c0001t0073g0053 a0003c0003t0043g0041 a0001c0001t0033g0003 a0001c0001t0073g0053 a0003c0003t0043g0041	3	102	0.0294	34	c.234 others(51): Show c.234+3207_234+3208insAATATATAATATATATAATATATATAAT ATATAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	15061182	G G	GAGGGGGG others(27): Show GAGGGGGGAACATTTCAGAGGTGATTAAGTCATGA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02886.hp2 NA19240.hp2 HG02004.hp2 HG02886.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0050 a0001c0001t0056 a0001c0001t0039 a0001c0001t0050 a0001c0001t0056	a0001c0001t0039g0036 a0001c0001t0050g0045 a0001c0001t0056g0062 a0001c0001t0039g0036 a0001c0001t0050g0045 a0001c0001t0056g0062	3	102	0.0294	34	c.39+ others(53): Show c.39+176369_39+176402dupTCATGACTTAATCACCTCTGAAATGT TCCCCCCT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGF29_chr16_28548920_28596790	28564717	G G	GTATATAT others(27): Show GTATATATATGTATATATATATACATATATATGTA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01515.hp1 HG01256.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0062 a0001c0001t0002g0066	2	346	0.0058	34	c.-16 others(53): Show c.-16+10629_-16+10630insGTATATATATATACATATATATGTAT ATATATAT	SGF29	ENSG00000176476.9	transcript	ENST00000317058.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
SGF29_chr16_28548920_28596790	28564777	A A	ATATATAC others(27): Show ATATATACATATATATGTATATATGTATATATATG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02523.hp2 HG03669.hp2 others(3): Show HG02135.hp1 HG02523.hp2 HG03669.hp2 NA18941.hp1 NA18964.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0072 others(3): Show a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0072 a0001c0001t0002g0089 a0001c0001t0002g0100 a0001c0001t0002g0101	6	346	0.0173	34	c.-16 others(53): Show c.-16+10686_-16+10687insCATATATATGTATATATGTATATATA TGTATATA	SGF29	ENSG00000176476.9	transcript	ENST00000317058.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
SGK1_chr6_134164256_134323112	134232413	G G	GAAAAGAA others(27): Show GAAAAGAAAGAAAGAGAGAGAGAGAGAGAGAAGAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	250	0.0040	34	c.286 others(53): Show c.286-24983_286-24982insTTCTTCTCTCTCTCTCTCTCTCTTTC TTTCTTTT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGK3_chr8_66707781_66867022	66720781	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0055 a0001c0002t0006g0055	1	142	0.0070	34	c.-12 others(53): Show c.-122+7962_-122+7963insTATATATATATATATATATATATATA TATATATA	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGMS1_chr10_50300600_50628956	50365255	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0145	1	312	0.0032	34	c.-23 others(55): Show c.-231-20911_-231-20910insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	6/10			chr10	TogoVar
SGMS1_chr10_50300600_50628956	50574961	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0276 a0001c0002t0002g0276	1	312	0.0032	34	c.-58 others(55): Show c.-589+15191_-589+15192insTATATATATATATATATATATATA TATATATATA	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	2/10			chr10	TogoVar
SGMS1_chr10_50300600_50628956	50574963	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	312	0.0032	34	c.-58 others(55): Show c.-589+15189_-589+15190insTATATATATATATATATATATATA TATATATATA	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	2/10			chr10	TogoVar
SGMS1_chr10_50300600_50628956	50574963	G G	GTATATAT others(27): Show GTATATATATATATATGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01257.hp1 HG01168.hp2 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0003 a0001c0002t0005	a0001c0002t0003g0233 a0001c0002t0005g0232 a0001c0002t0003g0233 a0001c0002t0005g0232	2	312	0.0064	34	c.-58 others(55): Show c.-589+15189_-589+15190insTATATATATATATATACACATATA TATATATATA	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	2/10			chr10	TogoVar
SGO2_chr2_200521207_200589096	200522317	A A	ATTCTTTC others(27): Show ATTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0113 a0001c0003t0002g0113	1	384	0.0026	34	c.-39 others(45): Show c.-3938_-3937insTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCT	SGO2	ENSG00000163535.18	transcript	ENST00000357799.9	protein_coding		3889		chr2	TogoVar
SGPP2_chr2_222419543_222567621	222422285	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0024	1	272	0.0037	34	c.-23 others(45): Show c.-2318_-2317insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding		2257		chr2	TogoVar
