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
MAGI1_chr3_65348526_66043918	65891885	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA19030.hp2 HG01261.hp1 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0007 a0002c0002t0001 a0002c0002t0007	a0002c0002t0001g0011 a0002c0002t0007g0066 a0002c0002t0001g0011 a0002c0002t0007g0066	2	104	0.0192	-38	c.313 others(59): Show c.313+146073_313+146110delATATATATATATATATATATATAT ATATATATATATAT	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI2_chr7_78012055_79458667	79391526	TATATATA others(31): Show TATATATATATAGACATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03130.hp1 NA18522.hp1 others(1): Show HG00738.hp1 HG03130.hp1 NA18522.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0015 a0001c0002t0001g0008 a0001c0002t0001g0010 others(1): Show a0001c0001t0001g0015 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0003t0001g0011	4	40	0.1000	-38	c.301 others(57): Show c.301+61456_301+61493delGTATATATATATATATATATATATGT CTATATATATAT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAK_chr6_10757723_10843539	10813104	ATATATAT others(31): Show ATATATATATATATATATATATATATATATAAATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01884.hp1 HG02109.hp2 others(4): Show HG01496.hp1 HG01884.hp1 HG02109.hp2 HG02897.hp1 HG02970.hp1 HG03139.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 others(4): Show a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0268	7	272	0.0257	-38	c.358 others(53): Show c.358+502_358+539delAAAAAATTTATATATATATATATATATATA TATATATA	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	5/14			chr6	TogoVar
MAK_chr6_10757723_10843539	10813112	ATATATAT others(31): Show ATATATATATATATATATATATAAATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0081 a0001c0001t0004g0081	1	272	0.0037	-38	c.358 others(53): Show c.358+494_358+531delAAAAAAAAAAAAAATTTATATATATATATA TATATATA	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	5/14			chr6	TogoVar
MAK_chr6_10757723_10843539	10813114	ATATATAT others(31): Show ATATATATATATATATATATAAATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02486.hp2 HG02723.hp1 others(4): Show HG01243.hp1 HG02486.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG03041.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 others(4): Show a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0226	7	272	0.0257	-38	c.358 others(53): Show c.358+492_358+529delAAAAAAAAAAAAAAAATTTATATATATATA TATATATA	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	5/14			chr6	TogoVar
MALRD1_chr10_19043801_19739478	19467334	GACAGAGT others(31): Show GACAGAGTGAGACTCCGCCACTGCACTCCAGCCTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01074.hp2 HG01192.hp1 others(23): Show HG01070.hp2 HG01074.hp2 HG01192.hp1 HG01256.hp2 HG01358.hp2 HG01993.hp1 HG02074.hp1 HG02602.hp2 HG03491.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG04228.hp2 NA18947.hp1 NA18960.hp2 NA18964.hp1 NA18965.hp1 NA18971.hp2 NA18981.hp2 NA18988.hp2 NA18998.hp2 NA19063.hp1 NA19086.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0005 a0006 a0007 a0021 a0058 a0080 a0092 a0094 a0095 a0097	a0001c0001 a0001c0120 a0002c0028 others(12): Show a0001c0001 a0001c0120 a0002c0028 a0003c0002 a0005c0111 a0006c0004 a0006c0024 a0007c0015 a0021c0011 a0058c0119 a0080c0053 a0092c0096 a0094c0100 a0095c0033 a0097c0102	a0001c0001t0001 a0001c0120t0001 a0002c0028t0001 others(12): Show a0001c0001t0001 a0001c0120t0001 a0002c0028t0001 a0003c0002t0001 a0005c0111t0002 a0006c0004t0001 a0006c0024t0001 a0007c0015t0001 a0021c0011t0002 a0058c0119t0001 a0080c0053t0001 a0092c0096t0001 a0094c0100t0001 a0095c0033t0001 a0097c0102t0001	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0054 others(23): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0129 a0001c0120t0001g0142 a0002c0028t0001g0101 a0003c0002t0001g0029 a0003c0002t0001g0030 a0003c0002t0001g0046 a0003c0002t0001g0049 a0003c0002t0001g0119 a0005c0111t0002g0090 a0006c0004t0001g0026 a0006c0004t0001g0035 a0006c0004t0001g0133 a0006c0024t0001g0127 a0007c0015t0001g0109 a0007c0015t0001g0122 a0021c0011t0002g0018 a0058c0119t0001g0010 a0080c0053t0001g0117 a0092c0096t0001g0004 a0094c0100t0001g0143 a0095c0033t0001g0103 a0097c0102t0001g0098	26	152	0.1711	-38	c.502 others(59): Show c.5029+16848_5029+16885delGAGTGAGACTCCGCCACTGCACTC CAGCCTGGGCAACA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	29/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAML3_chr4_139711753_140159184	139801633	GGTGTGTG others(31): Show GGTGTGTGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(93): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG01981.hp1 HG02055.hp1 HG02055.