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
MAP4K3_chr2_39244266_39442285	39415980	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0004 a0001c0003t0012g0004	1	232	0.0043	29	c.96+ others(46): Show c.96+20911_96+20912insATATATATATATATATATATATTTTTTT T	MAP4K3	ENSG00000011566.15	transcript	ENST00000263881.8	protein_coding	1/33			chr2	TogoVar
MAP4K3_chr2_39244266_39442285	39415980	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18959.hp1 NA18953.hp1 NA18959.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0217 a0001c0003t0004g0229 a0001c0003t0004g0217 a0001c0003t0004g0229	2	232	0.0086	29	c.96+ others(46): Show c.96+20911_96+20912insATATATATATATATATATATATATATTT T	MAP4K3	ENSG00000011566.15	transcript	ENST00000263881.8	protein_coding	1/33			chr2	TogoVar
MAP4K3_chr2_39244266_39442285	39415980	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0207 a0001c0002t0001g0207	1	232	0.0043	29	c.96+ others(46): Show c.96+20911_96+20912insATATATATATATATATATATATATATAT T	MAP4K3	ENSG00000011566.15	transcript	ENST00000263881.8	protein_coding	1/33			chr2	TogoVar
MAP4K4_chr2_101692707_101899690	101785745	T T	TCTCTCCC others(22): Show TCTCTCCCTCTCTCTCTCCCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0076 a0001c0001t0010g0076	1	310	0.0032	29	c.124 others(46): Show c.124-4970_124-4969insCCTCTCTCTCTCCCTCTCTCTCTCCTCT C	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP4_chr3_47845695_48021416	47997326	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0016 a0002c0002t0004g0016	1	232	0.0043	29	c.223 others(46): Show c.223+1311_223+1312insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	MAP4	ENSG00000047849.22	transcript	ENST00000683076.1	protein_coding	2/20			chr3	TogoVar
MAP7_chr6_136337734_136555422	136456822	G G	GAAGAAGA others(22): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0054 a0002c0002t0003g0054	1	248	0.0040	29	c.68- others(46): Show c.68-35024_68-35023insTTCTTCTTCTTCTTCTTCTTCTTCTTCT T	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17			chr6	TogoVar
MAPK11_chr22_50258713_50275380	50274657	T T	TCCACCTC others(22): Show TCCACCTCCCCCAGCACCCCTCCCAACCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18947.hp1 NA19082.hp2 NA18942.hp2 NA18947.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0002 a0001c0001t0002g0036 a0001c0001t0009g0090 a0001c0001t0001g0002 a0001c0001t0002g0036 a0001c0001t0009g0090	3	428	0.0070	29	c.-43 others(40): Show c.-4366_-4365insGGGGTTGGGAGGGGTGCTGGGGGAGGTGG	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding		4278		chr22	TogoVar
MAPK11_chr22_50258713_50275380	50274835	T T	TCCCAGCC others(22): Show TCCCAGCCCCCTCCACCTCCCAGCACCACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01106.hp1 HG01515.hp1 others(20): Show HG00673.hp1 HG01106.hp1 HG01515.hp1 HG01934.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02273.hp1 HG03239.hp1 HG03704.hp1 NA18950.hp2 NA18953.hp1 NA18970.hp2 NA18981.hp1 NA18985.hp2 NA18987.hp2 NA18990.hp1 NA18994.hp1 NA19007.hp1 NA19081.hp1 NA19084.hp1 NA19087.hp2 NA20805.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0002 a0001c0001t0003 a0006c0010t0003 a0001c0001t0002 a0001c0001t0003 a0006c0010t0003	a0001c0001t0002g0004 a0001c0001t0002g0062 a0001c0001t0002g0069 others(4): Show a0001c0001t0002g0004 a0001c0001t0002g0062 a0001c0001t0002g0069 a0001c0001t0003g0003 a0001c0001t0003g0037 a0001c0001t0003g0074 a0006c0010t0003g0072	23	428	0.0537	29	c.-45 others(40): Show c.-4544_-4543insGGTGGTGCTGGGAGGTGGAGGGGGCTGGG	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding		4456		chr22	TogoVar
MAPK8IP3_chr16_1701195_1775351	1761452	A A	AGCGGCCA others(22): Show AGCGGCCACCATTCACCATTCACAGGCGGG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0288 a0001c0003t0009g0288	1	330	0.0030	29	c.153 others(46): Show c.1539+203_1539+231dupGGGGCGGCCACCATTCACCATTCACAGG C	MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	13/31		INFO_REALIGN_3_PRIME	chr16	TogoVar