SGSM2_chr17_2332501_2386054	2338774	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02083.hp2 NA19030.hp1 others(2): Show HG02027.hp2 HG02083.hp2 NA19030.hp1 NA19086.hp1 NA20300.hp2	a0001 a0002 a0026 a0001 a0002 a0026	a0001c0001 a0002c0046 a0026c0016 a0001c0001 a0002c0046 a0026c0016	a0001c0001t0001 a0002c0046t0020 a0026c0016t0003 a0001c0001t0001 a0002c0046t0020 a0026c0016t0003	a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 others(2): Show a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0002c0046t0020g0159 a0026c0016t0003g0160	5	422	0.0119	34	c.57+ others(49): Show c.57+1044_57+1045insTATATATATATATATATATATATATATATA TATA	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2338784	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18994.hp1 NA18971.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0152 a0001c0001t0001g0153	2	422	0.0047	34	c.57+ others(49): Show c.57+1044_57+1045insTATATATATATATATATATATATATATACA TATA	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH2D1A_chrX_124341563_124378160	124350231	T T	TTATATAA others(27): Show TTATATAATATTATATAATATATAAATATATATTA	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA19070.hp1 HG03704.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0277 a0001c0001t0001g0075 a0001c0001t0001g0277	2	318	0.0063	34	c.137 others(51): Show c.137+3476_137+3477insATATATATTATATATAATATTATATAAT ATATAA	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
SH2D2A_chr1_156801243_156821848	156817047	T T	TTCTCTCT others(27): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	34	c.-34 others(43): Show c.-340_-339insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	SH2D2A	ENSG00000027869.12	transcript	ENST00000368199.8	protein_coding		200		chr1	TogoVar
SH2D4B_chr10_80532902_80651560	80560967	T T	TCAATGAT others(27): Show TCAATGATGGTTTCATTCCTTGGTGAAACAGTAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0055 a0003c0003t0001g0055	1	322	0.0031	34	c.185 others(51): Show c.185-9185_185-9152dupAATGATGGTTTCATTCCTTGGTGAAACA GTAAAC	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH2D7_chr15_78087561_78109362	78089517	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0071	1	432	0.0023	34	c.-30 others(45): Show c.-3068_-3067insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SH2D7	ENSG00000183476.13	transcript	ENST00000328828.6	protein_coding		3043		chr15	TogoVar
SH3BP5_chr3_15249353_15337586	15265512	T T	TCACACAC others(27): Show TCACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19090.hp1 NA19002.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0286 a0001c0001t0002g0048 a0001c0001t0001g0286 a0001c0001t0002g0048	2	376	0.0053	34	c.496 others(51): Show c.496-3257_496-3224dupTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	4/8			chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15272534	C C	CATTACAA others(27): Show CATTACAAAACAGAGTGCCCGTAGGATAAAGACAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03239.hp1 HG03710.hp1 others(4): Show HG00621.hp2 HG03239.hp1 HG03710.hp1 NA18747.hp2 NA18956.hp2 NA19001.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0174 a0001c0001t0001g0277 a0001c0001t0001g0316 others(4): Show a0001c0001t0001g0174 a0001c0001t0001g0277 a0001c0001t0001g0316 a0001c0001t0001g0319 a0001c0001t0002g0016 a0001c0002t0001g0233 a0001c0002t0001g0308	7	376	0.0186	34	c.331 others(51): Show c.331-2658_331-2657insATGTCTTTATCCTACGGGCACTCTGTTT TGTAAT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15272566	C C	CATTACAA others(27): Show CATTACAAAACAGAGTGCCTGTAGGATAAAGACAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0263 a0001c0002t0001g0263	1	376	0.0027	34	c.331 others(51): Show c.331-2723_331-2690dupATGTCTTTATCCTACAGGCACTCTGTTT TGTAAT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SH3D21_chr1_36301368_36326347	36313972	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA18979.hp2 HG02004.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0152 a0001c0002t0001g0127 a0001c0001t0001g0152 a0001c0002t0001g0127	2	376	0.0053	34	c.769 others(51): Show c.769+4402_769+4403insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SH3D21	ENSG00000214193.11	transcript	ENST00000453908.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3GLB1_chr1_86699576_86753184	86724892	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0114 a0001c0001t0005g0114	1	318	0.0031	34	c.570 others(49): Show c.570+488_570+489insAAAAAATATATATATATATATATATATATA TATA	SH3GLB1	ENSG00000097033.15	transcript	ENST00000370558.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3PXD2A_chr10_103589027_103860576	103801542	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02559.hp1 HG02818.hp2 others(6): Show HG01978.hp1 HG02559.hp1 HG02818.hp2 HG03139.hp1 HG03195.hp2 NA18954.hp2 NA18975.hp2 NA19009.hp1 NA19067.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0002c0006	a0001c0001t0022 a0001c0002t0002 a0001c0002t0036 others(5): Show a0001c0001t0022 a0001c0002t0002 a0001c0002t0036 a0001c0003t0034 a0001c0009t0039 a0001c0009t0089 a0001c0009t0090 a0002c0006t0096	a0001c0001t0022g0100 a0001c0002t0002g0005 a0001c0002t0002g0038 others(6): Show a0001c0001t0022g0100 a0001c0002t0002g0005 a0001c0002t0002g0038 a0001c0002t0036g0019 a0001c0003t0034g0034 a0001c0009t0039g0113 a0001c0009t0089g0219 a0001c0009t0090g0095 a0002c0006t0096g0199	9	250	0.0360	34	c.73- others(47): Show c.73-181_73-180insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	1/14			chr10	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368496	T T	TTATATAT others(27): Show TTATATATATATATATATAAAATATATATATATTA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18966.hp2 NA19090.hp1 NA18960.hp2 NA18966.