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
MEIOC_chr17_44651468_44680801	44651858	A A	AAATATAT others(24): Show AAATATATATATATATATATATGTATGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	352	0.0028	31	c.-47 others(42): Show c.-4756_-4755insAATATATATATATATATATATGTATGTATAT	MEIOC	ENSG00000180336.18	transcript	ENST00000409122.7	protein_coding		4609		chr17	TogoVar
MEIOC_chr17_44651468_44680801	44651858	A A	ATATATAT others(24): Show ATATATATATATATATATATATGTATGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG02015.hp1 HG02109.hp2 others(2): Show HG01106.hp1 HG02015.hp1 HG02109.hp2 HG02148.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0034 a0001c0001t0001g0159 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0034 a0001c0001t0001g0159 a0001c0001t0001g0172	5	352	0.0142	31	c.-47 others(42): Show c.-4756_-4755insTATATATATATATATATATATGTATGTATAT	MEIOC	ENSG00000180336.18	transcript	ENST00000409122.7	protein_coding		4609		chr17	TogoVar
MEIOC_chr17_44651468_44680801	44651910	T T	TATATGTA others(24): Show TATATGTATGTATATATATACATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	352	0.0028	31	c.-47 others(42): Show c.-4704_-4703insATATGTATGTATATATATACATATATATATA	MEIOC	ENSG00000180336.18	transcript	ENST00000409122.7	protein_coding		4557		chr17	TogoVar
MEIOC_chr17_44651468_44680801	44670538	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG04228.hp2 NA18967.hp1 HG01358.hp1 HG04228.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0153 a0001c0001t0001g0032 a0001c0001t0001g0153	3	352	0.0085	31	c.245 others(50): Show c.2457+1041_2457+1042insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	MEIOC	ENSG00000180336.18	transcript	ENST00000409122.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
MEMO1_chr2_31862823_32016008	31966732	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02293.hp1 HG01261.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0001t0001g0159 a0001c0001t0001g0166	2	304	0.0066	31	c.62- others(48): Show c.62-23350_62-23349insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	MEMO1	ENSG00000162959.14	transcript	ENST00000404530.6	protein_coding	2/9			chr2	TogoVar
MERTK_chr2_111893607_112034561	111925292	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02630.hp2 HG01261.hp2 HG02630.hp2	a0003 a0011 a0003 a0011	a0003c0003 a0011c0014 a0003c0003 a0011c0014	a0003c0003t0009 a0011c0014t0001 a0003c0003t0009 a0011c0014t0001	a0003c0003t0009g0053 a0011c0014t0001g0132 a0003c0003t0009g0053 a0011c0014t0001g0132	2	288	0.0069	31	c.62- others(46): Show c.62-3827_62-3826insATATATATATATATATATATATATATATAT T	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
MERTK_chr2_111893607_112034561	111925292	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18522.hp1 HG02970.hp1 NA18522.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0005 a0005c0005t0003g0006 a0005c0005t0003g0005 a0005c0005t0003g0006	2	288	0.0069	31	c.62- others(46): Show c.62-3827_62-3826insATATATATATATATATATATATATTTTTTT T	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
MERTK_chr2_111893607_112034561	111925293	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0022 a0003c0003t0001g0022	1	288	0.0035	31	c.62- others(46): Show c.62-3827_62-3826insATATATATATATATATATATATATATATAT A	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	1/18			chr2	TogoVar
METAP1D_chr2_171994953_172087430	172016275	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0171 a0001c0001t0005g0171	1	356	0.0028	31	c.40+ others(48): Show c.40+16292_40+16293insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
METRNL_chr17_83074609_83100122	83090230	A A	ACACCCCC others(24): Show ACACCCCCCCCGCCCCGCCCCAGGGTGGGAAC	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA19055.hp2 HG04199.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0338 a0001c0001t0002g0096 a0001c0001t0001g0338 a0001c0001t0002g0096	2	399	0.0050	31	c.557 others(48): Show c.557-2934_557-2933insCCCCCCCGCCCCGCCCCAGGGTGGGAAC CAC	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(24): Show AACAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	488	0.0021	31	c.67 others(40): Show c.671_*672insATATATATATATATATATATATTTTTTTTGT	METTL21C	ENSG00000139780.8	transcript	ENST00000267273.7	protein_coding		387		chr13	TogoVar
