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
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(30): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0027 a0001c0001t0010g0027	1	334	0.0030	37	c.160 others(56): Show c.160-35376_160-35375insATATATATATATATATATATTTTTTT TTTTTTTTTTT	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(30): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0025 a0001c0001t0006g0025	1	334	0.0030	37	c.160 others(56): Show c.160-35376_160-35375insATATATATATATATATATTTTTTTTT TTTTTTTTTTT	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K5_chr6_136552046_136797477	136585469	T T	TTTTCTTT others(30): Show TTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01978.hp1 NA19007.hp2 HG01433.hp1 HG01978.hp1 NA19007.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0011 a0001c0007t0002g0028 a0001c0007t0002g0038 a0001c0007t0002g0011 a0001c0007t0002g0028 a0001c0007t0002g0038	3	162	0.0185	37	c.322 others(56): Show c.3226-1730_3226-1729insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAAGAAA	MAP3K5	ENSG00000197442.11	transcript	ENST00000359015.5	protein_coding	23/29			chr6	TogoVar
MAP3K5_chr6_136552046_136797477	136792534	T T	TCGCCACC others(30): Show TCGCCACCCGCCGCGCCGCGCCGCGCCGCGCCGCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19086.hp1 NA19062.hp2 NA19086.hp1	a0001 a0001	a0001c0009 a0001c0013 a0001c0009 a0001c0013	a0001c0009t0001 a0001c0013t0001 a0001c0009t0001 a0001c0013t0001	a0001c0009t0001g0073 a0001c0013t0001g0072 a0001c0009t0001g0073 a0001c0013t0001g0072	2	162	0.0124	37	c.-37 others(46): Show c.-378_-377insCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGGGTGGC G	MAP3K5	ENSG00000197442.11	transcript	ENST00000359015.5	protein_coding		58		chr6	TogoVar
MAP3K8_chr10_30429184_30466833	30432976	G G	GAGAGAGA others(30): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01081.hp1 HG02273.hp2 others(4): Show HG00323.hp1 HG01081.hp1 HG02273.hp2 HG02293.hp1 NA18974.hp2 NA18999.hp1 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0001 a0001c0009t0001 a0001c0002t0001 a0001c0009t0001	a0001c0002t0001g0007 a0001c0002t0001g0146 a0001c0002t0001g0162 others(4): Show a0001c0002t0001g0007 a0001c0002t0001g0146 a0001c0002t0001g0162 a0001c0002t0001g0167 a0001c0002t0001g0176 a0001c0002t0001g0185 a0001c0009t0001g0007	7	386	0.0181	37	c.-16 others(48): Show c.-1657_-1656insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGA	MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding		1207		chr10	TogoVar
MAP3K8_chr10_30429184_30466833	30432978	G G	GAGAGAGA others(30): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0173 a0001c0002t0001g0173	1	386	0.0026	37	c.-16 others(48): Show c.-1655_-1654insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGA	MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding		1205		chr10	TogoVar
MAPK10_chr4_86005405_86365053	86364034	G G	GGCCTCCC others(30): Show GGCCTCCCAAAGTTCTGGGATTACAGACAGGTATGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0051 a0001c0001t0069g0051	1	170	0.0059	37	c.-45 others(48): Show c.-4535_-4499dupGCTCATACCTGTCTGTAATCCCAGAACTTTGGGA GGC	MAPK10	ENSG00000109339.24	transcript	ENST00000641462.2	protein_coding		3982		chr4	TogoVar
