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
MAML1_chr5_179727822_179782283	179748244	G G	GTTGTATT others(28): Show GTTGTATTTTTTTATTTTTGTATTTTTGTATTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0008 a0002c0009t0008	a0002c0009t0008g0336 a0002c0009t0008g0336	1	360	0.0028	35	c.315 others(54): Show c.315+14817_315+14818insTTGTATTTTTTTATTTTTGTATTTTT GTATTTTTT	MAML1	ENSG00000161021.13	transcript	ENST00000292599.4	protein_coding	1/4			chr5	TogoVar
MAML2_chr11_95971598_96348195	96121780	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0016 a0001c0001t0014g0016	1	230	0.0044	35	c.514 others(54): Show c.514-28264_514-28263insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAN1A1_chr6_119172205_119354761	119193158	G G	GATTATTA others(28): Show GATTATTATTGTGAGTAATAATCTCAAGATTATTAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02970.hp2 HG02976.hp1 others(1): Show HG02055.hp2 HG02970.hp2 HG02976.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 others(1): Show a0001c0002t0001g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0348	4	350	0.0114	35	c.132 others(52): Show c.1326+618_1326+619insATAATAATCTTGAGATTATTACTCACAA TAATAAT	MAN1A1	ENSG00000111885.7	transcript	ENST00000368468.4	protein_coding	9/12			chr6	TogoVar
MAN1B1_chr9_137081985_137114183	137101986	A A	AGTACAGG others(28): Show AGTACAGGTCGGTGTTACATTCACGCTGTTGCAGGC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA19084.hp1 NA18978.hp2 NA19084.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0040 a0007c0011t0002g0040	2	404	0.0050	35	c.125 others(52): Show c.1254+327_1254+328insTTACATTCACGCTGTTGCAGGCGTACAG GTCGGTG	MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAN1C1_chr1_25611791_25789450	25644518	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0154 a0001c0002t0003g0154	1	250	0.0040	35	c.540 others(54): Show c.540+26182_540+26183insATATATATATATATATATATATATAT ATTTTTTTT	MAN1C1	ENSG00000117643.16	transcript	ENST00000374332.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
MANBAL_chr20_37284655_37322260	37317284	A A	AGGGGGGG others(28): Show AGGGGGGGGGGGGGGGGGGGGAGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	272	0.0037	35	c.86 others(44): Show c.869_*870insGGGGGGGGGGGGGGGGGGGGAGGGGGGGGGGGGGG	MANBAL	ENSG00000101363.13	transcript	ENST00000373606.8	protein_coding		25		chr20	TogoVar
MAP2K3_chr17_21279711_21320232	21291341	T T	TAGAATAC others(28): Show TAGAATACAGTACAATACAATACAACACAACACAAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0116 a0001c0001t0003g0116	1	366	0.0027	35	c.49+ others(50): Show c.49+6373_49+6374insGAATACAGTACAATACAATACAACACAACA CAACA	MAP2K3	ENSG00000034152.20	transcript	ENST00000342679.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAP3K13_chr3_185358136_185494094	185371713	G G	GAGGCAGG others(28): Show GAGGCAGGTGGCAGCCAGGACAGCAGTTTCCACCTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0180 a0001c0001t0003g0180	1	278	0.0036	35	c.-86 others(52): Show c.-86+8368_-86+8369insAGTTTCCACCTTAGGCAGGTGGCAGCCA GGACAGC	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185455257	G G	GATATATA others(28): Show GATATATATATGATATATATGAGATATATGAGATAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18949.hp1 NA18966.hp2 others(3): Show NA18612.hp1 NA18949.hp1 NA18966.hp2 NA18981.hp2 NA19005.