Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MID1_chrX_10440556_10625585	10566532	C C	CCTCTCTC others(29): Show CCTCTCTCTCCCTCTCTCTCTCCCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	165	0.0061	36	c.660 others(51): Show c.660+355_660+356insAGAGAGAGAGAGAGGGAGAGAGAGAGGGAG AGAGAG	MID1	ENSG00000101871.18	transcript	ENST00000317552.9	protein_coding	2/9			chrX	TogoVar
MIER2_chr19_300573_349796	309829	C C	CACACACG others(29): Show CACACACGCACACAAGGCTTCAGGGAGACGAGAAGGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02895.hp1 HG01884.hp2 HG02895.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0226 a0001c0005t0002g0227 a0001c0005t0002g0226 a0001c0005t0002g0227	2	384	0.0052	36	c.985 others(51): Show c.985-905_985-904insCCCTTCTCGTCTCCCTGAAGCCTTGTGTGC GTGTGT	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	10/13			chr19	TogoVar
MIGA1_chr1_77774649_77884540	77882525	C C	CTTTTATA others(29): Show CTTTTATAACCTAGATGTGGAAGTGTTGCCACTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	280	0.0036	36	c.74 others(47): Show c.7461_*7462insTTTTATAACCTAGATGTGGAAGTGTTGCCACTTC TG	MIGA1	ENSG00000180488.17	transcript	ENST00000370791.9	protein_coding		2986		chr1	TogoVar
MILR1_chr17_64444115_64473643	64445901	T T	TACCTATG others(29): Show TACCTATGTATCAAACCTGCACATTGTGCACATGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02896.hp2 HG02897.hp1 others(1): Show HG02818.hp2 HG02896.hp2 HG02897.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0025 a0001c0001t0001g0055 a0001c0001t0001g0057	4	394	0.0102	36	c.-32 others(47): Show c.-3268_-3267insACCTATGTATCAAACCTGCACATTGTGCACATGT AC	MILR1	ENSG00000271605.6	transcript	ENST00000619286.5	protein_coding		3213		chr17	TogoVar
MINAR1_chr15_79427336_79477304	79427412	A A	ACTGTACC others(29): Show ACTGTACCATCTTCTGGATCTCAGTTTTAGATTGACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0016 a0002c0003t0016	a0002c0003t0016g0004 a0002c0003t0016g0004	1	390	0.0026	36	c.-51 others(47): Show c.-5179_-5178insCTGTACCATCTTCTGGATCTCAGTTTTAGATTGA CC	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding		4923		chr15	TogoVar
MINAR1_chr15_79427336_79477304	79438354	G G	GGTGGGTA others(29): Show GGTGGGTAGTGAGTGTGTGGAGTGTGGGGTGGGTAGT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01071.hp2 HG02056.hp1 others(1): Show HG00558.hp1 HG01071.hp2 HG02056.hp1 HG02683.hp2	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0002 a0001c0012 a0003c0005 others(1): Show a0001c0002 a0001c0012 a0003c0005 a0013c0027	a0001c0002t0023 a0001c0012t0001 a0003c0005t0006 others(1): Show a0001c0002t0023 a0001c0012t0001 a0003c0005t0006 a0013c0027t0006	a0001c0002t0023g0177 a0001c0012t0001g0291 a0003c0005t0006g0044 others(1): Show a0001c0002t0023g0177 a0001c0012t0001g0291 a0003c0005t0006g0044 a0013c0027t0006g0045	4	390	0.0103	36	c.-51 others(53): Show c.-51+5814_-51+5815insGTGGGTAGTGAGTGTGTGGAGTGTGGGG TGGGTAGT	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3			chr15	TogoVar
MINDY2_chr15_58766302_58866900	58831041	G G	GTGTGTAT others(29): Show GTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0019 a0003c0005t0019	a0003c0005t0019g0097 a0003c0005t0019g0097	1	384	0.0026	36	c.122 others(53): Show c.1226-732_1226-731insGTGTATATATATATATATATATATATAT ATATATAT	MINDY2	ENSG00000128923.11	transcript	ENST00000559228.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