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02258.hp2 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03225.hp2 HG03239.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18991.hp1 NA18991.hp2 NA19011.hp1 NA19011.hp2 NA19065.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0015	a0001c0001 a0001c0002 a0001c0004 others(19): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0001c0011 a0001c0023 a0001c0027 a0002c0003 a0002c0018 a0003c0005 a0004c0006 a0004c0012 a0004c0020 a0004c0022 a0005c0007 a0005c0014 a0006c0008 a0007c0009 a0008c0013 a0010c0024 a0011c0021 a0015c0025	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(64): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0042 a0001c0001t0045 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0016 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0006 a0001c0004t0019 a0001c0004t0024 a0001c0010t0002 a0001c0010t0013 a0001c0011t0002 a0001c0011t0005 a0001c0023t0002 a0001c0027t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0006 a0002c0003t0010 a0002c0003t0022 a0002c0003t0032 a0002c0018t0023 a0003c0005t0001 a0003c0005t0002 a0003c0005t0005 a0003c0005t0007 a0003c0005t0040 a0004c0006t0004 a0004c0006t0008 a0004c0006t0043 a0004c0012t0004 a0004c0012t0008 a0004c0020t0035 a0004c0022t0004 a0005c0007t0013 a0005c0007t0014 a0005c0007t0017 a0005c0014t0001 a0005c0014t0013 a0006c0008t0009 a0006c0008t0029 a0007c0009t0023 a0007c0009t0036 a0007c0009t0044 a0008c0013t0004 a0010c0024t0038 a0011c0021t0012 a0015c0025t0003	a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0028 others(93): Show a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0052 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0003g0050 a0001c0001t0006g0129 a0001c0001t0009g0121 a0001c0001t0018g0111 a0001c0001t0019g0115 a0001c0001t0020g0120 a0001c0001t0020g0126 a0001c0001t0021g0134 a0001c0001t0021g0135 a0001c0001t0028g0061 a0001c0001t0030g0022 a0001c0001t0031g0083 a0001c0001t0033g0033 a0001c0001t0042g0119 a0001c0001t0045g0147 a0001c0002t0001g0027 a0001c0002t0001g0098 a0001c0002t0002g0041 a0001c0002t0005g0015 a0001c0002t0005g0099 a0001c0002t0006g0123 a0001c0002t0007g0076 a0001c0002t0009g0136 a0001c0002t0016g0006 a0001c0002t0016g0007 a0001c0004t0001g0016 a0001c0004t0001g0017 a0001c0004t0001g0032 a0001c0004t0001g0035 a0001c0004t0001g0069 a0001c0004t0001g0108 a0001c0004t0002g0024 a0001c0004t0002g0038 a0001c0004t0002g0043 a0001c0004t0002g0060 a0001c0004t0002g0062 a0001c0004t0002g0077 a0001c0004t0003g0029 a0001c0004t0006g0133 a0001c0004t0019g0112 a0001c0004t0024g0001 a0001c0010t0002g0092 a0001c0010t0013g0142 a0001c0011t0002g0013 a0001c0011t0005g0019 a0001c0023t0002g0075 a0001c0027t0001g0065 a0002c0003t0001g0070 a0002c0003t0001g0074 a0002c0003t0002g0012 a0002c0003t0002g0014 a0002c0003t0002g0096 a0002c0003t0002g0107 a0002c0003t0003g0046 a0002c0003t0003g0089 a0002c0003t0006g0137 a0002c0003t0010g0063 a0002c0003t0022g0145 a0002c0003t0032g0048 a0002c0018t0023g0144 a0003c0005t0001g0053 a0003c0005t0001g0066 a0003c0005t0002g0067 a0003c0005t0005g0087 a0003c0005t0005g0088 a0003c0005t0007g0045 a0003c0005t0040g0118 a0004c0006t0004g0058 a0004c0006t0004g0078 a0004c0006t0008g0124 a0004c0006t0008g0127 a0004c0006t0043g0151 a0004c0012t0004g0030 a0004c0012t0008g0130 a0004c0020t0035g0047 a0004c0022t0004g0105 a0005c0007t0013g0146 a0005c0007t0014g0139 a0005c0007t0017g0011 a0005c0014t0001g0031 a0005c0014t0013g0138 a0006c0008t0009g0128 a0006c0008t0029g0094 a0007c0009t0023g0141 a0007c0009t0036g0110 a0007c0009t0044g0140 a0008c0013t0004g0056 a0010c0024t0038g0113 a0011c0021t0012g0071 a0015c0025t0003g0021	96	152	0.6316	-38	c.208 others(59): Show c.2080-71004_2080-70967delACACACACACACACACACACACAC ACACCCACACACAC	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4			chr4	TogoVar
MAP3K12_chr12_53474669_53504458	53498908	CTGTGTGT others(31): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02258.hp1 HG01256.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0125 a0001c0001t0003g0124 a0001c0001t0001g0125 a0001c0001t0003g0124	2	328	0.0061	-38	c.-38 others(53): Show c.-38+481_-38+518delCACACACACACACACACACACACACACACA CACACACA	MAP3K12	ENSG00000139625.13	transcript	ENST00000547488.6	protein_coding	1/13			chr12	TogoVar