MAPKAP1_chr9_125432394_125712208	125459854	G G	GGAAAGAG others(30): Show GGAAAGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp2 others(66): Show HG00099.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG01070.hp2 HG01081.hp2 HG01109.hp1 HG01168.hp1 HG01192.hp1 HG01358.hp2 HG01433.hp2 HG01943.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02083.hp2 HG02129.hp2 HG02165.hp2 HG02280.hp1 HG02559.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG03098.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18944.hp2 NA18950.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18967.hp1 NA18974.hp2 NA18980.hp2 NA18990.hp1 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19004.hp2 NA19010.hp2 NA19030.hp1 NA19057.hp2 NA19062.hp2 NA19077.hp2 NA19080.hp2 NA19082.hp1 NA19091.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0003t0003	a0001c0001t0001g0141 a0001c0001t0001g0192 a0001c0001t0002g0027 others(66): Show a0001c0001t0001g0141 a0001c0001t0001g0192 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0234 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0265 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0077 a0001c0001t0003g0083 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0053 a0001c0001t0005g0056 a0001c0001t0005g0060 a0001c0001t0005g0225 a0001c0001t0007g0259 a0001c0001t0007g0262 a0001c0001t0007g0263 a0001c0001t0007g0264 a0001c0001t0007g0266 a0001c0001t0007g0299 a0001c0003t0003g0196 a0001c0003t0003g0209	69	300	0.2300	37	c.134 others(56): Show c.1345+8117_1345+8118insTCTCCCTCTCCCCACGGTCTCCCTCT CCCTCTCTTTC	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	10/11			chr9	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0011 a0003c0004t0011	a0003c0004t0011g0069 a0003c0004t0011g0069	1	328	0.0031	37	c.114 others(56): Show c.114+11389_114+11390insAAAAATATATATATATATATATATAT ATATATATATA	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPT_chr17_45889554_46033334	45904330	T T	TTATATTA others(30): Show TTATATTATATATATATTATATATATTATATATATTAA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0220 a0002c0002t0001g0220	1	253	0.0040	37	c.-18 others(54): Show c.-18+9644_-18+9645insTATATTATATATATATTATATATATTAT ATATATTAA	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12			chr17	TogoVar
MAPT_chr17_45889554_46033334	45904338	A A	ATATATAT others(30): Show ATATATATATTATATATATTATATATATTAATATATTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0061 a0002c0003t0001g0061	1	253	0.0040	37	c.-18 others(54): Show c.-18+9682_-18+9683insTATATTTTATATATATTATATATATTAT ATATATTAA	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAPT_chr17_45889554_46033334	45915480	T T	TTGTGATA others(30): Show TTGTGATATGTGTGTGGTGTGTGAGCATGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01074.hp1 others(18): Show HG00140.hp1 HG00280.hp1 HG01074.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp2 HG01255.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01952.hp2 HG02109.hp1 HG02257.hp1 HG02602.hp1 HG02735.hp2 HG02738.hp1 HG03239.hp1 HG03704.hp1 HG04199.hp2 NA19085.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0011 a0003c0004t0015 others(1): Show a0003c0004t0004 a0003c0004t0011 a0003c0004t0015 a0003c0004t0016	a0003c0004t0004g0001 a0003c0004t0004g0003 a0003c0004t0004g0004 others(18): Show a0003c0004t0004g0001 a0003c0004t0004g0003 a0003c0004t0004g0004 a0003c0004t0004g0005 a0003c0004t0004g0006 a0003c0004t0004g0008 a0003c0004t0004g0009 a0003c0004t0004g0010 a0003c0004t0004g0011 a0003c0004t0004g0012 a0003c0004t0004g0013 a0003c0004t0004g0016 a0003c0004t0004g0017 a0003c0004t0004g0018 a0003c0004t0004g0019 a0003c0004t0004g0020 a0003c0004t0004g0021 a0003c0004t0011g0002 a0003c0004t0011g0015 a0003c0004t0015g0014 a0003c0004t0016g0007	21	253	0.0830	37	c.-18 others(56): Show c.-18+20799_-18+20835dupATATGTGTGTGGTGTGTGAGCATGTG TGTGTGATGTG	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAPT_chr17_45889554_46033334	45987361	T T	TGACAGTA others(30): Show TGACAGTAAATGAAGGTGTGTTTGAAAACCAACCCCAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01074.hp1 others(18): Show HG00140.hp1 HG00280.hp1 HG01074.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp2 HG01255.