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 (≤).

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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
MBD3L3_chr19_7051207_7063676	7054439	T T	TTATAATA others(32): Show TTATAATATAATTAAATAACATATAAATTATATTATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG03209.hp2 HG01109.hp1 HG01891.hp1 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0017 a0002c0002t0003g0042 a0002c0002t0003g0017 a0002c0002t0003g0042	3	288	0.0104	39	c.18 others(50): Show c.1882_*1883insTATTATAATATAATTTATATGTTATTTAATTATA TTATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		1767		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7054439	T T	TTATAATA others(32): Show TTATAATATAATTATATAACATATAAATTATATTATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01168.hp1 HG01169.hp1 HG01074.hp2 HG01168.hp1 HG01169.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	3	288	0.0104	39	c.18 others(50): Show c.1882_*1883insTATTATAATATAATTTATATGTTATATAATTATA TTATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		1767		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7054507	A A	ATATTATA others(32): Show ATATTATAATATATAATATAATTATATAACATATAAATTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	288	0.0035	39	c.18 others(50): Show c.1814_*1815insCAATTTATATGTTATATAATTATATTATATATTA TAATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		1699		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7062436	T T	TAATTATA others(32): Show TAATTATATATATTATAATATATAATTATATATATTATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01257.hp2 HG01346.hp2 others(2): Show HG00639.hp2 HG01257.hp2 HG01346.hp2 HG04199.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	288	0.0174	39	c.-38 others(50): Show c.-3832_-3831insTTATAATATATATAATTATATATTATAATATATA TAATT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3761		chr19	TogoVar
MBD5_chr2_148016091_148521971	148360031	T T	TGAATTTA others(32): Show TGAATTTATTCAGGAATATATTTCACTGAATATTCACTGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0002 a0001c0005t0002g0002	1	188	0.0053	39	c.-55 others(60): Show c.-557+17695_-557+17696insGAATTTATTCAGGAATATATTTCA CTGAATATTCACTGA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	4/13			chr2	TogoVar
MBNL2_chr13_97217333_97399120	97291900	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA19057.hp2 NA18943.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0106 a0001c0001t0002g0010 a0001c0001t0001g0106 a0001c0001t0002g0010	2	254	0.0079	39	c.174 others(58): Show c.174+15508_174+15509insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBP_chr18_76973833_77137783	77081819	T T	TATACACA others(32): Show TATACACACACACACATATATATACACACACTATACACAC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0288 a0001c0002t0006g0288	1	396	0.0025	39	c.52- others(56): Show c.52-15435_52-15434insGTGTGTATAGTGTGTGTATATATATGTG TGTGTGTGTAT	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	2/8			chr18	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(32): Show AAAAAAAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0222 a0001c0001t0016g0222	1	340	0.0029	39	c.41 others(50): Show c.4153_*4154insATATATATATATATATATATATATATATATTTTT TTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51190750	A A	AAAAAAAT others(32): Show AAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	340	0.0029	39	c.176 others(58): Show c.1768+1452_1768+1453insATATATATATATATATATATATATAT ATATATATTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	16/16			chr17	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	1	428	0.0023	39	c.-25 others(50): Show c.-2544_-2543insAAAAATATATATATATATATATATATATATATAT ATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	428	0.0023	39	c.