METTL21C_chr13_102680747_102700044	102685359	A A	AACAAACA others(24): Show AACAAACAAACAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	488	0.0021	31	c.67 others(40): Show c.671_*672insATATATATATATATTTTTTTTGTTTGTTTGT	METTL21C	ENSG00000139780.8	transcript	ENST00000267273.7	protein_coding		387		chr13	TogoVar
METTL21C_chr13_102680747_102700044	102685359	A A	AACAAACA others(24): Show AACAAACAAACAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 NA18944.hp1 others(14): Show HG00438.hp1 HG00438.hp2 NA18944.hp1 NA18952.hp2 NA18966.hp2 NA18978.hp2 NA18981.hp1 NA18993.hp2 NA18997.hp2 NA18999.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19055.hp2 NA19066.hp2 NA19086.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0020 a0001c0001t0035 a0002c0004t0005	a0001c0001t0002g0178 a0001c0001t0003g0003 a0001c0001t0003g0005 others(9): Show a0001c0001t0002g0178 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0056 a0001c0001t0003g0059 a0001c0001t0003g0340 a0001c0001t0010g0050 a0001c0001t0010g0262 a0001c0001t0020g0363 a0001c0001t0020g0366 a0001c0001t0035g0063 a0002c0004t0005g0247	17	488	0.0348	31	c.67 others(40): Show c.671_*672insATATATATATATATATTTTTTGTTTGTTTGT	METTL21C	ENSG00000139780.8	transcript	ENST00000267273.7	protein_coding		387		chr13	TogoVar
METTL21C_chr13_102680747_102700044	102685359	A A	AACAAACA others(24): Show AACAAACAAACAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	488	0.0021	31	c.67 others(40): Show c.671_*672insATATATATATATATATATTTTGTTTGTTTGT	METTL21C	ENSG00000139780.8	transcript	ENST00000267273.7	protein_coding		387		chr13	TogoVar
METTL27_chr7_73829590_73847516	73842642	G G	GCCCCCCC others(24): Show GCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	372	0.0027	31	c.-15 others(40): Show c.-158_-157insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	METTL27	ENSG00000165171.11	transcript	ENST00000297873.9	protein_coding		127		chr7	TogoVar
METTL2B_chr7_128471748_128511602	128484217	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0130 a0001c0003t0002g0130	1	406	0.0025	31	c.608 others(48): Show c.608+3549_608+3550insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	METTL2B	ENSG00000165055.16	transcript	ENST00000262432.13	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
MEX3D_chr19_1549672_1573325	1550078	A A	ACACCACA others(24): Show ACACCACATCCATCCATCCCATCTACCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0206 a0001c0001t0024g0206	1	372	0.0027	31	c.54 others(42): Show c.5484_*5485insGAGTGGGTAGATGGGATGGATGGATGTGGTG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4593		chr19	TogoVar
MFGE8_chr15_88893683_88918379	88913993	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG04184.hp1 NA18948.hp2 others(4): Show HG02083.hp1 HG04184.hp1 NA18948.hp2 NA18982.hp2 NA18986.hp1 NA19003.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0001 a0001c0002t0002 a0002c0001t0001	a0001c0002t0002g0116 a0001c0002t0002g0142 a0001c0002t0002g0158 others(2): Show a0001c0002t0002g0116 a0001c0002t0002g0142 a0001c0002t0002g0158 a0002c0001t0001g0001 a0002c0001t0001g0186	7	436	0.0161	31	c.-67 others(40): Show c.-675_-674insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MFGE8	ENSG00000140545.16	transcript	ENST00000268150.13	protein_coding		615		chr15	TogoVar
MFSD14A_chr1_100033095_100088377	100059144	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	242	0.0041	31	c.243 others(46): Show c.243+443_243+444insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	MFSD14A	ENSG00000156875.14	transcript	ENST00000370152.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