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01952.hp2 HG02109.hp1 HG02257.hp1 HG02602.hp1 HG02735.hp2 HG02738.hp1 HG03239.hp1 HG03704.hp1 HG04199.hp2 NA19085.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0011 a0003c0004t0015 others(1): Show a0003c0004t0004 a0003c0004t0011 a0003c0004t0015 a0003c0004t0016	a0003c0004t0004g0001 a0003c0004t0004g0003 a0003c0004t0004g0004 others(18): Show a0003c0004t0004g0001 a0003c0004t0004g0003 a0003c0004t0004g0004 a0003c0004t0004g0005 a0003c0004t0004g0006 a0003c0004t0004g0008 a0003c0004t0004g0009 a0003c0004t0004g0010 a0003c0004t0004g0011 a0003c0004t0004g0012 a0003c0004t0004g0013 a0003c0004t0004g0016 a0003c0004t0004g0017 a0003c0004t0004g0018 a0003c0004t0004g0019 a0003c0004t0004g0020 a0003c0004t0004g0021 a0003c0004t0011g0002 a0003c0004t0011g0015 a0003c0004t0015g0014 a0003c0004t0016g0007	21	253	0.0830	37	c.140 others(54): Show c.1407+297_1407+298insCCCCAGGACAGTAAATGAAGGTGTGTTT GAAAACCAA	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MARCHF1_chr4_163519718_164389019	163916424	G G	GAGGAGAC others(30): Show GAGGAGACAGCAGGTGCACAGGTGTGAGAGGGTCTGAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp1 HG00741.hp1 others(46): Show HG00438.hp1 HG00639.hp1 HG00741.hp1 HG01071.hp2 HG01261.hp2 HG01884.hp2 HG02055.hp2 HG02080.hp1 HG02132.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02615.hp1 HG02615.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02897.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18952.hp1 NA18952.hp2 NA18963.hp1 NA18969.hp1 NA18984.hp1 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19058.hp1 NA19066.hp2 NA19088.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0008 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(20): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0026 a0001c0002t0002 a0001c0002t0003 a0001c0002t0011 a0001c0002t0028 a0001c0005t0016 a0001c0006t0001 a0001c0008t0012 a0002c0003t0001 a0002c0003t0008 a0002c0004t0003	a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0036 others(46): Show a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0064 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0004g0052 a0001c0001t0004g0057 a0001c0001t0005g0029 a0001c0001t0005g0037 a0001c0001t0005g0074 a0001c0001t0006g0008 a0001c0001t0006g0059 a0001c0001t0006g0072 a0001c0001t0009g0034 a0001c0001t0009g0088 a0001c0001t0010g0063 a0001c0001t0013g0015 a0001c0001t0013g0018 a0001c0001t0014g0066 a0001c0001t0017g0039 a0001c0001t0019g0067 a0001c0001t0021g0028 a0001c0001t0024g0025 a0001c0001t0026g0032 a0001c0002t0002g0011 a0001c0002t0002g0023 a0001c0002t0002g0054 a0001c0002t0002g0062 a0001c0002t0002g0080 a0001c0002t0002g0092 a0001c0002t0002g0094 a0001c0002t0003g0004 a0001c0002t0003g0016 a0001c0002t0003g0082 a0001c0002t0003g0096 a0001c0002t0011g0013 a0001c0002t0028g0099 a0001c0005t0016g0048 a0001c0006t0001g0041 a0001c0008t0012g0026 a0002c0003t0001g0005 a0002c0003t0008g0014 a0002c0004t0003g0077 a0002c0004t0003g0086	49	102	0.4804	37	c.-38 others(56): Show c.-38-62256_-38-62255insGTCAGACCCTCTCACACCTGTGCACC TGCTGTCTCCT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MARCHF3_chr5_126862714_127035558	126866880	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0222 a0001c0001t0017g0222	1	296	0.0034	37	c.37 others(48): Show c.3752_*3753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding		833		chr5	TogoVar