MAP3K14_chr17_45258119_45322020	45262511	GGCACCCC others(31): Show GGCACCCCGTGTGCCCCAGCTCCATGACCAAGGAACTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01515.hp2 HG02572.hp2 others(2): Show HG01099.hp1 HG01515.hp2 HG02572.hp2 HG03654.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0002g0002 others(2): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0002g0002 a0001c0001t0002g0130 a0001c0001t0002g0254	5	336	0.0149	-38	c.20 others(49): Show c.2087_*2124delTGAGTTCCTTGGTCATGGAGCTGGGGCACACGGG GTGC	MAP3K14	ENSG00000006062.18	transcript	ENST00000344686.8	protein_coding		607		chr17	TogoVar
MAP3K15_chrX_19355059_19520508	19429760	AAGAGAGA others(31): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02451.hp2 others(7): Show HG02055.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02723.hp1 HG02897.hp1 HG02922.hp2 HG03540.hp2 HG06807.hp2 NA18522.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0003 a0002c0006 others(2): Show a0002c0002 a0002c0003 a0002c0006 a0002c0023 a0005c0007	a0002c0002t0002 a0002c0002t0003 a0002c0003t0003 others(5): Show a0002c0002t0002 a0002c0002t0003 a0002c0003t0003 a0002c0003t0005 a0002c0006t0013 a0002c0006t0017 a0002c0023t0011 a0005c0007t0003	a0002c0002t0002g0149 a0002c0002t0003g0125 a0002c0003t0003g0128 others(7): Show a0002c0002t0002g0149 a0002c0002t0003g0125 a0002c0003t0003g0128 a0002c0003t0005g0018 a0002c0003t0005g0023 a0002c0003t0005g0024 a0002c0006t0013g0011 a0002c0006t0017g0031 a0002c0023t0011g0002 a0005c0007t0003g0129	10	163	0.0614	-38	c.116 others(57): Show c.1166+1640_1166+1677delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCT	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	7/28			chrX	TogoVar
MAP3K4_chr6_160986769_161122380	161000959	ATATAATA others(31): Show ATATAATATACACATATGTATATAATATATATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(24): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02683.hp1 HG03491.hp1 HG03492.hp1 HG03688.hp1 NA18954.hp1 NA18970.hp1 NA19005.hp2 NA19076.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0001c0018 others(1): Show a0001c0001 a0001c0005 a0001c0018 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 a0001c0018t0002 a0003c0003t0002 a0003c0003t0008	a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 others(21): Show a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0330 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0308 a0001c0001t0002g0317 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0005t0002g0314 a0001c0005t0002g0322 a0001c0018t0002g0320 a0003c0003t0002g0307 a0003c0003t0002g0310 a0003c0003t0002g0315 a0003c0003t0002g0316 a0003c0003t0002g0318 a0003c0003t0002g0319 a0003c0003t0002g0321 a0003c0003t0002g0323 a0003c0003t0008g0313	27	342	0.0790	-38	c.152 others(55): Show c.152+8983_152+9020delTTATATATTATAATATACACATATGTAT ATAATATATA	MAP3K4	ENSG00000085511.20	transcript	ENST00000392142.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
MAP4_chr3_47845695_48021416	47979206	AAGTTTCT others(31): Show AAGTTTCTATTCCTGTACCTAATAATTAGGTGATTAGGT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0123 a0002c0002t0002g0123	1	232	0.0043	-38	c.224 others(55): Show c.224-1311_224-1274delACCTAATCACCTAATTATTAGGTACAGG AATAGAAACT	MAP4	ENSG00000047849.22	transcript	ENST00000683076.1	protein_coding	2/20			chr3	TogoVar
MAP7D2_chrX_20001713_20121907	20094504	ATATATAT others(31): Show ATATATATATATGTATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01496.hp1 HG02723.hp2 others(4): Show HG01081.hp2 HG01496.hp1 HG02723.hp2 HG04199.hp1 NA18965.hp1 NA18979.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003	a0001c0001t0001g0018 a0002c0002t0001g0142 a0002c0002t0001g0157 others(4): Show a0001c0001t0001g0018 a0002c0002t0001g0142 a0002c0002t0001g0157 a0002c0002t0001g0164 a0002c0002t0001g0168 a0002c0002t0002g0191 a0002c0002t0003g0156	7	210	0.0333	-38	c.130 others(57): Show c.130+22208_130+22245delCATATATATATATATATATATATATA CATATATATATA	MAP7D2	ENSG00000184368.16	transcript	ENST00000379643.10	protein_coding	1/16			chrX	TogoVar
