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.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
MAD1L1_chr7_1810795_2237945	1940964	G G	GCAGGCCT others(19): Show GCAGGCCTCACCCTCCTCTTCCTCTCC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	264	0.0038	26	c.159 others(45): Show c.1597-4093_1597-4068dupGGAGAGGAAGAGGAGGGTGAGGCCTG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1940964	G G	GCAGGCCT others(19): Show GCAGGCCTCAGCCTCCTCTTCCTCTCC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01981.hp1 HG02273.hp1 others(1): Show HG01433.hp2 HG01981.hp1 HG02273.hp1 HG02293.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0002c0005 a0001c0004 a0002c0002 a0002c0005	a0001c0004t0003 a0002c0002t0001 a0002c0005t0001 a0001c0004t0003 a0002c0002t0001 a0002c0005t0001	a0001c0004t0003g0119 a0002c0002t0001g0020 a0002c0002t0001g0032 others(1): Show a0001c0004t0003g0119 a0002c0002t0001g0020 a0002c0002t0001g0032 a0002c0005t0001g0104	4	264	0.0152	26	c.159 others(45): Show c.1597-4068_1597-4067insGGAGAGGAAGAGGAGGCTGAGGCCTG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1940974	C C	CCCTCCTC others(19): Show CCCTCCTCTTCCTCTCCCAGGCCTCAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG01123.hp1 others(6): Show HG00642.hp1 HG01074.hp1 HG01123.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG02572.hp1 HG02976.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0004t0001 a0001c0007t0004 a0002c0002t0002	a0001c0001t0001g0236 a0001c0001t0002g0112 a0001c0001t0002g0129 others(6): Show a0001c0001t0001g0236 a0001c0001t0002g0112 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0004t0001g0092 a0001c0007t0004g0078 a0002c0002t0002g0002	9	264	0.0341	26	c.159 others(45): Show c.1597-4103_1597-4078dupCTGAGGCCTGGGAGAGGAAGAGGAGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18			chr7	TogoVar
MAEA_chr4_1284891_1345137	1297454	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02970.hp1 HG02109.hp2 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0275 a0001c0003t0001g0292 a0001c0003t0001g0275 a0001c0003t0001g0292	2	388	0.0052	26	c.69+ others(41): Show c.69+7475_69+7476insTGTGTGTGTGTGTGTGTGTGTGTGTG	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAF1_chr8_144099461_144112611	144107619	C C	CCTGATGC others(19): Show CCTGATGCGGTGTGGGGGTGGGGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG00735.hp2 others(6): Show HG00099.hp1 HG00642.hp2 HG00735.hp2 HG01074.hp2 HG01123.hp2 HG01496.hp2 HG03453.hp2 HG04199.hp1 NA19076.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0003 a0002c0002t0004g0003	9	336	0.0268	26	c.51 others(35): Show c.510_*511insCTGATGCGGTGTGGGGGTGGGGCCTG	MAF1	ENSG00000179632.10	transcript	ENST00000322428.10	protein_coding		9		chr8	TogoVar
MAGEA12_chrX_152728757_152742669	152729992	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG01346.hp2 others(13): Show HG00423.hp1 HG00621.hp1 HG01346.hp2 HG01358.hp1 HG02004.hp1 HG02165.hp2 NA18941.hp2 NA18950.hp2 NA18968.hp1 NA18969.hp1 NA18980.hp1 NA18982.hp1 NA19006.hp1 NA19074.hp1 NA19091.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0002 a0001c0001t0007g0002 a0001c0002t0001g0004 others(1): Show a0001c0001t0001g0002 a0001c0001t0007g0002 a0001c0002t0001g0004 a0001c0002t0003g0005	16	322	0.0497	26	c.-40 others(37): Show c.-4049_-4048insTATATATATATATATATATATATATA	MAGEA12	ENSG00000213401.10	transcript	ENST00000393869.8	protein_coding		3764		chrX	TogoVar
MAGEA12_chrX_152728757_152742669	152730009	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01081.hp1 HG02602.hp1 others(14): Show HG00140.hp1 HG01081.hp1 HG02602.hp1 HG02735.hp1 HG02738.hp1 HG03239.hp2 HG03688.hp1 HG03834.hp2 HG03927.hp1 NA18948.hp1 NA18965.hp1 NA18971.hp1 NA18977.hp1 NA18995.hp1 NA19011.hp1 NA19067.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0001 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0025 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0007g0002 a0001c0001t0008g0002	17	322	0.0528	26	c.-40 others(37): Show c.-4032_-4031insATATATATATATATATATATATATAC	MAGEA12	ENSG00000213401.10	transcript	ENST00000393869.8	protein_coding		3747		chrX	TogoVar
