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
MSH6_chr2_47778145_47811953	47788913	T T	TTTTTTTT others(24): Show TTTTTTTTGTTTTTTTTTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	390	0.0026	31	c.261 others(48): Show c.261-2007_261-2006insGTTTTTTTTTTTTGTTTTGTTTTGTTTT TTT	MSH6	ENSG00000116062.19	transcript	ENST00000234420.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSI2_chr17_57251523_57689689	57583488	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0161 a0001c0001t0034g0161	1	168	0.0060	31	c.455 others(50): Show c.455-13361_455-13360insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	MSI2	ENSG00000153944.12	transcript	ENST00000284073.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSL1_chr17_40116971_40141917	40140349	C C	CACACACA others(24): Show CACACACACACACACACCAACACACACACCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0022 a0001c0002t0003g0022	1	356	0.0028	31	c.59 others(42): Show c.5980_*5981insACACACACACACACACCAACACACACACCAA	MSL1	ENSG00000188895.12	transcript	ENST00000398532.9	protein_coding		3433		chr17	TogoVar
MSLN_chr16_755734_773862	767509	C C	CCGTGGAG others(24): Show CCGTGGAGGAGGGGCGAGTGGGAGGAGGGGCG	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19089.hp1 NA18995.hp2 NA19089.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0025 a0005c0005t0001g0033 a0005c0005t0001g0025 a0005c0005t0001g0033	2	388	0.0052	31	c.159 others(46): Show c.1596+48_1596+78dupAGGGGCGAGTGGGAGGAGGGGCGCGTGGAG G	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767867	A A	AGGGGGCG others(24): Show AGGGGGCGCGTGGAGGGGGGGGCGAGTGGAGG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0214 a0002c0003t0004g0214	1	388	0.0026	31	c.159 others(48): Show c.1596+401_1596+402insGCGCGTGGAGGGGGGGGCGAGTGGAGGG GGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSN_chrX_65662654_65746931	65664026	C C	CATCCAGC others(24): Show CATCCAGCCTCCTGTGTGCACGCCACTGCACT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	170	0.0059	31	c.-38 others(42): Show c.-3816_-3815insATCCAGCCTCCTGTGTGCACGCCACTGCACT	MSN	ENSG00000147065.18	transcript	ENST00000360270.7	protein_coding		3627		chrX	TogoVar
MSRB3_chr12_65273683_65471907	65396700	A A	AAGAAAGA others(24): Show AAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0074 a0001c0001t0009g0074	1	312	0.0032	31	c.292 others(50): Show c.292+27675_292+27676insGAAAGAAAGAAAGAAAGAAAGAAAAG AAAGA	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MSTO1_chr1_155605218_155619951	155609243	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	398	0.0025	31	c.-10 others(42): Show c.-1006_-1005insTATATATATATATATATATATATATATATAT	MSTO1	ENSG00000125459.18	transcript	ENST00000245564.8	protein_coding		974		chr1	TogoVar
MSTO1_chr1_155605218_155619951	155609244	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	398	0.0025	31	c.-10 others(42): Show c.-1005_-1004insATATATATATATATATATATATATATATATA	MSTO1	ENSG00000125459.18	transcript	ENST00000245564.8	protein_coding		973		chr1	TogoVar
MT4_chr16_56560073_56573957	56566819	A A	AAAGAAGG others(24): Show AAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0371 a0001c0001t0001g0371	1	428	0.0023	31	c.32- others(44): Show c.32-930_32-929insGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MT4_chr16_56560073_56573957	56568271	G G	GAGAGAGA others(24): Show GAGAGAGAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	428	0.0023	31	c.97+ others(44): Show c.97+458_97+459insGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTA3_chr2_42563632_42761946	42577105	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0049 a0001c0001t0007g0049	1	312	0.0032	31	c.97- others(46): Show c.97-2001_97-2000insAAATATATATATATATATATATATATATAT A	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTA3_chr2_42563632_42761946	42594726	A A	ACATATAT others(24): Show ACATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00733.hp1 HG00738.hp1 others(1): Show HG00597.hp1 HG00733.hp1 HG00738.