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 a0001c0001t0001 a0001c0001t0003 a0001c0001t0020	a0001c0001t0001g0149 a0001c0001t0003g0041 a0001c0001t0003g0141 others(3): Show a0001c0001t0001g0149 a0001c0001t0003g0041 a0001c0001t0003g0141 a0001c0001t0003g0237 a0001c0001t0003g0269 a0001c0001t0020g0123	6	278	0.0216	35	c.127 others(54): Show c.1278+3868_1278+3869insATATGATATATATGAGATATATGAGA TATATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K15_chrX_19355059_19520508	19478066	A A	AGGGGGAG others(28): Show AGGGGGAGAGGGGGAGGGGGGAGAGGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0000 a0000	a0000c0021 a0000c0021	a0000c0021t0007 a0000c0021t0007	a0000c0021t0007g0054 a0000c0021t0007g0054	1	163	0.0061	35	c.525 others(52): Show c.525+8415_525+8416insCCCCCTCCCCCCTCTCCCCCCTCCCCCT CTCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(28): Show ATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	334	0.0030	35	c.160 others(54): Show c.160-35376_160-35375insATATATATATATATATATATTTTTTT TTTTTTTTT	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(28): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	334	0.0030	35	c.160 others(54): Show c.160-35376_160-35375insATATATATATATATATTTTTTTTTTT TTTTTTTTT	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(28): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	334	0.0030	35	c.160 others(54): Show c.160-35376_160-35375insATATATATATATATTTTTTTTTTTTT TTTTTTTTT	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K5_chr6_136552046_136797477	136737057	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0086 a0001c0006t0001g0086	1	162	0.0062	35	c.449 others(54): Show c.449-16469_449-16468insATATATATATATATATATATATATAT ATATATATA	MAP3K5	ENSG00000197442.11	transcript	ENST00000359015.5	protein_coding	1/29			chr6	TogoVar
MAP3K8_chr10_30429184_30466833	30432976	G G	GAGAGAGA others(28): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG02040.hp1 HG02109.hp1 others(6): Show HG01071.hp1 HG02040.hp1 HG02109.hp1 HG02258.hp2 HG02602.hp1 HG03225.hp2 NA18979.hp1 NA19066.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0084 a0001c0002t0001g0002 others(6): Show a0001c0001t0001g0005 a0001c0001t0001g0084 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0180 a0001c0002t0001g0183	9	386	0.0233	35	c.-16 others(46): Show c.-1657_-1656insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG A	MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding		1207		chr10	TogoVar
MAP3K8_chr10_30429184_30466833	30432978	G G	GAGAGAGA others(28): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0028 a0001c0001t0014g0028	1	386	0.0026	35	c.-16 others(46): Show c.-1655_-1654insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG A	MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding		1205		chr10	TogoVar
MAP4K3_chr2_39244266_39442285	39415980	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 homoSapiens_chm13v2.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0111 a0001c0002t0001g0115 a0001c0002t0001g0111 a0001c0002t0001g0115	2	232	0.0086	35	c.96+ others(52): Show c.96+20911_96+20912insATATATATATATATATATATATATATAT TTTTTTT	MAP4K3	ENSG00000011566.15	transcript	ENST00000263881.8	protein_coding	1/33			chr2	TogoVar
MAP4_chr3_47845695_48021416	47997326	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02572.hp2 HG00733.hp1 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0002 a0002c0011t0002 a0002c0002t0002 a0002c0011t0002	a0002c0002t0002g0056 a0002c0011t0002g0073 a0002c0002t0002g0056 a0002c0011t0002g0073	2	232	0.0086	35	c.223 others(52): Show c.223+1311_223+1312insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	MAP4	ENSG00000047849.22	transcript	ENST00000683076.1	protein_coding	2/20			chr3	TogoVar