MAGEA8_chrX_149876183_149890825	149881591	A A	AGGCATGG others(19): Show AGGCATGGCGGCCGGGCATGGCGGCCG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01070.hp2 HG01928.hp1 others(31): Show HG00609.hp1 HG01070.hp2 HG01928.hp1 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02074.hp1 HG02129.hp1 HG02280.hp1 HG02293.hp1 HG02683.hp1 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03486.hp1 HG03540.hp2 NA18942.hp1 NA18942.hp2 NA18950.hp1 NA18961.hp1 NA18965.hp1 NA18971.hp1 NA18977.hp1 NA18988.hp1 NA19002.hp1 NA19055.hp1 NA19056.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19079.hp1 NA19083.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0002g0004 a0001c0002t0001g0004 a0001c0001t0001g0004 a0001c0001t0002g0004 a0001c0002t0001g0004	34	287	0.1185	26	c.-12 others(43): Show c.-126+362_-126+387dupATGGCGGCCGGGCATGGCGGCCGGGC	MAGEA8	ENSG00000156009.10	transcript	ENST00000286482.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGED4B_chrX_52056827_52074183	52060535	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(71): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00639.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01123.hp1 HG01123.hp2 HG01261.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01891.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02055.hp1 HG02074.hp1 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG03098.hp1 HG03130.hp1 HG03225.hp1 HG03239.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG04199.hp1 HG04228.hp1 NA18940.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18977.hp1 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19060.hp1 NA19062.hp1 NA19067.hp1 NA19072.hp1 NA19076.hp1 NA19079.hp2 NA19082.hp1 NA19083.hp1	a0001 a0002 a0005 others(5): Show a0001 a0002 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0002 a0002c0003 others(6): Show a0001c0001 a0001c0002 a0002c0003 a0005c0008 a0006c0010 a0007c0007 a0008c0011 a0009c0005 a0010c0004	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0005c0008t0001 a0006c0010t0001 a0007c0007t0001 a0008c0011t0001 a0009c0005t0001 a0010c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0002t0001g0009 a0001c0002t0001g0017 a0002c0003t0001g0026 a0005c0008t0001g0040 a0006c0010t0001g0037 a0007c0007t0001g0027 a0008c0011t0001g0052 a0009c0005t0001g0057 a0010c0004t0001g0013	74	216	0.3426	26	c.14 others(37): Show c.1493_*1494insCACACACACACACACACACACACACA	MAGED4B	ENSG00000187243.17	transcript	ENST00000335504.10	protein_coding		1291		chrX	TogoVar
MAGED4_chrX_52179888_52197268	52193536	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00438.hp2 others(90): Show HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02074.hp1 HG02145.hp1 HG02148.hp1 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18945.hp1 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18970.hp1 NA18990.hp1 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19055.hp1 NA19056.hp1 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0012 others(10): Show a0001c0001 a0001c0002 a0001c0012 a0001c0017 a0002c0003 a0002c0009 a0002c0010 a0003c0004 a0004c0005 a0009c0014 a0010c0015 a0011c0007 a0012c0016	a0001c0001t0001 a0001c0002t0001 a0001c0012t0001 others(10): Show a0001c0001t0001 a0001c0002t0001 a0001c0012t0001 a0001c0017t0001 a0002c0003t0001 a0002c0009t0001 a0002c0010t0001 a0003c0004t0001 a0004c0005t0001 a0009c0014t0001 a0010c0015t0001 a0011c0007t0001 a0012c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(35): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0002t0001g0009 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0012t0001g0049 a0001c0017t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0026 a0002c0009t0001g0001 a0002c0010t0001g0018 a0003c0004t0001g0004 a0003c0004t0001g0007 a0004c0005t0001g0001 a0009c0014t0001g0002 a0010c0015t0001g0019 a0011c0007t0001g0052 a0012c0016t0001g0038	93	220	0.4227	26	c.14 others(37): Show c.1470_*1471insACACACACACACACACACACACACAC	MAGED4	ENSG00000154545.17	transcript	ENST00000471932.6	protein_coding		1269		chrX	TogoVar