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0136 a0001c0001t0001g0145 a0001c0001t0003g0023 others(1): Show a0001c0001t0001g0136 a0001c0001t0001g0145 a0001c0001t0003g0023 a0001c0001t0003g0119	4	312	0.0128	31	c.191 others(50): Show c.191-14732_191-14731insCATATATATATATATATATATATATA TTTTT	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16			chr2	TogoVar
MTA3_chr2_42563632_42761946	42594726	A A	ACATATAT others(24): Show ACATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG01257.hp1 others(8): Show HG00639.hp1 HG01074.hp2 HG01257.hp1 HG01346.hp2 HG01934.hp1 HG02300.hp2 HG03831.hp1 NA18945.hp1 NA18956.hp2 NA19074.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0103 a0001c0001t0001g0128 a0001c0001t0001g0129 others(8): Show a0001c0001t0001g0103 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0141 a0001c0001t0001g0153 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0005g0131 a0001c0001t0005g0254 a0001c0001t0005g0262	11	312	0.0353	31	c.191 others(50): Show c.191-14732_191-14731insCATATATATATATATATATATATATT TTTTT	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16			chr2	TogoVar
MTA3_chr2_42563632_42761946	42594726	A A	ACATATAT others(24): Show ACATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01978.hp1 HG04204.hp2 others(1): Show HG00099.hp1 HG01978.hp1 HG04204.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0232 others(1): Show a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0232 a0001c0001t0005g0133	4	312	0.0128	31	c.191 others(50): Show c.191-14732_191-14731insCATATATATATATATATATATATTTT TTTTT	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16			chr2	TogoVar
MTA3_chr2_42563632_42761946	42594728	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	312	0.0032	31	c.191 others(50): Show c.191-14729_191-14728insATATATATATATATATATATATATTT TTTTT	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTCH2_chr11_47612317_47647559	47633526	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp1 HG01884.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	2	370	0.0054	31	c.369 others(48): Show c.369+1145_369+1146insATATATATATATATATATATATATATAT ATA	MTCH2	ENSG00000109919.10	transcript	ENST00000302503.8	protein_coding	5/12			chr11	TogoVar
MTCH2_chr11_47612317_47647559	47633526	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0049 a0002c0002t0001g0049	1	370	0.0027	31	c.369 others(48): Show c.369+1145_369+1146insAAATATATATATATATATATATATATAT ATA	MTCH2	ENSG00000109919.10	transcript	ENST00000302503.8	protein_coding	5/12			chr11	TogoVar
MTCH2_chr11_47612317_47647559	47633527	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01074.hp1 NA18959.hp2 others(3): Show HG01071.hp1 HG01074.hp1 NA18959.hp2 NA19004.hp1 NA19009.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0219 a0002c0002t0001g0034 a0002c0002t0001g0055 others(3): Show a0001c0001t0003g0219 a0002c0002t0001g0034 a0002c0002t0001g0055 a0002c0002t0001g0062 a0002c0002t0001g0080 a0002c0002t0001g0081	6	370	0.0162	31	c.369 others(48): Show c.369+1144_369+1145insTATATATATATATATATATATATATATA TAT	MTCH2	ENSG00000109919.10	transcript	ENST00000302503.8	protein_coding	5/12			chr11	TogoVar
