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
MAPK9_chr5_180228143_180297083	180292820	GGCTCACG others(15): Show GGCTCACGCCTGTAATCCTAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	372	0.0027	-22	c.-10 others(33): Show c.-1042_-1021delTTCTAGGATTACAGGCGTGAGC	MAPK9	ENSG00000050748.18	transcript	ENST00000452135.7	protein_coding		738		chr5	TogoVar
MAPKAP1_chr9_125432394_125712208	125698278	AATATATA others(15): Show AATATATATAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	300	0.0033	-22	c.-70 others(39): Show c.-70+8671_-70+8692delATATATATATATTTATATATAT	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	1/11			chr9	TogoVar
MAPKAP1_chr9_125432394_125712208	125698288	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0211 a0001c0002t0018g0211	1	300	0.0033	-22	c.-70 others(39): Show c.-70+8661_-70+8682delATATATATATATATATATATAT	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	1/11			chr9	TogoVar
MAPKAPK5_chr12_111837228_111907222	111875382	TTTTTTTT others(15): Show TTTTTTTTAAAATTTAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0068 a0001c0001t0087g0068	1	352	0.0028	-22	c.579 others(39): Show c.579+4215_579+4236delTTAAAAAAAATTTTTTTAAAAT	MAPKAPK5	ENSG00000089022.15	transcript	ENST00000550735.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
MAPRE2_chr18_35036413_35148470	35077247	GCGCACAC others(15): Show GCGCACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18522.hp2 HG02886.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0235 a0001c0001t0002g0236	2	370	0.0054	-22	c.250 others(39): Show c.250+6927_250+6948delGCACACACACACACACACACAC	MAPRE2	ENSG00000166974.13	transcript	ENST00000300249.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
MAPT_chr17_45889554_46033334	45897994	ATTACTGT others(15): Show ATTACTGTATAAGCTGCTTATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01074.hp1 others(18): Show HG00140.hp1 HG00280.hp1 HG01074.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp2 HG01255.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01952.hp2 HG02109.hp1 HG02257.hp1 HG02602.hp1 HG02735.hp2 HG02738.hp1 HG03239.hp1 HG03704.hp1 HG04199.hp2 NA19085.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0011 a0003c0004t0015 others(1): Show a0003c0004t0004 a0003c0004t0011 a0003c0004t0015 a0003c0004t0016	a0003c0004t0004g0001 a0003c0004t0004g0003 a0003c0004t0004g0004 others(18): Show a0003c0004t0004g0001 a0003c0004t0004g0003 a0003c0004t0004g0004 a0003c0004t0004g0005 a0003c0004t0004g0006 a0003c0004t0004g0008 a0003c0004t0004g0009 a0003c0004t0004g0010 a0003c0004t0004g0011 a0003c0004t0004g0012 a0003c0004t0004g0013 a0003c0004t0004g0016 a0003c0004t0004g0017 a0003c0004t0004g0018 a0003c0004t0004g0019 a0003c0004t0004g0020 a0003c0004t0004g0021 a0003c0004t0011g0002 a0003c0004t0011g0015 a0003c0004t0015g0014 a0003c0004t0016g0007	21	253	0.0830	-22	c.-18 others(39): Show c.-18+3322_-18+3343delTGCTTATATTTACTGTATAAGC	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAPT_chr17_45889554_46033334	45956548	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03453.hp2 NA18962.hp1 others(1): Show HG03139.hp1 HG03453.hp2 NA18962.hp1 NA19030.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0002c0018 others(1): Show a0001c0001 a0002c0002 a0002c0018 a0008c0009	a0001c0001t0003 a0002c0002t0017 a0002c0018t0002 others(1): Show a0001c0001t0003 a0002c0002t0017 a0002c0018t0002 a0008c0009t0009	a0001c0001t0003g0105 a0002c0002t0017g0112 a0002c0018t0002g0081 others(1): Show a0001c0001t0003g0105 a0002c0002t0017g0112 a0002c0018t0002g0081 a0008c0009t0009g0107	4	253	0.0158	-22	c.-17 others(39): Show c.-17-5741_-17-5720delATATATATATATATATATATAT	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MARCHF1_chr4_163519718_164389019	163620596	CACACACA others(15): Show CACACACACACAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG03041.hp2 HG02257.hp2 HG02258.hp1 HG03041.