MAPK8IP3_chr16_1701195_1775351	1761597	A A	AGCGGCCA others(22): Show AGCGGCCACCATTCACCATTCACAGGCGGG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0002 a0001c0032t0002	a0001c0032t0002g0206 a0001c0032t0002g0206	1	330	0.0030	29	c.153 others(46): Show c.1539+371_1539+399dupACAGGCGGGGCGGCCACCATTCACCATT C	MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	13/31		INFO_REALIGN_3_PRIME	chr16	TogoVar
MAPKAPK5_chr12_111837228_111907222	111903510	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0207 a0001c0001t0059g0207	1	352	0.0028	29	c.10 others(42): Show c.10449_*10450insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	MAPKAPK5	ENSG00000089022.15	transcript	ENST00000550735.7	protein_coding		1289		chr12	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0263 a0003c0004t0003g0263	1	328	0.0031	29	c.114 others(48): Show c.114+11389_114+11390insAAAAAAATATATATATATATATATAT ATA	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0052 a0003c0004t0003g0052	1	328	0.0031	29	c.114 others(48): Show c.114+11389_114+11390insAAAAATATATATATATATATATATAT ATA	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	328	0.0031	29	c.114 others(48): Show c.114+11389_114+11390insAAATATATATATATATATATATATAT ATA	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPT_chr17_45889554_46033334	45928791	G G	GTTCACAC others(22): Show GTTCACACCATTCTCCTGCCTCAGCCTCCT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0198 a0002c0003t0001g0198	1	253	0.0040	29	c.-17 others(48): Show c.-17-33529_-17-33501dupTTCACACCATTCTCCTGCCTCAGCCT CCT	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAPT_chr17_45889554_46033334	45946615	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02735.hp2 HG00280.hp1 HG02735.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0016 a0003c0004t0004 a0003c0004t0016	a0003c0004t0004g0019 a0003c0004t0016g0007 a0003c0004t0004g0019 a0003c0004t0016g0007	2	253	0.0079	29	c.-17 others(48): Show c.-17-15705_-17-15704insAAAAAAAAATATATATATATATATAT ATA	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MARCHF10_chr17_62696314_62813314	62723559	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03017.hp2 HG03239.hp1 others(1): Show HG00735.hp2 HG03017.hp2 HG03239.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0084 a0001c0001t0001g0188 a0001c0001t0002g0132 others(1): Show a0001c0001t0001g0084 a0001c0001t0001g0188 a0001c0001t0002g0132 a0001c0001t0007g0278	4	280	0.0143	29	c.210 others(46): Show c.2105-963_2105-962insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	MARCHF10	ENSG00000173838.12	transcript	ENST00000311269.10	protein_coding	7/10			chr17	TogoVar
MARCHF3_chr5_126862714_127035558	126866880	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01993.hp1 HG02071.hp1 others(19): Show HG00140.hp2 HG01993.hp1 HG02071.hp1 HG02080.hp2 HG02145.hp1 HG02148.hp1 HG03471.hp2 HG03492.hp2 HG04204.hp2 NA18944.hp2 NA18949.hp2 NA18951.hp2 NA18961.hp2 NA18967.hp1 NA19004.hp2 NA19010.hp2 NA19030.hp2 NA19058.hp1 NA19076.hp2 NA19086.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0030 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0057 a0001c0001t0077 a0001c0001t0099	a0001c0001t0001g0112 a0001c0001t0002g0025 a0001c0001t0002g0168 others(19): Show a0001c0001t0001g0112 a0001c0001t0002g0025 a0001c0001t0002g0168 a0001c0001t0003g0021 a0001c0001t0003g0026 a0001c0001t0003g0038 a0001c0001t0003g0192 a0001c0001t0005g0172 a0001c0001t0007g0095 a0001c0001t0007g0109 a0001c0001t0010g0002 a0001c0001t0012g0047 a0001c0001t0020g0150 a0001c0001t0021g0182 a0001c0001t0026g0050 a0001c0001t0030g0069 a0001c0001t0043g0043 a0001c0001t0044g0013 a0001c0001t0045g0030 a0001c0001t0057g0255 a0001c0001t0077g0067 a0001c0001t0099g0282	22	296	0.0743	29	c.37 others(40): Show c.3752_*3753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding		833		chr5	TogoVar
