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
LYRM7_chr5_131165944_131210428	131181397	T T	TGTTGTAT others(22): Show TGTTGTATATATATAACATATATATGTATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp1 HG02572.hp2 others(5): Show HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG03139.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0025 a0001c0001t0051 others(1): Show a0001c0001t0014 a0001c0001t0025 a0001c0001t0051 a0001c0001t0059	a0001c0001t0014g0009 a0001c0001t0014g0099 a0001c0001t0014g0100 others(4): Show a0001c0001t0014g0009 a0001c0001t0014g0099 a0001c0001t0014g0100 a0001c0001t0025g0096 a0001c0001t0025g0097 a0001c0001t0051g0095 a0001c0001t0059g0094	8	300	0.0267	29	c.92- others(42): Show c.92-832_92-831insGTTGTATATATATAACATATATATGTATA	LYRM7	ENSG00000186687.16	transcript	ENST00000379380.9	protein_coding	2/4			chr5	TogoVar
LYST_chr1_235656041_235871906	235695629	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0024 a0001c0004t0001g0024	1	236	0.0042	29	c.105 others(50): Show c.10564+1453_10564+1454insAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	LYST	ENSG00000143669.16	transcript	ENST00000389793.7	protein_coding	46/52			chr1	TogoVar
LYST_chr1_235656041_235871906	235755389	A A	AAAAGAAA others(22): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02818.hp1 HG02895.hp1 others(1): Show HG02622.hp2 HG02818.hp1 HG02895.hp1 NA20129.hp2	a0005 a0008 a0005 a0008	a0005c0014 a0008c0017 a0008c0034 a0005c0014 a0008c0017 a0008c0034	a0005c0014t0001 a0008c0017t0001 a0008c0034t0001 a0005c0014t0001 a0008c0017t0001 a0008c0034t0001	a0005c0014t0001g0099 a0005c0014t0001g0100 a0008c0017t0001g0098 others(1): Show a0005c0014t0001g0099 a0005c0014t0001g0100 a0008c0017t0001g0098 a0008c0034t0001g0097	4	236	0.0170	29	c.722 others(44): Show c.7229+60_7229+88dupCTTTTCTTTTCTTTTCTTTTCTTTTCTTT	LYST	ENSG00000143669.16	transcript	ENST00000389793.7	protein_coding	25/52			chr1	TogoVar
LYZL6_chr17_35929518_35948713	35934434	T T	TTTGTCTT others(22): Show TTTGTCTTCCTTCTACTACCTAGTACACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0054 a0001c0011t0003g0054	1	415	0.0024	29	c.36 others(38): Show c.361_*362insGAGTGTACTAGGTAGTAGAAGGAAGACAA	LYZL6	ENSG00000275722.5	transcript	ENST00000615905.5	protein_coding		83		chr17	TogoVar
MACF1_chr1_39199695_39492138	39393196	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0030 a0030	a0030c0060 a0030c0060	a0030c0060t0001 a0030c0060t0001	a0030c0060t0001g0241 a0030c0060t0001g0241	1	246	0.0041	29	c.158 others(50): Show c.15816+4539_15816+4540insAAAAAAAAATATATATATATATAT ATATA	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	58/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39477075	A A	ATATATAC others(22): Show ATATATACACACACATATATACACTTAGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03209.hp2 HG03453.hp1 others(1): Show HG01109.hp2 HG03209.hp2 HG03453.hp1 HG03516.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0003 a0008c0010t0003	a0008c0010t0003g0213 a0008c0010t0003g0219 a0008c0010t0003g0220 others(1): Show a0008c0010t0003g0213 a0008c0010t0003g0219 a0008c0010t0003g0220 a0008c0010t0003g0221	4	246	0.0163	29	c.219 others(50): Show c.21959-2717_21959-2716insCACACACATATATACACTTAGTGT ATATA	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	97/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACIR_chr5_103253763_103283660	103261658	C C	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	360	0.0028	29	c.-11 others(48): Show c.-114+2765_-114+2793dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACIR_chr5_103253763_103283660	103261662	C C	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01943.hp1 HG01169.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0232 a0001c0001t0002g0129 a0001c0001t0002g0232	2	360	0.0056	29	c.-11 others(48): Show c.-114+2769_-114+2797dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACIR_chr5_103253763_103283660	103261666	C C	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	360	0.0028	29	c.-11 others(48): Show c.