MINK1_chr17_4828340_4903061	4876098	A A	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0026 a0003c0003t0026	a0003c0003t0026g0082 a0003c0003t0026g0082	1	360	0.0028	36	c.58- others(51): Show c.58-2209_58-2208insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MKLN1_chr7_131322876_131501632	131499780	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0164 a0001c0001t0010g0164	1	320	0.0031	36	c.12 others(49): Show c.12052_*12053insATATATATATATATATATATATATATATATAT ATAT	MKLN1	ENSG00000128585.18	transcript	ENST00000352689.11	protein_coding		3149		chr7	TogoVar
MKX_chr10_27667874_27750819	27711494	T T	TTTCTCTC others(29): Show TTTCTCTCTCTCTCTCTCTCTCTCCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0231 a0001c0001t0006g0231	1	354	0.0028	36	c.838 others(55): Show c.838+22961_838+22962insGAAGGAAGGAAGGGAGAGAGAGAGAG AGAGAGAGAA	MKX	ENSG00000150051.14	transcript	ENST00000419761.6	protein_coding	5/6			chr10	TogoVar
MKX_chr10_27667874_27750819	27711494	T T	TTTCTTTC others(29): Show TTTCTTTCTCTCTCTCTCTCTCTCTCTCCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0225 a0001c0001t0033g0225	1	354	0.0028	36	c.838 others(55): Show c.838+22961_838+22962insGAAGGAAGGGAGAGAGAGAGAGAGAG AGAGAAAGAA	MKX	ENSG00000150051.14	transcript	ENST00000419761.6	protein_coding	5/6			chr10	TogoVar
MLC1_chr22_50054391_50090426	50057229	A A	ATCAGGTC others(29): Show ATCAGGTCTGGGTTGAGGGATCAGTTCTAGGTTGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18968.hp2 NA18967.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0023 a0001c0001t0015g0020 a0001c0001t0001g0023 a0001c0001t0015g0020	2	212	0.0094	36	c.43 others(47): Show c.4318_*4353dupCCCCAACCTAGAACTGATCCCTCAACCCAGACCT GA	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding		2161		chr22	TogoVar
MLC1_chr22_50054391_50090426	50057426	G G	GGGGTCAG others(29): Show GGGGTCAGGTCTGGGTTGTGAGTCAGGTCTGGGTTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	212	0.0047	36	c.41 others(47): Show c.4156_*4157insACAACCCAGACCTGACTCACAACCCAGACCTGAC CC	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding		1964		chr22	TogoVar
MLC1_chr22_50054391_50090426	50081009	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02451.hp2 HG02148.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0032 a0001c0001t0012g0108 a0001c0001t0001g0032 a0001c0001t0012g0108	2	212	0.0094	36	c.268 others(51): Show c.268-648_268-613dupCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding	3/11			chr22	TogoVar
MLIP_chr6_54106443_54271280	54109924	T T	TCTTCCTT others(29): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 NA18941.hp2 NA18953.hp2 HG00099.hp2 NA18941.hp2 NA18953.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0002 a0002c0003t0001 a0002c0003t0002	a0002c0003t0001g0107 a0002c0003t0001g0108 a0002c0003t0002g0116 a0002c0003t0001g0107 a0002c0003t0001g0108 a0002c0003t0002g0116	3	248	0.0121	36	c.-15 others(47): Show c.-1556_-1555insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TC	MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding		1518		chr6	TogoVar
MLLT10_chr10_21529232_21748630	21712203	C C	CATTTATT others(29): Show CATTTATTTATTTATTTATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG03225.hp2 HG02895.hp2 HG02897.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024	3	192	0.0156	36	c.170 others(55): Show c.1700-1549_1700-1548insATTTATTTATTTATTTATTTATTTAT TTATTTATTT	MLLT10	ENSG00000078403.17	transcript	ENST00000307729.12	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr10	TogoVar
MLLT10_chr10_21529232_21748630	21717665	T T	TTCCTCCT others(29): Show TTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0191 a0001c0002t0002g0191	1	192	0.0052	36	c.187 others(55): Show c.1878+3738_1878+3739insTTCCTCCTCCTCCTCCTCCTCCTCTT CCTCCTCCTC	MLLT10	ENSG00000078403.17	transcript	ENST00000307729.12	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr10	TogoVar