MFSD14B_chr9_94369569_94466042	94373681	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG02486.hp1 NA19060.hp1 HG01346.hp1 HG02486.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0184 a0001c0001t0003g0126 a0001c0001t0003g0222 a0001c0001t0002g0184 a0001c0001t0003g0126 a0001c0001t0003g0222	3	350	0.0086	31	c.-11 others(42): Show c.-1139_-1138insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MFSD14B	ENSG00000148110.17	transcript	ENST00000375344.8	protein_coding		887		chr9	TogoVar
MFSD4B_chr6_111254339_111285005	111284328	T T	TTTTTTTT others(24): Show TTTTTTTTTTGAATGAAGGTCTTGTTGAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	364	0.0028	31	c.17 others(44): Show c.17209_*17210insTTTTTTTTTGAATGAAGGTCTTGTTGAGAAA	MFSD4B	ENSG00000173214.7	transcript	ENST00000671876.2	protein_coding		4324		chr6	TogoVar
MGAM2_chr7_142106718_142227324	142114199	A A	AAGGAAGG others(24): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0323 a0012c0012t0001g0323	1	329	0.0030	31	c.-1+ others(46): Show c.-1+2393_-1+2394insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG A	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(24): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19078.hp2 HG02922.hp1 NA19078.hp2	a0002 a0015 a0002 a0015	a0002c0002 a0015c0015 a0002c0002 a0015c0015	a0002c0002t0001 a0015c0015t0001 a0002c0002t0001 a0015c0015t0001	a0002c0002t0001g0318 a0015c0015t0001g0013 a0002c0002t0001g0318 a0015c0015t0001g0013	2	329	0.0061	31	c.-1+ others(46): Show c.-1+2401_-1+2402insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG A	MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM2_chr7_142106718_142227324	142114211	A A	AAGGAAGG others(24): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0317 a0012c0012t0001g0317	1	329	0.0030	31	c.-1+ others(46): Show c.-1+2405_-1+2406insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG A	MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM2_chr7_142106718_142227324	142115408	G G	GGGGGAGG others(24): Show GGGGGAGGAGCGCGGGGGGAGGGCAAGGGAGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0071 a0002c0071	a0002c0071t0001 a0002c0071t0001	a0002c0071t0001g0214 a0002c0071t0001g0214	1	329	0.0030	31	c.1-1 others(44): Show c.1-1466_1-1465insGGGGAGGAGCGCGGGGGGAGGGCAAGGGAGA	MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	1/47			chr7	TogoVar
MGAM2_chr7_142106718_142227324	142174715	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA19000.hp2 NA18973.hp2 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0001 a0002c0002t0001 a0001c0004t0001 a0002c0002t0001	a0001c0004t0001g0164 a0002c0002t0001g0215 a0001c0004t0001g0164 a0002c0002t0001g0215	2	329	0.0061	31	c.368 others(48): Show c.3688-919_3688-918insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142043946	T T	TTAATATA others(24): Show TTAATATATACATTATATACACATACGACGTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(67): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01175.hp2 HG01258.hp2 HG01261.hp1 HG01515.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02080.hp1 HG02155.hp2 HG02602.hp1 HG02683.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG03239.hp1 HG03239.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18948.hp1 NA18950.hp1 NA18953.hp1 NA18955.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18971.hp2 NA18974.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18990.hp2 NA19001.hp1 NA19004.hp2 NA19005.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19060.hp1 NA19060.hp2 NA19070.hp1 NA19074.hp1 NA19076.hp2 NA19082.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA20752.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0023 a0047 a0050 a0054 a0069 a0070	a0001c0001 a0001c0010 a0001c0011 others(31): Show a0001c0001 a0001c0010 a0001c0011 a0001c0015 a0001c0026 a0001c0034 a0001c0081 a0001c0082 a0001c0091 a0001c0103 a0001c0117 a0002c0002 a0002c0009 a0002c0016 a0002c0019 a0002c0033 a0002c0099 a0002c0105 a0002c0106 a0002c0110 a0003c0006 a0004c0018 a0005c0007 a0005c0085 a0006c0014 a0006c0065 a0008c0022 a0009c0095 a0023c0029 a0047c0088 a0050c0093 a0054c0084 a0069c0046 a0070c0045	a0001c0001t0001 a0001c0010t0001 a0001c0011t0001 others(32): Show a0001c0001t0001 a0001c0010t0001 a0001c0011t0001 a0001c0015t0001 