-25 others(50): Show c.-2544_-2543insAAAAAAAAAAAAAAATATATATATATATATATAT ATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MCC_chr5_113017106_113493453	113420140	T T	TAAATCTT others(32): Show TAAATCTTATACTTAAGATTAAATATAAGATTAAATATAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG01074.hp1 others(24): Show HG00408.hp1 HG00408.hp2 HG01074.hp1 HG01243.hp2 HG01891.hp1 HG02055.hp2 HG02145.hp2 HG02280.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02886.hp1 HG02976.hp2 HG03130.hp1 HG03225.hp1 NA18612.hp2 NA18942.hp1 NA18975.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp1 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA20129.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0008 a0001c0010 a0001c0011 others(12): Show a0001c0008 a0001c0010 a0001c0011 a0001c0016 a0001c0017 a0001c0021 a0001c0024 a0001c0041 a0001c0042 a0001c0043 a0001c0044 a0001c0047 a0002c0001 a0002c0002 a0007c0058	a0001c0008t0004 a0001c0008t0017 a0001c0008t0044 others(19): Show a0001c0008t0004 a0001c0008t0017 a0001c0008t0044 a0001c0010t0018 a0001c0011t0001 a0001c0011t0004 a0001c0016t0006 a0001c0016t0023 a0001c0017t0002 a0001c0017t0003 a0001c0021t0026 a0001c0024t0009 a0001c0041t0045 a0001c0042t0001 a0001c0043t0021 a0001c0044t0010 a0001c0047t0002 a0002c0001t0002 a0002c0001t0003 a0002c0002t0001 a0002c0002t0012 a0007c0058t0007	a0001c0008t0004g0066 a0001c0008t0017g0050 a0001c0008t0044g0046 others(24): Show a0001c0008t0004g0066 a0001c0008t0017g0050 a0001c0008t0044g0046 a0001c0010t0018g0049 a0001c0011t0001g0039 a0001c0011t0004g0048 a0001c0011t0004g0051 a0001c0016t0006g0042 a0001c0016t0006g0052 a0001c0016t0023g0047 a0001c0017t0002g0040 a0001c0017t0003g0044 a0001c0021t0026g0037 a0001c0024t0009g0045 a0001c0041t0045g0067 a0001c0042t0001g0038 a0001c0043t0021g0043 a0001c0044t0010g0053 a0001c0047t0002g0041 a0002c0001t0002g0123 a0002c0001t0002g0124 a0002c0001t0002g0125 a0002c0001t0002g0155 a0002c0001t0003g0126 a0002c0002t0001g0156 a0002c0002t0012g0122 a0007c0058t0007g0159	27	160	0.1688	39	c.171 others(58): Show c.171-34967_171-34929dupTTATATTTAATCTTATATTTAATCTT AAGTATAAGATTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	1/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113420140	T T	TAAATCTT others(32): Show TAAATCTTATACTTAAGATTAAATGTAAGATTAAATATAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01258.hp2 HG01496.hp1 others(10): Show HG00733.hp2 HG01258.hp2 HG01496.hp1 HG02615.hp1 HG02622.hp1 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03041.hp1 NA18522.hp1	a0001 a0010 a0001 a0010	a0001c0009 a0001c0017 a0001c0021 others(6): Show a0001c0009 a0001c0017 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0045 a0010c0046	a0001c0009t0008 a0001c0017t0006 a0001c0021t0008 others(8): Show a0001c0009t0008 a0001c0017t0006 a0001c0021t0008 a0001c0022t0001 a0001c0023t0010 a0001c0023t0040 a0001c0024t0009 a0001c0025t0041 a0001c0025t0042 a0001c0045t0027 a0010c0046t0039	a0001c0009t0008g0110 a0001c0009t0008g0111 a0001c0017t0006g0055 others(10): Show a0001c0009t0008g0110 a0001c0009t0008g0111 a0001c0017t0006g0055 a0001c0021t0008g0058 a0001c0022t0001g0032 a0001c0022t0001g0064 a0001c0023t0010g0059 a0001c0023t0040g0057 a0001c0024t0009g0056 a0001c0025t0041g0063 a0001c0025t0042g0062 a0001c0045t0027g0061 a0010c0046t0039g0060	13	160	0.0813	39	c.171 others(58): Show c.171-34929_171-34928insTTATATTTAATCTTACATTTAATCTT AAGTATAAGATTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	1/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113420169	A A	ATTAAATA others(32): Show ATTAAATATAAAAATCTTATACTTAAGATTAAATATAAGC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03209.hp1 NA19030.hp2 others(1): Show HG02818.hp2 HG03209.hp1 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0008 a0001c0010 a0001c0008 a0001c0010	a0001c0008t0031 a0001c0010t0005 a0001c0010t0028 a0001c0008t0031 a0001c0010t0005 a0001c0010t0028	a0001c0008t0031g0034 a0001c0010t0005g0033 a0001c0010t0005g0036 others(1): Show a0001c0008t0031g0034 a0001c0010t0005g0033 a0001c0010t0005g0036 a0001c0010t0028g0035	4	160	0.0250	39	c.171 others(58): Show c.171-34958_171-34957insGCTTATATTTAATCTTAAGTATAAGA TTTTTATATTTAA	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	1/18			chr5	TogoVar