MTCL1_chr18_8700556_8837778	8805102	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0005 a0005	a0005c0040 a0005c0040	a0005c0040t0001 a0005c0040t0001	a0005c0040t0001g0046 a0005c0040t0001g0046	1	336	0.0030	31	c.351 others(50): Show c.3517-1791_3517-1790insTATATATATATATATATATATATATA TATAT	MTCL1	ENSG00000168502.18	transcript	ENST00000695636.1	protein_coding	9/14			chr18	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19091.hp2 NA18612.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0067 a0001c0001t0001g0055 a0001c0001t0001g0067	2	370	0.0054	31	c.104 others(50): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAAAAAAAAATATAT ATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18998.hp2 NA19007.hp1 HG01109.hp1 NA18998.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0036 a0001c0002t0074 a0001c0001t0001 a0001c0001t0036 a0001c0002t0074	a0001c0001t0001g0057 a0001c0001t0036g0085 a0001c0002t0074g0211 a0001c0001t0001g0057 a0001c0001t0036g0085 a0001c0002t0074g0211	3	370	0.0081	31	c.104 others(50): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAAAAAAATATATAT ATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	370	0.0027	31	c.104 others(50): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAAAAATATATATAT ATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18990.hp2 NA19081.hp1 NA18946.hp2 NA18990.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0088 a0001c0002t0003 a0001c0001t0088 a0001c0002t0003	a0001c0001t0088g0019 a0001c0002t0003g0209 a0001c0002t0003g0230 a0001c0001t0088g0019 a0001c0002t0003g0209 a0001c0002t0003g0230	3	370	0.0081	31	c.104 others(50): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAAATATATATATAT ATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0238 a0001c0002t0003g0238	1	370	0.0027	31	c.104 others(50): Show c.1049-2624_1049-2623insAAAAAAAAAAAAATATATATATATAT ATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0240 a0001c0002t0021g0240	1	370	0.0027	31	c.104 others(50): Show c.1049-2624_1049-2623insAAAAAAAAAAATATATATATATATAT ATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97708264	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0167 a0001c0001t0065g0167	1	370	0.0027	31	c.127 others(50): Show c.1272+1519_1272+1549dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250682	A A	AGAAGAAG others(24): Show AGAAGAAGAAGAAGAGAGAGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	294	0.0034	31	c.677 others(46): Show c.677+223_677+224insCCCTCCCCCTCCCTCTCTCTTCTTCTTCTT C	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250682	A A	AGAAGAAG others(24): Show AGAAGAAGAAGAAGAGGAGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03710.hp1 HG01884.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0217 a0001c0001t0001g0196 a0001c0001t0001g0217	2	294	0.0068	31	c.677 others(46): Show c.677+223_677+224insCCCCTCCCCCTCCCTCCTCTTCTTCTTCTT C	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTF1_chr1_37804574_37864592	37838797	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 NA18953.hp2 HG01993.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0249 a0001c0001t0002g0250	2	376	0.0053	31	c.648 others(44): Show c.648-42_648-41insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	MTF1	ENSG00000188786.10	transcript	ENST00000373036.5	protein_coding	3/10			chr1	TogoVar
MTHFS_chr15_79838547_79902014	79899832	C C	CTCTCGCG others(24): Show CTCTCGCGATATTAAGTGGGCCTACTTCCTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0256 a0001c0001t0005g0256	1	394	0.0025	31	c.-28 others(42): Show c.-2845_-2844insTTAGGAAGTAGGCCCACTTAATATCGCGAGA	MTHFS	ENSG00000136371.11	transcript	ENST00000258874.4	protein_coding		2819		chr15	TogoVar
MTM1_chrX_150563621_150678143	150583409	T T	TTATATAT others(24): Show TTATATATAATTATAAATATATATAAATTATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18957.hp2 NA18522.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0155 a0001c0001t0001g0125 a0001c0001t0001g0155	2	277	0.0072	31	c.-10 others(48): Show c.-10-9191_-10-9190insATAATTATAAATATATATAAATTATATA TAT	MTM1	ENSG00000171100.16	transcript	ENST00000370396.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