MAPK8_chr10_48301677_48444360	48413858	T T	TATATATA others(28): Show TATATATATATTCAATATATATATATATATATAACA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0234 a0001c0001t0015g0234	1	306	0.0033	35	c.450 others(52): Show c.450+3692_450+3693insATATATATTCAATATATATATATATATA TAACAAT	MAPK8	ENSG00000107643.17	transcript	ENST00000374189.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0016 a0010c0013t0016	a0010c0013t0016g0023 a0010c0013t0016g0023	1	328	0.0031	35	c.114 others(54): Show c.114+11389_114+11390insAAAAAAAAATATATATATATATATAT ATATATATA	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MARCHF10_chr17_62696314_62813314	62723559	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18951.hp2 NA18965.hp1 HG02559.hp1 NA18951.hp2 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0116 a0001c0001t0001g0260 a0001c0001t0001g0047 a0001c0001t0001g0116 a0001c0001t0001g0260	3	280	0.0107	35	c.210 others(52): Show c.2105-963_2105-962insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	MARCHF10	ENSG00000173838.12	transcript	ENST00000311269.10	protein_coding	7/10			chr17	TogoVar
MARCHF3_chr5_126862714_127035558	126866880	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	1	296	0.0034	35	c.37 others(46): Show c.3752_*3753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding		833		chr5	TogoVar
MARCO_chr2_118937194_118999660	118986646	A A	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	394	0.0025	35	c.106 others(54): Show c.1064-3934_1064-3933insAGAAAGAAAGAAAGAAAGAAAGAAAG AAGAAAGAA	MARCO	ENSG00000019169.11	transcript	ENST00000327097.5	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MARK3_chr14_103380415_103508831	103382182	A A	AGAAGGAA others(28): Show AGAAGGAAGGAAGGAAGGAAGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG02723.hp2 HG02886.hp1 others(1): Show HG01099.hp2 HG02723.hp2 HG02886.hp1 HG03041.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0002c0008 a0007c0009 a0002c0002 a0002c0008 a0007c0009	a0002c0002t0001 a0002c0008t0001 a0007c0009t0001 a0002c0002t0001 a0002c0008t0001 a0007c0009t0001	a0002c0002t0001g0197 a0002c0002t0001g0208 a0002c0008t0001g0199 others(1): Show a0002c0002t0001g0197 a0002c0002t0001g0208 a0002c0008t0001g0199 a0007c0009t0001g0203	4	348	0.0115	35	c.-38 others(46): Show c.-3848_-3847insGAAGGAAGGAAGGAAGGAAGAAGGAAGGAAGGAA G	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding		3232		chr14	TogoVar
MARK3_chr14_103380415_103508831	103467674	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	348	0.0029	35	c.111 others(52): Show c.1111-336_1111-335insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARS1_chr12_57483068_57521652	57493835	A A	AATATATT others(28): Show AATATATTATATATATTATATAATATATATTATATT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	288	0.0035	35	c.770 others(52): Show c.770+3191_770+3192insATATATTATATATATTATATAATATATA TTATATT	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20			chr12	TogoVar
MATN2_chr8_97864064_98041724	98041402	C C	CATCTCTG others(28): Show CATCTCTGGCTCACTGTAGCTCGCCTCAGGTTCAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	318	0.0031	35	c.56 others(46): Show c.5690_*5691insATCTCTGGCTCACTGTAGCTCGCCTCAGGTTCAA G	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding		4679		chr8	TogoVar
MBD5_chr2_148016091_148521971	148288399	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0104 a0001c0001t0007g0104	1	188	0.0053	35	c.-67 others(56): Show c.-679-53800_-679-53799insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148296863	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0038 a0001c0001t0004g0038	1	188	0.0053	35	c.-67 others(56): Show c.-679-45351_-679-45350insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13			chr2	TogoVar
MBIP_chr14_36293564_36325637	36294279	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0018 a0002c0004t0002g0018	1	312	0.0032	35	c.48 others(46): Show c.4803_*4804insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	MBIP	ENSG00000151332.20	transcript	ENST00000416007.9	protein_coding		4284		chr14	TogoVar