MLLT10_chr10_21529232_21748630	21717722	C C	CTCCTCTT others(29): Show CTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	192	0.0052	36	c.187 others(55): Show c.1878+3777_1878+3778insTTCCTCCTCCTCCTCTTCCTCCTCCT CCTCTTCCTC	MLLT10	ENSG00000078403.17	transcript	ENST00000307729.12	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr10	TogoVar
MLPH_chr2_237482251_237560322	237524302	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01099.hp1 HG02074.hp2 others(2): Show HG00140.hp1 HG01099.hp1 HG02074.hp2 HG02630.hp2 HG02717.hp2	a0003 a0006 a0017 others(1): Show a0003 a0006 a0017 a0032	a0003c0003 a0006c0006 a0017c0020 others(1): Show a0003c0003 a0006c0006 a0017c0020 a0032c0047	a0003c0003t0001 a0003c0003t0002 a0006c0006t0003 others(2): Show a0003c0003t0001 a0003c0003t0002 a0006c0006t0003 a0017c0020t0009 a0032c0047t0005	a0003c0003t0001g0111 a0003c0003t0002g0238 a0006c0006t0003g0117 others(2): Show a0003c0003t0001g0111 a0003c0003t0002g0238 a0006c0006t0003g0117 a0017c0020t0009g0172 a0032c0047t0005g0036	5	286	0.0175	36	c.676 others(53): Show c.676-1280_676-1279insTATATATATATATATATATATATATATA TATATATA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237542924	G G	GGGGACAG others(29): Show GGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0016 a0016	a0016c0025 a0016c0025	a0016c0025t0003 a0016c0025t0003	a0016c0025t0003g0270 a0016c0025t0003g0270	1	286	0.0035	36	c.153 others(53): Show c.1539+266_1539+267insGGACAGTGGTGAGTGGGCACGGTAGTGA GTGGGGAG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237542925	G G	GGACAGTG others(29): Show GGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0045 a0002c0045	a0002c0045t0001 a0002c0045t0001	a0002c0045t0001g0028 a0002c0045t0001g0028	1	286	0.0035	36	c.153 others(53): Show c.1539+266_1539+267insGACAGTGGTGAGTGGGGGACAGTGGTGA GTGGGGGC	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLPH_chr2_237482251_237560322	237544110	T T	TTGGGGGA others(29): Show TTGGGGGACAGTGGTGAGTTGGGACAGTGGTGAGTGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0241 a0003c0003t0003g0241	1	286	0.0035	36	c.153 others(55): Show c.1539+1451_1539+1452insTGGGGGACAGTGGTGAGTTGGGACAG TGGTGAGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLPH_chr2_237482251_237560322	237544349	T T	TGGGGGGA others(29): Show TGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTTG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02922.hp1 HG02717.hp2 HG02922.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0116 a0006c0006t0003g0117 a0006c0006t0003g0116 a0006c0006t0003g0117	2	286	0.0070	36	c.153 others(55): Show c.1539+1694_1539+1695insGGACAGTGGTGAGTGGGGACAGTGGT GAGTTGGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLXIPL_chr7_73588202_73629522	73589743	T T	TTATATAA others(29): Show TTATATAATATATAAAGTATATTGTATATAAATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0013 a0002c0002t0002g0013	1	276	0.0036	36	c.41 others(47): Show c.4121_*4122insTAATATTTATATACAATATACTTTATATATTATA TA	MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding		3458		chr7	TogoVar
MLXIPL_chr7_73588202_73629522	73602126	G G	GCCTTCCT others(29): Show GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19240.hp2 NA18942.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0208 a0001c0001t0001g0196 a0001c0001t0001g0208	2	276	0.0073	36	c.902 others(53): Show c.902-2432_902-2431insAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGG	MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding	7/16			chr7	TogoVar
