Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MCC_chr5_113017106_113493453	113046685	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0098 a0001c0004t0002g0098	1	160	0.0063	27	c.265 others(46): Show c.2655+2407_2655+2408insTTTTTTTTTTTTTTTTTTTTTTTTTT T	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	16/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113327561	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0005 a0005	a0005c0032 a0005c0032	a0005c0032t0046 a0005c0032t0046	a0005c0032t0046g0006 a0005c0032t0046g0006	1	160	0.0063	27	c.627 others(46): Show c.627+12957_627+12958insATATATATATATATATATATATATAT T	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113354802	A A	ATTATTAT others(20): Show ATTATTATTATTATTATTATTATTATTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01884.hp1 HG02572.hp2 others(6): Show HG00733.hp1 HG01884.hp1 HG02572.hp2 HG02818.hp1 HG03041.hp2 HG03453.hp2 HG04115.hp2 HG04199.hp1 homoSapiens_chm13v2.hp1	a0003 a0004 a0003 a0004	a0003c0005 a0003c0014 a0003c0015 others(4): Show a0003c0005 a0003c0014 a0003c0015 a0003c0020 a0003c0031 a0003c0040 a0004c0019	a0003c0005t0001 a0003c0005t0012 a0003c0014t0005 others(6): Show a0003c0005t0001 a0003c0005t0012 a0003c0014t0005 a0003c0015t0036 a0003c0020t0020 a0003c0031t0021 a0003c0040t0001 a0004c0019t0004 a0004c0019t0014	a0003c0005t0001g0019 a0003c0005t0012g0009 a0003c0014t0005g0026 others(6): Show a0003c0005t0001g0019 a0003c0005t0012g0009 a0003c0014t0005g0026 a0003c0015t0036g0018 a0003c0020t0020g0004 a0003c0031t0021g0003 a0003c0040t0001g0008 a0004c0019t0004g0112 a0004c0019t0014g0117	9	160	0.0563	27	c.416 others(46): Show c.416-14073_416-14072insCAATAATAATAATAATAATAATAATA A	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	2/18			chr5	TogoVar
MCEMP1_chr19_7672090_7684829	7674859	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02165.hp1 NA19077.hp2 HG02055.hp2 HG02165.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0009 a0001c0001t0002g0011 a0001c0001t0001g0009 a0001c0001t0002g0011	3	448	0.0067	27	c.-22 others(38): Show c.-2262_-2261insTTTTTTTTTTTTTTTTTTTTTTTTTTT	MCEMP1	ENSG00000183019.8	transcript	ENST00000333598.8	protein_coding		2230		chr19	TogoVar
MCF2L2_chr3_183173041_183433619	183269230	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0158 a0002c0002t0019g0158	1	176	0.0057	27	c.186 others(46): Show c.1862+7641_1862+7642insAAAAAAAAAAAAAAAAAAAAAAAAAA A	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	15/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183360986	A A	AAGAGAAG others(20): Show AAGAGAAGAGAAGAGAAGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18941.hp2 NA18969.hp1 HG04184.hp1 NA18941.hp2 NA18969.hp1	a0001 a0003 a0018 a0001 a0003 a0018	a0001c0001 a0003c0003 a0018c0019 a0001c0001 a0003c0003 a0018c0019	a0001c0001t0001 a0003c0003t0003 a0018c0019t0001 a0001c0001t0001 a0003c0003t0003 a0018c0019t0001	a0001c0001t0001g0018 a0003c0003t0003g0049 a0018c0019t0001g0032 a0001c0001t0001g0018 a0003c0003t0003g0049 a0018c0019t0001g0032	3	176	0.0171	27	c.275 others(46): Show c.275+18310_275+18311insCTTCTCTTCTCTTCTCTTCTCTTCTC T	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29			chr3	TogoVar
MCF2L_chr13_112964214_113104742	113025495	T T	TTGGGGCA others(20): Show TTGGGGCAGAGTCCCTGTGACTGTGAGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03098.hp1 NA18522.hp1 HG02486.hp2 HG03098.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0010 a0001c0001 a0001c0005 a0001c0010	a0001c0001t0007 a0001c0005t0025 a0001c0010t0021 a0001c0001t0007 a0001c0005t0025 a0001c0010t0021	a0001c0001t0007g0017 a0001c0005t0025g0016 a0001c0010t0021g0015 a0001c0001t0007g0017 a0001c0005t0025g0016 a0001c0010t0021g0015	3	116	0.0259	27	c.278 others(42): Show c.278+737_278+738insTGGGGCAGAGTCCCTGTGACTGTGAGA	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29			chr13	TogoVar