a0001c0026t0001 a0001c0034t0001 a0001c0081t0001 a0001c0082t0001 a0001c0091t0001 a0001c0103t0001 a0001c0117t0001 a0002c0002t0001 a0002c0009t0001 a0002c0016t0001 a0002c0016t0004 a0002c0019t0001 a0002c0033t0001 a0002c0099t0001 a0002c0105t0001 a0002c0106t0001 a0002c0110t0001 a0003c0006t0001 a0004c0018t0001 a0005c0007t0001 a0005c0085t0001 a0006c0014t0001 a0006c0065t0001 a0008c0022t0001 a0009c0095t0001 a0023c0029t0001 a0047c0088t0001 a0050c0093t0002 a0054c0084t0001 a0069c0046t0001 a0070c0045t0001	a0001c0001t0001g0123 a0001c0001t0001g0137 a0001c0001t0001g0169 others(67): Show a0001c0001t0001g0123 a0001c0001t0001g0137 a0001c0001t0001g0169 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0285 a0001c0010t0001g0225 a0001c0011t0001g0289 a0001c0015t0001g0215 a0001c0026t0001g0216 a0001c0034t0001g0140 a0001c0034t0001g0141 a0001c0081t0001g0193 a0001c0082t0001g0236 a0001c0091t0001g0033 a0001c0103t0001g0156 a0001c0117t0001g0254 a0002c0002t0001g0011 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0037 a0002c0002t0001g0133 a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0146 a0002c0002t0001g0151 a0002c0002t0001g0159 a0002c0002t0001g0167 a0002c0002t0001g0174 a0002c0002t0001g0204 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0284 a0002c0002t0001g0288 a0002c0009t0001g0218 a0002c0016t0001g0012 a0002c0016t0001g0122 a0002c0016t0001g0251 a0002c0016t0004g0139 a0002c0019t0001g0143 a0002c0019t0001g0270 a0002c0019t0001g0315 a0002c0033t0001g0286 a0002c0033t0001g0287 a0002c0099t0001g0294 a0002c0105t0001g0187 a0002c0106t0001g0014 a0002c0110t0001g0160 a0003c0006t0001g0090 a0003c0006t0001g0237 a0003c0006t0001g0255 a0004c0018t0001g0166 a0005c0007t0001g0071 a0005c0085t0001g0125 a0006c0014t0001g0104 a0006c0014t0001g0219 a0006c0014t0001g0230 a0006c0014t0001g0265 a0006c0065t0001g0264 a0008c0022t0001g0015 a0008c0022t0001g0053 a0009c0095t0001g0242 a0023c0029t0001g0226 a0047c0088t0001g0145 a0050c0093t0002g0241 a0054c0084t0001g0246 a0069c0046t0001g0152 a0070c0045t0001g0039	70	316	0.2215	31	c.249 others(50): Show c.2498+3199_2498+3229dupTATACATTATATACACATACGACGTA TAATA	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142043974	C C	CGTATAAT others(24): Show CGTATAATATATACATTATGTACACATACGAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02055.hp1 others(7): Show HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02486.hp1 HG02809.hp1 HG02922.hp2 HG03041.hp1 HG03453.hp2 HG06807.hp2 NA19030.hp2	a0001 a0012 a0045 a0001 a0012 a0045	a0001c0015 a0001c0039 a0001c0041 others(4): Show a0001c0015 a0001c0039 a0001c0041 a0001c0133 a0012c0042 a0012c0098 a0045c0135	a0001c0015t0001 a0001c0039t0003 a0001c0041t0001 others(4): Show a0001c0015t0001 a0001c0039t0003 a0001c0041t0001 a0001c0133t0001 a0012c0042t0001 a0012c0098t0001 a0045c0135t0001	a0001c0015t0001g0312 a0001c0039t0003g0040 a0001c0039t0003g0307 others(7): Show a0001c0015t0001g0312 a0001c0039t0003g0040 a0001c0039t0003g0307 a0001c0041t0001g0243 a0001c0041t0001g0304 a0001c0133t0001g0305 a0012c0042t0001g0008 a0012c0042t0001g0059 a0012c0098t0001g0224 a0045c0135t0001g0306	10	316	0.0317	31	c.249 others(50): Show c.2498+3146_2498+3147insGTACACATACGAAGTATAATATATAC ATTAT	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142044187	C C	CGTATAAT others(24): Show CGTATAATATGTACATTATATACACATACGAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02895.hp1 HG02897.hp1 others(2): Show HG02258.hp2 HG02895.hp1 HG02897.hp1 HG03130.hp2 HG03209.hp2	a0001 a0018 a0042 others(1): Show a0001 a0018 a0042 a0049	a0001c0078 a0018c0036 a0042c0107 others(1): Show a0001c0078 a0018c0036 a0042c0107 a0049c0054	a0001c0078t0001 a0018c0036t0001 a0042c0107t0001 others(1): Show a0001c0078t0001 a0018c0036t0001 a0042c0107t0001 a0049c0054t0001	a0001c0078t0001g0065 a0018c0036t0001g0056 a0018c0036t0001g0057 others(2): Show a0001c0078t0001g0065 a0018c0036t0001g0056 a0018c0036t0001g0057 a0042c0107t0001g0309 a0049c0054t0001g0165	5	316	0.0158	31	c.249 others(50): Show c.2498+3341_2498+3342insGTATAATATGTACATTATATACACAT ACGAT	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70			chr7	TogoVar