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0003t0005 a0002c0004t0029 a0002c0003t0001 a0002c0003t0005 a0002c0004t0029	a0002c0003t0001g0027 a0002c0003t0005g0045 a0002c0004t0029g0047 a0002c0003t0001g0027 a0002c0003t0005g0045 a0002c0004t0029g0047	3	102	0.0294	-22	c.163 others(39): Show c.163-7225_163-7204delCTCTCTCTCTCTGTGTGTGTGT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	5/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163733205	ATATATAT others(15): Show ATATATATATATATATACACGTG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02027.hp1 HG02027.hp2 others(3): Show HG00741.hp1 HG02027.hp1 HG02027.hp2 HG02735.hp2 NA19009.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0004 a0001c0001t0009 a0001c0001t0020 others(1): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0020 a0002c0004t0003	a0001c0001t0004g0056 a0001c0001t0004g0090 a0001c0001t0009g0033 others(3): Show a0001c0001t0004g0056 a0001c0001t0004g0090 a0001c0001t0009g0033 a0001c0001t0009g0088 a0001c0001t0020g0070 a0002c0004t0003g0077	6	102	0.0588	-22	c.112 others(41): Show c.112-32364_112-32343delCACGTGTATATATATATATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163828014	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0028 a0001c0001t0021g0028	1	102	0.0098	-22	c.111 others(41): Show c.111+25985_111+26006delGTGTGTGTGTGTGTGTGTGTGT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164199663	CACACACA others(15): Show CACACACACACACACACACAGAG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03579.hp1 HG04115.hp2 others(2): Show HG02280.hp1 HG03579.hp1 HG04115.hp2 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0013 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0017 a0001c0001t0020 a0001c0002t0003	a0001c0001t0001g0044 a0001c0001t0013g0018 a0001c0001t0017g0039 others(2): Show a0001c0001t0001g0044 a0001c0001t0013g0018 a0001c0001t0017g0039 a0001c0001t0020g0070 a0001c0002t0003g0096	5	102	0.0490	-22	c.-32 others(43): Show c.-322-88023_-322-88002delCTCTGTGTGTGTGTGTGTGTGT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164346604	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03041.hp1 NA18906.hp2 HG02523.hp1 HG03041.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0022 a0001c0002t0028 a0002c0003t0010 a0001c0001t0022 a0001c0002t0028 a0002c0003t0010	a0001c0001t0022g0040 a0001c0002t0028g0099 a0002c0003t0010g0058 a0001c0001t0022g0040 a0001c0002t0028g0099 a0002c0003t0010g0058	3	102	0.0294	-22	c.-32 others(43): Show c.-323+37244_-323+37265delTATATATATATATATATATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF6_chr5_10348695_10445388	10435631	CTATATAA others(15): Show CTATATAACTATATATATATATA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp1 HG01978.hp2 HG01496.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0098 a0001c0001t0086 a0001c0001t0098	a0001c0001t0086g0032 a0001c0001t0098g0015 a0001c0001t0086g0032 a0001c0001t0098g0015	2	284	0.0070	-22	c.19 others(33): Show c.1954_*1975delACTATATATATATATATATATA	MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding	26/26	1954	INFO_REALIGN_3_PRIME	chr5	TogoVar
MARCHF6_chr5_10348695_10445388	10435677	ATATATAT others(15): Show ATATATATATATATATATATATT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0042 a0001c0001t0054g0042	1	284	0.0035	-22	c.19 others(33): Show c.1995_*2016delATATATATATATATATATATTT	MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding	26/26	1995	INFO_REALIGN_3_PRIME	chr5	TogoVar
MARCKS_chr6_113852345_113868475	113863789	CATATATA others(15): Show CATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 NA20905.hp2 HG02735.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0042 a0001c0001t0003 a0001c0001t0042	a0001c0001t0003g0001 a0001c0001t0042g0002 a0001c0001t0003g0001 a0001c0001t0042g0002	2	442	0.0045	-22	c.32 others(33): Show c.3211_*3232delATATATATATATATATATATAT	MARCKS	ENSG00000277443.3	transcript	ENST00000612661.2	protein_coding		315		chr6	TogoVar