MCF2L_chr13_112964214_113104742	113040437	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	116	0.0086	27	c.279 others(44): Show c.279-4834_279-4833insGTGTGTGTGTGTGTGTGTGTGTGTGTG	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29			chr13	TogoVar
MCM2_chr3_127593411_127627436	127624266	T T	TTCCTCCT others(20): Show TTCCTCCTGTCTCCTTTGCCTGATTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	426	0.0024	27	c.24 others(38): Show c.2493_*2494insTCCTCCTGTCTCCTTTGCCTGATTCAA	MCM2	ENSG00000073111.14	transcript	ENST00000265056.12	protein_coding		1831		chr3	TogoVar
MCOLN2_chr1_84920583_85002113	84922462	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 NA18980.hp2 NA19070.hp2 HG02976.hp2 NA18980.hp2 NA19070.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0003 a0003c0003t0005 a0001c0001t0002 a0001c0001t0003 a0003c0003t0005	a0001c0001t0002g0255 a0001c0001t0003g0267 a0003c0003t0005g0030 a0001c0001t0002g0255 a0001c0001t0003g0267 a0003c0003t0005g0030	3	350	0.0086	27	c.42 others(38): Show c.4222_*4223insAAAAATATATATATATATATATATATA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3120		chr1	TogoVar
MCPH1_chr8_6401627_6653508	6505210	T T	TATATATA others(20): Show TATATATATATTCTTATGTATATATAGA	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19005.hp2 HG00621.hp1 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0002c0008t0005 a0001c0001t0001 a0002c0008t0005	a0001c0001t0001g0074 a0002c0008t0005g0107 a0001c0001t0001g0074 a0002c0008t0005g0107	2	262	0.0076	27	c.221 others(46): Show c.2214+5291_2214+5292insTCTTATGTATATATAGAATATATATA T	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCRIP2_chr16_636828_653474	637257	T T	TGCGGCAG others(20): Show TGCGGCAGGGGCGGCAGGGGCGGCAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG02258.hp2 HG03654.hp2 others(3): Show HG01433.hp2 HG02258.hp2 HG03654.hp2 HG03927.hp1 NA18959.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0052 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0002g0037 a0001c0001t0002g0038	6	420	0.0143	27	c.-47 others(38): Show c.-4735_-4734insGCGGCAGGGGCGGCAGGGGCGGCAGGG	MCRIP2	ENSG00000172366.20	transcript	ENST00000307650.9	protein_coding		4570		chr16	TogoVar
MCTP2_chr15_94226561_94488952	94267869	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02145.hp1 HG02165.hp1 others(5): Show HG00738.hp1 HG02145.hp1 HG02165.hp1 HG03579.hp1 NA18947.hp2 NA18977.hp2 NA19002.hp1 NA19080.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0001c0002 a0001c0015 others(3): Show a0001c0001 a0001c0002 a0001c0015 a0002c0003 a0002c0004 a0012c0026	a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0015t0001 a0002c0003t0028 a0002c0004t0010 a0012c0026t0002	a0001c0001t0003g0166 a0001c0002t0001g0017 a0001c0002t0001g0162 others(5): Show a0001c0001t0003g0166 a0001c0002t0001g0017 a0001c0002t0001g0162 a0001c0002t0002g0018 a0001c0015t0001g0165 a0002c0003t0028g0173 a0002c0004t0010g0094 a0012c0026t0002g0181	8	276	0.0290	27	c.-65 others(46): Show c.-65-30318_-65-30317insTTTTTTTTTTTTTTTTTTTTTTTTTT T	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94464257	T T	TATTATAT others(20): Show TATTATATATATATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0025 a0003c0025	a0003c0025t0020 a0003c0025t0020	a0003c0025t0020g0114 a0003c0025t0020g0114	1	276	0.0036	27	c.236 others(46): Show c.2360+6011_2360+6012insATTATATATATATATATATTATATAT A	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	20/22			chr15	TogoVar