-114+2773_-114+2801dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACROD2_chr20_13990516_16058197	15461006	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0005 a0001c0001t0009g0005	1	24	0.0417	29	c.571 others(48): Show c.571+29572_571+29573insATATATATATATATATATATATTTTT TTT	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAD1L1_chr7_1810795_2237945	1861441	C C	CCCCCGGT others(22): Show CCCCCGGTTGGAGGGACACTGCTCCGCCTG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0119 a0001c0004t0003g0119	1	264	0.0038	29	c.199 others(50): Show c.1998+36758_1998+36759insCAGGCGGAGCAGTGTCCCTCCAAC CGGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1929778	T T	TCCCCCAC others(22): Show TCCCCCACTGCCACGTCCCCTCGCCCCGTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG01099.hp2 others(2): Show HG00639.hp1 HG00642.hp1 HG01099.hp2 HG02293.hp1 HG02300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0003 a0001c0004t0001 a0001c0004t0003	a0001c0004t0001g0092 a0001c0004t0003g0117 a0001c0004t0003g0118 others(2): Show a0001c0004t0001g0092 a0001c0004t0003g0117 a0001c0004t0003g0118 a0001c0004t0003g0119 a0001c0004t0003g0180	5	264	0.0189	29	c.180 others(48): Show c.1807+6908_1807+6909insGACGGGGCGAGGGGACGTGGCAGTGG GGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1929858	T T	TCCCCCAC others(22): Show TCCCCCACTGCCACGTCCCCTCGCCCCATC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01074.hp2 HG01515.hp2 others(1): Show HG00438.hp2 HG01074.hp2 HG01515.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0181 a0001c0001t0001g0209 a0001c0003t0001g0015 others(1): Show a0001c0001t0001g0181 a0001c0001t0001g0209 a0001c0003t0001g0015 a0001c0003t0001g0033	4	264	0.0152	29	c.180 others(48): Show c.1807+6828_1807+6829insGATGGGGCGAGGGGACGTGGCAGTGG GGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1929962	G G	GCCCCATC others(22): Show GCCCCATCCCCCACTGCCACGTCCCCCTCA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	264	0.0038	29	c.180 others(48): Show c.1807+6724_1807+6725insTGAGGGGGACGTGGCAGTGGGGGATG GGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930064	T T	TCCCCTCG others(22): Show TCCCCTCGCCCCATCCCCCACTGCCACGTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	264	0.0038	29	c.180 others(48): Show c.1807+6622_1807+6623insGACGTGGCAGTGGGGGATGGGGCGAG GGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930077	T T	TCCCCACT others(22): Show TCCCCACTGCCACGTCCCCCTCGCCCCGTC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0057	1	264	0.0038	29	c.180 others(48): Show c.1807+6609_1807+6610insGACGGGGCGAGGGGGACGTGGCAGTG GGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930251	A A	ACGTCCCC others(22): Show ACGTCCCCTACTGCCACGTCCCCACTGCCC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02300.hp1 HG03831.hp1 HG01975.hp2 HG02300.hp1 HG03831.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0003 a0001c0004t0001 a0001c0004t0003	a0001c0004t0001g0098 a0001c0004t0003g0116 a0001c0004t0003g0117 a0001c0004t0001g0098 a0001c0004t0003g0116 a0001c0004t0003g0117	3	264	0.0114	29	c.180 others(48): Show c.1807+6435_1807+6436insGGGCAGTGGGGACGTGGCAGTAGGGG ACG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1941000	G G	GCCTCCTC others(22): Show GCCTCCTCTTCCTCCCCCCGCAGGCCTCAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02055.hp1 HG02630.hp1 others(2): Show HG01099.hp1 HG02055.hp1 HG02630.hp1 HG03516.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0003t0001 a0001c0007t0004 a0001c0001t0001 a0001c0003t0001 a0001c0007t0004	a0001c0001t0001g0156 a0001c0001t0001g0210 a0001c0001t0001g0211 others(2): Show a0001c0001t0001g0156 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0003t0001g0068 a0001c0007t0004g0080	5	264	0.0189	29	c.159 others(48): Show c.1597-4104_1597-4103insGTGAGGCCTGCGGGGGGAGGAAGAGG AGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2105979	T T	TGCCCCTG others(22): Show TGCCCCTGCCCCTGCCCCACATATGGCCCC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03209.hp2 HG02895.hp1 HG02897.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0081 a0001c0001t0001g0146 a0001c0001t0001g0147	3	264	0.0114	29	c.107 others(50): Show c.1074-36642_1074-36641insGGGGCCATATGTGGGGCAGGGGCA GGGGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	11/18			chr7	TogoVar