MARCHF6_chr5_10348695_10445388	10435623	CTATATAA others(31): Show CTATATAACTATATAACTATATATATATATATATATATA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG01981.hp2 HG02015.hp1 others(17): Show HG01891.hp2 HG01981.hp2 HG02015.hp1 HG02055.hp1 HG02145.hp1 HG02293.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG03831.hp1 HG03834.hp2 NA18947.hp1 NA18950.hp1 NA18962.hp1 NA18974.hp1 NA18998.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009	a0001c0001t0012 a0001c0001t0020 a0001c0001t0046 others(9): Show a0001c0001t0012 a0001c0001t0020 a0001c0001t0046 a0001c0001t0141 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0151 a0001c0002t0006 a0001c0002t0126 a0001c0007t0012 a0001c0009t0139	a0001c0001t0012g0178 a0001c0001t0012g0199 a0001c0001t0012g0201 others(17): Show a0001c0001t0012g0178 a0001c0001t0012g0199 a0001c0001t0012g0201 a0001c0001t0020g0187 a0001c0001t0020g0235 a0001c0001t0020g0254 a0001c0001t0046g0184 a0001c0001t0141g0262 a0001c0001t0142g0192 a0001c0001t0143g0259 a0001c0001t0144g0237 a0001c0001t0151g0280 a0001c0002t0006g0273 a0001c0002t0006g0274 a0001c0002t0006g0275 a0001c0002t0006g0276 a0001c0002t0006g0279 a0001c0002t0126g0278 a0001c0007t0012g0182 a0001c0009t0139g0258	20	284	0.0704	-38	c.19 others(49): Show c.1946_*1983delACTATATAACTATATATATATATATATATATATA TATA	MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding	26/26	1946	INFO_REALIGN_3_PRIME	chr5	TogoVar
MARCHF6_chr5_10348695_10445388	10435631	CTATATAA others(31): Show CTATATAACTATATATATATATATATATATATATATATA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG02258.hp2 HG03654.hp2 others(1): Show HG00423.hp2 HG02258.hp2 HG03654.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0034 a0001c0001t0120 a0001c0003t0184 a0001c0001t0034 a0001c0001t0120 a0001c0003t0184	a0001c0001t0034g0013 a0001c0001t0034g0047 a0001c0001t0120g0058 others(1): Show a0001c0001t0034g0013 a0001c0001t0034g0047 a0001c0001t0120g0058 a0001c0003t0184g0144	4	284	0.0141	-38	c.19 others(49): Show c.1954_*1991delACTATATATATATATATATATATATATATATATA TATA	MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding	26/26	1954	INFO_REALIGN_3_PRIME	chr5	TogoVar
MARCHF6_chr5_10348695_10445388	10435663	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0064 a0001c0001t0110g0064	1	284	0.0035	-38	c.19 others(49): Show c.1981_*2018delATATATATATATATATATATATATATATATATAT TTTT	MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding	26/26	1981	INFO_REALIGN_3_PRIME	chr5	TogoVar
MARS1_chr12_57483068_57521652	57493413	TATATTAT others(31): Show TATATTATATGATATGTATAATATATTACATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02040.hp1 HG02622.hp1 others(7): Show HG01192.hp1 HG02040.hp1 HG02622.hp1 NA18948.hp2 NA18997.hp1 NA19010.hp1 NA19066.hp1 NA19074.hp1 NA19079.hp1 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0001 a0008c0009t0001 a0001c0001t0001 a0008c0009t0001	a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0249 others(7): Show a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0271 a0001c0001t0001g0277 a0008c0009t0001g0275	10	288	0.0347	-38	c.770 others(55): Show c.770+2774_770+2811delTATATGATATGTATAATATATTACATAA TATATAATAT	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MARS1_chr12_57483068_57521652	57493786	ATATTATA others(31): Show ATATTATATATTATATTATATAATGTATATTATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	288	0.0035	-38	c.770 others(55): Show c.770+3146_770+3183delTATATATTATATTATATAATGTATATTA TATATATTAT	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MATN2_chr8_97864064_98041724	98041316	GAAAACAG others(31): Show GAAAACAGAAATCAGGATGTGTAACTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	318	0.0031	-38	c.56 others(49): Show c.5605_*5642delAAAACAGAAATCAGGATGTGTAACTTTTTTTTTT TTTT	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding		4593		chr8	TogoVar
MAVS_chr20_3841834_3881118	3851523	AAAGTTTA others(31): Show AAAGTTTATAAGGCTGAATTACCGTACTGTCAAAACAAG	A A	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0299 a0001c0003t0008g0299	1	420	0.0024	-38	c.-67 others(55): Show c.-67-3034_-67-2997delAAGTTTATAAGGCTGAATTACCGTACTG TCAAAACAAG	MAVS	ENSG00000088888.18	transcript	ENST00000428216.4	protein_coding	1/6			chr20	TogoVar
MB21D2_chr3_192791815_192922856	192828591	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01255.hp1 HG02486.hp1 others(1): Show HG00558.hp2 HG01255.hp1 HG02486.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0014	a0001c0001t0001g0106 a0001c0001t0004g0161 a0001c0001t0007g0140 others(1): Show a0001c0001t0001g0106 a0001c0001t0004g0161 a0001c0001t0007g0140 a0001c0001t0014g0259	4	298	0.0134	-38	c.212 others(57): Show c.212-28979_212-28942delATATATATATATATATATATATATAT ATATATATATAT	MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1			chr3	TogoVar