MCTP2_chr15_94226561_94488952	94464371	G G	GATTTAAT others(20): Show GATTTAATGTTGTTTATAACATCCTCTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(196): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01928.hp2 HG01978.hp2 HG02015.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 NA18747.hp2 NA18906.hp1 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0013	a0001c0001 a0001c0002 a0001c0005 others(19): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0010 a0001c0013 a0001c0015 a0001c0017 a0002c0003 a0002c0004 a0002c0012 a0003c0009 a0003c0025 a0004c0008 a0005c0014 a0006c0011 a0007c0018 a0008c0029 a0010c0024 a0011c0021 a0012c0026 a0013c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(66): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0032 a0001c0001t0038 a0001c0001t0040 a0001c0001t0044 a0001c0001t0048 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0013 a0001c0002t0014 a0001c0002t0017 a0001c0002t0018 a0001c0002t0019 a0001c0002t0043 a0001c0002t0046 a0001c0002t0051 a0001c0002t0055 a0001c0005t0009 a0001c0005t0021 a0001c0006t0009 a0001c0010t0023 a0001c0010t0033 a0001c0013t0001 a0001c0013t0037 a0001c0015t0003 a0001c0017t0013 a0002c0003t0005 a0002c0003t0007 a0002c0003t0008 a0002c0003t0010 a0002c0003t0024 a0002c0003t0025 a0002c0003t0028 a0002c0003t0029 a0002c0004t0005 a0002c0004t0007 a0002c0004t0008 a0002c0004t0010 a0002c0012t0027 a0003c0009t0020 a0003c0009t0034 a0003c0025t0020 a0004c0008t0019 a0004c0008t0022 a0005c0014t0035 a0005c0014t0045 a0006c0011t0011 a0006c0011t0014 a0007c0018t0026 a0008c0029t0004 a0010c0024t0013 a0011c0021t0013 a0012c0026t0002 a0013c0023t0001	a0001c0001t0001g0049 a0001c0001t0001g0074 a0001c0001t0001g0086 others(196): Show a0001c0001t0001g0049 a0001c0001t0001g0074 a0001c0001t0001g0086 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0127 a0001c0001t0001g0147 a0001c0001t0001g0177 a0001c0001t0001g0189 a0001c0001t0001g0197 a0001c0001t0001g0211 a0001c0001t0001g0256 a0001c0001t0002g0001 a0001c0001t0002g0020 a0001c0001t0002g0031 a0001c0001t0002g0044 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0002g0130 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0158 a0001c0001t0002g0196 a0001c0001t0002g0202 a0001c0001t0002g0207 a0001c0001t0002g0232 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0003g0011 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0021 a0001c0001t0003g0046 a0001c0001t0003g0093 a0001c0001t0003g0106 a0001c0001t0003g0117 a0001c0001t0003g0126 a0001c0001t0003g0166 a0001c0001t0003g0228 a0001c0001t0003g0265 a0001c0001t0004g0010 a0001c0001t0004g0118 a0001c0001t0004g0124 a0001c0001t0004g0131 a0001c0001t0004g0186 a0001c0001t0004g0194 a0001c0001t0004g0199 a0001c0001t0006g0062 a0001c0001t0006g0066 a0001c0001t0006g0140 a0001c0001t0006g0188 a0001c0001t0006g0200 a0001c0001t0009g0030 a0001c0001t0011g0028 a0001c0001t0011g0050 a0001c0001t0011g0058 a0001c0001t0011g0171 a0001c0001t0012g0075 a0001c0001t0012g0100 a0001c0001t0012g0123 a0001c0001t0014g0076 a0001c0001t0018g0111 a0001c0001t0032g0081 a0001c0001t0038g0151 a0001c0001t0040g0008 a0001c0001t0044g0134 a0001c0001t0048g0255 a0001c0001t0053g0149 a0001c0001t0054g0159 a0001c0001t0056g0026 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0024 a0001c0002t0001g0039 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0068 a0001c0002t0001g0101 a0001c0002t0001g0112 a0001c0002t0001g0125 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0167 a0001c0002t0001g0175 a0001c0002t0001g0179 a0001c0002t0001g0225 a0001c0002t0001g0230 a0001c0002t0001g0235 a0001c0002t0001g0243 a0001c0002t0001g0246 a0001c0002t0001g0268 a0001c0002t0001g0275 a0001c0002t0002g0080 a0001c0002t0002g0085 a0001c0002t0002g0133 