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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MARCHF1_chr4_163519718_164389019	163894910	T T	TATACATG others(31): Show TATACATGCATGTGATGCATATATACATGCATGTGATGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02735.hp1 HG03486.hp1 others(5): Show HG02055.hp2 HG02735.hp1 HG03486.hp1 HG03540.hp2 HG04115.hp1 NA18984.hp1 NA19009.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0002c0004	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0001c0002t0003 a0001c0008t0012 a0002c0004t0003	a0001c0001t0001g0038 a0001c0001t0001g0085 a0001c0001t0005g0029 others(5): Show a0001c0001t0001g0038 a0001c0001t0001g0085 a0001c0001t0005g0029 a0001c0002t0002g0094 a0001c0002t0003g0004 a0001c0008t0012g0026 a0002c0004t0003g0077 a0002c0004t0003g0086	8	102	0.0784	38	c.-38 others(57): Show c.-38-40742_-38-40741insGCATCACATGCATGTATATATGCATC ACATGCATGTAT		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9						chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164340405	T T	TTTTATAT others(31): Show TTTTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0092 a0001c0002t0002g0092	1	102	0.0098	38	c.-32 others(59): Show c.-323+43464_-323+43465insTATATATATATATATATATATATA TATATATATATAAA		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9						chr4	TogoVar
MARCHF3_chr5_126862714_127035558	126866880	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	296	0.0034	38	c.37 others(49): Show c.3752_*3753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding					833		chr5	TogoVar
MARCO_chr2_118937194_118999660	118941621	G G	GGGGGGGT others(31): Show GGGGGGGTCATGGGGGCATGTGGGGTGGGGGTGGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	394	0.0025	38	c.-68 others(47): Show c.-680_-679insGGGGGGTCATGGGGGCATGTGGGGTGGGGGTGGGGA GT		MARCO	ENSG00000019169.11	transcript	ENST00000327097.5	protein_coding					572		chr2	TogoVar
MAST3_chr19_18092778_18156687	18093344	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0006 a0001c0003t0007g0006	1	296	0.0034	38	c.-44 others(49): Show c.-4449_-4448insTATATATATATATATATATATATATATATATATA TATG		MAST3	ENSG00000099308.13	transcript	ENST00000687212.1	protein_coding					4433		chr19	TogoVar
MAST4_chr5_66591393_67174593	66837023	C C	CGTGTGTG others(31): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0077 a0001c0003t0001g0077	1	108	0.0093	38	c.642 others(57): Show c.642+48229_642+48230insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT		MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	3/28						chr5	TogoVar
MAST4_chr5_66591393_67174593	67078914	A A	AAATAAAT others(31): Show AAATAAATATATATATAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0007 a0001c0035t0007	a0001c0035t0007g0009 a0001c0035t0007g0009	1	108	0.0093	38	c.764 others(57): Show c.764-11248_764-11247insAATAAATATATATATAATATATATAT ATATATATATAT		MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	5/28						chr5	TogoVar
MATN2_chr8_97864064_98041724	97988189	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG03209.hp2 HG02257.hp1 HG02559.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0021 a0001c0025 a0002c0078 a0001c0021 a0001c0025 a0002c0078	a0001c0021t0011 a0001c0025t0011 a0002c0078t0013 a0001c0021t0011 a0001c0025t0011 a0002c0078t0013	a0001c0021t0011g0244 a0001c0025t0011g0039 a0002c0078t0013g0101 a0001c0021t0011g0244 a0001c0025t0011g0039 a0002c0078t0013g0101	3	318	0.0094	38	c.108 others(57): Show c.1082-6290_1082-6289insTATATATATATATATATATATATATA TACACACACACA		MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	98037392	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 NA18941.hp2 NA19010.hp2 HG03471.hp2 NA18941.hp2 NA19010.hp2	a0001 a0024 a0001 a0024	a0001c0002 a0024c0064 a0001c0002 a0024c0064	a0001c0002t0001 a0024c0064t0001 a0001c0002t0001 a0024c0064t0001	a0001c0002t0001g0102 a0001c0002t0001g0231 a0024c0064t0001g0038 a0001c0002t0001g0102 a0001c0002t0001g0231 a0024c0064t0001g0038	3	318	0.0094	38	c.16 others(49): Show c.1680_*1681insTATATATATATATATATATATATATATATATATA TATA		MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding					669		chr8	TogoVar