MLXIPL_chr7_73588202_73629522	73602130	G G	GCCTGCCT others(29): Show GCCTGCCTGCCTGCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	276	0.0036	36	c.902 others(53): Show c.902-2436_902-2435insAAGGAAGGAAGGAAGGAAGGAAGGCAGG CAGGCAGG	MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding	7/16			chr7	TogoVar
MLXIPL_chr7_73588202_73629522	73602130	G G	GCCTGCCT others(29): Show GCCTGCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02056.hp1 HG02129.hp1 others(4): Show HG01361.hp2 HG02056.hp1 HG02129.hp1 HG02300.hp1 NA18959.hp2 NA19055.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0120 a0001c0001t0001g0159 others(4): Show a0001c0001t0001g0042 a0001c0001t0001g0120 a0001c0001t0001g0159 a0001c0001t0001g0180 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0242	7	276	0.0254	36	c.902 others(53): Show c.902-2436_902-2435insAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGCAGG	MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding	7/16			chr7	TogoVar
MLXIPL_chr7_73588202_73629522	73602130	G G	GCCTTCCT others(29): Show GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02615.hp2 others(6): Show HG01884.hp1 HG02109.hp2 HG02615.hp2 HG02717.hp2 HG03098.hp1 HG03516.hp2 HG03654.hp1 NA18522.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0001c0001t0001 a0001c0001t0002 a0001c0009t0001	a0001c0001t0001g0004 a0001c0001t0001g0039 a0001c0001t0001g0142 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0039 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0176 a0001c0001t0001g0186 a0001c0001t0002g0115 a0001c0009t0001g0018	9	276	0.0326	36	c.902 others(53): Show c.902-2471_902-2436dupAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGG	MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding	7/16			chr7	TogoVar
MLXIP_chr12_122073756_122152344	122124413	C C	CCACCTCA others(29): Show CCACCTCAGCCGTCCCCCTCCTCAGCCGTCCCCCCCG	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0258 a0002c0002t0002g0258	1	354	0.0028	36	c.414 others(53): Show c.414-2843_414-2842insCACCTCAGCCGTCCCCCTCCTCAGCCGT CCCCCCCG	MLXIP	ENSG00000175727.15	transcript	ENST00000319080.12	protein_coding	1/16			chr12	TogoVar
MMD2_chr7_4900998_4964187	4945185	T T	TTTCTTCT others(29): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01516.hp2 HG01517.hp2 others(3): Show HG01167.hp1 HG01516.hp2 HG01517.hp2 HG04115.hp1 NA18612.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0312 a0001c0001t0002g0282 a0001c0001t0002g0283 others(3): Show a0001c0001t0001g0312 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0004g0265 a0001c0001t0004g0281 a0001c0002t0001g0029	6	382	0.0157	36	c.47+ others(53): Show c.47+13750_47+13785dupGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAA	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	1/6			chr7	TogoVar
MMEL1_chr1_2585639_2638016	2602312	G G	GGGCGATT others(29): Show GGGCGATTCTGAACATCATAAATGCATTGTAAACCAA	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0129 a0002c0017t0001g0129	1	343	0.0029	36	c.104 others(55): Show c.1041+1536_1041+1571dupTTGGTTTACAATGCATTTATGATGTT CAGAATCGCC	MMEL1	ENSG00000142606.16	transcript	ENST00000378412.8	protein_coding	11/23			chr1	TogoVar
MMP17_chr12_131823393_131856771	131827366	G G	GGGGGGGG others(29): Show GGGGGGGGGGGGGGGGGGGGGAGGGGGGGGGTGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	398	0.0025	36	c.-11 others(47): Show c.-1129_-1128insGGGGGGGGGGGGGGGGGGGGAGGGGGGGGGTGGG GT	MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding		1026		chr12	TogoVar