MAGI1_chr3_65348526_66043918	65395636	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0095 a0005c0006t0001g0095	1	104	0.0096	26	c.220 others(45): Show c.2200-4279_2200-4278insTTTTTTTTTTTTTTTTTTTTTTTTTT	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	13/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65530806	C C	CACATATA others(19): Show CACATATATACACGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0097 a0002c0002t0001g0097	1	104	0.0096	26	c.431 others(45): Show c.431-37176_431-37175insATATATATATATACGTGTATATATGT	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	2/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65610742	G G	GTATATAC others(19): Show GTATATACTATATACTATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01123.hp1 others(9): Show HG00140.hp1 HG00741.hp1 HG01123.hp1 HG01192.hp1 HG01261.hp2 HG01884.hp2 HG02698.hp1 HG02698.hp2 HG03139.hp1 HG03453.hp2 HG03492.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0001 a0001c0001t0002 a0001c0001t0013	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0022 others(9): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0075 a0001c0001t0001g0089 a0001c0001t0002g0024 a0001c0001t0013g0104	12	104	0.1154	26	c.430 others(45): Show c.430+11229_430+11230insTATATATATATAGTATATAGTATATA	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	2/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65812468	T T	TCTCTCTC others(19): Show TCTCTCTCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	104	0.0096	26	c.314 others(47): Show c.314-190381_314-190380insTGTGTGTGTGTGTGTGTGTGAGAG AG	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65819875	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0009 a0001c0005t0001g0009	1	104	0.0096	26	c.314 others(47): Show c.314-197788_314-197787insTTTTTTTTTTTTTTTTTTTTTTTT TT	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65880908	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA19030.hp1 HG03453.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0075 a0001c0001t0003g0029 a0001c0001t0001g0075 a0001c0001t0003g0029	2	104	0.0192	26	c.313 others(47): Show c.313+157062_313+157087dupACACACACACACACACACACACAC AC	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI2_chr7_78012055_79458667	78057999	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00738.hp2 others(2): Show HG00140.hp1 HG00639.hp2 HG00738.hp2 HG01261.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0014	a0001c0001t0002 a0001c0002t0001 a0001c0003t0003 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0003t0003 a0001c0010t0002 a0001c0014t0001	a0001c0001t0002g0033 a0001c0002t0001g0025 a0001c0003t0003g0001 others(2): Show a0001c0001t0002g0033 a0001c0002t0001g0025 a0001c0003t0003g0001 a0001c0010t0002g0021 a0001c0014t0001g0030	5	40	0.1250	26	c.370 others(47): Show c.3706+20947_3706+20948insCACACACACACACACACACACACA CA	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	21/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	78328530	C C	CACACACA others(19): Show CACACACACACACACACACACACCCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02897.hp2 HG02965.hp1 others(3): Show HG00140.hp1 HG02897.hp2 HG02965.hp1 HG03041.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0011 a0001c0012	a0001c0001t0002 a0001c0002t0001 a0001c0006t0001 others(3): Show a0001c0001t0002 a0001c0002t0001 a0001c0006t0001 a0001c0007t0001 a0001c0011t0001 a0001c0012t0001	a0001c0001t0002g0033 a0001c0002t0001g0024 a0001c0006t0001g0038 others(3): Show a0001c0001t0002g0033 a0001c0002t0001g0024 a0001c0006t0001g0038 a0001c0007t0001g0040 a0001c0011t0001g0023 a0001c0012t0001g0022	6	40	0.1500	26	c.140 others(47): Show c.1408+15247_1408+15248insAGGGGTGTGTGTGTGTGTGTGTGT GT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	9/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	78431074	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0016 a0001c0004t0001g0016	1	40	0.0250	26	c.104 others(47): Show c.1045+58661_1045+58686dupCACACACACACACACACACACACA CA	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	6/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	78557097	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	40	0.0250	26	c.539 others(45): Show