MARK3_chr14_103380415_103508831	103467674	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18948.hp2 HG01243.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0044 a0001c0001t0003g0029 a0001c0001t0001g0044 a0001c0001t0003g0029	2	348	0.0058	37	c.111 others(54): Show c.1111-336_1111-335insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MASTL_chr10_27150352_27192953	27173305	C C	CATTATCT others(30): Show CATTATCTTTCAAGGTTAAATTTTAAAAAATTTCTTCA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0166 a0001c0001t0011g0166	1	398	0.0025	37	c.226 others(52): Show c.2266+47_2266+83dupATTATCTTTCAAGGTTAAATTTTAAAAAAT TTCTTCA	MASTL	ENSG00000120539.15	transcript	ENST00000375940.9	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
MATN4_chr20_45288450_45313299	45305805	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp2 HG03453.hp2 others(3): Show HG02109.hp2 HG02572.hp2 HG03453.hp2 HG03516.hp1 NA19072.hp2 NA19240.hp1	a0003 a0004 a0013 a0003 a0004 a0013	a0003c0002 a0004c0005 a0013c0018 a0003c0002 a0004c0005 a0013c0018	a0003c0002t0001 a0004c0005t0002 a0013c0018t0001 a0003c0002t0001 a0004c0005t0002 a0013c0018t0001	a0003c0002t0001g0211 a0003c0002t0001g0212 a0004c0005t0002g0031 others(1): Show a0003c0002t0001g0211 a0003c0002t0001g0212 a0004c0005t0002g0031 a0013c0018t0001g0210	6	422	0.0142	37	c.-34 others(52): Show c.-34-190_-34-189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	MATN4	ENSG00000124159.17	transcript	ENST00000372756.6	protein_coding	1/9			chr20	TogoVar
MBD3L3_chr19_7051207_7063676	7062477	A A	AATTATAC others(30): Show AATTATACATTATAATATAATTAAATATATTTAATTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 NA18966.hp1 HG02040.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	288	0.0069	37	c.-39 others(48): Show c.-3909_-3873dupATAATTAAATATATTTAATTATATTATAATGTAT AAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3802		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7034599	A A	ATATGTTA others(30): Show ATATGTTATATAATTATATTTTATATTATAATATAATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0002 a0010c0016t0002	a0010c0016t0002g0026 a0010c0016t0002g0026	1	262	0.0038	37	c.32 others(48): Show c.3261_*3262insCATTATATTATAATATAAAATATAATTATATAAC ATA	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		3149		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035713	T T	TATATAAT others(30): Show TATATAATTATATTATATATATAATATAATTATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0005 a0004c0004t0001g0005	1	249	0.0040	37	c.28 others(48): Show c.2819_*2820insATATAATTATATTATATATATAATATAATTATAT AAC	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2703		chr19	TogoVar
MBIP_chr14_36293564_36325637	36294279	T T	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0015 a0002c0002t0006g0015	1	312	0.0032	37	c.48 others(48): Show c.4803_*4804insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	MBIP	ENSG00000151332.20	transcript	ENST00000416007.9	protein_coding		4284		chr14	TogoVar
MBNL2_chr13_97217333_97399120	97291900	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02630.hp1 HG04228.hp2 HG01928.hp1 HG02630.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0104 a0001c0001t0001g0225 a0001c0002t0001g0008 a0001c0001t0001g0104 a0001c0001t0001g0225 a0001c0002t0001g0008	3	254	0.0118	37	c.174 others(56): Show c.174+15508_174+15509insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBOAT7_chr19_54168415_54194580	54172168	C C	CCCTCCTC others(30): Show CCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 NA21309.hp2 HG02523.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0235 a0001c0001t0002g0147 a0001c0001t0002g0235	2	373	0.0054	37	c.18 others(48): Show c.1839_*1875dupAGCCGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AGG	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding		1246		chr19	TogoVar