MBNL2_chr13_97217333_97399120	97291900	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01975.hp2 NA18967.hp1 HG01167.hp1 HG01975.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0026 a0001c0001t0001g0226 a0001c0001t0002g0111 a0001c0001t0001g0026 a0001c0001t0001g0226 a0001c0001t0002g0111	3	254	0.0118	35	c.174 others(54): Show c.174+15508_174+15509insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL2_chr13_97217333_97399120	97368412	T T	TTAAAATA others(28): Show TTAAAATAAAATAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp2 HG02818.hp1 others(2): Show HG02572.hp2 HG02717.hp2 HG02818.hp1 HG02970.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0007 a0001c0002t0006g0126 a0001c0002t0006g0197 others(2): Show a0001c0001t0001g0007 a0001c0002t0006g0126 a0001c0002t0006g0197 a0001c0002t0006g0212 a0001c0002t0006g0248	5	254	0.0197	35	c.104 others(54): Show c.1048+3268_1048+3269insAAATAAAATAAAATAAAATAAAATAA AATAAAATA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBOAT1_chr6_20094684_20217469	20168630	A A	AGAGAGGA others(28): Show AGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG02486.hp1 others(2): Show HG01884.hp2 HG02145.hp2 HG02486.hp1 HG03195.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0010 a0002c0002t0019 a0003c0003t0006 others(1): Show a0001c0001t0010 a0002c0002t0019 a0003c0003t0006 a0003c0003t0027	a0001c0001t0010g0008 a0001c0001t0010g0223 a0002c0002t0019g0318 others(2): Show a0001c0001t0010g0008 a0001c0001t0010g0223 a0002c0002t0019g0318 a0003c0003t0006g0070 a0003c0003t0027g0202	5	336	0.0149	35	c.100 others(54): Show c.100-15862_100-15861insCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTC	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20168635	A A	AGAGAGGA others(28): Show AGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0095 a0001c0001t0023g0095	1	336	0.0030	35	c.100 others(54): Show c.100-15867_100-15866insCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTC	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20168640	A A	AGAGAGGA others(28): Show AGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01257.hp2 HG02293.hp1 others(2): Show HG00642.hp1 HG01257.hp2 HG02293.hp1 NA18957.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0023 a0001c0001t0053	a0001c0001t0001g0164 a0001c0001t0004g0099 a0001c0001t0008g0057 others(2): Show a0001c0001t0001g0164 a0001c0001t0004g0099 a0001c0001t0008g0057 a0001c0001t0023g0086 a0001c0001t0053g0128	5	336	0.0149	35	c.100 others(54): Show c.100-15872_100-15871insCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTC	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBP_chr18_76973833_77137783	77036087	G G	GTTTTGGA others(28): Show GTTTTGGAGGACTGAGCTGAGCAAGTGCTGGTCACA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01258.hp1 HG01934.hp1 HG01074.hp1 HG01258.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0002 a0001c0002t0021 a0001c0001t0005 a0001c0002t0002 a0001c0002t0021	a0001c0001t0005g0263 a0001c0002t0002g0253 a0001c0002t0021g0293 a0001c0001t0005g0263 a0001c0002t0002g0253 a0001c0002t0021g0293	3	396	0.0076	35	c.140 others(54): Show c.140-18854_140-18820dupTGTGACCAGCACTTGCTCAGCTCAGT CCTCCAAAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77081813	C C	CATATATA others(28): Show CATATATACACACACACACATATATATACACACACT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp2 HG02572.hp1 others(7): Show HG01891.hp2 HG02257.hp2 HG02572.hp1 HG02602.hp2 HG03195.hp1 HG03225.hp2 NA18952.hp2 NA19043.hp2 NA19063.hp1 NA19089.