MATN2_chr8_97864064_98041724	98037392	G G	GTATGTAT others(31): Show GTATGTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0014 a0014	a0014c0062 a0014c0062	a0014c0062t0001 a0014c0062t0001	a0014c0062t0001g0239 a0014c0062t0001g0239	1	318	0.0031	38	c.16 others(49): Show c.1680_*1681insTATGTATATATATATATATATATATATATATATA TATA		MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding					669		chr8	TogoVar
MATN4_chr20_45288450_45313299	45305805	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02630.hp1 HG02895.hp1 others(2): Show HG01106.hp1 HG02630.hp1 HG02895.hp1 HG03579.hp1 NA19030.hp2	a0003 a0004 a0003 a0004	a0003c0002 a0004c0005 a0003c0002 a0004c0005	a0003c0002t0001 a0004c0005t0002 a0003c0002t0001 a0004c0005t0002	a0003c0002t0001g0208 a0003c0002t0001g0209 a0004c0005t0002g0030 a0003c0002t0001g0208 a0003c0002t0001g0209 a0004c0005t0002g0030	5	422	0.0119	38	c.-34 others(53): Show c.-34-190_-34-189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA		MATN4	ENSG00000124159.17	transcript	ENST00000372756.6	protein_coding	1/9						chr20	TogoVar
MBD2_chr18_54146606_54229669	54227024	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0035 a0001c0001t0008g0035	1	300	0.0033	38	c.-24 others(49): Show c.-2466_-2465insTTATATATATATATATATATATATATATATATAT ATAT		MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding					2356		chr18	TogoVar
MBD3L3_chr19_7051207_7063676	7053545	A A	ATTTATAT others(31): Show ATTTATATGTTATATAATTATATTATATATATATAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0029 a0002c0002t0003g0029	1	288	0.0035	38	c.27 others(49): Show c.2776_*2777insATATTATATATATATAATATAATTATATAACATA TAAA		MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding					2661		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035370	A A	ATATTATA others(31): Show ATATTATATATACTATATAATATAATAAATTATTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0002 a0011c0020t0002	a0011c0020t0002g0043 a0011c0020t0002g0043	1	262	0.0038	38	c.24 others(49): Show c.2490_*2491insAATATAATAATTTATTATATTATATAGTATATAT AATA		MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding					2378		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035653	A A	AATATATA others(31): Show AATATATATAATTATATAATATATAAATTATATTTTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	262	0.0038	38	c.22 others(49): Show c.2207_*2208insATTAAAATATAATTTATATATTATATAATTATAT ATAT		MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding					2095		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035713	T T	TATATAAA others(31): Show TATATAAATTATATTATATATATAATATAATTATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03540.hp1 HG03225.hp2 HG03540.hp1	a0003 a0010 a0003 a0010	a0003c0003 a0010c0016 a0003c0003 a0010c0016	a0003c0003t0002 a0010c0016t0002 a0003c0003t0002 a0010c0016t0002	a0003c0003t0002g0003 a0010c0016t0002g0026 a0003c0003t0002g0003 a0010c0016t0002g0026	2	262	0.0076	38	c.21 others(49): Show c.2147_*2148insGTTATATAATTATATTATATATATAATATAATTT ATAT		MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding					2035		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7040131	G G	GGTTCTCA others(31): Show GGTTCTCACCAGAAGCAGGTGGCTCGGCAAGGGTGACGC	frameshift_variant frameshift_variant	HIGH	HG02135.hp1 HG02135.hp1	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0006 a0012c0021t0006	a0012c0021t0006g0053 a0012c0021t0006g0053	1	262	0.0038	38	c.13_ others(43): Show c.13_14insGCGTCACCCTTGCCGAGCCACCTGCTTCTGGTGAGAAC	p.Ala others(3): Show p.Ala5fs	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding	1/2	48/774	13/627	5/208			chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035713	T T	TATATAAA others(31): Show TATATAAATTATATTATATATATAATATAACTATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0005 a0004c0004t0001g0005	1	249	0.0040	38	c.28 others(49): Show c.2819_*2820insATATAAATTATATTATATATATAATATAACTATA TAAC		MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding					2703		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035713	T T	TATATAAA others(31): Show TATATAAATTATATTATATATATAATATAATTATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0013 a0003c0003t0001g0013	1	249	0.0040	38	c.28 others(49): Show c.2819_*2820insATATAAATTATATTATATATATAATATAATTATA TAAC		MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding					2703		chr19	TogoVar