MBP_chr18_76973833_77137783	76975181	T T	TTTTCTTT others(30): Show TTTTCTTTTCTTTTCTTCTTTTCTTTTCTTTTCTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02717.hp1 HG02886.hp2 others(3): Show HG02055.hp1 HG02717.hp1 HG02886.hp2 HG02970.hp2 HG03453.hp1 HG03540.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0004 a0005c0008 a0001c0001 a0003c0004 a0005c0008	a0001c0001t0011 a0001c0001t0042 a0003c0004t0011 others(1): Show a0001c0001t0011 a0001c0001t0042 a0003c0004t0011 a0005c0008t0011	a0001c0001t0011g0148 a0001c0001t0011g0163 a0001c0001t0011g0213 others(3): Show a0001c0001t0011g0148 a0001c0001t0011g0163 a0001c0001t0011g0213 a0001c0001t0042g0220 a0003c0004t0011g0134 a0005c0008t0011g0011	6	396	0.0152	37	c.52 others(48): Show c.5245_*5246insGAAAAGAAAAGAAAAGAAAAGAAGAAAAGAAAAG AAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding		3651		chr18	TogoVar
MBP_chr18_76973833_77137783	77081819	T T	TATACACA others(30): Show TATACACACACACACATATATATACACACACTATACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00639.hp1 others(36): Show HG00280.hp2 HG00323.hp2 HG00639.hp1 HG00741.hp2 HG01099.hp1 HG01109.hp1 HG01981.hp1 HG02056.hp1 HG02273.hp1 HG03239.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 NA18940.hp2 NA18943.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18972.hp1 NA18973.hp2 NA18992.hp1 NA18992.hp2 NA18997.hp1 NA18999.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19081.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0019 a0001c0002t0030	a0001c0001t0001g0052 a0001c0001t0001g0082 a0001c0001t0001g0158 others(36): Show a0001c0001t0001g0052 a0001c0001t0001g0082 a0001c0001t0001g0158 a0001c0001t0001g0174 a0001c0001t0002g0242 a0001c0001t0002g0261 a0001c0001t0002g0316 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0186 a0001c0001t0004g0040 a0001c0001t0004g0119 a0001c0001t0005g0267 a0001c0001t0006g0246 a0001c0001t0006g0266 a0001c0001t0006g0285 a0001c0001t0006g0313 a0001c0001t0006g0325 a0001c0001t0006g0326 a0001c0001t0006g0327 a0001c0001t0007g0341 a0001c0001t0007g0342 a0001c0001t0008g0349 a0001c0001t0024g0227 a0001c0001t0026g0376 a0001c0001t0027g0385 a0001c0002t0001g0048 a0001c0002t0001g0063 a0001c0002t0001g0104 a0001c0002t0001g0185 a0001c0002t0002g0257 a0001c0002t0002g0275 a0001c0002t0002g0283 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0007g0379 a0001c0002t0019g0276 a0001c0002t0019g0286 a0001c0002t0030g0093	39	396	0.0985	37	c.52- others(54): Show c.52-15435_52-15434insGTGTATAGTGTGTGTATATATATGTGTG TGTGTGTAT	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	2/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77081819	T T	TATACACA others(30): Show TATACACACACACACATATATATACACACACTATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02965.hp1 HG01884.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0016 a0001c0002t0001g0004 a0001c0001t0001g0016 a0001c0002t0001g0004	2	396	0.0051	37	c.52- others(54): Show c.52-15435_52-15434insGTATATAGTGTGTGTATATATATGTGTG TGTGTGTAT	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	2/8			chr18	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(30): Show AAAAAAAAAAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 NA18968.hp2 HG00558.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0091 a0001c0002t0010 a0001c0001t0091 a0001c0002t0010	a0001c0001t0091g0262 a0001c0002t0010g0012 a0001c0001t0091g0262 a0001c0002t0010g0012	2	340	0.0059	37	c.41 others(48): Show c.4153_*4154insATATATATATATATATATATATATATATTTTTTT TTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51190750	A A	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0043 a0001c0001t0012g0043	1	340	0.0029	37	c.176 others(56): Show c.1768+1452_1768+1453insATATATATATATATATATATATATAT ATATATTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	16/16			chr17	TogoVar