a0001c0002t0002g0142 a0001c0002t0002g0203 a0001c0002t0002g0205 a0001c0002t0002g0242 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0003g0064 a0001c0002t0003g0136 a0001c0002t0003g0143 a0001c0002t0003g0150 a0001c0002t0003g0164 a0001c0002t0003g0204 a0001c0002t0003g0218 a0001c0002t0003g0247 a0001c0002t0004g0119 a0001c0002t0004g0120 a0001c0002t0004g0135 a0001c0002t0004g0144 a0001c0002t0004g0157 a0001c0002t0004g0170 a0001c0002t0004g0195 a0001c0002t0004g0210 a0001c0002t0004g0213 a0001c0002t0004g0223 a0001c0002t0004g0227 a0001c0002t0006g0095 a0001c0002t0006g0156 a0001c0002t0006g0191 a0001c0002t0006g0253 a0001c0002t0013g0061 a0001c0002t0014g0129 a0001c0002t0017g0245 a0001c0002t0018g0098 a0001c0002t0019g0036 a0001c0002t0043g0198 a0001c0002t0046g0029 a0001c0002t0051g0272 a0001c0002t0055g0079 a0001c0005t0009g0248 a0001c0005t0021g0108 a0001c0005t0021g0214 a0001c0006t0009g0057 a0001c0010t0023g0266 a0001c0010t0023g0267 a0001c0010t0033g0152 a0001c0013t0001g0034 a0001c0013t0037g0224 a0001c0015t0003g0155 a0001c0017t0013g0023 a0002c0003t0005g0012 a0002c0003t0005g0040 a0002c0003t0005g0192 a0002c0003t0007g0027 a0002c0003t0007g0146 a0002c0003t0008g0009 a0002c0003t0008g0014 a0002c0003t0008g0038 a0002c0003t0008g0042 a0002c0003t0008g0082 a0002c0003t0008g0201 a0002c0003t0010g0259 a0002c0003t0024g0077 a0002c0003t0025g0078 a0002c0003t0028g0173 a0002c0003t0029g0139 a0002c0004t0005g0206 a0002c0004t0005g0208 a0002c0004t0005g0222 a0002c0004t0005g0229 a0002c0004t0005g0249 a0002c0004t0005g0251 a0002c0004t0005g0263 a0002c0004t0005g0271 a0002c0004t0007g0043 a0002c0004t0008g0041 a0002c0004t0008g0113 a0002c0004t0008g0185 a0002c0004t0008g0221 a0002c0004t0010g0056 a0002c0004t0010g0063 a0002c0004t0010g0094 a0002c0012t0027g0182 a0003c0009t0020g0128 a0003c0009t0034g0102 a0003c0025t0020g0114 a0004c0008t0019g0035 a0004c0008t0022g0053 a0004c0008t0022g0168 a0005c0014t0035g0122 a0005c0014t0045g0176 a0006c0011t0011g0274 a0006c0011t0014g0233 a0007c0018t0026g0033 a0008c0029t0004g0109 a0010c0024t0013g0115 a0011c0021t0013g0091 a0012c0026t0002g0181 a0013c0023t0001g0032	199	276	0.7210	27	c.236 others(46): Show c.2361-5952_2361-5926dupTGTTTATAACATCCTCTTATTTAATG T	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCU_chr10_72687143_72892694	72751341	C C	CTTCTTTT others(20): Show CTTCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	210	0.0048	27	c.150 others(46): Show c.150+59042_150+59043insCTTTTTTTTTTTTTTTTTTTTTTTTT T	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MDM4_chr1_204511406_204563120	204529441	C C	CTGTACCA others(20): Show CTGTACCATCATTTGGTCCTCCTGGAGT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	372	0.0027	27	c.154 others(44): Show c.154-1241_154-1215dupGTACCATCATTTGGTCCTCCTGGAGTT	MDM4	ENSG00000198625.14	transcript	ENST00000367182.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
MDN1_chr6_89637498_89824794	89670170	A A	ATATATAT others(20): Show ATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01175.hp2 NA18948.hp1 others(1): Show HG01070.hp2 HG01175.hp2 NA18948.hp1 NA19066.hp2	a0001 a0036 a0001 a0036	a0001c0001 a0036c0051 a0001c0001 a0036c0051	a0001c0001t0001 a0036c0051t0001 a0001c0001t0001 a0036c0051t0001	a0001c0001t0001g0195 a0001c0001t0001g0240 a0001c0001t0001g0271 others(1): Show a0001c0001t0001g0195 a0001c0001t0001g0240 a0001c0001t0001g0271 a0036c0051t0001g0207	4	290	0.0138	27	c.139 others(46): Show c.13956+748_13956+749insAAAAAAAAAAAAAAATATATATATAT A	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