MARK3_chr14_103380415_103508831	103507768	G G	GTTCCAGG others(22): Show GTTCCAGGCCCTTTCTATAGATTCTCCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	348	0.0029	29	c.45 others(40): Show c.4541_*4542insTTCCAGGCCCTTTCTATAGATTCTCCATT	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding		3938		chr14	TogoVar
MAST2_chr1_45798612_46041122	45888663	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	288	0.0035	29	c.500 others(46): Show c.500+6276_500+6304dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST4_chr5_66591393_67174593	67078927	T T	TATAATAT others(22): Show TATAATATATATATAATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0032 a0001c0039t0032	a0001c0039t0032g0017 a0001c0039t0032g0017	1	108	0.0093	29	c.764 others(48): Show c.764-11232_764-11231insATATATATATAATATATATATATATA ATA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MATCAP2_chr7_36319152_36372240	36343435	G G	GGAGGGGA others(22): Show GGAGGGGAGGGGAGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	388	0.0026	29	c.715 others(46): Show c.715-7139_715-7138insTCCCCTCCCCTCCCCTCTCCCCTCCCCT C	MATCAP2	ENSG00000164542.13	transcript	ENST00000440378.6	protein_coding	2/6			chr7	TogoVar
MATN1_chr1_30706277_30728585	30724656	C C	CGGGGGGT others(22): Show CGGGGGGTTTGGGGGGTTTTGTGGGTTTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0125 a0001c0003t0001g0125	1	440	0.0023	29	c.-11 others(40): Show c.-1106_-1105insACAAACCCACAAAACCCCCCAAACCCCCC	MATN1	ENSG00000162510.6	transcript	ENST00000373765.5	protein_coding		1072		chr1	TogoVar
MATN2_chr8_97864064_98041724	97988171	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02717.hp2 HG02109.hp1 HG02717.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0043 a0001c0014t0002g0044 a0001c0014t0002g0043 a0001c0014t0002g0044	2	318	0.0063	29	c.108 others(48): Show c.1082-6308_1082-6307insAAAAAAAAAAAAATATATATATATAT ATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN3_chr2_19987052_20017668	20010067	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02083.hp1 NA18978.hp2 others(2): Show HG00438.hp2 HG02083.hp1 NA18978.hp2 NA18982.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0002t0002g0057 others(1): Show a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0002t0002g0057 a0001c0002t0002g0278	5	432	0.0116	29	c.223 others(46): Show c.223+2341_223+2342insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	MATN3	ENSG00000132031.13	transcript	ENST00000407540.8	protein_coding	1/7			chr2	TogoVar
MATN4_chr20_45288450_45313299	45305805	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0095 a0001c0014t0001g0095	1	422	0.0024	29	c.-34 others(44): Show c.-34-190_-34-189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	MATN4	ENSG00000124159.17	transcript	ENST00000372756.6	protein_coding	1/9			chr20	TogoVar
MBD3L3_chr19_7051207_7063676	7053860	T T	TTATATTA others(22): Show TTATATTATAATTATATAATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	288	0.0035	29	c.24 others(40): Show c.2461_*2462insTATATATTATATTATATAATTATAATATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		2346		chr19	TogoVar