c.539-35453_539-35452insCTTTCTTTTTTTTTTTTTTTTTTTTT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	3/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	78573365	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	40	0.0250	26	c.539 others(45): Show c.539-51721_539-51720insATATATATATATATATATATATATTT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	3/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	78649235	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	40	0.0250	26	c.419 others(45): Show c.419-21997_419-21996insCTTTTTTTTTTTTTTTTTTTTTTTTT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	2/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	79367858	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03041.hp1 HG03130.hp1 others(2): Show HG02451.hp1 HG03041.hp1 HG03130.hp1 HG03579.hp1 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0006 others(1): Show a0001c0003 a0001c0004 a0001c0006 a0001c0013	a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 others(2): Show a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0006t0001 a0001c0013t0001	a0001c0003t0001g0011 a0001c0003t0002g0012 a0001c0004t0001g0031 others(2): Show a0001c0003t0001g0011 a0001c0003t0002g0012 a0001c0004t0001g0031 a0001c0006t0001g0038 a0001c0013t0001g0039	5	40	0.1250	26	c.301 others(45): Show c.301+85161_301+85162insATATATATATATATATATATATATAT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAGT1_chrX_77820747_77900435	77876132	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02258.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0144 a0001c0001t0001g0102 a0001c0001t0001g0144	2	260	0.0077	26	c.103 others(41): Show c.103-561_103-536dupTATATATATATATATATATATATATA	MAGT1	ENSG00000102158.22	transcript	ENST00000618282.5	protein_coding	1/9			chrX	TogoVar
MAJIN_chr11_64933230_64977108	64948602	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	384	0.0026	26	c.350 others(41): Show c.350-809_350-784dupATATATATATATATATATATATATAT	MAJIN	ENSG00000168070.12	transcript	ENST00000301896.6	protein_coding	6/10			chr11	TogoVar
MAJIN_chr11_64933230_64977108	64948639	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	384	0.0026	26	c.350 others(41): Show c.350-821_350-820insAATATATATATATATATATATATATA	MAJIN	ENSG00000168070.12	transcript	ENST00000301896.6	protein_coding	6/10			chr11	TogoVar
MAK_chr6_10757723_10843539	10815912	G G	GTACATAT others(19): Show GTACATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG04184.hp1 HG01168.hp1 HG01169.hp1 HG04184.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0006 a0001c0002 a0004c0006	a0001c0002t0003 a0004c0006t0003 a0001c0002t0003 a0004c0006t0003	a0001c0002t0003g0091 a0001c0002t0003g0092 a0004c0006t0003g0093 a0001c0002t0003g0091 a0001c0002t0003g0092 a0004c0006t0003g0093	3	272	0.0110	26	c.278 others(43): Show c.278+1937_278+1938insTATATATATATATATATATATATGTA	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	4/14			chr6	TogoVar
MAK_chr6_10757723_10843539	10815912	G G	GTGTGTAT others(19): Show GTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	272	0.0037	26	c.278 others(43): Show c.278+1937_278+1938insTATATATATATATATATATATACACA	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	4/14			chr6	TogoVar
MAK_chr6_10757723_10843539	10815945	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02818.hp2 HG02886.hp1 others(1): Show HG02622.hp2 HG02818.hp2 HG02886.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0200 a0001c0001t0001g0223 a0001c0001t0002g0231 others(1): Show a0001c0001t0001g0200 a0001c0001t0001g0223 a0001c0001t0002g0231 a0001c0001t0002g0239	4	272	0.0147	26	c.278 others(43): Show c.278+1904_278+1905insTTATATATATATATATATATATATAT	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	4/14			chr6	TogoVar