ME1_chr6_83205402_83436051	83237274	A A	AGAAAGAA others(20): Show AGAAAGAAAGAGAAAGAAAGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00673.hp2 others(18): Show HG00099.hp1 HG00280.hp1 HG00673.hp2 HG01099.hp2 HG01106.hp2 HG01192.hp2 HG01243.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG02723.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG03130.hp1 HG03669.hp2 HG03831.hp1 NA18970.hp2 NA19043.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0065 others(18): Show a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0083 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0150 a0001c0001t0001g0176 a0001c0001t0001g0198 a0001c0001t0002g0025 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0055 a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0003g0238 a0001c0001t0003g0239	21	272	0.0772	27	c.102 others(44): Show c.1026+442_1026+443insCTTCCTTTCTTTCTTTCTCTTTCTTTC	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	9/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83237274	A A	AGAAAGAG others(20): Show AGAAAGAGAAAGAAAGAAAGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0208 a0001c0003t0004g0208	1	272	0.0037	27	c.102 others(44): Show c.1026+442_1026+443insCTTCCTTTCTTTCTTTCTTTCTCTTTC	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	9/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83277901	A A	AAATAATA others(20): Show AAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02723.hp1 HG03579.hp2 others(2): Show HG02074.hp1 HG02723.hp1 HG03579.hp2 NA18946.hp2 NA19075.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0002t0004 a0002c0004t0005 a0001c0001t0001 a0001c0002t0004 a0002c0004t0005	a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0002t0004g0183 others(2): Show a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0002t0004g0183 a0002c0004t0005g0224 a0002c0004t0005g0226	5	272	0.0184	27	c.705 others(46): Show c.705-24190_705-24164dupATTATTATTATTATTATTATTATTAT T	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83283227	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01175.hp2 HG01358.hp2 HG01123.hp2 HG01175.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0073 a0001c0001t0002g0014 a0001c0001t0006g0237 a0001c0001t0001g0073 a0001c0001t0002g0014 a0001c0001t0006g0237	3	272	0.0110	27	c.705 others(46): Show c.705-29490_705-29489insTTTTTTTTTTTTTTTTTTTTTTTTTT T	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(20): Show CTCTCTCTCTCTATATATATATAATATA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	272	0.0037	27	c.363 others(44): Show c.363-5797_363-5796insTATATTATATATATATAGAGAGAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83376804	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0016 a0001c0003t0004g0016	1	272	0.0037	27	c.362 others(46): Show c.362+21562_362+21563insTTTTTTTTTTTTTTTTTTTTTTTTTT T	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME2_chr18_50874118_50959257	50893124	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0185 a0001c0001t0038g0185	1	342	0.0029	27	c.-12 others(44): Show c.-12-2683_-12-2657dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	ME2	ENSG00000082212.13	transcript	ENST00000321341.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
ME2_chr18_50874118_50959257	50941353	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0170 a0001c0001t0170	a0001c0001t0170g0193 a0001c0001t0170g0193	1	342	0.0029	27	c.158 others(44): Show c.1587+972_1587+998dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	ME2	ENSG00000082212.13	transcript	ENST00000321341.11	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