MBD5_chr2_148016091_148521971	148294500	A A	AGTTTTTT others(22): Show AGTTTTTTTTTTTTTGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	188	0.0053	29	c.-67 others(50): Show c.-679-47700_-679-47699insGTTTTTTTTTTTTTTGTTTTTTTT TTTTT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148294501	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	188	0.0053	29	c.-67 others(50): Show c.-679-47700_-679-47699insGTTTTTTTTTTTTTTTTTTTTTTT TTTTT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148294501	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02257.hp1 HG02055.hp1 HG02109.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0169 a0001c0001t0002g0173 a0001c0001t0002g0174	3	188	0.0160	29	c.-67 others(50): Show c.-679-47693_-679-47692insTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148296864	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	188	0.0053	29	c.-67 others(50): Show c.-679-45330_-679-45329insTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBIP_chr14_36293564_36325637	36294279	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0031 a0002c0002t0002g0031	1	312	0.0032	29	c.48 others(40): Show c.4803_*4804insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MBIP	ENSG00000151332.20	transcript	ENST00000416007.9	protein_coding		4284		chr14	TogoVar
MBNL2_chr13_97217333_97399120	97291900	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02523.hp1 HG02735.hp1 others(4): Show HG02040.hp1 HG02523.hp1 HG02735.hp1 HG03471.hp2 NA18522.hp2 NA18948.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0132 a0001c0001t0001g0207 a0001c0001t0001g0209 others(4): Show a0001c0001t0001g0132 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0002g0013 a0001c0001t0002g0038 a0001c0001t0002g0139 a0001c0001t0002g0166	7	254	0.0276	29	c.174 others(48): Show c.174+15508_174+15509insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBOAT1_chr6_20094684_20217469	20168499	G G	GAGAGAGA others(22): Show GAGAGAGAAGAGAGGAGAGGAGAGGAGAGA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0099 a0001c0001t0004g0099	1	336	0.0030	29	c.100 others(48): Show c.100-15731_100-15730insTCTCTCCTCTCCTCTCCTCTCTTCTC TCT	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT4_chr8_30126671_30149665	30143347	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0053 a0001c0005t0001g0053	1	380	0.0026	29	c.119 others(46): Show c.119+1135_119+1136insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	MBOAT4	ENSG00000177669.4	transcript	ENST00000320542.4	protein_coding	1/2			chr8	TogoVar
MBP_chr18_76973833_77137783	76975223	T T	TTTTCTTT others(22): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp1 NA19005.hp2 NA18992.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0026 a0001c0001t0010 a0001c0001t0026	a0001c0001t0010g0021 a0001c0001t0026g0376 a0001c0001t0010g0021 a0001c0001t0026g0376	2	396	0.0051	29	c.52 others(40): Show c.5203_*5204insGAAAAGAAAAGAAAAGAAAAGAAAAGAAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding		3609		chr18	TogoVar
MBP_chr18_76973833_77137783	77081825	C C	CACACACA others(22): Show CACACACATATATATACACACACTATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02293.hp2 HG02486.hp1 others(3): Show HG02258.hp2 HG02293.hp2 HG02486.hp1 HG02572.hp2 HG02886.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0029 a0001c0001t0045 a0001c0002t0029	a0001c0001t0001g0112 a0001c0001t0004g0091 a0001c0001t0006g0329 others(3): Show a0001c0001t0001g0112 a0001c0001t0004g0091 a0001c0001t0006g0329 a0001c0001t0029g0394 a0001c0001t0045g0304 a0001c0002t0029g0393	6	396	0.0152	29	c.52- others(46): Show c.52-15441_52-15440insATATATAGTGTGTGTATATATATGTGTG T	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	2/8			chr18	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0123 a0001c0001t0123	a0001c0001t0123g0216 a0001c0001t0123g0216	1	340	0.0029	29	c.41 others(40): Show c.4153_*4154insATATATATATATATATATTTTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 NA18963.hp1 NA18983.hp1 others(1): Show HG02083.hp1 NA18963.hp1 NA18983.