MBNL2_chr13_97217333_97399120	97291900	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	254	0.0039	38	c.174 others(57): Show c.174+15508_174+15509insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA		MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL3_chrX_132364320_132494038	132396772	A A	ATATATTC others(31): Show ATATATTCATATATATATTCATATATACATATATATATT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0149 a0001c0001t0030g0149	1	191	0.0052	38	c.343 others(55): Show c.343-4439_343-4438insAATATATATATGTATATATGAATATATA TATGAATATA		MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8						chrX	TogoVar
MBOAT2_chr2_8847690_9008684	8912351	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAGAA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	162	0.0062	38	c.300 others(55): Show c.300-3636_300-3635insTTCTCTTTCTTTCTTTCTTTCTTTCTCT TTCTTTCTTT		MBOAT2	ENSG00000143797.12	transcript	ENST00000305997.8	protein_coding	3/12						chr2	TogoVar
MBP_chr18_76973833_77137783	76975154	C C	CCTTTTCT others(31): Show CCTTTTCTTTTCTTTTCTTCTTTTCTTTTCTTTTCTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG02723.hp1 HG04228.hp2 others(8): Show HG01975.hp1 HG02723.hp1 HG04228.hp2 NA18944.hp1 NA18957.hp1 NA18959.hp1 NA18972.hp1 NA18984.hp2 NA18990.hp1 NA19043.hp2 NA19067.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0002c0005 others(1): Show a0001c0001 a0001c0002 a0002c0005 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0001c0002t0020 a0002c0005t0040 a0007c0010t0019	a0001c0001t0001g0027 a0001c0001t0002g0262 a0001c0001t0007g0342 others(8): Show a0001c0001t0001g0027 a0001c0001t0002g0262 a0001c0001t0007g0342 a0001c0002t0001g0056 a0001c0002t0002g0258 a0001c0002t0002g0275 a0001c0002t0002g0297 a0001c0002t0012g0160 a0001c0002t0020g0231 a0002c0005t0040g0202 a0007c0010t0019g0282	11	396	0.0278	38	c.52 others(49): Show c.5272_*5273insAAAAGAAAAGAAAAGAAAAGAAGAAAAGAAAAGA AAAG		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding					3678		chr18	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(31): Show AAAAAAAAAAAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 NA19043.hp2 HG01106.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0108 a0001c0002t0010 a0001c0001t0108 a0001c0002t0010	a0001c0001t0108g0258 a0001c0002t0010g0011 a0001c0001t0108g0258 a0001c0002t0010g0011	2	340	0.0059	38	c.41 others(49): Show c.4153_*4154insATATATATATATATATATATATATATATTTTTTT TTTT		MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding					1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(31): Show AAAAAAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0319 a0001c0001t0046g0319	1	340	0.0029	38	c.41 others(49): Show c.4153_*4154insATATATATATATATATATATATATATATATTTTT TTTT		MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding					1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(31): Show AAAAAAAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0295 a0001c0001t0034g0295	1	340	0.0029	38	c.41 others(49): Show c.4153_*4154insATATATATATATATATATATATATATATATATTT TTTT		MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding					1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179482	T T	TTATATAT others(31): Show TTATATATATATATATATTTTTATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02148.hp2 NA20905.hp2 HG02148.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0255 a0001c0001t0050g0259 a0001c0001t0050g0255 a0001c0001t0050g0259	2	340	0.0059	38	c.10 others(49): Show c.1093_*1094insTATATATATATATATATAAAAATATATATATATA TATA		MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17				1093		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179486	A A	ATATATAT others(31): Show ATATATATATATATATTTATATATATATATATATATATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0302 a0001c0001t0104g0302	1	340	0.0029	38	c.10 others(49): Show c.1089_*1090insAATATATATATATATATATATAAATATATATATA TATA		MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17				1089		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179486	A A	ATATATAT others(31): Show ATATATATATATATTTTTATATATATATATATATATATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0200 a0001c0001t0103g0200	1	340	0.0029	38	c.10 others(49): Show c.1089_*1090insAATATATATATATATATATATAAAAATATATATA TATA		MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17				1089		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51190750	A A	AAAAAAAA others(31): Show AAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0264 a0001c0001t0012g0264	1	340	0.0029	38	c.176 others(57): Show c.1768+1452_1768+1453insATATATATATATATATATATATATAT ATATATTTTTTT		MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	16/16						chr17	TogoVar