MARF1_chr16_15589387_15648154	15596484	AAAAAGAA others(15): Show AAAAAGAAAGAAAAAGGAAGAAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0276 a0001c0001t0022g0276	1	393	0.0025	-22	c.18 others(31): Show c.187_*208delCTTCTTCCTTTTTCTTTCTTTT	MARF1	ENSG00000166783.22	transcript	ENST00000396368.8	protein_coding	27/27	187		chr16	TogoVar
MARK3_chr14_103380415_103508831	103403326	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0327 a0002c0002t0001g0327	1	348	0.0029	-22	c.52- others(37): Show c.52-1724_52-1703delGTGTGTGTGTGTGTGTGTGTGT	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARK3_chr14_103380415_103508831	103508476	TGACCTCG others(15): Show TGACCTCGTGATCCTCCCGCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0107 a0001c0001t0015g0107	1	348	0.0029	-22	c.52 others(33): Show c.5250_*5271delGACCTCGTGATCCTCCCGCCTC	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding		4646		chr14	TogoVar
MAST3_chr19_18092778_18156687	18104179	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0291 a0001c0003t0006g0291	1	296	0.0034	-22	c.40- others(37): Show c.40-3389_40-3368delAAAAAAAAAAAAAAAAAAAAAA	MAST3	ENSG00000099308.13	transcript	ENST00000687212.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST4_chr5_66591393_67174593	66767170	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0028 a0002c0005t0028	a0002c0005t0028g0074 a0002c0005t0028g0074	1	108	0.0093	-22	c.517 others(39): Show c.517+7334_517+7355delTGTGTGTGTGTGTGTGTGTGTG	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	66825261	GACACACA others(15): Show GACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01168.hp1 HG01255.hp1 others(13): Show HG00323.hp1 HG01168.hp1 HG01255.hp1 HG02027.hp1 HG02486.hp1 HG02738.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 NA18950.hp1 NA18950.hp2 NA19090.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0008 a0011 a0020	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0009 a0001c0022 a0002c0005 a0002c0013 a0003c0004 a0005c0006 a0008c0010 a0011c0028 a0020c0018	a0001c0001t0006 a0001c0001t0009 a0001c0002t0005 others(12): Show a0001c0001t0006 a0001c0001t0009 a0001c0002t0005 a0001c0003t0001 a0001c0008t0007 a0001c0009t0002 a0001c0022t0008 a0002c0005t0010 a0002c0013t0017 a0003c0004t0002 a0005c0006t0004 a0005c0006t0005 a0008c0010t0022 a0011c0028t0003 a0020c0018t0002	a0001c0001t0006g0078 a0001c0001t0009g0042 a0001c0002t0005g0038 others(13): Show a0001c0001t0006g0078 a0001c0001t0009g0042 a0001c0002t0005g0038 a0001c0002t0005g0055 a0001c0003t0001g0102 a0001c0008t0007g0001 a0001c0009t0002g0013 a0001c0022t0008g0092 a0002c0005t0010g0030 a0002c0013t0017g0007 a0003c0004t0002g0021 a0005c0006t0004g0048 a0005c0006t0005g0037 a0008c0010t0022g0064 a0011c0028t0003g0033 a0020c0018t0002g0019	16	108	0.1482	-22	c.642 others(41): Show c.642+36499_642+36520delCACACACACACACACACACACA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	3/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	66844139	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0007 a0003c0019t0007	a0003c0019t0007g0026 a0003c0019t0007g0026	1	108	0.0093	-22	c.642 others(41): Show c.642+55383_642+55404delGTGTGTGTGTGTGTGTGTGTGT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	3/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	66919956	CCTTCCTT others(15): Show CCTTCCTTCCTTCCTTCCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02622.hp2 NA18522.hp2 HG02055.hp2 HG02622.hp2 NA18522.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0007c0014 a0001c0002 a0007c0014	a0001c0002t0001 a0001c0002t0003 a0007c0014t0007 a0001c0002t0001 a0001c0002t0003 a0007c0014t0007	a0001c0002t0001g0097 a0001c0002t0003g0039 a0007c0014t0007g0012 a0001c0002t0001g0097 a0001c0002t0003g0039 a0007c0014t0007g0012	3	108	0.0278	-22	c.674 others(41): Show c.674+19975_674+19996delCTTCCTTCCTTCCTTCCTTCTT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	4/28			chr5	TogoVar