MAGED4_chrX_52179888_52197268	52193536	A A	ACACACAC others(22): Show ACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0051 a0008c0013t0001g0051	1	220	0.0046	29	c.14 others(40): Show c.1470_*1471insCACACACACACACACACACACACACACAC	MAGED4	ENSG00000154545.17	transcript	ENST00000471932.6	protein_coding		1269		chrX	TogoVar
MAGI1_chr3_65348526_66043918	65819875	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA18906.hp1 HG01167.hp1 NA18906.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0049 a0004c0004t0001g0090 a0002c0002t0001g0049 a0004c0004t0001g0090	2	104	0.0192	29	c.314 others(50): Show c.314-197788_314-197787insTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI2_chr7_78012055_79458667	79228354	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0014 a0001c0004t0001g0014	1	40	0.0250	29	c.302 others(50): Show c.302-221149_302-221148insTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	79399095	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	40	0.0250	29	c.301 others(48): Show c.301+53924_301+53925insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MALRD1_chr10_19043801_19739478	19165266	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0013 a0013	a0013c0067 a0013c0067	a0013c0067t0001 a0013c0067t0001	a0013c0067t0001g0003 a0013c0067t0001g0003	1	152	0.0066	29	c.165 others(46): Show c.1657-371_1657-370insATATATATATATATATATATATATATAT A	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	12/39			chr10	TogoVar
MALRD1_chr10_19043801_19739478	19176366	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0079 a0079	a0079c0088 a0079c0088	a0079c0088t0001 a0079c0088t0001	a0079c0088t0001g0013 a0079c0088t0001g0013	1	152	0.0066	29	c.195 others(48): Show c.1951+1057_1951+1058insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	14/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19238179	A A	AATATGTA others(22): Show AATATGTAATATACATAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0076 a0076	a0076c0085 a0076c0085	a0076c0085t0001 a0076c0085t0001	a0076c0085t0001g0052 a0076c0085t0001g0052	1	152	0.0066	29	c.299 others(50): Show c.2992-19472_2992-19444dupTGTAATATACATAATATATATTAT ATATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19355858	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0048 a0048	a0048c0117 a0048c0117	a0048c0117t0002 a0048c0117t0002	a0048c0117t0002g0088 a0048c0117t0002g0088	1	152	0.0066	29	c.444 others(48): Show c.4441+3561_4441+3562insATATATATATATATATATATATATAT ATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	26/39			chr10	TogoVar
MALRD1_chr10_19043801_19739478	19373203	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02818.hp2 HG03453.hp2 others(1): Show HG01975.hp1 HG02818.hp2 HG03453.hp2 HG03471.hp2	a0059 a0060 a0061 others(1): Show a0059 a0060 a0061 a0082	a0059c0064 a0060c0065 a0061c0110 others(1): Show a0059c0064 a0060c0065 a0061c0110 a0082c0083	a0059c0064t0001 a0060c0065t0001 a0061c0110t0002 others(1): Show a0059c0064t0001 a0060c0065t0001 a0061c0110t0002 a0082c0083t0001	a0059c0064t0001g0152 a0060c0065t0001g0025 a0061c0110t0002g0081 others(1): Show a0059c0064t0001g0152 a0060c0065t0001g0025 a0061c0110t0002g0081 a0082c0083t0001g0043	4	152	0.0263	29	c.444 others(50): Show c.4442-14308_4442-14307insAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	26/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19543433	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0055 a0055	a0055c0074 a0055c0074	a0055c0074t0001 a0055c0074t0001	a0055c0074t0001g0139 a0055c0074t0001g0139	1	152	0.0066	29	c.547 others(50): Show c.5478+12100_5478+12101insTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	32/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19547818	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0058 a0058	a0058c0119 a0058c0119	a0058c0119t0001 a0058c0119t0001	a0058c0119t0001g0010 a0058c0119t0001g0010	1	152	0.0066	29	c.547 others(50): Show c.5478+16468_5478+16469insATATATATATATATATATATATAT ATTTT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	32/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAML2_chr11_95971598_96348195	96121780	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19030.hp1 NA21309.hp1 NA18982.hp2 NA19030.