MBD3L2_chr19_7044321_7056735	7053494	TTATATAT others(31): Show TTATATATAATATAATTTATATGTTATATAATTATATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00609.hp2 HG01256.hp1 others(24): Show HG00099.hp1 HG00609.hp2 HG01256.hp1 HG02135.hp2 HG02165.hp1 HG02523.hp1 HG02615.hp2 HG03130.hp1 HG03195.hp1 HG03490.hp2 NA18940.hp2 NA18952.hp1 NA18956.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18968.hp2 NA19062.hp1 NA19064.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0036 others(1): Show a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0036 a0002c0002t0001g0039	27	258	0.1047	-38	c.18 others(49): Show c.1873_*1910delTATATATAATATAATTTATATGTTATATAATTAT ATTA	MBD3L2	ENSG00000230522.5	transcript	ENST00000381393.3	protein_coding		1760		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7053494	TTATATAT others(31): Show TTATATATAATATAATTTATATGTTATATAATTATATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00609.hp2 HG01081.hp1 others(22): Show HG00099.hp1 HG00609.hp2 HG01081.hp1 HG02056.hp2 HG02135.hp2 HG02165.hp1 HG02523.hp1 HG03130.hp1 HG03490.hp2 NA18945.hp2 NA18951.hp2 NA18952.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp1 NA18969.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp2 NA19062.hp1 NA19064.hp1 NA19088.hp1	a0002 a0006 a0008 a0002 a0006 a0008	a0002c0002 a0006c0007 a0008c0011 a0002c0002 a0006c0007 a0008c0011	a0002c0002t0001 a0006c0007t0001 a0008c0011t0001 a0002c0002t0001 a0006c0007t0001 a0008c0011t0001	a0002c0002t0001g0006 a0002c0002t0001g0010 a0006c0007t0001g0015 others(1): Show a0002c0002t0001g0006 a0002c0002t0001g0010 a0006c0007t0001g0015 a0008c0011t0001g0024	25	288	0.0868	-38	c.27 others(49): Show c.2790_*2827delTAATATAATTATATAACATATAAATTATATTATA TATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		2712		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7034882	TTATATAT others(31): Show TTATATATATTAAAATATAATTTATATATTATATAATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG01081.hp2 others(7): Show HG00280.hp2 HG00597.hp2 HG01081.hp2 HG02080.hp2 HG03490.hp2 HG04199.hp1 HG06807.hp2 NA18973.hp2 NA18994.hp2 NA19089.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0013 a0002c0002 others(1): Show a0001c0001 a0001c0013 a0002c0002 a0005c0009	a0001c0001t0002 a0001c0013t0002 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0013t0002 a0002c0002t0001 a0005c0009t0001	a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0013t0002g0022 others(2): Show a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0013t0002g0022 a0002c0002t0001g0002 a0005c0009t0001g0020	10	262	0.0382	-38	c.29 others(49): Show c.2941_*2978delTAATTATATAATATATAAATTATATTTTAATATA TATA	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		2866		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035101	ATATAATT others(31): Show ATATAATTATATATATTATATATATATATTATATATTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	262	0.0038	-38	c.27 others(49): Show c.2722_*2759delATAATATATAATATATATATATAATATATATAAT TATA	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		2647		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035102	TATAATTA others(31): Show TATAATTATATATATTATATATATATATTATATATTATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG00642.hp1 others(106): Show HG00544.hp2 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01192.hp2 HG01255.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19043.hp2 NA19058.hp1 NA19064.hp1 NA19065.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19083.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA20752.hp1 NA20805.