MAT2B_chr5_163500619_163524354	163505183	GAGCTCTA others(15): Show GAGCTCTAGAGATGTGTCCATTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01167.hp1 HG01169.hp2 others(10): Show HG00639.hp2 HG01167.hp1 HG01169.hp2 HG02630.hp1 HG02976.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp1 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0027	13	370	0.0351	-22	c.-50 others(31): Show c.-503_-482delAGCTCTAGAGATGTGTCCATTA	MAT2B	ENSG00000038274.18	transcript	ENST00000321757.11	protein_coding		435		chr5	TogoVar
MATCAP1_chr16_67170599_67188963	67176054	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03453.hp2 HG03654.hp1 HG04115.hp1 HG03453.hp2 HG03654.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0014 a0001c0005t0014 a0001c0001t0014 a0001c0005t0014	a0001c0001t0014g0082 a0001c0005t0014g0031 a0001c0001t0014g0082 a0001c0005t0014g0031	3	308	0.0097	-22	c.73 others(31): Show c.735_*756delACACACACACACACACACACAC	MATCAP1	ENSG00000196123.13	transcript	ENST00000563902.2	protein_coding	7/7	735		chr16	TogoVar
MATN2_chr8_97864064_98041724	98037382	CTATGTAT others(15): Show CTATGTATATGTATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02970.hp2 HG03486.hp1 HG02615.hp2 HG02970.hp2 HG03486.hp1	a0012 a0021 a0012 a0021	a0012c0052 a0012c0053 a0021c0045 a0012c0052 a0012c0053 a0021c0045	a0012c0052t0008 a0012c0053t0008 a0021c0045t0008 a0012c0052t0008 a0012c0053t0008 a0021c0045t0008	a0012c0052t0008g0122 a0012c0053t0008g0124 a0021c0045t0008g0113 a0012c0052t0008g0122 a0012c0053t0008g0124 a0021c0045t0008g0113	3	318	0.0094	-22	c.16 others(33): Show c.1671_*1692delTATGTATATGTATATATATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding		659		chr8	TogoVar
MATN4_chr20_45288450_45313299	45294327	TGCTCATT others(15): Show TGCTCATTGGAATCATCAGGAGA	T T	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0070 a0002c0004t0003g0070	1	422	0.0024	-22	c.158 others(39): Show c.1580-334_1580-313delTCTCCTGATGATTCCAATGAGC	MATN4	ENSG00000124159.17	transcript	ENST00000372756.6	protein_coding	8/9			chr20	TogoVar
MATR3_chr5_139288740_139336677	139332439	ATAACTTG others(15): Show ATAACTTGCACTAGGACAGAAGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0205 a0001c0001t0021g0205	1	282	0.0036	-22	c.30 others(33): Show c.3045_*3066delTAACTTGCACTAGGACAGAAGC	MATR3	ENSG00000015479.20	transcript	ENST00000394805.8	protein_coding		763		chr5	TogoVar
MAU2_chr19_19315829_19363754	19356452	AACACGGG others(15): Show AACACGGGTGTGCATGTGGATGC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG01496.hp2 HG00323.hp1 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0298 a0001c0002t0027g0299 a0001c0002t0027g0298 a0001c0002t0027g0299	2	344	0.0058	-22	c.68 others(31): Show c.683_*704delATGTGGATGCACACGGGTGTGC	MAU2	ENSG00000129933.21	transcript	ENST00000262815.13	protein_coding	19/19	683	INFO_REALIGN_3_PRIME	chr19	TogoVar
MAX_chr14_65070127_65107517	65089756	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	2	382	0.0052	-22	c.171 others(39): Show c.171+3930_171+3951delTTTTTTTTTTTTTTTTTTTTTT	MAX	ENSG00000125952.21	transcript	ENST00000358664.9	protein_coding	3/4			chr14	TogoVar
MB21D2_chr3_192791815_192922856	192828591	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA18962.hp1 NA18972.hp1 others(2): Show HG00099.hp2 NA18962.hp1 NA18972.hp1 NA19001.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0183 a0001c0001t0001g0212 a0001c0001t0002g0056 others(2): Show a0001c0001t0001g0183 a0001c0001t0001g0212 a0001c0001t0002g0056 a0001c0001t0002g0122 a0001c0001t0002g0147	5	298	0.0168	-22	c.212 others(41): Show c.212-28963_212-28942delATATATATATATATATATATAT	MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1			chr3	TogoVar