MALRD1_chr10_19043801_19739478	19165242	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01071.hp2 HG01975.hp1 others(4): Show HG00642.hp2 HG01071.hp2 HG01975.hp1 HG02132.hp1 HG03486.hp2 HG03579.hp1 NA20805.hp2	a0006 a0007 a0009 others(4): Show a0006 a0007 a0009 a0012 a0024 a0056 a0060	a0006c0004 a0007c0008 a0009c0071 others(4): Show a0006c0004 a0007c0008 a0009c0071 a0012c0092 a0024c0113 a0056c0070 a0060c0065	a0006c0004t0001 a0007c0008t0001 a0009c0071t0001 others(4): Show a0006c0004t0001 a0007c0008t0001 a0009c0071t0001 a0012c0092t0001 a0024c0113t0001 a0056c0070t0001 a0060c0065t0001	a0006c0004t0001g0133 a0007c0008t0001g0031 a0009c0071t0001g0001 others(4): Show a0006c0004t0001g0133 a0007c0008t0001g0031 a0009c0071t0001g0001 a0012c0092t0001g0017 a0024c0113t0001g0038 a0056c0070t0001g0149 a0060c0065t0001g0025	7	152	0.0461	26	c.165 others(43): Show c.1657-371_1657-370insATATATATATATATATATATATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	12/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19175463	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03669.hp1 NA18971.hp2 HG02071.hp1 HG03669.hp1 NA18971.hp2	a0002 a0006 a0010 a0002 a0006 a0010	a0002c0028 a0006c0004 a0010c0014 a0002c0028 a0006c0004 a0010c0014	a0002c0028t0001 a0006c0004t0001 a0010c0014t0001 a0002c0028t0001 a0006c0004t0001 a0010c0014t0001	a0002c0028t0001g0101 a0006c0004t0001g0035 a0010c0014t0001g0008 a0002c0028t0001g0101 a0006c0004t0001g0035 a0010c0014t0001g0008	3	152	0.0197	26	c.195 others(43): Show c.1951+155_1951+156insATATATATATATATATATATATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	14/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19454405	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0085 a0085	a0085c0048 a0085c0048	a0085c0048t0002 a0085c0048t0002	a0085c0048t0002g0087 a0085c0048t0002g0087	1	152	0.0066	26	c.502 others(45): Show c.5029+3917_5029+3942dupTATATATATATATATATATATATATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	29/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19454431	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03486.hp1 HG01993.hp2 HG03486.hp1	a0009 a0037 a0009 a0037	a0009c0073 a0037c0043 a0009c0073 a0037c0043	a0009c0073t0001 a0037c0043t0002 a0009c0073t0001 a0037c0043t0002	a0009c0073t0001g0032 a0037c0043t0002g0148 a0009c0073t0001g0032 a0037c0043t0002g0148	2	152	0.0132	26	c.502 others(45): Show c.5029+3942_5029+3943insTATATATATATATATATATATATAAA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	29/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19547818	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0031 a0007c0008t0001g0031	1	152	0.0066	26	c.547 others(47): Show c.5478+16468_5478+16469insATATATATATATATATATATATAT TT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	32/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19547818	A A	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0040 a0040	a0040c0093 a0040c0093	a0040c0093t0001 a0040c0093t0001	a0040c0093t0001g0015 a0040c0093t0001g0015	1	152	0.0066	26	c.547 others(47): Show c.5478+16468_5478+16469insATATATATATATTTTTTTTTTTTT TT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	32/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19692886	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp2 HG03453.hp1 others(1): Show HG02109.hp1 HG02572.hp2 HG03453.hp1 NA19030.hp2	a0015 a0038 a0041 others(1): Show a0015 a0038 a0041 a0084	a0015c0016 a0038c0042 a0041c0094 others(1): Show a0015c0016 a0038c0042 a0041c0094 a0084c0089	a0015c0016t0002 a0038c0042t0001 a0041c0094t0001 others(1): Show a0015c0016t0002 a0038c0042t0001 a0041c0094t0001 a0084c0089t0001	a0015c0016t0002g0083 a0038c0042t0001g0023 a0041c0094t0001g0105 others(1): Show a0015c0016t0002g0083 a0038c0042t0001g0023 a0041c0094t0001g0105 a0084c0089t0001g0011	4	152	0.0263	26	c.631 others(43): Show c.6314+333_6314+334insTATATATATATATATATATATATAAA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	38/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19719223	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0060 a0060	a0060c0065 a0060c0065	a0060c0065t0001 a0060c0065t0001	a0060c0065t0001g0025 a0060c0065t0001g0025	1	152	0.0066	26	c.631 others(47): Show c.6315-11472_6315-11447dupATATATATATATATATATATATAT AT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	38/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAMDC2_chr9_70038848_70231972	70118297	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18985.hp1 NA18967.