MGAM_chr7_141990879_142111747	142045119	A A	ATGATATA others(24): Show ATGATATATATGTATATTATATATCATATATG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0018 a0018	a0018c0036 a0018c0036	a0018c0036t0001 a0018c0036t0001	a0018c0036t0001g0056 a0018c0036t0001g0057 a0018c0036t0001g0056 a0018c0036t0001g0057	2	316	0.0063	31	c.249 others(50): Show c.2499-2657_2499-2656insTGTATATTATATATCATATATGTGAT ATATA	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142045156	A A	ATATATAA others(24): Show ATATATAATATATATATTATATAACATATATG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03130.hp2 HG02258.hp2 HG03130.hp2	a0001 a0042 a0001 a0042	a0001c0078 a0042c0107 a0001c0078 a0042c0107	a0001c0078t0001 a0042c0107t0001 a0001c0078t0001 a0042c0107t0001	a0001c0078t0001g0065 a0042c0107t0001g0309 a0001c0078t0001g0065 a0042c0107t0001g0309	2	316	0.0063	31	c.249 others(50): Show c.2499-2628_2499-2598dupTATATAATATATATATTATATAACAT ATATG	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142045864	A A	ATATACAT others(24): Show ATATACATACAATATGTAATATATATATTATG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0204 a0002c0002t0001g0204	1	316	0.0032	31	c.249 others(50): Show c.2499-1864_2499-1834dupATTATGTATACATACAATATGTAATA TATAT	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAT5_chr2_134249072_134459621	134387332	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0009 a0001c0001t0058g0009	1	282	0.0036	31	c.138 others(52): Show c.1381-15655_1381-15654insATATATATATATATATATATATAT ATATTTT	MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MGAT5_chr2_134249072_134459621	134387332	A A	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0022 a0001c0001t0014 a0001c0001t0022	a0001c0001t0014g0086 a0001c0001t0014g0087 a0001c0001t0022g0024 a0001c0001t0014g0086 a0001c0001t0014g0087 a0001c0001t0022g0024	3	282	0.0106	31	c.138 others(52): Show c.1381-15655_1381-15654insATATATATATATATATATATATTT TTTTTTT	MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MGAT5_chr2_134249072_134459621	134387332	A A	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0263 a0001c0001t0103g0263	1	282	0.0036	31	c.138 others(52): Show c.1381-15655_1381-15654insATATATATATATATATATTTTTTT TTTTTTT	MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MGA_chr15_41655405_41774940	41656344	T T	TCTCTCTC others(24): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 NA18953.hp1 NA18954.hp1 others(1): Show HG02523.hp2 NA18953.hp1 NA18954.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0112 others(1): Show a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0112 a0001c0001t0002g0119	4	292	0.0137	31	c.-42 others(42): Show c.-4249_-4248insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	MGA	ENSG00000174197.19	transcript	ENST00000703841.1	protein_coding		4060		chr15	TogoVar
MGMT_chr10_129462241_129775983	129646754	A A	ATATATAT others(24): Show ATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0091 a0002c0006t0004g0091	1	194	0.0052	31	c.126 others(50): Show c.126-61140_126-61139insATATATATATATATATTTTTTTTTTT TTTTT	MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MGMT_chr10_129462241_129775983	129646754	A A	ATATATAT others(24): Show ATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0035 a0001c0001t0042g0035	1	194	0.0052	31	c.126 others(50): Show c.126-61140_126-61139insATATATATATATATTTTTTTTTTTTT TTTTT	MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MGST2_chr4_139660819_139709243	139702844	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 homoSapiens_chm13v2.hp1 HG01261.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0089 a0001c0001t0001g0027 a0001c0001t0001g0089	2	440	0.0046	31	c.230 others(46): Show c.230-585_230-584insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	MGST2	ENSG00000085871.9	transcript	ENST00000265498.6	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
