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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
MAST2_chr1_45798612_46041122	45994274	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	288	0.0035	13	c.593 others(30): Show c.593-3437_593-3425dupTTTTTTTTTTTTT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST3_chr19_18092778_18156687	18100126	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0136 a0001c0006t0009g0136	1	296	0.0034	13	c.39+ others(28): Show c.39+2296_39+2297insTTTTTTTTTTTTT	MAST3	ENSG00000099308.13	transcript	ENST00000687212.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST4_chr5_66591393_67174593	66954900	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02451.hp2 others(4): Show HG01891.hp1 HG01891.hp2 HG02451.hp2 HG02622.hp1 HG03139.hp1 HG03209.hp2 HG03540.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0013	a0001c0002 a0001c0009 a0002c0005 others(2): Show a0001c0002 a0001c0009 a0002c0005 a0006c0031 a0013c0027	a0001c0002t0001 a0001c0002t0004 a0001c0002t0019 others(4): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0019 a0001c0009t0002 a0002c0005t0018 a0006c0031t0027 a0013c0027t0009	a0001c0002t0001g0075 a0001c0002t0004g0043 a0001c0002t0019g0068 others(4): Show a0001c0002t0001g0075 a0001c0002t0004g0043 a0001c0002t0019g0068 a0001c0009t0002g0006 a0002c0005t0018g0069 a0006c0031t0027g0101 a0013c0027t0009g0031	7	108	0.0648	13	c.674 others(32): Show c.674+54928_674+54929insAAAAAAAAAAAAA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67033345	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01255.hp2 HG02109.hp1 HG00741.hp2 HG01255.hp2 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0011 a0001c0001t0014 a0001c0009t0012 a0001c0001t0011 a0001c0001t0014 a0001c0009t0012	a0001c0001t0011g0103 a0001c0001t0014g0035 a0001c0009t0012g0005 a0001c0001t0011g0103 a0001c0001t0014g0035 a0001c0009t0012g0005	3	108	0.0278	13	c.675 others(32): Show c.675-21059_675-21058insTGTGTGTGTGTGT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	4/28			chr5	TogoVar
MAST4_chr5_66591393_67174593	67078916	A A	ATAAATAT others(6): Show ATAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02486.hp1 HG02559.hp2 others(1): Show HG02280.hp1 HG02486.hp1 HG02559.hp2 HG02809.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0011 a0001c0002 a0004c0011	a0001c0002t0001 a0001c0002t0005 a0001c0002t0020 others(1): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0020 a0004c0011t0014	a0001c0002t0001g0070 a0001c0002t0005g0055 a0001c0002t0020g0032 others(1): Show a0001c0002t0001g0070 a0001c0002t0005g0055 a0001c0002t0020g0032 a0004c0011t0014g0067	4	108	0.0370	13	c.764 others(32): Show c.764-11244_764-11243insAATATATATATTA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67078917	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02451.hp1 HG02922.hp1 HG00323.hp1 HG02451.hp1 HG02922.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0036 a0003c0004 a0004c0015 a0001c0036 a0003c0004 a0004c0015	a0001c0036t0012 a0003c0004t0002 a0004c0015t0004 a0001c0036t0012 a0003c0004t0002 a0004c0015t0004	a0001c0036t0012g0015 a0003c0004t0002g0021 a0004c0015t0004g0065 a0001c0036t0012g0015 a0003c0004t0002g0021 a0004c0015t0004g0065	3	108	0.0278	13	c.764 others(32): Show c.764-11244_764-11232dupATATATATATATA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAT1A_chr10_80266820_80294658	80279757	G G	GCACAGAC others(6): Show GCACAGACAGACAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(323): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0002c0005 a0002c0007	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(36): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0002t0001 a0001c0002t0011 a0001c0002t0021 a0001c0002t0029 a0001c0002t0031 a0001c0004t0015 a0001c0004t0017 a0001c0004t0019 a0001c0006t0018 a0001c0008t0002 a0001c0009t0007 a0002c0005t0001 a0002c0007t0004	a0001c0001t0002g0001 a0001c0001t0002g0027 a0001c0001t0002g0057 others(89): Show a0001c0001t0002g0001 a0001c0001t0002g0027 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0071 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0099 a0001c0001t0004g0004 a0001c0001t0004g0011 a0001c0001t0004g0029 a0001c0001t0004g0065 a0001c0001t0005g0009 a0001c0001t0005g0016 a0001c0001t0005g0020 a0001c0001t0006g0012 a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0052 a0001c0001t0007g0008 a0001c0001t0007g0028 a0001c0001t0008g0007 a0001c0001t0009g0018 a0001c0001t0009g0022 a0001c0001t0010g0023 a0001c0001t0010g0034 a0001c0001t0010g0101 a0001c0001t0010g0102 a0001c0001t0013g0015 a0001c0001t0014g0021 a0001c0001t0014g0098 a0001c0001t0016g0054 a0001c0001t0016g0096 a0001c0001t0016g0103 a0001c0001t0020g0040 a0001c0001t0023g0048 a0001c0001t0024g0047 a0001c0001t0025g0046 a0001c0001t0026g0049 a0001c0001t0027g0055 a0001c0001t0028g0081 a0001c0001t0030g0082 a0001c0001t0032g0097 a0001c0001t0033g0062 a0001c0001t0034g0066 a0001c0001t0035g0063 a0001c0001t0036g0067 a0001c0001t0037g0064 a0001c0001t0038g0104 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0010 a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0002t0001g0030 a0001c0002t0001g0033 a0001c0002t0001g0050 a0001c0002t0001g0053 a0001c0002t0001g0056 a0001c0002t0001g0060 a0001c0002t0001g0070 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0078 a0001c0002t0001g0088 a0001c0002t0001g0095 a0001c0002t0001g0100 a0001c0002t0011g0013 a0001c0002t0021g0042 a0001c0002t0029g0076 a0001c0002t0031g0077 a0001c0004t0015g0068 a0001c0004t0017g0024 a0001c0004t0019g0035 a0001c0006t0018g0025 a0001c0008t0002g0083 a0001c0009t0007g0051 a0002c0005t0001g0072 a0002c0005t0001g0074 a0002c0007t0004g0061	326	372	0.8763	13	c.549 others(28): Show c.549+415_549+416insTTGTCTGTCTGTG	MAT1A	ENSG00000151224.13	transcript	ENST00000372213.8	protein_coding	5/8			chr10	TogoVar