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0002 a0002c0017 others(1): Show a0001c0001 a0002c0002 a0002c0017 a0012c0021	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0017t0002 a0012c0021t0006	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0016 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0050 a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0010 a0002c0002t0001g0034 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0003g0047 a0002c0002t0005g0040 a0002c0017t0002g0030 a0012c0021t0006g0053	109	262	0.4160	-38	c.27 others(49): Show c.2721_*2758delTATAATATATAATATATATATATAATATATATAA TTAT	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		2646		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035593	ATTATACA others(31): Show ATTATACAATTATATTATATAATTATATAAATATGATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	262	0.0038	-38	c.22 others(49): Show c.2230_*2267delATATCATATTTATATAATTATATAATATAATTGT ATAA	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		2155		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035713	TATATAAA others(31): Show TATATAAATTATATTATATATATAATATAATTATATAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0007 a0004c0004t0002g0007	1	262	0.0038	-38	c.21 others(49): Show c.2110_*2147delGTTATATAATTATATTATATATATAATATAATTT ATAT	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		2035		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7034616	ATTTTATA others(31): Show ATTTTATATTATAATATAATGTATGTTATATAATTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0040 a0001c0014t0002g0040	1	249	0.0040	-38	c.17 others(49): Show c.1723_*1760delTTTTATATTATAATATAATGTATGTTATATAATT ATAT	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		1606		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7034882	TTATATAT others(31): Show TTATATATATTAAAATATAATTTATATATTATATAATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG04199.hp2 HG01257.hp1 HG04199.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0001 a0005c0006t0002 a0002c0002t0001 a0005c0006t0002	a0002c0002t0001g0002 a0005c0006t0002g0001 a0002c0002t0001g0002 a0005c0006t0002g0001	2	249	0.0080	-38	c.19 others(49): Show c.1989_*2026delTATATATATTAAAATATAATTTATATATTATATA ATTA	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		1872		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035101	ATATAATT others(31): Show ATATAATTATATATATTATATATATATATTATATATTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	249	0.0040	-38	c.22 others(49): Show c.2208_*2245delTATAATTATATATATTATATATATATATTATATA TTAT	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2091		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035102	TATAATTA others(31): Show TATAATTATATATATTATATATATATATTATATATTATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00609.hp1 others(97): Show HG00423.hp1 HG00544.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02895.hp1 HG02895.hp2 HG02970.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03710.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18966.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18979.hp2 NA18984.hp1 NA18991.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19058.hp1 NA19064.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19078.hp1 NA19078.hp2 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0008 others(1): Show a0001c0001 a0002c0002 a0002c0008 a0002c0019	a0001c0001t0001 a0002c0002t0001 a0002c0008t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0008t0001 a0002c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0012 a0002c0008t0001g0001 a0002c0008t0001g0021 a0002c0019t0001g0037	100	249	0.4016	-38	c.22 others(49): Show c.2209_*2246delATAATTATATATATTATATATATATATTATATAT TATA	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2092		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035713	TATATAAA others(31): Show TATATAAATTATATTATATATATAATATAATTATATAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0005 a0004c0004t0001g0005	1	249	0.0040	-38	c.28 others(49): Show c.2820_*2857delATATAAATTATATTATATATATAATATAATTATA TAAC	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2703		chr19	TogoVar
MBNL2_chr13_97217333_97399120	97233126	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02027.hp1 HG02071.hp1 others(11): Show HG00642.hp1 HG02027.hp1 HG02071.hp1 HG02735.hp1 HG03540.hp2 HG03669.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 NA18943.hp2 NA18946.hp2 NA18990.hp2 NA19056.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0018	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(11): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0186 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0028 a0001c0001t0003g0018 a0001c0001t0018g0012	14	254	0.0551	-38	c.-60 others(59): Show c.-605+10608_-605+10645delATATATATATATATATATATATAT ATATATATATATAT	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBOAT2_chr2_8847690_9008684	9002055	ACACCAGT others(31): Show ACACCAGTGTGGAAATGTCAGCAAGAATCCTCCGCGGGG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02145.hp1 HG02559.hp2 others(1): Show HG01070.hp2 HG02145.hp1 HG02559.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0149 a0001c0001t0007g0150 a0001c0001t0007g0151 others(1): Show a0001c0001t0007g0149 a0001c0001t0007g0150 a0001c0001t0007g0151 a0001c0001t0007g0152	4	162	0.0247	-38	c.75+ others(53): Show c.75+1447_75+1484delCCCCGCGGAGGATTCTTGCTGACATTTCCA CACTGGTG	MBOAT2	ENSG00000143797.12	transcript	ENST00000305997.8	protein_coding	1/12			chr2	TogoVar