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0094 a0001c0001t0004g0017 a0001c0001t0004g0094	2	340	0.0059	26	c.643 others(43): Show c.643+5191_643+5216dupCACACACACACACACACACACACACA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATAGAGA others(19): Show TATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	340	0.0029	26	c.191 others(45): Show c.1911+2785_1911+2786insTAGAGAGAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(19): Show TATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02738.hp1 HG00597.hp1 HG02738.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0002 a0001c0001t0004 a0002c0002t0002	a0001c0001t0004g0302 a0002c0002t0002g0135 a0001c0001t0004g0302 a0002c0002t0002g0135	2	340	0.0059	26	c.191 others(45): Show c.1911+2785_1911+2786insTATATAGAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(19): Show TATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02602.hp1 HG01257.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0234 a0001c0001t0001g0198 a0001c0001t0001g0234	2	340	0.0059	26	c.191 others(45): Show c.1911+2785_1911+2786insTATATATATATATAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(19): Show TATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18988.hp2 NA19000.hp1 HG02723.hp2 NA18988.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0215 a0001c0001t0001g0332 a0001c0001t0001g0333	3	340	0.0088	26	c.191 others(45): Show c.1911+2785_1911+2786insTATATATATATATATATAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAML2_chr11_95971598_96348195	96068438	T T	TCACACAC others(19): Show TCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0054 a0001c0002t0005g0054	1	230	0.0044	26	c.213 others(47): Show c.2139+23428_2139+23453dupTGTGTGTGTGTGTGTGTGTGTGTG TG	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96121780	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG01167.hp2 others(2): Show HG00140.hp1 HG00438.hp1 HG01167.hp2 HG02735.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0018	a0001c0001t0002g0044 a0001c0002t0001g0188 a0001c0002t0002g0041 others(2): Show a0001c0001t0002g0044 a0001c0002t0001g0188 a0001c0002t0002g0041 a0001c0002t0008g0127 a0001c0002t0018g0033	5	230	0.0217	26	c.514 others(45): Show c.514-28264_514-28263insAAAAAAAAAAAAAAAAAAAAAAAAAA	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96155509	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	230	0.0044	26	c.514 others(45): Show c.514-62018_514-61993dupATATATATATATATATATATATATAT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96240557	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0081 a0002c0003t0009g0081	1	230	0.0044	26	c.513 others(47): Show c.513+100800_513+100825dupTTTTTTTTTTTTTTTTTTTTTTTT TT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96240557	C C	CAACAAAA others(19): Show CAACAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0199 a0001c0002t0003g0199	1	230	0.0044	26	c.513 others(47): Show c.513+100825_513+100826insTTTTTTTTTTTTTTTTTTTTTTTG TT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96299058	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0228 a0001c0001t0047g0228	1	230	0.0044	26	c.513 others(45): Show c.513+42324_513+42325insATATATATATATATATATATATATAT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96299060	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	230	0.0044	26	c.513 others(45): Show c.513+42322_513+42323insATATATATATATATATATATATATAT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML3_chr4_139711753_140159184	139781508	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp2 HG03492.hp1 HG02148.hp1 HG02148.hp2 HG03492.hp1	a0003 a0004 a0008 a0003 a0004 a0008	a0003c0005 a0004c0006 a0008c0013 a0003c0005 a0004c0006 a0008c0013	a0003c0005t0001 a0004c0006t0008 a0008c0013t0037 a0003c0005t0001 a0004c0006t0008 a0008c0013t0037	a0003c0005t0001g0066 a0004c0006t0008g0127 a0008c0013t0037g0117 a0003c0005t0001g0066 a0004c0006t0008g0127 a0008c0013t0037g0117	3	152	0.0197	26	c.208 others(47): Show c.2080-50842_2080-50841insATATATATATATATATATATATAT AT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4			chr4	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)