MTMR12_chr5_32222007_32317939	32228545	C C	CATATATA others(24): Show CATATATATGTGATATATATATCATATATATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0005 a0001c0001t0027g0005	2	364	0.0055	31	c.12 others(42): Show c.1232_*1233insCATATATATGATATATATATCACATATATAT	MTMR12	ENSG00000150712.11	transcript	ENST00000382142.8	protein_coding	16/16	1232		chr5	TogoVar
MTUS1_chr8_17638802_17806094	17641896	T T	TCCCCGCC others(24): Show TCCCCGCCCCCCCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0011 a0011	a0011c0038 a0011c0038	a0011c0038t0006 a0011c0038t0006	a0011c0038t0006g0170 a0011c0038t0006g0170	1	330	0.0030	31	c.40 others(42): Show c.4029_*4030insGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGG	MTUS1	ENSG00000129422.15	transcript	ENST00000693296.1	protein_coding		1905		chr8	TogoVar
MTUS1_chr8_17638802_17806094	17692748	C C	CATCTGTA others(24): Show CATCTGTACAATAAACTATTTATTGTACAAGA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	330	0.0030	31	c.262 others(50): Show c.2624-8237_2624-8207dupTCTTGTACAATAAATAGTTTATTGTA CAGAT	MTUS1	ENSG00000129422.15	transcript	ENST00000693296.1	protein_coding	6/14			chr8	TogoVar
MTUS2_chr13_28815339_29510947	29071409	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0009 a0003c0003t0003g0009	1	92	0.0109	31	c.244 others(52): Show c.2447-29360_2447-29330dupTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MTX2_chr2_176264442_176343025	176330346	A A	ACTTATAT others(24): Show ACTTATATAGAAAGTATTTCTTATAAGTATTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02083.hp1 NA18747.hp2 others(6): Show HG02040.hp2 HG02083.hp1 NA18747.hp2 NA18954.hp1 NA18955.hp2 NA18965.hp2 NA19009.hp1 NA19086.hp1 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0040 others(6): Show a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0040 a0002c0002t0003g0041 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0046	9	348	0.0259	31	c.544 others(46): Show c.544-189_544-159dupTCTTATAAGTATTTCTTATATAGAAAGTAT T	MTX2	ENSG00000128654.14	transcript	ENST00000249442.11	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
MUC4_chr3_195741771_195816929	195816214	A A	AGCCCGGC others(24): Show AGCCCGGCCTCCGCCCTTCTCCTTACGCAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(3): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00738.hp2 HG01106.hp2 HG01167.hp1	a0026 a0175 a0178 others(3): Show a0026 a0175 a0178 a0179 a0180 a0181	a0026c0009 a0175c0031 a0178c0034 others(3): Show a0026c0009 a0175c0031 a0178c0034 a0179c0032 a0180c0033 a0181c0036	a0026c0009t0002 a0175c0031t0001 a0178c0034t0002 others(3): Show a0026c0009t0002 a0175c0031t0001 a0178c0034t0002 a0179c0032t0002 a0180c0033t0002 a0181c0036t0002	a0026c0009t0002g0192 a0175c0031t0001g0190 a0178c0034t0002g0194 others(3): Show a0026c0009t0002g0192 a0175c0031t0001g0190 a0178c0034t0002g0194 a0179c0032t0002g0193 a0180c0033t0002g0195 a0181c0036t0002g0191	6	249	0.0241	31	c.-43 others(42): Show c.-4398_-4397insATCTGCGTAAGGAGAAGGGCGGAGGCCGGGC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding		4286		chr3	TogoVar
MUSK_chr9_110663791_110811558	110689674	T T	TATAATAT others(24): Show TATAATATATAACTATATATAGTTATATATAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(93): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01346.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp1 HG01993.hp1 HG02040.hp1 HG02055.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp1 HG02300.hp1 HG02451.hp1 HG02622.hp1 HG02698.hp2 HG02735.hp2 HG03017.hp2 HG03239.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04228.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18979.hp1 NA18981.