MBD3L3_chr19_7051207_7063676	7062377	TTATATTA others(15): Show TTATATTATAATATATAATTATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	288	0.0035	-22	c.-37 others(33): Show c.-3794_-3773delTATAATTATATATTATAATATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3702		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7031142	AACTTACT others(15): Show AACTTACTTATATCTGATATTCC	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0021 a0002c0008t0001g0021	1	249	0.0040	-22	c.45+ others(35): Show c.45+489_45+510delTTACTTATATCTGATATTCCAC	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr19	TogoVar
MBD5_chr2_148016091_148521971	148389251	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18984.hp2 NA19007.hp1 NA18522.hp2 NA18984.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0036 a0001c0001t0001g0130 a0001c0001t0002g0179 a0001c0001t0001g0036 a0001c0001t0001g0130 a0001c0001t0002g0179	3	188	0.0160	-22	c.-55 others(43): Show c.-557+46947_-557+46968delTATATATATATATATATATATA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBNL1_chr3_152263929_152470780	152286438	TTATATTT others(15): Show TTATATTTTATTTATAATATAAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02630.hp2 others(11): Show HG02055.hp2 HG02451.hp1 HG02630.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03471.hp2 HG03579.hp1 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0026	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 others(11): Show a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0179 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0002g0101 a0001c0001t0007g0174 a0001c0001t0007g0175 a0001c0001t0026g0100	14	338	0.0414	-22	c.-78 others(43): Show c.-789-12919_-789-12898delATTTTATTTATAATATAAATAT	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL1_chr3_152263929_152470780	152332719	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	338	0.0030	-22	c.174 others(41): Show c.174+32354_174+32375delTGTGTGTGTGTGTGTGTGTGCG	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL2_chr13_97217333_97399120	97233126	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02523.hp1 HG03831.hp1 others(2): Show HG02486.hp2 HG02523.hp1 HG03831.hp1 NA18950.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0034 a0001c0001t0001g0132 a0001c0001t0002g0103 others(2): Show a0001c0001t0001g0034 a0001c0001t0001g0132 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0004g0172	5	254	0.0197	-22	c.-60 others(43): Show c.-605+10624_-605+10645delATATATATATATATATATATAT	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL2_chr13_97217333_97399120	97363418	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0117 a0001c0001t0011g0117	1	254	0.0039	-22	c.101 others(41): Show c.1013-1693_1013-1672delTGTGTGTGTGTGTGTGTGTGTG	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL3_chrX_132364320_132494038	132396383	TATATATA others(15): Show TATATATATTCCTATATATATTC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0109 a0001c0001t0010g0109	1	191	0.0052	-22	c.343 others(39): Show c.343-4071_343-4050delGAATATATATAGGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396455	TATATATA others(15): Show TATATATATTCCTATATATATTC	T T	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	191	0.0052	-22	c.343 others(39): Show c.343-4143_343-4122delGAATATATATAGGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396500	CTATATAT others(15): Show CTATATATATTCATATATATTCA	C C	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0077	1	191	0.0052	-22	c.343 others(39): Show c.343-4188_343-4167delTGAATATATATGAATATATATA	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBOAT7_chr19_54168415_54194580	54171062	CATATATA others(15): Show CATATATATACATATATATGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0073 a0002c0004t0001g0073	1	373	0.0027	-22	c.29 others(33): Show c.2960_*2981delACACATATATATGTATATATAT	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding		2352		chr19	TogoVar