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0007 a0001c0002 a0005c0007	a0001c0002t0002 a0001c0002t0007 a0005c0007t0005 a0001c0002t0002 a0001c0002t0007 a0005c0007t0005	a0001c0002t0002g0006 a0001c0002t0007g0028 a0005c0007t0005g0005 a0001c0002t0002g0006 a0001c0002t0007g0028 a0005c0007t0005g0005	3	230	0.0130	29	c.514 others(48): Show c.514-28264_514-28263insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96159404	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0218 a0001c0002t0001g0218	1	230	0.0044	29	c.514 others(48): Show c.514-65888_514-65887insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML3_chr4_139711753_140159184	140151192	A A	AGGAGGAG others(22): Show AGGAGGAGGAAGGGAGGAGGAAGGGGAGGG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0029 a0001c0004t0003g0029	1	152	0.0066	29	c.468 others(46): Show c.468+1639_468+1667dupCCCTCCCCTTCCTCCTCCCTTCCTCCTC C	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAN1C1_chr1_25611791_25789450	25644518	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0237 a0001c0003t0001g0237	1	250	0.0040	29	c.540 others(48): Show c.540+26182_540+26183insATATATATATATATATATATATTTTT TTT	MAN1C1	ENSG00000117643.16	transcript	ENST00000374332.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1C1_chr1_25611791_25789450	25644518	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0227 a0001c0002t0008g0227	1	250	0.0040	29	c.540 others(48): Show c.540+26182_540+26183insATATATATATATATATATATTTTTTT TTT	MAN1C1	ENSG00000117643.16	transcript	ENST00000374332.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1C1_chr1_25611791_25789450	25644519	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18906.hp1 HG03209.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0228 a0001c0005t0001g0229 a0001c0002t0001g0228 a0001c0005t0001g0229	2	250	0.0080	29	c.540 others(48): Show c.540+26182_540+26183insATATATATATATATATATATATATAT ATA	MAN1C1	ENSG00000117643.16	transcript	ENST00000374332.9	protein_coding	1/11			chr1	TogoVar
MAN2A1_chr5_109684927_109874625	109842806	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0214 a0001c0004t0013g0214	1	296	0.0034	29	c.270 others(46): Show c.2700+362_2700+363insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	MAN2A1	ENSG00000112893.10	transcript	ENST00000261483.5	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAP2K4_chr17_12015877_12148828	12088568	A A	AATATATA others(22): Show AATATATATAATATATAATATATATTAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00597.hp2 others(54): Show HG00099.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00733.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp2 HG02027.hp1 HG02300.hp2 HG02602.hp1 HG02735.hp1 HG03098.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG03669.hp1 HG03710.hp1 HG03831.hp2 HG04115.hp1 NA18612.hp1 NA18943.hp2 NA18946.hp2 NA18955.hp1 NA18967.hp1 NA18970.hp2 NA18984.hp2 NA18985.hp2 NA18987.hp1 NA19002.hp2 NA19009.hp2 NA19054.hp1 NA19055.hp2 NA19057.hp2 NA19064.hp1 NA19070.hp2 NA19075.hp1 NA19079.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19086.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0014 a0001c0001t0017 a0001c0002t0003	a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0029 others(51): Show a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0234 a0001c0001t0002g0073 a0001c0001t0003g0002 a0001c0001t0003g0032 a0001c0001t0003g0055 a0001c0001t0003g0062 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0080 a0001c0001t0003g0086 a0001c0001t0009g0001 a0001c0001t0014g0091 a0001c0001t0017g0078 a0001c0002t0003g0052 a0001c0002t0003g0085	57	322	0.1770	29	c.394 others(46): Show c.394-7000_394-6999insTAATATATAATATATATTAAATATATAT A	MAP2K4	ENSG00000065559.15	transcript	ENST00000353533.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAP2K5_chr15_67537703_67812114	67590442	C C	CTCTCTCT others(22): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	278	0.0036	29	c.432 others(46): Show c.432-2484_432-2483insTCTCTCTCTCTCTCTCTCTCTCTCTCTC T	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	6/21			chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67590446	C C	CTCTCTCT others(22): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0272 a0001c0001t0004g0272	1	278	0.0036	29	c.432 others(46): Show c.432-2480_432-2479insTCTCTCTCTCTCTCTCTCTCTCTCTCTC T	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	6/21			chr15	TogoVar