MED12L_chr3_151080664_151441653	151141181	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTTTTTTTTGTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03195.hp1 HG02886.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0027 a0001c0012t0001 a0001c0002t0027 a0001c0012t0001	a0001c0002t0027g0178 a0001c0012t0001g0162 a0001c0002t0027g0178 a0001c0012t0001g0162	2	280	0.0071	27	c.556 others(46): Show c.556+13202_556+13203insTTTTTTTTTTTTTGTTTTTTTGTTTT T	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151151031	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0010 a0001c0009t0010	a0001c0009t0010g0238 a0001c0009t0010g0238	1	280	0.0036	27	c.557 others(44): Show c.557-5107_557-5106insTTTTTTTTTTTTTTTTTTTTTTTTTTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED13L_chr12_115953576_116282693	116096354	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02630.hp2 NA19084.hp2 HG00408.hp1 HG02630.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0070 a0001c0001t0001g0208 a0001c0001t0001g0212	3	254	0.0118	27	c.479 others(42): Show c.479+288_479+314dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116277905	T T	TGCGGGCG others(20): Show TGCGGGCGGCCGGGCTCCCCGGCGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	254	0.0039	27	c.-77 others(36): Show c.-775_-774insCGCCCGCCGGGGAGCCCGGCCGCCCGC	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding		213		chr12	TogoVar
MED13_chr17_61937605_62070278	61981441	T T	TCTAAATG others(20): Show TCTAAATGATGCTGGTGAATGGCTACCC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03130.hp2 HG02976.hp2 HG03130.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0001 a0003c0010t0001 a0001c0001t0001 a0003c0010t0001	a0001c0001t0001g0082 a0003c0010t0001g0007 a0001c0001t0001g0082 a0003c0010t0001g0007	2	326	0.0061	27	c.380 others(44): Show c.3805+756_3805+757insGGGTAGCCATTCACCAGCATCATTTAG	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	16/29			chr17	TogoVar
MED13_chr17_61937605_62070278	62015925	T T	TACACACA others(20): Show TACACACACACACATACACACTATACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03540.hp2 NA19240.hp1 HG02257.hp1 HG03540.hp2 NA19240.hp1	a0001 a0006 a0001 a0006	a0001c0007 a0006c0022 a0001c0007 a0006c0022	a0001c0007t0005 a0006c0022t0005 a0001c0007t0005 a0006c0022t0005	a0001c0007t0005g0010 a0001c0007t0005g0012 a0006c0022t0005g0011 a0001c0007t0005g0010 a0001c0007t0005g0012 a0006c0022t0005g0011	3	326	0.0092	27	c.128 others(46): Show c.1284-4693_1284-4692insGTGTATAGTGTGTATGTGTGTGTGTG T	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	8/29			chr17	TogoVar
MED13_chr17_61937605_62070278	62049078	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19043.hp2 HG03130.hp2 NA19043.hp2	a0003 a0009 a0003 a0009	a0003c0010 a0009c0014 a0003c0010 a0009c0014	a0003c0010t0001 a0009c0014t0001 a0003c0010t0001 a0009c0014t0001	a0003c0010t0001g0007 a0009c0014t0001g0192 a0003c0010t0001g0007 a0009c0014t0001g0192	2	326	0.0061	27	c.470 others(44): Show c.470+3458_470+3459insTTTTTTTTTTTTTTTTTTTTTTTTTTT	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	3/29			chr17	TogoVar
MED17_chr11_93779282_93819963	93813133	A A	AGGATAGA others(20): Show AGGATAGATTTAGGCTCATAAGCCTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0133 a0001c0001t0017g0133	1	320	0.0031	27	c.10 others(38): Show c.1072_*1098dupATAGATTTAGGCTCATAAGCCTTTTGG	MED17	ENSG00000042429.12	transcript	ENST00000251871.9	protein_coding	12/12	1099	INFO_REALIGN_3_PRIME	chr11	TogoVar
MED18_chr1_28324040_28340965	28327296	C C	CCTGTCTC others(20): Show CCTGTCTCACCCACACTGCTCTGTGTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	364	0.0028	27	c.-19 others(38): Show c.-1951_-1950insCTGTCTCACCCACACTGCTCTGTGTTT	MED18	ENSG00000130772.14	transcript	ENST00000373842.9	protein_coding		1743		chr1	TogoVar