MBP_chr18_76973833_77137783	76998969	GGGGGGTT others(15): Show GGGGGGTTTAAGAGCAGTGTTTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00738.hp2 others(13): Show HG00140.hp2 HG00642.hp1 HG00738.hp2 HG00741.hp2 HG02109.hp1 HG02300.hp2 HG02647.hp1 HG02717.hp1 HG02886.hp2 HG03209.hp2 HG03453.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG04115.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 others(6): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0001t0024 a0001c0001t0035 a0001c0001t0042 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004	a0001c0001t0002g0330 a0001c0001t0009g0128 a0001c0001t0009g0152 others(13): Show a0001c0001t0002g0330 a0001c0001t0009g0128 a0001c0001t0009g0152 a0001c0001t0011g0140 a0001c0001t0011g0148 a0001c0001t0011g0163 a0001c0001t0011g0206 a0001c0001t0011g0213 a0001c0001t0024g0227 a0001c0001t0035g0203 a0001c0001t0042g0220 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0002g0237 a0001c0002t0002g0249 a0001c0002t0004g0111	16	396	0.0404	-22	c.577 others(39): Show c.577-8931_577-8910delAAAACACTGCTCTTAAACCCCC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	4/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77131073	GCGCACGC others(15): Show GCGCACGCACGCGCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18950.hp1 NA18962.hp2 others(1): Show HG00438.hp1 NA18950.hp1 NA18962.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0007 a0001c0002t0050 a0001c0001t0008 a0001c0002t0007 a0001c0002t0050	a0001c0001t0008g0352 a0001c0001t0008g0353 a0001c0002t0007g0351 others(1): Show a0001c0001t0008g0352 a0001c0001t0008g0353 a0001c0002t0007g0351 a0001c0002t0050g0354	4	396	0.0101	-22	c.-26 others(39): Show c.-26+1485_-26+1506delTGTGTGTGTGCGCGTGCGTGCG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77131075	GCACGCAC others(15): Show GCACGCACGCGCACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp1 others(89): Show HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01175.hp2 HG01192.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01516.hp1 HG01891.hp2 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02056.hp1 HG02083.hp2 HG02135.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02886.hp1 HG02970.hp1 HG03017.hp2 HG03239.hp1 HG03471.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18946.hp1 NA18948.hp2 NA18952.hp1 NA18955.hp2 NA18963.hp1 NA18964.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19011.hp1 NA19057.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0005 others(2): Show a0001c0001 a0001c0002 a0002c0005 a0002c0006 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(29): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0028 a0001c0001t0031 a0001c0001t0033 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0046 a0001c0001t0047 a0001c0001t0051 a0001c0002t0001 a0001c0002t0004 a0001c0002t0007 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0027 a0001c0002t0030 a0001c0002t0052 a0002c0005t0001 a0002c0005t0040 a0002c0006t0001 a0003c0004t0013	a0001c0001t0001g0024 a0001c0001t0001g0044 a0001c0001t0001g0052 others(89): Show a0001c0001t0001g0024 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0087 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0120 a0001c0001t0003g0042 a0001c0001t0003g0051 a0001c0001t0003g0055 a0001c0001t0003g0058 a0001c0001t0003g0066 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0114 a0001c0001t0003g0117 