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0015 a0001c0001t0037 a0001c0002t0012 a0001c0003t0023 a0003c0004t0013	a0001c0001t0001g0145 a0001c0001t0003g0058 a0001c0001t0004g0217 others(7): Show a0001c0001t0001g0145 a0001c0001t0003g0058 a0001c0001t0004g0217 a0001c0001t0010g0123 a0001c0001t0015g0368 a0001c0001t0037g0010 a0001c0002t0012g0160 a0001c0003t0023g0223 a0003c0004t0013g0073 a0003c0004t0013g0115	10	396	0.0253	35	c.52- others(52): Show c.52-15429_52-15428insAGTGTGTGTATATATATGTGTGTGTGTG TATATAT	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	2/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77081817	T T	TACACACA others(28): Show TACACACACACACATATATATACACACACTATACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	396	0.0025	35	c.52- others(52): Show c.52-15433_52-15432insGTGTATAGTGTGTGTATATATATGTGTG TGTGTGT	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	2/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77081817	T T	TACACACA others(28): Show TACACACACACACATATATATACACACACTATATAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp1 HG01358.hp1 others(18): Show HG00408.hp1 HG00673.hp1 HG01358.hp1 HG02717.hp1 HG02809.hp1 HG02895.hp1 NA18612.hp2 NA18747.hp2 NA18946.hp1 NA18961.hp1 NA18963.hp1 NA18967.hp2 NA18975.hp1 NA18990.hp2 NA19005.hp2 NA19030.hp1 NA19056.hp2 NA19060.hp1 NA19068.hp1 NA19081.hp1 NA19089.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0004 others(1): Show a0001c0001 a0001c0002 a0003c0004 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0041 a0001c0001t0054 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0003c0004t0013 a0004c0007t0001	a0001c0001t0001g0054 a0001c0001t0001g0170 a0001c0001t0002g0330 others(18): Show a0001c0001t0001g0054 a0001c0001t0001g0170 a0001c0001t0002g0330 a0001c0001t0003g0122 a0001c0001t0005g0264 a0001c0001t0008g0371 a0001c0001t0010g0021 a0001c0001t0011g0148 a0001c0001t0014g0284 a0001c0001t0015g0365 a0001c0001t0016g0372 a0001c0001t0041g0225 a0001c0001t0054g0391 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0002g0240 a0001c0002t0007g0363 a0001c0002t0007g0381 a0001c0002t0007g0382 a0003c0004t0013g0150 a0004c0007t0001g0153	21	396	0.0530	35	c.52- others(52): Show c.52-15433_52-15432insGTATATAGTGTGTGTATATATATGTGTG TGTGTGT	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	2/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77081819	T T	TATACACA others(28): Show TATACACACACACACATATATATACACACACTATAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA18981.hp2 NA20752.hp1 HG01257.hp2 NA18981.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0281 a0001c0001t0004g0035 a0001c0001t0004g0137 a0001c0001t0002g0281 a0001c0001t0004g0035 a0001c0001t0004g0137	3	396	0.0076	35	c.52- others(52): Show c.52-15435_52-15434insGTATAGTGTGTGTATATATATGTGTGTG TGTGTAT	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	2/8			chr18	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19090.hp2 NA19057.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0070 a0001c0001t0014 a0001c0001t0070	a0001c0001t0014g0213 a0001c0001t0070g0315 a0001c0001t0014g0213 a0001c0001t0070g0315	2	340	0.0059	35	c.41 others(46): Show c.4153_*4154insATATATATATATATATATATATATATTTTTTTTT T	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA19089.hp2 NA18994.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0020 a0001c0001t0014 a0001c0001t0020	a0001c0001t0014g0202 a0001c0001t0020g0263 a0001c0001t0014g0202 a0001c0001t0020g0263	2	340	0.0059	35	c.41 others(46): Show c.4153_*4154insATATATATATATATATATATATATATATTTTTTT T	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0047 a0001c0001t0096g0047	1	340	0.0029	35	c.41 others(46): Show c.4153_*4154insATATATATATATATATATATATATATATATATTT T	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(28): Show ATATATATATATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	428	0.0023	35	c.-25 others(46): Show c.