MED27_chr9_131855112_132084867	131966383	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01981.hp2 HG02055.hp2 others(2): Show HG01346.hp1 HG01981.hp2 HG02055.hp2 NA18950.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0103 others(2): Show a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0103 a0001c0001t0002g0077 a0001c0001t0002g0244	5	274	0.0183	27	c.480 others(46): Show c.480-26910_480-26909insTTTTTTTTTTTTTTTTTTTTTTTTTT T	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MED28_chr4_17609641_17639105	17613882	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0003 a0001c0001t0017g0003	1	328	0.0031	27	c.-77 others(36): Show c.-773_-772insAAAAAAAAAAAAAAAAAAAAAAAAAAA	MED28	ENSG00000118579.13	transcript	ENST00000237380.12	protein_coding		758		chr4	TogoVar
MED30_chr8_117515713_117545262	117540699	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	348	0.0029	27	c.72 others(36): Show c.721_*722insTTTTTTTTTTTTTTTTTTTTTTTTTTT	MED30	ENSG00000164758.7	transcript	ENST00000297347.7	protein_coding		438		chr8	TogoVar
MED4_chr13_48070724_48100104	48084265	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0108 a0001c0001t0006g0108	1	408	0.0025	27	c.364 others(42): Show c.364-838_364-837insTTTTTTTTTTTTTTTTTTTTTTTTTTT	MED4	ENSG00000136146.15	transcript	ENST00000258648.7	protein_coding	3/6			chr13	TogoVar
MEF2A_chr15_99560984_99721488	99603543	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0001 a0009c0021t0001	a0009c0021t0001g0122 a0009c0021t0001g0122	1	376	0.0027	27	c.-14 others(46): Show c.-143+5032_-143+5033insGTGTGTGTGTGTGTGTGTGTGTGTGT G	MEF2A	ENSG00000068305.19	transcript	ENST00000557942.6	protein_coding	2/11			chr15	TogoVar
MEF2B_chr19_19140567_19175263	19174385	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0008 a0002c0004t0001g0122 a0002c0004t0001g0123 a0002c0004t0001g0008 a0002c0004t0001g0122 a0002c0004t0001g0123	3	404	0.0074	27	c.-42 others(38): Show c.-4211_-4210insAAAAAAAAAAAAAAAAAAAAAAAAAAA	MEF2B	ENSG00000213999.17	transcript	ENST00000424583.7	protein_coding		4123		chr19	TogoVar
MEF2C_chr5_88712117_88888184	88806739	A A	AAAAATAT others(20): Show AAAAATATGCAAAATATATTTTGTATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03225.hp1 HG03225.hp2 others(1): Show HG01891.hp2 HG03225.hp1 HG03225.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 a0001c0001t0024	a0001c0001t0002g0191 a0001c0001t0004g0002 a0001c0001t0019g0067 others(1): Show a0001c0001t0002g0191 a0001c0001t0004g0002 a0001c0001t0019g0067 a0001c0001t0024g0066	4	302	0.0133	27	c.55- others(42): Show c.55-1965_55-1939dupATATACAAAATATATTTTGCATATTTT	MEF2C	ENSG00000081189.17	transcript	ENST00000504921.7	protein_coding	2/10			chr5	TogoVar
MEGF11_chr15_65890299_66258750	65955761	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	176	0.0057	27	c.128 others(46): Show c.1287+1785_1287+1786insATATATATATATATATTTTTTTTTTT T	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	10/25			chr15	TogoVar
MEI4_chr6_77648039_77932045	77680115	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03098.hp2 NA19064.hp1 others(2): Show HG02809.hp2 HG03098.hp2 NA19064.hp1 NA19085.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0005 a0001c0001t0006 a0002c0002t0005	a0001c0001t0006g0038 a0001c0001t0006g0222 a0001c0001t0006g0223 others(2): Show a0001c0001t0006g0038 a0001c0001t0006g0222 a0001c0001t0006g0223 a0002c0002t0005g0103 a0002c0002t0005g0120	5	360	0.0139	27	c.-14 others(46): Show c.-14-10529_-14-10528insAAAAAAAAAAAAAAAAAAAAAAAAAA A	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MEI4_chr6_77648039_77932045	77841333	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0054 a0001c0001t0007g0054	1	360	0.0028	27	c.900 others(46): Show c.900+12272_900+12273insATATATATATATATATATATATATAT T	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MEI4_chr6_77648039_77932045	77841333	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03453.hp1 HG03516.hp1 HG03130.hp1 HG03453.