MBTPS2_chrX_21834617_21890423	21862933	C C	CATATATA others(31): Show CATATATATATAAACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0036 a0001c0002t0002g0036	1	308	0.0033	38	c.671 others(55): Show c.671-5523_671-5522insAACATATATATATATATATATATATATA TATATATATA		MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	5/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	428	0.0023	38	c.-25 others(49): Show c.-2544_-2543insAAAAAATATATATATATATATATATATATATATA TATA		MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding					2118		chr18	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02965.hp2 HG02258.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	428	0.0047	38	c.-25 others(49): Show c.-2544_-2543insAAAAAAAAAAAATATATATATATATATATATATA TATA		MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding					2118		chr18	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	428	0.0023	38	c.-25 others(49): Show c.-2544_-2543insAAAAAAAAAAAAAATATATATATATATATATATA TATA		MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding					2118		chr18	TogoVar
MCF2L2_chr3_183173041_183433619	183298765	G G	GCGCGCGC others(31): Show GCGCGCGCGCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA20300.hp2 HG02559.hp2 NA20300.hp2	a0009 a0017 a0009 a0017	a0009c0010 a0017c0017 a0009c0010 a0017c0017	a0009c0010t0007 a0017c0017t0001 a0009c0010t0007 a0017c0017t0001	a0009c0010t0007g0159 a0017c0017t0001g0153 a0009c0010t0007g0159 a0017c0017t0001g0153	2	176	0.0114	38	c.130 others(57): Show c.1305+1239_1305+1240insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGCGCGCGCG		MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	11/29						chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183298765	G G	GCGCGCGC others(31): Show GCGCGCGCGCGCGCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0002 a0012c0011t0002	a0012c0011t0002g0031 a0012c0011t0002g0031	1	176	0.0057	38	c.130 others(57): Show c.1305+1239_1305+1240insTGTGTGTGTGTGTGTGTGTGTGTGTG CGCGCGCGCGCG		MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	11/29						chr3	TogoVar
MCM9_chr6_118808455_118940159	118893931	A A	AGCCACGC others(31): Show AGCCACGCCTCCCCGCCGCGGCCACGCCTCCCCGCCGCG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0146 a0001c0002t0003g0146	1	348	0.0029	38	c.115 others(59): Show c.1150+17718_1150+17719insCGCGGCGGGGAGGCGTGGCCGCGG CGGGGAGGCGTGGC		MCM9	ENSG00000111877.18	transcript	ENST00000619706.5	protein_coding	8/13						chr6	TogoVar
MCOLN1_chr19_7517624_7539009	7518557	G G	GAGAGAGA others(31): Show GAGAGAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01943.hp2 HG02004.hp2 others(1): Show HG01167.hp2 HG01943.hp2 HG02004.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0046 a0001c0001t0001g0006 a0001c0001t0001g0046	4	414	0.0097	38	c.-41 others(49): Show c.-4194_-4193insAGAGAGAAAGAAAGAAAGAAAAAGAAAGAAAGAA AGAA		MCOLN1	ENSG00000090674.16	transcript	ENST00000264079.11	protein_coding					4066		chr19	TogoVar
MCOLN2_chr1_84920583_85002113	84922438	G G	GTGTGTGT others(31): Show GTGTGTGTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0058	1	350	0.0029	38	c.42 others(49): Show c.4246_*4247insTATATATATATATATATATATATATATATATACA CACA		MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding					3144		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84922438	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA19062.hp2 NA19068.hp1 NA18960.hp2 NA19062.