MCOLN2_chr1_84920583_85002113	84922462	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0034 a0001c0001t0005g0034	1	350	0.0029	39	c.42 others(50): Show c.4222_*4223insAAAAAAATATATATATATATATATATATATATAT ATATA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3120		chr1	TogoVar
MDN1_chr6_89637498_89824794	89670170	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	290	0.0035	39	c.139 others(58): Show c.13956+748_13956+749insAAAAAAAAAAAAATATATATATATAT ATATATATATATA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
ME1_chr6_83205402_83436051	83237274	A A	AGAAAGAA others(32): Show AGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00438.hp2 others(16): Show HG00099.hp2 HG00408.hp1 HG00438.hp2 HG01981.hp2 HG02083.hp2 HG02135.hp1 HG02135.hp2 NA18941.hp2 NA18944.hp1 NA18948.hp2 NA18969.hp2 NA18980.hp1 NA18981.hp1 NA18986.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0070 a0001c0001t0001g0149 a0001c0001t0001g0212 others(16): Show a0001c0001t0001g0070 a0001c0001t0001g0149 a0001c0001t0001g0212 a0001c0001t0002g0035 a0001c0001t0002g0049 a0001c0001t0002g0067 a0001c0001t0002g0197 a0001c0001t0003g0229 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0248 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0254 a0001c0001t0003g0257 a0001c0001t0003g0260 a0001c0001t0003g0263 a0001c0001t0003g0265	19	272	0.0699	39	c.102 others(56): Show c.1026+442_1026+443insCTTCCTTTCTTTCTTTCTCTTTCTTTCT TTCTTTCTTTC	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	9/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83237274	A A	AGAAAGAA others(32): Show AGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02886.hp2 HG02970.hp1 others(3): Show HG02280.hp1 HG02886.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp2 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0011 a0001c0003t0004g0012 a0001c0003t0004g0016 others(3): Show a0001c0003t0004g0011 a0001c0003t0004g0012 a0001c0003t0004g0016 a0001c0003t0004g0020 a0001c0003t0004g0021 a0001c0003t0004g0124	6	272	0.0221	39	c.102 others(56): Show c.1026+442_1026+443insCTTCCTTTCTTTCTTTCTTTCTCTTTCT TTCTTTCTTTC	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	9/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83277901	A A	AAATAATA others(32): Show AAATAATAATAATAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0214 a0002c0004t0005g0214	1	272	0.0037	39	c.705 others(58): Show c.705-24164_705-24163insATTATTATTATTATTATTATTATTAT TATTATTATTATT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13			chr6	TogoVar
MED13L_chr12_115953576_116282693	116031759	A A	AGAAAAGA others(32): Show AGAAAAGAAAAGAAAAGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0202 a0001c0001t0004g0202	1	254	0.0039	39	c.480 others(56): Show c.480-9159_480-9158insCTTCCTTCCTTCCTTCCTTCCTTCTTTT CTTTTCTTTTC	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED16_chr19_862963_898187	871774	A A	AGGGAGAG others(32): Show AGGGAGAGGGGGGAGCGGGGAGAGGGGAGAGGGGGAGAGC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0005 a0002c0003t0001g0005	1	56	0.0179	39	c.209 others(56): Show c.2098+151_2098+152insGCTCTCCCCCTCTCCCCTCTCCCCGCTC CCCCCTCTCCC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	12/15			chr19	TogoVar