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0137 a0001c0001t0146 others(1): Show a0001c0001t0054 a0001c0001t0137 a0001c0001t0146 a0001c0001t0154	a0001c0001t0054g0280 a0001c0001t0137g0307 a0001c0001t0146g0273 others(1): Show a0001c0001t0054g0280 a0001c0001t0137g0307 a0001c0001t0146g0273 a0001c0001t0154g0325	4	340	0.0118	29	c.41 others(40): Show c.4153_*4154insATATATATATATATATATATTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0278 a0001c0001t0106g0278	1	340	0.0029	29	c.41 others(40): Show c.4153_*4154insATATATATATATATATATATATTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0324 a0001c0001t0021g0324	1	340	0.0029	29	c.41 others(40): Show c.4153_*4154insATATATATATATATATATATATATTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51190750	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	340	0.0029	29	c.176 others(48): Show c.1768+1452_1768+1453insATATATATATATATATATATATATTT TTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	16/16			chr17	TogoVar
MBTD1_chr17_51172425_51265049	51194566	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0069 a0001c0001t0008g0069	1	340	0.0029	29	c.137 others(46): Show c.1372+647_1372+648insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	13/16			chr17	TogoVar
MBTPS1_chr16_84048763_84121942	84050900	T T	TGCAAGGC others(22): Show TGCAAGGCCCACATGTGGGTAAGGAGAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG01884.hp1 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0252 a0001c0001t0023g0253 a0001c0001t0023g0252 a0001c0001t0023g0253	2	424	0.0047	29	c.35 others(40): Show c.3548_*3549insCGCTCTCCTTACCCACATGTGGGCCTTGC	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2862		chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84051060	G G	GTAAGGAG others(22): Show GTAAGGAGAGCTACAAGGCCCGCATGTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00558.hp1 others(101): Show HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01081.hp1 HG01168.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02132.hp2 HG02148.hp2 HG02258.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02970.hp2 HG02976.hp2 HG03225.hp1 HG03490.hp1 HG03540.hp2 HG03710.hp1 HG03834.hp1 HG04199.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19070.hp2 NA19077.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19091.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0012 others(2): Show a0001c0001 a0001c0002 a0001c0012 a0001c0018 a0008c0017	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(11): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0016 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0040 a0001c0002t0001 a0001c0002t0009 a0001c0002t0016 a0001c0012t0044 a0001c0018t0001 a0008c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(96): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0203 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0007g0050 a0001c0001t0007g0077 a0001c0001t0009g0013 a0001c0001t0009g0275 a0001c0001t0009g0280 a0001c0001t0009g0285 a0001c0001t0016g0390 a0001c0001t0025g0369 a0001c0001t0025g0387 a0001c0001t0026g0201 a0001c0001t0028g0090 a0001c0001t0040g0279 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0009g0306 a0001c0002t0016g0384 a0001c0002t0016g0385 a0001c0012t0044g0396 a0001c0018t0001g0100 a0008c0017t0001g0177	104	424	0.2453	29	c.33 others(40): Show c.3388_*3389insAGCACATGCGGGCCTTGTAGCTCTCCTTA	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2702		chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84051077	G G	GCCGCATG others(22): Show GCCGCATGTGGGTAAGGAGAGCTGCAAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03139.hp1 others(2): Show HG02896.hp2 HG02897.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0286 a0001c0002t0009g0287 a0001c0002t0009g0288 others(2): Show a0001c0002t0009g0286 a0001c0002t0009g0287 a0001c0002t0009g0288 a0001c0002t0009g0289 a0001c0002t0009g0290	5	424	0.0118	29	c.33 others(40): Show c.3371_*3372insGCCTTGCAGCTCTCCTTACCCACATGCGG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2685		chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84051201	G G	GTAAGGAG others(22): Show GTAAGGAGAGCTACAAGGCCCGCATGTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(72): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00609.