MBTD1_chr17_51172425_51265049	51190750	A A	AAAAATAT others(30): Show AAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	340	0.0029	37	c.176 others(56): Show c.1768+1452_1768+1453insATATATATATATATATATATATATAT ATATATATTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	16/16			chr17	TogoVar
MC1R_chr16_89913862_89925972	89914613	G G	GCCTGTGT others(30): Show GCCTGTGTGTGTGTGTGCCTGTGTGTGTGGGGCACATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	396	0.0025	37	c.-46 others(48): Show c.-4646_-4645insCCTGTGTGTGTGTGTGCCTGTGTGTGTGGGGCAC ATT	MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding		4248		chr16	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	428	0.0023	37	c.-25 others(48): Show c.-2544_-2543insAAATATATATATATATATATATATATATATATAT ATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MCCC2_chr5_71582340_71663706	71587053	G G	GTCACTAT others(30): Show GTCACTATCGTGATATTATCACTATATTATCACTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	350	0.0029	37	c.-37 others(46): Show c.-373_-372insTCACTATCGTGATATTATCACTATATTATCACTATT A	MCCC2	ENSG00000131844.17	transcript	ENST00000340941.11	protein_coding		286		chr5	TogoVar
MCF2L_chr13_112964214_113104742	112988490	T T	TCCTGAGC others(30): Show TCCTGAGCAGGGGATGGAGCTACCACACCCGAGTCCTC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0109 a0002c0017t0001g0109	1	116	0.0086	37	c.79+ others(54): Show c.79+19086_79+19122dupAGCTACCACACCCGAGTCCTCCCTGAGC AGGGGATGG	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCOLN2_chr1_84920583_85002113	84922462	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0031 a0003c0003t0005g0031	1	350	0.0029	37	c.42 others(48): Show c.4222_*4223insAAAAATATATATATATATATATATATATATATAT ATA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3120		chr1	TogoVar
MCPH1_chr8_6401627_6653508	6409976	A A	ATTTTTTT others(30): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0019 a0019	a0019c0059 a0019c0059	a0019c0059t0036 a0019c0059t0036	a0019c0059t0036g0223 a0019c0059t0036g0223	1	262	0.0038	37	c.114 others(52): Show c.114+618_114+619insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCPH1_chr8_6401627_6653508	6443394	A A	ACACATGG others(30): Show ACACATGGTGCCTCCTGCCCACTGGGCTTCCCTCACCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp2 HG02886.hp2 others(7): Show HG01891.hp1 HG02622.hp2 HG02886.hp2 HG03041.hp1 HG03209.hp2 HG03225.hp1 NA18522.hp1 NA18522.hp2 NA20300.hp1 NA21309.hp2	a0019 a0028 a0029 others(3): Show a0019 a0028 a0029 a0031 a0042 a0043	a0019c0056 a0019c0057 a0019c0059 others(6): Show a0019c0056 a0019c0057 a0019c0059 a0028c0018 a0029c0058 a0029c0060 a0031c0040 a0042c0061 a0043c0055	a0019c0056t0015 a0019c0057t0071 a0019c0059t0036 others(7): Show a0019c0056t0015 a0019c0057t0071 a0019c0059t0036 a0028c0018t0009 a0028c0018t0015 a0029c0058t0025 a0029c0060t0007 a0031c0040t0029 a0042c0061t0076 a0043c0055t0027	a0019c0056t0015g0222 a0019c0057t0071g0216 a0019c0059t0036g0223 others(7): Show a0019c0056t0015g0222 a0019c0057t0071g0216 a0019c0059t0036g0223 a0028c0018t0009g0114 a0028c0018t0015g0113 a0029c0058t0025g0224 a0029c0060t0007g0215 a0031c0040t0029g0235 a0042c0061t0076g0039 a0043c0055t0027g0214	10	262	0.0382	37	c.671 others(52): Show c.671-998_671-997insACATGGTGCCTCCTGCCCACTGGGCTTCCC TCACCTC	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCTP1_chr5_94698690_95290094	95154354	G G	GAATGAAG others(30): Show GAATGAAGTTCTCTATGCCAACAGAAACAGAAACCTCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0004 a0001c0001t0020g0004	1	98	0.0102	37	c.720 others(58): Show c.720+129501_720+129502insAGAGGTTTCTGTTTCTGTTGGCAT AGAGAACTTCATT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22			chr5	TogoVar