MED16_chr19_862963_898187	871783	G G	GGGGGAGC others(32): Show GGGGGAGCGGGGAGAGGGGAGAGGGGAGAGCGGGGAGAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01099.hp2 HG01070.hp1 HG01099.hp2	a0002 a0007 a0002 a0007	a0002c0003 a0007c0019 a0002c0003 a0007c0019	a0002c0003t0001 a0007c0019t0001 a0002c0003t0001 a0007c0019t0001	a0002c0003t0001g0007 a0007c0019t0001g0017 a0002c0003t0001g0007 a0007c0019t0001g0017	2	56	0.0357	39	c.209 others(56): Show c.2098+142_2098+143insTTTCTCCCCGCTCTCCCCTCTCCCCTCT CCCCGCTCCCC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	12/15			chr19	TogoVar
MED27_chr9_131855112_132084867	131966383	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	274	0.0037	39	c.480 others(58): Show c.480-26910_480-26909insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MEIOB_chr16_1828986_1877164	1842623	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA20905.hp2 HG02080.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0135 a0001c0001t0001g0125 a0001c0001t0001g0135	2	380	0.0053	39	c.881 others(54): Show c.881-651_881-650insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	MEIOB	ENSG00000162039.18	transcript	ENST00000325962.9	protein_coding	10/13			chr16	TogoVar
MEIOC_chr17_44651468_44680801	44651858	A A	ATATATAT others(32): Show ATATATATATATATATATATATGTATATATATATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	352	0.0028	39	c.-47 others(50): Show c.-4756_-4755insTATATATATATATATATATATGTATATATATATA TACAT	MEIOC	ENSG00000180336.18	transcript	ENST00000409122.7	protein_coding		4609		chr17	TogoVar
MEIS1_chr2_66430125_66578869	66473397	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	246	0.0041	39	c.742 others(56): Show c.742+9178_742+9179insAAAAAAAAAAAAAAATATATATATATAT ATATATATATA	MEIS1	ENSG00000143995.20	transcript	ENST00000272369.14	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
METRNL_chr17_83074609_83100122	83090304	A A	ACACCCCC others(32): Show ACACCCCCCCACCCCCCGCCCCAGGGTGGGAACCACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0372 a0001c0001t0002g0372	1	399	0.0025	39	c.557 others(56): Show c.557-2862_557-2861insACCCCCCCACCCCCCGCCCCAGGGTGGG AACCACACACC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METTL21C_chr13_102680747_102700044	102685359	A A	AACAAAAA others(32): Show AACAAAAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0319 a0001c0001t0046g0319	1	488	0.0021	39	c.67 others(48): Show c.671_*672insATATATATATATATATATATATATATTTTTTTTTTT TGT	METTL21C	ENSG00000139780.8	transcript	ENST00000267273.7	protein_coding		387		chr13	TogoVar
METTL5_chr2_169806757_169829905	169829422	G G	GTTTTTTT others(32): Show GTTTTTTTTTTTTTTTTTTAATTGCAGCTAACATTTGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	412	0.0024	39	c.-48 others(50): Show c.-4826_-4825insACTCAAATGTTAGCTGCAATTAAAAAAAAAAAAA AAAAA	METTL5	ENSG00000138382.15	transcript	ENST00000260953.10	protein_coding		4518		chr2	TogoVar
METTL9_chr16_21594577_21662471	21622141	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA19060.hp1 NA18982.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0070 a0001c0001t0001g0041 a0001c0001t0001g0070	2	364	0.0055	39	c.567 others(56): Show c.567-2769_567-2768insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	METTL9	ENSG00000197006.15	transcript	ENST00000358154.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
MFGE8_chr15_88893683_88918379	88913993	T T	TAAAAAAA others(32): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG02027.hp2 HG02056.hp1 others(3): Show HG01261.hp2 HG02027.hp2 HG02056.hp1 HG02129.hp1 HG02523.hp1 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0002 a0001c0003t0002 a0002c0001t0001 others(1): Show a0001c0002t0002 a0001c0003t0002 a0002c0001t0001 a0002c0001t0002	a0001c0002t0002g0026 a0001c0003t0002g0003 a0002c0001t0001g0010 others(1): Show a0001c0002t0002g0026 a0001c0003t0002g0003 a0002c0001t0001g0010 a0002c0001t0002g0023	6	436	0.0138	39	c.-67 others(48): Show c.-675_-674insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	MFGE8	ENSG00000140545.16	transcript	ENST00000268150.13	protein_coding		615		chr15	TogoVar