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA19004.hp1 NA19004.hp2 NA19010.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19068.hp1 NA19070.hp1 NA19083.hp1 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0014 a0015	a0001c0001 a0001c0002 a0001c0014 others(13): Show a0001c0001 a0001c0002 a0001c0014 a0001c0016 a0002c0004 a0002c0012 a0003c0003 a0004c0006 a0004c0007 a0004c0024 a0005c0005 a0005c0013 a0006c0009 a0009c0025 a0014c0015 a0015c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0030 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0014t0002 a0001c0016t0025 a0002c0004t0005 a0002c0004t0013 a0002c0012t0005 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0014 a0004c0006t0004 a0004c0007t0004 a0004c0024t0010 a0005c0005t0001 a0005c0005t0002 a0005c0005t0003 a0005c0005t0004 a0005c0005t0008 a0005c0013t0008 a0006c0009t0007 a0009c0025t0004 a0014c0015t0003 a0015c0017t0002	a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0034 others(92): Show a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0002g0024 a0001c0001t0002g0030 a0001c0001t0002g0188 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0058 a0001c0001t0003g0187 a0001c0001t0003g0253 a0001c0001t0004g0021 a0001c0001t0006g0004 a0001c0001t0009g0027 a0001c0001t0010g0029 a0001c0001t0010g0040 a0001c0001t0010g0041 a0001c0001t0016g0185 a0001c0001t0016g0186 a0001c0001t0030g0091 a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0002t0001g0116 a0001c0002t0002g0109 a0001c0002t0002g0111 a0001c0002t0003g0048 a0001c0002t0003g0050 a0001c0002t0008g0075 a0001c0002t0008g0114 a0001c0014t0002g0103 a0001c0016t0025g0181 a0002c0004t0005g0046 a0002c0004t0013g0045 a0002c0012t0005g0073 a0003c0003t0001g0079 a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0003t0001g0082 a0003c0003t0001g0183 a0003c0003t0002g0084 a0003c0003t0003g0001 a0003c0003t0004g0083 a0003c0003t0004g0085 a0003c0003t0004g0086 a0003c0003t0004g0087 a0003c0003t0004g0090 a0003c0003t0004g0182 a0003c0003t0004g0298 a0003c0003t0004g0299 a0003c0003t0014g0078 a0004c0006t0004g0110 a0004c0006t0004g0113 a0004c0007t0004g0051 a0004c0024t0010g0042 a0005c0005t0001g0088 a0005c0005t0002g0061 a0005c0005t0002g0063 a0005c0005t0002g0064 a0005c0005t0002g0066 a0005c0005t0002g0070 a0005c0005t0002g0071 a0005c0005t0002g0072 a0005c0005t0002g0115 a0005c0005t0003g0068 a0005c0005t0003g0089 a0005c0005t0004g0006 a0005c0005t0004g0128 a0005c0005t0008g0117 a0005c0005t0008g0118 a0005c0005t0008g0184 a0005c0013t0008g0119 a0005c0013t0008g0120 a0006c0009t0007g0019 a0006c0009t0007g0067 a0006c0009t0007g0069 a0009c0025t0004g0092 a0014c0015t0003g0065 a0015c0017t0002g0112	96	326	0.2945	31	c.358 others(48): Show c.358+2409_358+2410insATATATAACTATATATAGTTATATATAA ATA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MXRA5_chrX_3303565_3351652	3337181	C C	CCTCATCA others(24): Show CCTCATCATTTTAGAAGAATATTCCGTGGTGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0121 a0002c0002t0001g0121	1	284	0.0035	31	c.188 others(48): Show c.188+6434_189-6409dupCCACCACGGAATATTCTTCTAAAATGAT GAG	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	2/6			chrX	TogoVar
MXRA5_chrX_3303565_3351652	3341119	T T	TTATACAT others(24): Show TTATACATAATATATATTATGTATATATTATA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	284	0.0035	31	c.188 others(48): Show c.188+2526_188+2527insTATAATATATACATAATATATATTATGT ATA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	2/6			chrX	TogoVar
MXRA5_chrX_3303565_3351652	3341359	G G	GTATATAT others(24): Show GTATATATAATATATATTATTATTATATATAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0120	1	284	0.0035	31	c.188 others(48): Show c.188+2256_188+2286dupTTATATATAATAATAATATATATTATAT ATA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	2/6			chrX	TogoVar