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0303 a0001c0001t0007g0135 a0001c0001t0007g0144 a0001c0001t0002g0303 a0001c0001t0007g0135 a0001c0001t0007g0144	3	350	0.0086	38	c.42 others(49): Show c.4246_*4247insTATATATATATATATACACACACACACACACACA CACA		MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding					3144		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84922438	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0295 a0001c0001t0006g0295	1	350	0.0029	38	c.42 others(49): Show c.4246_*4247insTATATATATATATACACACACACACACACACACA CACA		MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding					3144		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84922462	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0155 a0001c0001t0004g0155	1	350	0.0029	38	c.42 others(49): Show c.4222_*4223insAAAAAATATATATATATATATATATATATATATA TATA		MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding					3120		chr1	TogoVar
MCRIP1_chr17_81817361_81838291	81818524	T T	TGTGCGTG others(31): Show TGTGCGTGCGCGCCAACACTACACAGCAGATAGTGACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 NA18965.hp2 HG02602.hp1 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	366	0.0055	38	c.47 others(49): Show c.4722_*4723insGTGTCACTATCTGCTGTGTAGTGTTGGCGCGCAC GCAC		MCRIP1	ENSG00000225663.8	transcript	ENST00000455127.7	protein_coding					3836		chr17	TogoVar
MCRIP1_chr17_81817361_81838291	81818563	G G	GTGCGTGC others(31): Show GTGCGTGCACACCAACAGTACCCAGCAGATAGTGACATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG03579.hp2 HG02895.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	2	366	0.0055	38	c.46 others(49): Show c.4683_*4684insTATGTCACTATCTGCTGGGTACTGTTGGTGTGCA CGCA		MCRIP1	ENSG00000225663.8	transcript	ENST00000455127.7	protein_coding					3797		chr17	TogoVar
MCRIP1_chr17_81817361_81838291	81818601	A A	ATGCGTGC others(31): Show ATGCGTGCACGCCAACACTACACAGCAGATAGTGACTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	366	0.0027	38	c.46 others(49): Show c.4645_*4646insCAAGTCACTATCTGCTGTGTAGTGTTGGCGTGCA CGCA		MCRIP1	ENSG00000225663.8	transcript	ENST00000455127.7	protein_coding					3759		chr17	TogoVar
MCRIP1_chr17_81817361_81838291	81818737	C C	CATAGTGA others(31): Show CATAGTGACTTGTGTGTGCACGCCAACACTACACGGCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01074.hp1 HG01175.hp2 others(19): Show HG00558.hp2 HG01074.hp1 HG01175.hp2 HG02015.hp2 HG02071.hp1 HG02451.hp1 HG02647.hp2 HG02738.hp2 HG02922.hp1 HG03098.hp2 HG03471.hp1 NA18522.hp1 NA18906.hp1 NA18956.hp2 NA18959.hp1 NA18988.hp2 NA18992.hp1 NA19060.hp2 NA19065.hp1 NA19066.hp2 NA19240.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0033 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0152 a0001c0001t0001g0162 a0002c0002t0001g0139	22	366	0.0601	38	c.45 others(49): Show c.4509_*4510insCTGCCGTGTAGTGTTGGCGTGCACACACAAGTCA CTAT		MCRIP1	ENSG00000225663.8	transcript	ENST00000455127.7	protein_coding					3623		chr17	TogoVar
MCRIP1_chr17_81817361_81838291	81819107	C C	CTACACGG others(31): Show CTACACGGCAGATAGTGACTTGTGTGTGCACGCCAACAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	366	0.0027	38	c.41 others(49): Show c.4139_*4140insCTGTTGGCGTGCACACACAAGTCACTATCTGCCG TGTA		MCRIP1	ENSG00000225663.8	transcript	ENST00000455127.7	protein_coding					3253		chr17	TogoVar
MCRIP1_chr17_81817361_81838291	81819281	T T	TGTGCACA others(31): Show TGTGCACACCAACAGTACACAGCAGATAGTGACATGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	366	0.0027	38	c.39 others(49): Show c.3965_*3966insGCGCATGTCACTATCTGCTGTGTACTGTTGGTGT GCAC		MCRIP1	ENSG00000225663.8	transcript	ENST00000455127.7	protein_coding					3079		chr17	TogoVar
MCRIP1_chr17_81817361_81838291	81819295	G G	GTACACAG others(31): Show GTACACAGCAGATAGTGACATGCGCGTGCACACCAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	366	0.0027	38	c.39 others(49): Show c.3951_*3952insGTGTTGGTGTGCACGCGCATGTCACTATCTGCTG TGTA		MCRIP1	ENSG00000225663.8	transcript	ENST00000455127.7	protein_coding					3065		chr17	TogoVar
MCTP1_chr5_94698690_95290094	94947577	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0039 a0002c0008t0002g0039	1	98	0.0102	38	c.982 others(55): Show c.982-5151_982-5150insCTCTCTCTCTATATATATATATATATAT ATATATATAT		MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	3/22						chr5	TogoVar

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