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02040.hp2 HG02132.hp1 HG02148.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02630.hp2 HG02886.hp1 HG02976.hp1 HG03017.hp2 HG03209.hp2 HG03669.hp1 HG03831.hp1 HG04204.hp1 HG04228.hp2 NA18747.hp2 NA18940.hp1 NA18942.hp2 NA18946.hp1 NA18950.hp1 NA18953.hp1 NA18959.hp1 NA18962.hp1 NA18965.hp1 NA18972.hp1 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18982.hp2 NA18984.hp1 NA18992.hp2 NA18993.hp1 NA18999.hp1 NA19000.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19056.hp2 NA19062.hp2 NA19066.hp1 NA19070.hp1 NA19072.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19082.hp2 NA19087.hp1 NA20300.hp1 NA20300.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0019 a0003c0022 a0007c0015	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0020 a0001c0001t0033 a0001c0002t0004 a0001c0002t0009 a0001c0003t0003 a0001c0003t0007 a0001c0003t0043 a0001c0019t0005 a0003c0022t0011 a0007c0015t0003	a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0051 others(67): Show a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0005g0019 a0001c0001t0005g0307 a0001c0001t0005g0308 a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0311 a0001c0001t0005g0312 a0001c0001t0005g0313 a0001c0001t0005g0314 a0001c0001t0005g0315 a0001c0001t0005g0316 a0001c0001t0005g0317 a0001c0001t0005g0318 a0001c0001t0005g0319 a0001c0001t0005g0320 a0001c0001t0005g0322 a0001c0001t0005g0324 a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 a0001c0001t0005g0328 a0001c0001t0007g0188 a0001c0001t0020g0024 a0001c0001t0020g0025 a0001c0001t0033g0220 a0001c0002t0004g0296 a0001c0002t0009g0014 a0001c0003t0003g0003 a0001c0003t0003g0020 a0001c0003t0003g0332 a0001c0003t0003g0333 a0001c0003t0003g0334 a0001c0003t0003g0335 a0001c0003t0003g0336 a0001c0003t0003g0338 a0001c0003t0003g0339 a0001c0003t0003g0340 a0001c0003t0003g0341 a0001c0003t0003g0342 a0001c0003t0003g0343 a0001c0003t0003g0346 a0001c0003t0003g0347 a0001c0003t0003g0349 a0001c0003t0003g0350 a0001c0003t0003g0351 a0001c0003t0003g0352 a0001c0003t0003g0353 a0001c0003t0003g0354 a0001c0003t0003g0355 a0001c0003t0003g0356 a0001c0003t0003g0358 a0001c0003t0003g0361 a0001c0003t0003g0364 a0001c0003t0003g0365 a0001c0003t0003g0366 a0001c0003t0007g0028 a0001c0003t0007g0029 a0001c0003t0007g0030 a0001c0003t0043g0344 a0001c0019t0005g0321 a0003c0022t0011g0235 a0007c0015t0003g0345	75	424	0.1769	29	c.32 others(40): Show c.3247_*3248insAGCACATGCGGGCCTTGTAGCTCTCCTTA	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2561		chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84051706	G G	GCATGTGC others(22): Show GCATGTGCGTAAGGACAGCTGCAAGACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 NA18747.hp1 NA18944.hp2 others(8): Show HG01981.hp1 NA18747.hp1 NA18944.hp2 NA18982.hp1 NA18989.hp1 NA18998.hp1 NA19002.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0025 a0001c0001t0040	a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0063 others(8): Show a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0211 a0001c0001t0007g0050 a0001c0001t0009g0285 a0001c0001t0025g0369 a0001c0001t0040g0279	11	424	0.0259	29	c.27 others(40): Show c.2742_*2743insGGGGTCTTGCAGCTGTCCTTACGCACATG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2056		chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84051809	T T	TGCAAGGC others(22): Show TGCAAGGCCCACATGTGGGTAAGGAGAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 NA18984.hp2 HG02273.hp2 NA18984.