MICA_chr6_31398595_31420315	31418067	G G	GAATAGCT others(24): Show GAATAGCTGGGATTACAGGCATGCACCACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0054 a0001c0016t0002g0054	1	439	0.0023	31	c.30 others(42): Show c.3085_*3086insAATAGCTGGGATTACAGGCATGCACCACCAC	MICA	ENSG00000204520.14	transcript	ENST00000449934.7	protein_coding		2753		chr6	TogoVar
MIGA1_chr1_77774649_77884540	77829805	T T	TTTTTAAT others(24): Show TTTTTAATGTTTGGATAGGTAATTGCCTCAGC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	280	0.0036	31	c.800 others(50): Show c.800-13487_800-13486insAGGTAATTGCCTCAGCTTTTAATGTT TGGAT	MIGA1	ENSG00000180488.17	transcript	ENST00000370791.9	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
MINAR1_chr15_79427336_79477304	79438192	T T	TAGTGTGT others(24): Show TAGTGTGTGGGGTGTGGATGGGGTGGGTAGTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0083 a0001c0014t0001g0083	1	390	0.0026	31	c.-51 others(48): Show c.-51+5731_-51+5761dupATGGGGTGGGTAGTGAGTGTGTGGGGTG TGG	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
MINAR1_chr15_79427336_79477304	79438895	G G	GTGGGGTG others(24): Show GTGGGGTGGGTAGTGAGTGTGTGGGGTGTGGA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0041 a0003c0005t0041	a0003c0005t0041g0076 a0003c0005t0041g0076	1	390	0.0026	31	c.-51 others(48): Show c.-51+6408_-51+6438dupGGGGTGTGGATGGGGTGGGTAGTGAGTG TGT	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
MIPEP_chr13_23725189_23894400	23831383	C C	CGGGGGGG others(24): Show CGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	306	0.0033	31	c.165 others(50): Show c.1653+4856_1653+4857insCGCCCCCCCCCCCCCCCCCCCCCCCC CCCCC	MIPEP	ENSG00000027001.10	transcript	ENST00000382172.4	protein_coding	14/18			chr13	TogoVar
MIX23_chr3_122354591_122388231	122356134	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02258.hp2 HG03490.hp2 HG01109.hp2 HG02258.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0018 a0001c0001t0004 a0001c0001t0018	a0001c0001t0004g0042 a0001c0001t0018g0190 a0001c0001t0018g0191 a0001c0001t0004g0042 a0001c0001t0018g0190 a0001c0001t0018g0191	3	420	0.0071	31	c.37 others(42): Show c.3734_*3735insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	MIX23	ENSG00000160124.9	transcript	ENST00000291458.9	protein_coding		3456		chr3	TogoVar
MKI67_chr10_128091659_128131423	128129274	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0073 a0073	a0073c0048 a0073c0048	a0073c0048t0012 a0073c0048t0012	a0073c0048t0012g0198 a0073c0048t0012g0198	1	408	0.0025	31	c.-32 others(42): Show c.-3266_-3265insTATATATATATATATATATATATATATATAT	MKI67	ENSG00000148773.14	transcript	ENST00000368654.8	protein_coding		2852		chr10	TogoVar
MKLN1_chr7_131322876_131501632	131411906	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0278 a0001c0001t0012g0278	1	320	0.0031	31	c.781 others(46): Show c.781+524_781+554dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	MKLN1	ENSG00000128585.18	transcript	ENST00000352689.11	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
MLC1_chr22_50054391_50090426	50081009	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA19062.hp2 NA19066.hp2 HG03239.hp1 NA19062.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0018 a0001c0001t0001g0128 a0001c0001t0008g0049 a0001c0001t0001g0018 a0001c0001t0001g0128 a0001c0001t0008g0049	3	212	0.0142	31	c.268 others(46): Show c.268-613_268-612insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding	3/11			chr22	TogoVar
MLEC_chr12_120682149_120706859	120704738	T T	TATGTATT others(24): Show TATGTATTTATATATATGTAATATATATGTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	408	0.0025	31	c.81 others(42): Show c.8193_*8194insATGTATTTATATATATGTAATATATATGTAA	MLEC	ENSG00000110917.8	transcript	ENST00000228506.8	protein_coding		2880		chr12	TogoVar
MLLT3_chr9_20336669_20627499	20457238	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0129 a0001c0001t0047g0129	1	186	0.0054	31	c.194 others(46): Show c.194-453_194-452insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	MLLT3	ENSG00000171843.17	transcript	ENST00000380338.9	protein_coding	2/10			chr9	TogoVar

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Search Results (Total: 5228 hits)