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0036 a0001c0001t0007g0040 a0001c0001t0007g0052 a0001c0001t0007g0036 a0001c0001t0007g0040 a0001c0001t0007g0052	3	360	0.0083	27	c.900 others(46): Show c.900+12272_900+12273insATATATATATATATATATTTTTTTTT T	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MEIKIN_chr5_131801990_131950663	131849356	G G	GAACCTCT others(20): Show GAACCTCTTTTCTTTATATATATAAAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00544.hp1 others(93): Show HG00140.hp1 HG00408.hp1 HG00544.hp1 HG00609.hp2 HG00639.hp2 HG00733.hp2 HG00741.hp1 HG01070.hp2 HG01081.hp2 HG01109.hp1 HG01243.hp1 HG01256.hp1 HG01261.hp2 HG01433.hp2 HG01516.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02451.hp1 HG02523.hp2 HG02602.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG03239.hp2 HG03471.hp1 HG03491.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03927.hp1 HG04115.hp1 HG04199.hp2 HG06807.hp1 NA18939.hp2 NA18941.hp1 NA18944.hp1 NA18946.hp1 NA18948.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18984.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19005.hp2 NA19006.hp1 NA19010.hp2 NA19055.hp2 NA19056.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp2 NA19089.hp1 NA20300.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 a0001c0007t0001 a0002c0005t0001	a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0041 others(93): Show a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0228 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0246 a0001c0002t0001g0251 a0001c0002t0001g0315 a0001c0004t0002g0193 a0001c0007t0001g0201 a0002c0005t0001g0164	96	346	0.2775	27	c.975 others(44): Show c.975+1881_975+1907dupTCTTTATATATATAAAGAAAAGAGGTT	MEIKIN	ENSG00000239642.6	transcript	ENST00000442687.6	protein_coding	11/12			chr5	TogoVar
MEIOB_chr16_1828986_1877164	1830944	A A	ACACACAC others(20): Show ACACACACACACACACACCCCACCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00642.hp2 HG01099.hp2 others(1): Show HG00438.hp2 HG00642.hp2 HG01099.hp2 HG01975.hp1	a0003 a0004 a0006 a0003 a0004 a0006	a0003c0003 a0004c0004 a0006c0008 a0003c0003 a0004c0004 a0006c0008	a0003c0003t0001 a0004c0004t0001 a0006c0008t0001 a0003c0003t0001 a0004c0004t0001 a0006c0008t0001	a0003c0003t0001g0191 a0004c0004t0001g0170 a0006c0008t0001g0171 others(1): Show a0003c0003t0001g0191 a0004c0004t0001g0170 a0006c0008t0001g0171 a0006c0008t0001g0172	4	380	0.0105	27	c.33 others(38): Show c.3311_*3312insGGTGGGTGGGGTGTGTGTGTGTGTGTG	MEIOB	ENSG00000162039.18	transcript	ENST00000325962.9	protein_coding		3041		chr16	TogoVar
MEIOB_chr16_1828986_1877164	1830944	A A	ACACACAC others(20): Show ACACACACACACACACACCCCACTCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0196 a0003c0003t0001g0196	1	380	0.0026	27	c.33 others(38): Show c.3311_*3312insGGTGAGTGGGGTGTGTGTGTGTGTGTG	MEIOB	ENSG00000162039.18	transcript	ENST00000325962.9	protein_coding		3041		chr16	TogoVar
MEIOB_chr16_1828986_1877164	1842623	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03490.hp1 HG03492.hp2 others(1): Show HG01884.hp2 HG03490.hp1 HG03492.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0030 a0002c0002t0001g0052 others(1): Show a0002c0002t0001g0020 a0002c0002t0001g0030 a0002c0002t0001g0052 a0002c0002t0001g0055	4	380	0.0105	27	c.881 others(42): Show c.881-651_881-650insTTTTTTTTTTTTTTTTTTTTTTTTTTT	MEIOB	ENSG00000162039.18	transcript	ENST00000325962.9	protein_coding	10/13			chr16	TogoVar

Search by Variant

Search

Search Results (Total: 7463 hits)