MMP17_chr12_131823393_131856771	131832134	C C	CGGGAAGG others(29): Show CGGGAAGGGGGAAGGCTGGAGAGGATCTGGGGGGGAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02809.hp1 HG02809.hp2 others(5): Show HG02486.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp2 HG03041.hp1 HG03225.hp2 HG03579.hp2 NA19240.hp1	a0003 a0004 a0003 a0004	a0003c0006 a0003c0032 a0004c0005 a0003c0006 a0003c0032 a0004c0005	a0003c0006t0002 a0003c0006t0004 a0003c0032t0001 others(2): Show a0003c0006t0002 a0003c0006t0004 a0003c0032t0001 a0004c0005t0001 a0004c0005t0004	a0003c0006t0002g0181 a0003c0006t0002g0183 a0003c0006t0004g0182 others(5): Show a0003c0006t0002g0181 a0003c0006t0002g0183 a0003c0006t0004g0182 a0003c0032t0001g0184 a0004c0005t0001g0177 a0004c0005t0001g0178 a0004c0005t0001g0179 a0004c0005t0004g0180	8	398	0.0201	36	c.159 others(53): Show c.159+3517_159+3552dupAGGGAAGGGGGAAGGCTGGAGAGGATCT GGGGGGGA	MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
MMP19_chr12_55830433_55847936	55846469	G G	GTGTGTAT others(29): Show GTGTGTATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02717.hp2 HG03098.hp1 others(1): Show HG02486.hp2 HG02717.hp2 HG03098.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0009 a0001c0002t0001g0004 a0002c0003t0001g0019 a0001c0001t0001g0009 a0001c0002t0001g0004 a0002c0003t0001g0019	4	414	0.0097	36	c.-36 others(47): Show c.-3640_-3639insTATATATATATATATATATATATATATATATACA CA	MMP19	ENSG00000123342.16	transcript	ENST00000322569.9	protein_coding		3534		chr12	TogoVar
MMP19_chr12_55830433_55847936	55846469	G G	GTGTGTGT others(29): Show GTGTGTGTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0099 a0001c0004t0011g0099	1	414	0.0024	36	c.-36 others(47): Show c.-3640_-3639insTATATATATATATATATATATATATATATACACA CA	MMP19	ENSG00000123342.16	transcript	ENST00000322569.9	protein_coding		3534		chr12	TogoVar
MMP19_chr12_55830433_55847936	55846469	G G	GTGTGTGT others(29): Show GTGTGTGTGTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG02572.hp1 HG02965.hp1 others(1): Show HG01175.hp2 HG02572.hp1 HG02965.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0025	4	414	0.0097	36	c.-36 others(47): Show c.-3640_-3639insTATATATATATATATATATATATATATACACACA CA	MMP19	ENSG00000123342.16	transcript	ENST00000322569.9	protein_coding		3534		chr12	TogoVar
MMP19_chr12_55830433_55847936	55846469	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG03017.hp1 NA18990.hp2 HG01934.hp2 HG03017.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0002g0015 a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0002g0015	3	414	0.0073	36	c.-36 others(47): Show c.-3640_-3639insTATATATATATATATATATATATATACACACACA CA	MMP19	ENSG00000123342.16	transcript	ENST00000322569.9	protein_coding		3534		chr12	TogoVar
MMP20_chr11_102571832_102630332	102629485	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	446	0.0022	36	c.-41 others(47): Show c.-4167_-4166insGTATATATATATATATATATATATATATATATAT AT	MMP20	ENSG00000137674.4	transcript	ENST00000260228.3	protein_coding		4154		chr11	TogoVar
MMP26_chr11_4699784_4997429	4986905	T T	TTCTCTCT others(29): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0098 a0002c0002t0001g0098	1	206	0.0049	36	c.-14 others(55): Show c.-144-1137_-144-1136insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTC	MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MMP26_chr11_4699784_4997429	4986934	T T	TCTCTCTC others(29): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0154 a0002c0002t0001g0154	1	206	0.0049	36	c.-14 others(55): Show c.