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0009 a0001c0004t0002g0048 a0001c0004t0002g0009 a0001c0004t0002g0048	2	424	0.0047	29	c.26 others(40): Show c.2639_*2640insCACTCTCCTTACCCACATGTGGGCCTTGC	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		1953		chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84052010	G G	GCAAGGCC others(22): Show GCAAGGCCCGCATGTGGGTAAGGAGAGCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00423.hp1 others(102): Show HG00140.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02040.hp2 HG02080.hp1 HG02132.hp1 HG02148.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02630.hp2 HG02735.hp2 HG02886.hp1 HG02976.hp1 HG03017.hp2 HG03209.hp2 HG03453.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18940.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18949.hp2 NA18950.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19056.hp2 NA19062.hp2 NA19063.hp1 NA19070.hp1 NA19072.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19082.hp2 NA19087.hp1 NA20300.hp1 NA20300.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0012	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0019 a0003c0022 a0007c0015 a0012c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0020 a0001c0001t0033 a0001c0001t0041 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0002t0010 a0001c0002t0013 a0001c0003t0003 a0001c0003t0007 a0001c0003t0043 a0001c0007t0003 a0001c0019t0005 a0003c0022t0011 a0007c0015t0003 a0012c0023t0003	a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0051 others(96): Show a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0065 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0003g0393 a0001c0001t0005g0019 a0001c0001t0005g0307 a0001c0001t0005g0308 a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0311 a0001c0001t0005g0312 a0001c0001t0005g0313 a0001c0001t0005g0314 a0001c0001t0005g0315 a0001c0001t0005g0316 a0001c0001t0005g0317 a0001c0001t0005g0318 a0001c0001t0005g0319 a0001c0001t0005g0320 a0001c0001t0005g0322 a0001c0001t0005g0324 a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 a0001c0001t0005g0328 a0001c0001t0007g0188 a0001c0001t0007g0217 a0001c0001t0007g0218 a0001c0001t0007g0219 a0001c0001t0011g0258 a0001c0001t0012g0237 a0001c0001t0020g0024 a0001c0001t0020g0025 a0001c0001t0033g0220 a0001c0001t0041g0330 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0373 a0001c0002t0003g0374 a0001c0002t0003g0375 a0001c0002t0003g0377 a0001c0002t0003g0379 a0001c0002t0003g0380 a0001c0002t0003g0381 a0001c0002t0003g0382 a0001c0002t0003g0383 a0001c0002t0003g0386 a0001c0002t0003g0388 a0001c0002t0003g0389 a0001c0002t0004g0296 a0001c0002t0009g0014 a0001c0002t0010g0244 a0001c0002t0010g0245 a0001c0002t0013g0184 a0001c0002t0013g0185 a0001c0002t0013g0186 a0001c0003t0003g0003 a0001c0003t0003g0020 a0001c0003t0003g0332 a0001c0003t0003g0333 a0001c0003t0003g0334 a0001c0003t0003g0335 a0001c0003t0003g0336 a0001c0003t0003g0338 a0001c0003t0003g0339 a0001c0003t0003g0340 a0001c0003t0003g0341 a0001c0003t0003g0342 a0001c0003t0003g0343 a0001c0003t0003g0346 a0001c0003t0003g0347 a0001c0003t0003g0349 a0001c0003t0003g0350 a0001c0003t0003g0351 a0001c0003t0003g0352 a0001c0003t0003g0353 a0001c0003t0003g0354 a0001c0003t0003g0355 a0001c0003t0003g0356 a0001c0003t0003g0358 a0001c0003t0003g0360 a0001c0003t0003g0361 a0001c0003t0003g0363 a0001c0003t0003g0364 a0001c0003t0003g0365 a0001c0003t0003g0366 a0001c0003t0007g0028 a0001c0003t0007g0029 a0001c0003t0007g0030 a0001c0003t0043g0344 a0001c0007t0003g0359 a0001c0007t0003g0362 a0001c0019t0005g0321 a0003c0022t0011g0235 a0007c0015t0003g0345 a0012c0023t0003g0378	105	424	0.2476	29	c.24 others(40): Show c.2438_*2439insTAGCTCTCCTTACCCACATGCGGGCCTTG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		1752		chr16	TogoVar

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