MGAM2_chr7_142106718_142227324	142114203	A A	AAGGAAGG others(32): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0025 a0025	a0025c0027 a0025c0027	a0025c0027t0001 a0025c0027t0001	a0025c0027t0001g0040 a0025c0027t0001g0040	1	329	0.0030	39	c.-1+ others(54): Show c.-1+2397_-1+2398insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGA	MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM2_chr7_142106718_142227324	142114207	A A	AAGGAAGG others(32): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0051 a0051	a0051c0063 a0051c0063	a0051c0063t0001 a0051c0063t0001	a0051c0063t0001g0026 a0051c0063t0001g0026	1	329	0.0030	39	c.-1+ others(54): Show c.-1+2401_-1+2402insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGA	MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM2_chr7_142106718_142227324	142114215	A A	AAGGAAGG others(32): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03453.hp1 HG01891.hp2 HG03453.hp1	a0014 a0018 a0014 a0018	a0014c0014 a0018c0072 a0014c0014 a0018c0072	a0014c0014t0001 a0018c0072t0001 a0014c0014t0001 a0018c0072t0001	a0014c0014t0001g0011 a0018c0072t0001g0012 a0014c0014t0001g0011 a0018c0072t0001g0012	2	329	0.0061	39	c.-1+ others(54): Show c.-1+2408_-1+2409insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGG	MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	1/47			chr7	TogoVar
MGAM_chr7_141990879_142111747	142045828	A A	ATATCGTA others(32): Show ATATCGTATATACATACAATGTATGAATATATGATATAAT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0162 a0002c0009t0001g0162	1	316	0.0032	39	c.249 others(58): Show c.2499-1956_2499-1955insATCGTATATACATACAATGTATGAAT ATATGATATAATT	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGA_chr15_41655405_41774940	41656344	T T	TCTCTCTC others(32): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	292	0.0034	39	c.-42 others(50): Show c.-4249_-4248insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTC	MGA	ENSG00000174197.19	transcript	ENST00000703841.1	protein_coding		4060		chr15	TogoVar
MGA_chr15_41655405_41774940	41762461	G G	GTTTTTTG others(32): Show GTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	292	0.0034	39	c.789 others(56): Show c.7891+105_7891+106insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	MGA	ENSG00000174197.19	transcript	ENST00000703841.1	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
MGA_chr15_41655405_41774940	41762461	G G	GTTTTTTT others(32): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0002 a0008c0010t0002	a0008c0010t0002g0131 a0008c0010t0002g0131	1	292	0.0034	39	c.789 others(56): Show c.7891+129_7891+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	MGA	ENSG00000174197.19	transcript	ENST00000703841.1	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
MID1_chrX_10440556_10625585	10585877	T T	TATTATTA others(32): Show TATTATTAATGACAGCACAGGCATCGAATTTCAAGGTGAC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	165	0.0061	39	c.-56 others(58): Show c.-56-18313_-56-18275dupGTCACCTTGAAATTCGATGCCTGTGC TGTCATTAATAAT	MID1	ENSG00000101871.18	transcript	ENST00000317552.9	protein_coding	1/9			chrX	TogoVar
MIER2_chr19_300573_349796	300894	A A	AGAGACTG others(32): Show AGAGACTGTGGGACACCCATGGCCGTGACACCAGTGACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	384	0.0026	39	c.57 others(50): Show c.5795_*5796insCAGTCACTGGTGTCACGGCCATGGGTGTCCCACA GTCTC	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding		4678		chr19	TogoVar