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0017 a0001c0001t0003 a0001c0003t0017	a0001c0001t0003g0227 a0001c0003t0017g0225 a0001c0003t0017g0228 a0001c0001t0003g0227 a0001c0003t0017g0225 a0001c0003t0017g0228	3	280	0.0107	34	c.427 others(51): Show c.427+5293_427+5294insTAATATATATATATTTTATATATATATA TATATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109458572	C C	CAGAGAGA others(27): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp2 HG01243.hp1 others(10): Show HG01099.hp1 HG01099.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01981.hp1 HG02027.hp1 HG03225.hp1 HG03471.hp2 NA18970.hp2 NA18983.hp1 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0001c0015 others(1): Show a0001c0001 a0001c0010 a0001c0015 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 a0001c0001t0041 a0001c0010t0026 a0001c0015t0011 a0002c0002t0001	a0001c0001t0001g0037 a0001c0001t0001g0155 a0001c0001t0002g0084 others(10): Show a0001c0001t0001g0037 a0001c0001t0001g0155 a0001c0001t0002g0084 a0001c0001t0002g0099 a0001c0001t0002g0114 a0001c0001t0002g0123 a0001c0001t0003g0072 a0001c0001t0005g0024 a0001c0001t0015g0125 a0001c0001t0041g0050 a0001c0010t0026g0017 a0001c0015t0011g0115 a0002c0002t0001g0156	13	172	0.0756	34	c.214 others(53): Show c.2148+9112_2148+9113insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHANK1_chr19_50654255_50724802	50665737	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0005 a0001c0040t0005	a0001c0040t0005g0206 a0001c0040t0005g0206	1	316	0.0032	34	c.576 others(51): Show c.5768+454_5768+455insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	23/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50692456	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01168.hp2 HG01169.hp2 others(2): Show HG01081.hp2 HG01168.hp2 HG01169.hp2 HG03654.hp1 NA19074.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0002 a0002c0001 a0010c0029 a0001c0002 a0002c0001 a0010c0029	a0001c0002t0001 a0001c0002t0040 a0002c0001t0013 others(1): Show a0001c0002t0001 a0001c0002t0040 a0002c0001t0013 a0010c0029t0001	a0001c0002t0001g0096 a0001c0002t0001g0195 a0001c0002t0040g0009 others(2): Show a0001c0002t0001g0096 a0001c0002t0001g0195 a0001c0002t0040g0009 a0002c0001t0013g0256 a0010c0029t0001g0204	5	316	0.0158	34	c.196 others(53): Show c.1965-3178_1965-3177insATATATATATATATATATATATATAT ATATATAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	15/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50692472	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0085 a0002c0001t0085	a0002c0001t0085g0170 a0002c0001t0085g0170	1	316	0.0032	34	c.196 others(53): Show c.1965-3194_1965-3193insGTATATATATATATATATATATATAT ATATATAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	15/23			chr19	TogoVar
SHC4_chr15_48818741_48968919	48907840	G G	GTGTGTAT others(27): Show GTGTGTATATATATATATGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19001.hp2 HG00621.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0267 a0001c0001t0001g0169 a0001c0001t0001g0267	2	384	0.0052	34	c.657 others(53): Show c.657-17030_657-17029insTATACACACACACACACATATATATA TATACACA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHCBP1L_chr1_182894865_182958166	182918177	T T	TACATATA others(27): Show TACATATATATACACATATATATACATATATATAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0139 a0010c0012t0001g0139	1	302	0.0033	34	c.118 others(55): Show c.1182+11436_1182+11469dupGTATATATATGTATATATATGTGT ATATATATGT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924797	A A	AGAAAGAA others(27): Show AGAAAGAAAGAGAGAGAAAGAGAGAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0287 a0001c0003t0001g0287	1	302	0.0033	34	c.118 others(53): Show c.1182+4849_1182+4850insCCTTCCTTTCTCTCTCTTTCTCTCTC TTTCTTTC	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHISA5_chr3_48462876_48509174	48485530	A A	AAATATAT others(27): Show AAATATATATATTATATATATAATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	290	0.0035	34	c.234 others(51): Show c.234-6307_234-6274dupATATATAATATATTATATATATAATATA TATATT	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA6_chr17_11236213_11569063	11277280	T T	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0192 a0001c0002t0011g0192	1	192	0.0052	34	c.799 others(53): Show c.799+13755_799+13756insTCTCTCTCTCTCTCTCTCTCTCTCTC ACACACAC	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA9_chr16_12896598_13245416	13015890	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp2 HG01433.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0085 a0001c0001t0003 a0001c0001t0085	a0001c0001t0003g0180 a0001c0001t0085g0168 a0001c0001t0003g0180 a0001c0001t0085g0168	2	214	0.0094	34	c.691 others(53): Show c.691+99094_691+99095insCTTTCTTTCTTTCTTTTTCTTTCTTT CTTTCTTT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar

Search by Variant

Search

Search Results (Total: 7994 hits)