MBOAT7_chr19_54168415_54194580	54172060	TCAGCACA others(31): Show TCAGCACAGAAGACAGCGATGGGCCTGGGGAGGAGCAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0096 a0001c0010t0001g0096	1	373	0.0027	-38	c.19 others(49): Show c.1946_*1983delCCTGCTCCTCCCCAGGCCCATCGCTGTCTTCTGT GCTG	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding		1354		chr19	TogoVar
MBTD1_chr17_51172425_51265049	51197041	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03139.hp2 NA18967.hp1 others(1): Show HG01891.hp2 HG03139.hp2 NA18967.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0092 a0001c0001t0116 a0001c0001t0013 a0001c0001t0092 a0001c0001t0116	a0001c0001t0013g0088 a0001c0001t0013g0334 a0001c0001t0092g0212 others(1): Show a0001c0001t0013g0088 a0001c0001t0013g0334 a0001c0001t0092g0212 a0001c0001t0116g0221	4	340	0.0118	-38	c.122 others(57): Show c.1225-1718_1225-1681delATATATATATATATATATATATATAT ATATATATATAT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	12/16			chr17	TogoVar
MBTPS2_chrX_21834617_21890423	21856277	TCTCGCGC others(31): Show TCTCGCGCCTTTCTCTGCAGCTCGCGCCTTTCTCTGCAG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp1 HG00673.hp1 others(33): Show HG00423.hp2 HG00621.hp1 HG00673.hp1 HG00735.hp1 HG01081.hp2 HG01167.hp1 HG01168.hp1 HG01433.hp1 HG01496.hp1 HG02074.hp1 HG02080.hp2 HG02257.hp2 HG02451.hp1 HG02622.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03453.hp1 HG03704.hp2 HG03831.hp2 HG04115.hp1 HG04184.hp2 NA18943.hp1 NA18947.hp2 NA18978.hp2 NA18999.hp1 NA19002.hp2 NA19060.hp1 NA19066.hp1 NA19075.hp1 NA19081.hp1 NA19086.hp1 NA19091.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(28): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0183 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0002t0003g0028	36	308	0.1169	-38	c.670 others(55): Show c.670+2837_670+2874delGCCTTTCTCTGCAGCTCGCGCCTTTCTC TGCAGCTCGC	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
MBTPS2_chrX_21834617_21890423	21856345	TCTCTGCA others(31): Show TCTCTGCAGCTCGCGCCTTTCTCTGCAGCTCGCCCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03130.hp1 HG02451.hp2 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0286 a0001c0002t0002g0288 a0001c0002t0002g0286 a0001c0002t0002g0288	2	308	0.0065	-38	c.670 others(55): Show c.670+2856_670+2893delGCCTTTCTCTGCAGCTCGCCCCTTCCTC TGCAGCTCGC	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
MC1R_chr16_89913862_89925972	89914681	TTGTGTGT others(31): Show TTGTGTGTGTGTGTGCCTGTGTGTGGGGGTGCACATTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 NA21309.hp1 HG02818.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0000 a0001c0003t0004g0000	2	396	0.0051	-38	c.-45 others(49): Show c.-4577_-4540delTGTGTGTGTGTGTGCCTGTGTGTGGGGGTGCACA TTTG	MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding		4180		chr16	TogoVar
MC1R_chr16_89913862_89925972	89914733	CTGTGTGT others(31): Show CTGTGTGTGTGGGTGCACATTTGTGTGTGTGTGTGCCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG02280.hp2 HG02559.hp2 others(13): Show HG01167.hp2 HG02280.hp2 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03209.hp1 HG03688.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0022 a0001c0003 a0001c0022	a0001c0003t0004 a0001c0003t0005 a0001c0003t0015 others(1): Show a0001c0003t0004 a0001c0003t0005 a0001c0003t0015 a0001c0022t0013	a0001c0003t0004g0000 a0001c0003t0005g0000 a0001c0003t0015g0000 others(1): Show a0001c0003t0004g0000 a0001c0003t0005g0000 a0001c0003t0015g0000 a0001c0022t0013g0000	16	396	0.0404	-38	c.-45 others(49): Show c.-4525_-4488delTGTGTGTGTGGGTGCACATTTGTGTGTGTGTGTG CCTG	MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding		4128		chr16	TogoVar
MC2R_chr18_13877044_13920536	13883601	ACACACAC others(31): Show ACACACACACACACACACACACACACACTCTCTCTCTCT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0205 a0001c0001t0090g0205	1	416	0.0024	-38	c.98 others(48): Show c.986_*1023delAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGT GTG	MC2R	ENSG00000185231.5	transcript	ENST00000327606.4	protein_coding	2/2	986		chr18	TogoVar