MISP3_chr19_14067786_14080062	14075590	T T	TGTAATCC others(32): Show TGTAATCCCAGCACTTTGGGAGGCCGACGTGGGTGGATCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	378	0.0027	39	c.86 others(48): Show c.867_*868insGTAATCCCAGCACTTTGGGAGGCCGACGTGGGTGGA TCA	MISP3	ENSG00000141854.10	transcript	ENST00000587086.3	protein_coding		529		chr19	TogoVar
MIX23_chr3_122354591_122388231	122356134	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 NA19004.hp2 HG01192.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0173 a0001c0001t0004g0176 a0001c0001t0004g0173 a0001c0001t0004g0176	2	420	0.0048	39	c.37 others(50): Show c.3734_*3735insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	MIX23	ENSG00000160124.9	transcript	ENST00000291458.9	protein_coding		3456		chr3	TogoVar
MKLN1_chr7_131322876_131501632	131411906	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	320	0.0031	39	c.781 others(54): Show c.781+554_781+555insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	MKLN1	ENSG00000128585.18	transcript	ENST00000352689.11	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
MLPH_chr2_237482251_237560322	237543717	G G	GGAGGGGA others(32): Show GGAGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0097 a0002c0002t0018g0097	1	286	0.0035	39	c.153 others(58): Show c.1539+1059_1539+1060insAGGGGACAGTGGTGAGTGGGGGGACA GTGGTGAGTGGAG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLXIP_chr12_122073756_122152344	122121010	G G	GTTTTTTT others(32): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0253 a0002c0002t0002g0253	1	354	0.0028	39	c.414 others(56): Show c.414-6228_414-6227insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	MLXIP	ENSG00000175727.15	transcript	ENST00000319080.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
MMD2_chr7_4900998_4964187	4945185	T T	TTTCTTCT others(32): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp2 HG01257.hp1 others(2): Show HG00642.hp1 HG00673.hp2 HG01257.hp1 NA18995.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0002g0251 a0001c0001t0003g0088 a0001c0001t0004g0270 others(2): Show a0001c0001t0002g0251 a0001c0001t0003g0088 a0001c0001t0004g0270 a0001c0001t0004g0309 a0001c0002t0001g0014	5	382	0.0131	39	c.47+ others(56): Show c.47+13747_47+13785dupGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAA	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	1/6			chr7	TogoVar
MMD2_chr7_4900998_4964187	4945185	T T	TTTCTTCT others(32): Show TTTCTTCTTCTTCTTCTTCTTCTTTTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0343 a0001c0002t0014g0343	1	382	0.0026	39	c.47+ others(56): Show c.47+13785_47+13786insGAAGAAGAAGAAGAAAAAGAAGAAGAAG AAGAAGAAGAA	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	1/6			chr7	TogoVar
MMD2_chr7_4900998_4964187	4945630	A A	AGTGGCGC others(32): Show AGTGGCGCAATCTTGGCTCACTACAGCCTCTGCCTCCAGG	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0227 a0001c0001t0012g0227	1	382	0.0026	39	c.47+ others(56): Show c.47+13302_47+13340dupCCTGGAGGCAGAGGCTGTAGTGAGCCAA GATTGCGCCAC	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	1/6			chr7	TogoVar
MMP17_chr12_131823393_131856771	131827365	G G	GGGGGGGG others(32): Show GGGGGGGGGGGGGGGGGGGGGGGGAGGGGGGGGGTGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	398	0.0025	39	c.-11 others(50): Show c.-1130_-1129insGGGGGGGGGGGGGGGGGGGGGGGAGGGGGGGGGT GGGGT	MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding		1027		chr12	TogoVar
MMP17_chr12_131823393_131856771	131827366	G G	GGGGGGGG others(32): Show GGGGGGGGGGGGGGGGGGGGGGAGGGGGGGGGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0281 a0001c0003t0003g0281	1	398	0.0025	39	c.-11 others(50): Show c.-1129_-1128insGGGGGGGGGGGGGGGGGGGGGAGGGGGGGGGGGG GGGGT	MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding		1026		chr12	TogoVar

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Search Results (Total: 3425 hits)