-144-1109_-144-1108insTCTCTCTCTCCCTCTCTCTCTCTCTC TCTCTCTCTC	MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACACA others(29): Show CACACACATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0094 a0002c0001t0001g0094	1	382	0.0026	36	c.54 others(47): Show c.5444_*5445insATATATATATATATATATATATATATATATGTGT GT	MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding		4241		chr10	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACATA others(29): Show CACACATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 NA18522.hp2 HG04228.hp2 NA18522.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0227 a0003c0004t0001g0250 a0003c0004t0001g0227 a0003c0004t0001g0250	2	382	0.0052	36	c.54 others(47): Show c.5444_*5445insATATATATATATATATATATATATATATATATGT GT	MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding		4241		chr10	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG04184.hp1 HG00735.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0173 a0001c0001t0001g0174	2	414	0.0048	36	c.226 others(53): Show c.226-3489_226-3488insATATATATATATATATATATATTTTTTT TTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03041.hp2 NA18952.hp2 others(1): Show HG00609.hp1 HG03041.hp2 NA18952.hp2 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 a0001c0001t0001 a0001c0001t0006 a0002c0002t0001	a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0006g0170 others(1): Show a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0006g0170 a0002c0002t0001g0054	4	414	0.0097	36	c.226 others(53): Show c.226-3489_226-3488insATATATATATATATATATATATATTTTT TTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(29): Show AAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	414	0.0024	36	c.226 others(53): Show c.226-3489_226-3488insATATATATATATATATATATATATATTT TTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(29): Show AAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03834.hp2 HG02040.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0217 a0001c0001t0001g0130 a0001c0001t0001g0217	2	414	0.0048	36	c.226 others(53): Show c.226-3489_226-3488insATATATATATATATATATATATATATAT TTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MOB2_chr11_1464457_1491779	1466268	T T	TACACACA others(29): Show TACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	426	0.0024	36	c.39 others(47): Show c.3903_*3904insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	MOB2	ENSG00000182208.15	transcript	ENST00000329957.7	protein_coding		3188		chr11	TogoVar
MOB3B_chr9_27320209_27534814	27357121	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0250 a0001c0001t0015g0250	1	320	0.0031	36	c.621 others(53): Show c.621+1912_621+1913insATATATATATATATATATATATATATAT ATATATAT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27444246	A A	AGGAAGGA others(29): Show AGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0038 a0001c0001t0080g0038	1	320	0.0031	36	c.418 others(55): Show c.418+10851_418+10886dupCTCCCTCCCTCCCTCCTTCCTTCCTT CCTTCCTTCC	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	2/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27444270	G G	GGGAGGGA others(29): Show GGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG03516.hp2 others(1): Show HG02895.hp2 HG02897.hp1 HG03516.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0065 a0001c0001t0066 others(1): Show a0001c0001t0050 a0001c0001t0065 a0001c0001t0066 a0001c0001t0211	a0001c0001t0050g0007 a0001c0001t0065g0024 a0001c0001t0066g0025 others(1): Show a0001c0001t0050g0007 a0001c0001t0065g0024 a0001c0001t0066g0025 a0001c0001t0211g0313	4	320	0.0125	36	c.418 others(55): Show c.418+10862_418+10863insTTCCTTCCTTCCTTCCTTCCTTCCCT CCCTCCCTCC	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	2/3			chr9	TogoVar

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Search Results (Total: 8848 hits)