MCTP2_chr15_94226561_94488952	94244001	A A	ATGCACAC others(30): Show ATGCACACATATGTATACACATACGTATGTGTATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02622.hp1 HG01243.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0103 a0001c0001t0001g0104	2	276	0.0073	37	c.-66 others(56): Show c.-66+12361_-66+12397dupGTATGTGTATATATTGCACACATATG TATACACATAC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MDGA1_chr6_37625679_37702883	37698244	C C	CTCTCTCT others(30): Show CTCTCTCTCTCGCTCTCTCTCTCTCGCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0047 a0001c0001t0034g0047	1	402	0.0025	37	c.-14 others(48): Show c.-1434_-1433insAGAGAGAGAGAGCGAGAGAGAGAGAGCGAGAGAG AGA	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		362		chr6	TogoVar
MDN1_chr6_89637498_89824794	89640459	A A	AGAAATGT others(30): Show AGAAATGTTTTGTATCATTTCCCTCCAAATCATCTTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0139 a0004c0008t0001g0139	1	290	0.0035	37	c.35 others(48): Show c.3545_*3546insACAAGATGATTTGGAGGGAAATGATACAAAACAT TTC	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding		2038		chr6	TogoVar
MDN1_chr6_89637498_89824794	89670170	A A	ATATATAT others(30): Show ATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	290	0.0035	37	c.139 others(56): Show c.13956+748_13956+749insAAAAAAAAAAAAAAATATATATATAT ATATATATATA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
MDN1_chr6_89637498_89824794	89723168	G G	GAAACATG others(30): Show GAAACATGCCCTGCTTACTACTAGGCACTGCATTAAGT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0005 a0005	a0005c0061 a0005c0061	a0005c0061t0002 a0005c0061t0002	a0005c0061t0002g0105 a0005c0061t0002g0105	1	290	0.0035	37	c.577 others(52): Show c.5779-62_5779-26dupACTTAATGCAGTGCCTAGTAGTAAGCAGGG CATGTTT	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	39/101			chr6	TogoVar
ME1_chr6_83205402_83436051	83283227	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	272	0.0037	37	c.705 others(56): Show c.705-29490_705-29489insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13			chr6	TogoVar
MECOM_chr3_169078507_169668712	169485924	G G	GTATATAT others(30): Show GTATATATGTATATATATACTATATATGTATATATGTA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0119 a0002c0002t0006g0119	1	160	0.0063	37	c.38- others(56): Show c.38-104401_38-104400insTACATATATACATATATAGTATATAT ATACATATATA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169507650	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	160	0.0063	37	c.38- others(56): Show c.38-126127_38-126126insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MED13L_chr12_115953576_116282693	116148051	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	254	0.0039	37	c.311 others(56): Show c.311-36540_311-36539insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	2/30			chr12	TogoVar
MED16_chr19_862963_898187	878437	C C	CACGTGCC others(30): Show CACGTGCCCCAGCAGCTCACCTTCCCCTGGTTGTCAAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	56	0.0179	37	c.135 others(56): Show c.1354-1258_1354-1257insATTGACAACCAGGGGAAGGTGAGCTG CTGGGGCACGT	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	8/15			chr19	TogoVar
MED16_chr19_862963_898187	891879	G G	GGGGGCTG others(30): Show GGGGGCTGAGTGTGACGGGGAACACCTGTGGCCGAGGC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0054 a0001c0004t0008g0054	1	56	0.0179	37	c.-18 others(52): Show c.-18-767_-18-731dupGCCTCGGCCACAGGTGTTCCCCGTCACACT CAGCCCC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	1/15			chr19	TogoVar
MED19_chr11_57698710_57717215	57702425	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	380	0.0026	37	c.16 others(48): Show c.1612_*1613insATATATATATATATATATATATATATATATATAT ATA	MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding		1284		chr11	TogoVar

Search by Variant

Search

Search Results (Total: 3614 hits)