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0131 a0001c0001t0003g0201 a0001c0001t0004g0043 a0001c0001t0004g0047 a0001c0001t0004g0050 a0001c0001t0004g0053 a0001c0001t0004g0057 a0001c0001t0004g0067 a0001c0001t0004g0091 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0119 a0001c0001t0004g0130 a0001c0001t0004g0132 a0001c0001t0004g0199 a0001c0001t0004g0217 a0001c0001t0005g0300 a0001c0001t0006g0312 a0001c0001t0006g0327 a0001c0001t0007g0348 a0001c0001t0008g0349 a0001c0001t0009g0041 a0001c0001t0009g0065 a0001c0001t0009g0118 a0001c0001t0009g0128 a0001c0001t0010g0068 a0001c0001t0010g0123 a0001c0001t0010g0125 a0001c0001t0016g0350 a0001c0001t0028g0389 a0001c0001t0031g0113 a0001c0001t0033g0090 a0001c0001t0036g0200 a0001c0001t0038g0059 a0001c0001t0039g0105 a0001c0001t0046g0331 a0001c0001t0047g0332 a0001c0001t0051g0387 a0001c0002t0001g0019 a0001c0002t0001g0056 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0110 a0001c0002t0001g0127 a0001c0002t0004g0111 a0001c0002t0007g0347 a0001c0002t0010g0198 a0001c0002t0011g0129 a0001c0002t0012g0197 a0001c0002t0027g0390 a0001c0002t0030g0093 a0001c0002t0052g0388 a0002c0005t0001g0126 a0002c0005t0040g0202 a0002c0006t0001g0116 a0003c0004t0013g0115	92	396	0.2323	-22	c.-26 others(39): Show c.-26+1483_-26+1504delTGTGTGTGTGTGCGCGTGCGTG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MBTD1_chr17_51172425_51265049	51179482	TTTTATAT others(15): Show TTTTATATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0065 a0001c0002t0065	a0001c0002t0065g0016 a0001c0002t0065g0016	1	340	0.0029	-22	c.10 others(33): Show c.1072_*1093delTATATATATATATATATATAAA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1072		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51197041	GATATATA others(15): Show GATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01069.hp2 HG01261.hp2 others(7): Show HG00323.hp2 HG01069.hp2 HG01261.hp2 HG02523.hp2 HG02698.hp1 HG03453.hp2 NA18957.hp1 NA18959.hp1 NA18984.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0041 a0001c0001t0105	a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0002g0159 others(7): Show a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0004g0136 a0001c0001t0024g0142 a0001c0001t0025g0110 a0001c0001t0026g0135 a0001c0001t0041g0174 a0001c0001t0105g0232	10	340	0.0294	-22	c.122 others(41): Show c.1225-1702_1225-1681delATATATATATATATATATATAT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	12/16			chr17	TogoVar
MCAT_chr22_43127209_43148398	43144675	CTGTAATC others(15): Show CTGTAATCGCAGCACTTTGGGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	418	0.0024	-22	c.-13 others(33): Show c.-1349_-1328delCTCCCAAAGTGCTGCGATTACA	MCAT	ENSG00000100294.13	transcript	ENST00000290429.11	protein_coding		1278		chr22	TogoVar
MCAT_chr22_43127209_43148398	43145058	AAGAGATA others(15): Show AAGAGATATTTAAAGATATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	418	0.0024	-22	c.-17 others(33): Show c.-1732_-1711delATTTATATCTTTAAATATCTCT	MCAT	ENSG00000100294.13	transcript	ENST00000290429.11	protein_coding		1661		chr22	TogoVar
MCCC2_chr5_71582340_71663706	71633091	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02896.hp2 HG03041.hp1 others(7): Show HG02717.hp1 HG02896.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0003 a0001c0001t0004 a0001c0002t0003	a0001c0001t0004g0195 a0001c0001t0004g0206 a0001c0001t0004g0236 others(7): Show a0001c0001t0004g0195 a0001c0001t0004g0206 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0242 a0001c0002t0003g0224 a0001c0002t0003g0254	10	350	0.0286	-22	c.803 others(37): Show c.803+926_803+947delATATATATATATATATATATAT	MCCC2	ENSG00000131844.17	transcript	ENST00000340941.11	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr5	TogoVar

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