MXRA5_chrX_3303565_3351652	3341396	A A	ATAATATA others(24): Show ATAATATATATTATTATTATATATAATATATG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01099.hp1 HG01496.hp2 others(16): Show HG00408.hp2 HG01099.hp1 HG01496.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02071.hp1 HG02132.hp1 HG02293.hp2 HG02523.hp1 HG03492.hp1 HG03688.hp1 NA18939.hp1 NA18986.hp1 NA18988.hp1 NA18994.hp1 NA19007.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 others(14): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0085 a0002c0002t0001g0002 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0087	19	284	0.0669	31	c.188 others(48): Show c.188+2219_188+2249dupCATATATTATATATAATAATAATATATA TTA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	2/6			chrX	TogoVar
MXRA5_chrX_3303565_3351652	3341458	G G	GTAATATA others(24): Show GTAATATATATTATTATTATATATAATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	284	0.0035	31	c.188 others(48): Show c.188+2187_188+2188insTATATATTATATATAATAATAATATATA TTA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	2/6			chrX	TogoVar
MXRA5_chrX_3303565_3351652	3341489	G G	GTAATATA others(24): Show GTAATATATATTATTATTATATATAATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03017.hp1 HG03239.hp1 others(2): Show HG02602.hp1 HG03017.hp1 HG03239.hp1 NA18953.hp1 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0023 a0001c0001t0001g0024 a0002c0002t0001g0065 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0002c0002t0001g0065 a0002c0002t0001g0122 a0002c0002t0001g0123	5	284	0.0176	31	c.188 others(48): Show c.188+2126_188+2156dupTATATATTATATATAATAATAATATATA TTA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	2/6			chrX	TogoVar
MYBPC1_chr12_101589971_101691028	101591770	C C	CTCTTCTT others(24): Show CTCTTCTTCTTCTTTTCTTCTTCTTCTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0024 a0001c0005t0002g0024	1	360	0.0028	31	c.-33 others(42): Show c.-3301_-3300insTCTTCTTCTTCTTTTCTTCTTCTTCTCTTCT	MYBPC1	ENSG00000196091.15	transcript	ENST00000361466.7	protein_coding		3200		chr12	TogoVar
MYBPC3_chr11_47326406_47357702	47348927	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0001 a0014c0019t0001	a0014c0019t0001g0260 a0014c0019t0001g0260	1	374	0.0027	31	c.655 others(46): Show c.655-387_655-386insTATATATATATATATATATATATATATATA T	MYBPC3	ENSG00000134571.12	transcript	ENST00000545968.6	protein_coding	5/34			chr11	TogoVar
MYBPH_chr1_203162811_203180826	203178343	G G	GCACTAGG others(24): Show GCACTAGGACTATTGACAGATTTCAGCCCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	464	0.0022	31	c.-25 others(42): Show c.-2589_-2588insGCTGGGCTGAAATCTGTCAATAGTCCTAGTG	MYBPH	ENSG00000133055.10	transcript	ENST00000255416.9	protein_coding		2518		chr1	TogoVar
MYCBPAP_chr17_50503439_50536501	50522709	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02071.hp1 HG01069.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0107 a0001c0001t0001g0086 a0001c0001t0001g0107	2	376	0.0053	31	c.125 others(48): Show c.1258-229_1258-228insAAAAAAAAAAAAAAATATATATATATAT ATA	MYCBPAP	ENSG00000136449.16	transcript	ENST00000323776.11	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYCBPAP_chr17_50503439_50536501	50522709	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA19009.hp1 NA19076.hp1 NA18941.hp1 NA19009.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0346 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0346	3	376	0.0080	31	c.125 others(48): Show c.1258-229_1258-228insAAAAAAAAAAAAATATATATATATATAT ATA	MYCBPAP	ENSG00000136449.16	transcript	ENST00000323776.11	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr17	TogoVar

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