-2544_-2543insAAAAAAAAAAAAAAATATATATATATATATATAT A	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MCF2L2_chr3_183173041_183433619	183361003	G G	GGAAGAAA others(28): Show GGAAGAAAGGAAAGGAAAGGAAAGACCAGATAAGAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0068 a0001c0001t0012g0068	1	176	0.0057	35	c.275 others(54): Show c.275+18293_275+18294insGTCTTATCTGGTCTTTCCTTTCCTTT CCTTTCTTC	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183361077	G G	GAAGAGAA others(28): Show GAAGAGAAGACAAGACAAGACAAGACAAGACAAGAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG00735.hp2 others(12): Show HG00558.hp1 HG00609.hp1 HG00735.hp2 HG00738.hp1 HG01515.hp2 HG01952.hp2 HG02015.hp1 HG02155.hp1 HG02698.hp1 HG02896.hp1 HG02970.hp2 HG03130.hp1 HG03831.hp2 NA18952.hp2 NA19088.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0012 a0022	a0001c0001 a0001c0016 a0002c0002 others(4): Show a0001c0001 a0001c0016 a0002c0002 a0003c0003 a0004c0004 a0012c0011 a0022c0024	a0001c0001t0001 a0001c0001t0002 a0001c0016t0025 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0016t0025 a0002c0002t0001 a0003c0003t0003 a0003c0003t0008 a0004c0004t0001 a0004c0004t0004 a0012c0011t0001 a0022c0024t0003	a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0078 others(12): Show a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0002g0090 a0001c0001t0002g0161 a0001c0016t0025g0166 a0002c0002t0001g0001 a0003c0003t0003g0083 a0003c0003t0003g0084 a0003c0003t0008g0024 a0004c0004t0001g0135 a0004c0004t0004g0052 a0012c0011t0001g0028 a0012c0011t0001g0088 a0022c0024t0003g0058	15	176	0.0852	35	c.275 others(54): Show c.275+18219_275+18220insGTCTTGTCTTGTCTTGTCTTGTCTTG TCTTCTCTT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29			chr3	TogoVar
MCF2L_chr13_112964214_113104742	113063483	T T	TCCCTGTC others(28): Show TCCCTGTCCACACAGCTGCCCACAGCGTTCAGGCGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0011 a0003c0009t0011	a0003c0009t0011g0101 a0003c0009t0011g0101	1	116	0.0086	35	c.490 others(50): Show c.490-805_490-771dupTGCCCACAGCGTTCAGGCGCCCCTGTCCAC ACAGC	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCM2_chr3_127593411_127627436	127615026	G G	GCACCCCA others(28): Show GCACCCCAAAACCAACCACAAAACAACCACACAAAC	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0174 a0001c0003t0001g0174	1	426	0.0024	35	c.142 others(52): Show c.1429-836_1429-835insCACCCCAAAACCAACCACAAAACAACCA CACAAAC	MCM2	ENSG00000073111.14	transcript	ENST00000265056.12	protein_coding	8/15			chr3	TogoVar
MCPH1_chr8_6401627_6653508	6505239	A A	AATATATA others(28): Show AATATATATATATATTCTTATGTATATATAGAATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG03225.hp1 HG01884.hp2 HG02451.hp1 HG03225.hp1	a0008 a0019 a0008 a0019	a0008c0047 a0008c0048 a0019c0056 a0008c0047 a0008c0048 a0019c0056	a0008c0047t0001 a0008c0048t0018 a0019c0056t0015 a0008c0047t0001 a0008c0048t0018 a0019c0056t0015	a0008c0047t0001g0256 a0008c0048t0018g0220 a0019c0056t0015g0222 a0008c0047t0001g0256 a0008c0048t0018g0220 a0019c0056t0015g0222	3	262	0.0115	35	c.221 others(54): Show c.2214+5318_2214+5319insATATATTCTTATGTATATATAGAATA TATATATAT	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MDGA1_chr6_37625679_37702883	37701163	A A	AAATATAT others(28): Show AAATATATATATATATATATGTGTGTGTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG03831.hp2 NA20752.hp2 HG00099.hp2 HG03831.hp2 NA20752.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0004 a0009c0025 a0001c0001 a0002c0004 a0009c0025	a0001c0001t0035 a0002c0004t0013 a0009c0025t0034 a0001c0001t0035 a0002c0004t0013 a0009c0025t0034	a0001c0001t0035g0043 a0002c0004t0013g0052 a0009c0025t0034g0060 a0001c0001t0035g0043 a0002c0004t0013g0052 a0009c0025t0034g0060	3	402	0.0075	35	c.-43 others(46): Show c.-4353_-4352insATATATATACACACACATATATATATATATATAT T	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		3281		chr6	TogoVar

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Search Results (Total: 4618 hits)