MAP3K13_chr3_185358136_185494094	185483711	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTGGTTTGTTGGTTTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0016 a0001c0001t0025g0016	1	278	0.0036	29	c.12 others(40): Show c.1269_*1270insGGTTTGTTGGTTTGGTTTTTTTTTTTTTT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	14/14	1270	INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185483712	T T	TTTTTTTT others(22): Show TTTTTTTTTTTTTTTGGTTTGTTGGTTTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0034 a0003c0008t0034	a0003c0008t0034g0073 a0003c0008t0034g0073	1	278	0.0036	29	c.12 others(40): Show c.1270_*1271insGGTTTGTTGGTTTGGTTTTTTTTTTTTTT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	14/14	1271	INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K15_chrX_19355059_19520508	19452351	A A	AAGAGAAG others(22): Show AAGAGAAGAGAAGAGAAGAGAAGAGAAGAG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	163	0.0061	29	c.995 others(46): Show c.995+4561_995+4562insCTCTTCTCTTCTCTTCTCTTCTCTTCTC T	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19477964	A A	AGGGAGAG others(22): Show AGGGAGAGAGAGAGAGGGAGGGAGGGATGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02922.hp2 HG01081.hp2 HG02922.hp2	a0002 a0002	a0002c0003 a0002c0017 a0002c0003 a0002c0017	a0002c0003t0005 a0002c0017t0002 a0002c0003t0005 a0002c0017t0002	a0002c0003t0005g0023 a0002c0017t0002g0145 a0002c0003t0005g0023 a0002c0017t0002g0145	2	163	0.0123	29	c.525 others(46): Show c.525+8517_525+8518insCCATCCCTCCCTCCCTCTCTCTCTCTCC C	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K19_chr2_134959491_135052447	134997817	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01168.hp2 HG03654.hp2 others(1): Show HG01123.hp2 HG01168.hp2 HG03654.hp2 HG04204.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0008c0011 a0001c0002 a0008c0011	a0001c0002t0001 a0008c0011t0001 a0001c0002t0001 a0008c0011t0001	a0001c0002t0001g0152 a0001c0002t0001g0179 a0001c0002t0001g0243 others(1): Show a0001c0002t0001g0152 a0001c0002t0001g0179 a0001c0002t0001g0243 a0008c0011t0001g0329	4	334	0.0120	29	c.574 others(44): Show c.574+920_574+921insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MAP3K19	ENSG00000176601.14	transcript	ENST00000392915.7	protein_coding	8/12			chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0163 a0003c0005t0005g0163	1	334	0.0030	29	c.160 others(48): Show c.160-35376_160-35375insATATATATATATATATATATATATAT ATT	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0154 a0001c0007t0007g0154	1	334	0.0030	29	c.160 others(48): Show c.160-35376_160-35375insATATATATATATATATATATATATAT TTT	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0086 a0003c0005t0005g0086	1	334	0.0030	29	c.160 others(48): Show c.160-35376_160-35375insATATATATATATATATATATATATTT TTT	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K5_chr6_136552046_136797477	136585469	T T	TTTTCTTT others(22): Show TTTTCTTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01258.hp2 NA18955.hp2 HG01106.hp2 HG01258.hp2 NA18955.hp2	a0001 a0001	a0001c0006 a0001c0011 a0001c0014 a0001c0006 a0001c0011 a0001c0014	a0001c0006t0002 a0001c0011t0002 a0001c0014t0002 a0001c0006t0002 a0001c0011t0002 a0001c0014t0002	a0001c0006t0002g0136 a0001c0011t0002g0082 a0001c0014t0002g0071 a0001c0006t0002g0136 a0001c0011t0002g0082 a0001c0014t0002g0071	3	162	0.0185	29	c.322 others(48): Show c.3226-1730_3226-1729insGAAAGAAAGAAAGAAAGAAAGAAAAG AAA	MAP3K5	ENSG00000197442.11	transcript	ENST00000359015.5	protein_coding	23/29			chr6	TogoVar
MAP3K8_chr10_30429184_30466833	30432976	G G	GAGAGAGA others(22): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG03942.hp1 NA18747.hp1 others(2): Show HG02056.hp2 HG03942.hp1 NA18747.hp1 NA18967.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0002t0001g0161 others(2): Show a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0002t0001g0161 a0001c0002t0001g0182 a0001c0002t0001g0184	5	386	0.0130	29	c.-16 others(40): Show c.-1657_-1656insAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding		1207		chr10	TogoVar

Search by Variant

Search

Search Results (Total: 6085 hits)