MC2R_chr18_13877044_13920536	13920382	CATTCATT others(31): Show CATTCATTTCCTCACTTATTCAGCTCTCATTCGATGAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0054 a0001c0001t0025g0054	1	416	0.0024	-38	c.-50 others(49): Show c.-5061_-5024delACTCATCGAATGAGAGCTGAATAAGTGAGGAAAT GAAT	MC2R	ENSG00000185231.5	transcript	ENST00000327606.4	protein_coding		4847		chr18	TogoVar
MC3R_chr20_56243732_56254815	56253909	CAGATAAC others(31): Show CAGATAACGAAATGCAGAATACAAGATAAACCCTTCAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	460	0.0022	-38	c.40 others(49): Show c.4095_*4132delAGATAACGAAATGCAGAATACAAGATAAACCCTT CAAT	MC3R	ENSG00000124089.4	transcript	ENST00000243911.2	protein_coding		4095		chr20	TogoVar
MCC_chr5_113017106_113493453	113145747	CACACACA others(31): Show CACACACACACACACACACACACACACACACACACACAA	C C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA19083.hp1 NA18983.hp1 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0140 a0002c0002t0001g0156 a0002c0002t0001g0140 a0002c0002t0001g0156	2	160	0.0125	-38	c.742 others(55): Show c.742-2425_742-2388delTTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	4/18			chr5	TogoVar
MCF2L2_chr3_183173041_183433619	183269368	TAACTACC others(31): Show TAACTACCTCATCACCTTTTGTGCAGACAGGGCAGGTTA	T T	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA19007.hp2 NA18970.hp1 NA19007.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0006 a0002c0002 a0006c0006	a0002c0002t0001 a0006c0006t0003 a0002c0002t0001 a0006c0006t0003	a0002c0002t0001g0040 a0006c0006t0003g0043 a0002c0002t0001g0040 a0006c0006t0003g0043	2	176	0.0114	-38	c.186 others(57): Show c.1862+7466_1862+7503delTAACCTGCCCTGTCTGCACAAAAGGT GATGAGGTAGTT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	15/29			chr3	TogoVar
MCF2L_chr13_112964214_113104742	113078067	AAGGCCAA others(31): Show AAGGCCAAGTCCTGCCCACGCCACCACCTGTGGCCTCAG	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01361.hp1 others(5): Show HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01496.hp1 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0023 a0001c0005t0001 a0001c0005t0029 a0001c0001t0023 a0001c0005t0001 a0001c0005t0029	a0001c0001t0023g0018 a0001c0005t0001g0020 a0001c0005t0001g0068 others(5): Show a0001c0001t0023g0018 a0001c0005t0001g0020 a0001c0005t0001g0068 a0001c0005t0001g0079 a0001c0005t0001g0080 a0001c0005t0001g0081 a0001c0005t0001g0088 a0001c0005t0029g0091	8	116	0.0690	-38	c.166 others(55): Show c.1661-223_1661-186delTCAGAGGCCAAGTCCTGCCCACGCCACC ACCTGTGGCC	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	13/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCM10_chr10_13156558_13216110	13204990	GTATGTAT others(31): Show GTATGTATGTATGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0015 a0015	a0015c0027 a0015c0027	a0015c0027t0022 a0015c0027t0022	a0015c0027t0022g0400 a0015c0027t0022g0400	1	432	0.0023	-38	c.249 others(55): Show c.2498+630_2498+667delGTATGTATGTATATATATATATATATAT ATATATATAT	MCM10	ENSG00000065328.17	transcript	ENST00000378714.8	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
MCM10_chr10_13156558_13216110	13204998	GTATGTAT others(31): Show GTATGTATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	432	0.0023	-38	c.249 others(55): Show c.2498+638_2498+675delGTATATATATATATATATATATATATAT ATATATATAT	MCM10	ENSG00000065328.17	transcript	ENST00000378714.8	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
MCM6_chr2_135834626_135881443	135835482	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02896.hp2 HG02897.hp2 others(5): Show HG02258.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03516.hp1 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 others(1): Show a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0022	a0001c0002t0010g0100 a0001c0002t0010g0102 a0001c0002t0010g0103 others(4): Show a0001c0002t0010g0100 a0001c0002t0010g0102 a0001c0002t0010g0103 a0001c0002t0011g0025 a0001c0002t0012g0099 a0001c0002t0012g0104 a0001c0002t0022g0101	8	394	0.0203	-38	c.53 others(49): Show c.5315_*5352delTATATATATATATATATATATATATATATATATA TATA	MCM6	ENSG00000076003.5	transcript	ENST00000264156.3	protein_coding		4143		chr2	TogoVar

Search by Variant

Search

Search Results (Total: 2603 hits)