MATCAP2_chr7_36319152_36372240	36330436	T T	TGAGGCAA others(6): Show TGAGGCAAGGGGAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	388	0.0026	13	c.139 others(30): Show c.1395+533_1395+545dupCTCCCCTTGCCTC	MATCAP2	ENSG00000164542.13	transcript	ENST00000440378.6	protein_coding	6/6			chr7	TogoVar
MATCAP2_chr7_36319152_36372240	36337098	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	388	0.0026	13	c.715 others(28): Show c.715-814_715-802dupTTTTTTTTTTTTT	MATCAP2	ENSG00000164542.13	transcript	ENST00000440378.6	protein_coding	2/6			chr7	TogoVar
MATN2_chr8_97864064_98041724	97988171	A A	AAAAATAT others(6): Show AAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03704.hp1 NA18960.hp2 HG02258.hp1 HG03704.hp1 NA18960.hp2	a0002 a0016 a0002 a0016	a0002c0006 a0002c0007 a0016c0079 a0002c0006 a0002c0007 a0016c0079	a0002c0006t0002 a0002c0007t0003 a0016c0079t0003 a0002c0006t0002 a0002c0007t0003 a0016c0079t0003	a0002c0006t0002g0006 a0002c0007t0003g0081 a0016c0079t0003g0139 a0002c0006t0002g0006 a0002c0007t0003g0081 a0016c0079t0003g0139	3	318	0.0094	13	c.108 others(32): Show c.1082-6308_1082-6307insAAATATATATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	97988171	A A	AAATATAT others(6): Show AAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0073 a0001c0073	a0001c0073t0002 a0001c0073t0002	a0001c0073t0002g0046 a0001c0073t0002g0046	1	318	0.0031	13	c.108 others(32): Show c.1082-6308_1082-6307insATATATATATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	97992745	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG01106.hp2 others(14): Show HG00323.hp2 HG00558.hp2 HG01106.hp2 HG01496.hp1 HG02293.hp1 HG03195.hp2 NA18522.hp2 NA18612.hp1 NA18941.hp1 NA18945.hp1 NA18964.hp2 NA18989.hp1 NA18998.hp2 NA19010.hp1 NA19074.hp1 NA19085.hp2 NA20905.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0036 a0001c0001 a0013c0036	a0001c0001t0002 a0001c0001t0004 a0013c0036t0002 a0001c0001t0002 a0001c0001t0004 a0013c0036t0002	a0001c0001t0002g0027 a0001c0001t0002g0072 a0001c0001t0002g0130 others(14): Show a0001c0001t0002g0027 a0001c0001t0002g0072 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0228 a0001c0001t0002g0236 a0001c0001t0002g0247 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0304 a0001c0001t0004g0306 a0001c0001t0004g0309 a0001c0001t0004g0312 a0001c0001t0004g0314 a0013c0036t0002g0110 a0013c0036t0002g0111	17	318	0.0535	13	c.108 others(32): Show c.1082-1722_1082-1710dupAAAAAAAAAAAAA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	98000604	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA19057.hp1 HG03540.hp1 NA19057.hp1	a0001 a0025 a0001 a0025	a0001c0073 a0025c0044 a0001c0073 a0025c0044	a0001c0073t0002 a0025c0044t0003 a0001c0073t0002 a0025c0044t0003	a0001c0073t0002g0046 a0025c0044t0003g0071 a0001c0073t0002g0046 a0025c0044t0003g0071	2	318	0.0063	13	c.120 others(32): Show c.1205-3051_1205-3050insAAAAAAGAAAAAA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN3_chr2_19987052_20017668	20010067	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02055.hp2 HG02080.hp1 others(17): Show HG00735.hp2 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02145.hp2 HG02165.hp1 HG02622.hp2 HG02818.hp2 HG03041.hp1 HG03453.hp1 HG03516.hp2 HG03654.hp1 HG03688.hp1 NA18939.hp2 NA18963.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp2 NA19068.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0010t0001	a0001c0001t0001g0019 a0001c0001t0001g0234 a0001c0001t0001g0235 others(9): Show a0001c0001t0001g0019 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0049 a0001c0002t0002g0102 a0001c0002t0002g0230 a0001c0002t0002g0233 a0001c0002t0004g0229 a0001c0003t0001g0232 a0001c0010t0001g0231	20	432	0.0463	13	c.223 others(30): Show c.223+2329_223+2341dupTTTTTTTTTTTTT	MATN3	ENSG00000132031.13	transcript	ENST00000407540.8	protein_coding	1/7			chr2	TogoVar
MATN4_chr20_45288450_45313299	45305805	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01891.hp1 NA18942.hp1 others(3): Show HG01358.hp2 HG01891.hp1 NA18942.hp1 NA18959.hp2 NA19070.hp1 NA19082.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0002 a0001c0001 a0002c0004 a0003c0002	a0001c0001t0009 a0002c0004t0001 a0002c0004t0004 others(1): Show a0001c0001t0009 a0002c0004t0001 a0002c0004t0004 a0003c0002t0001	a0001c0001t0009g0085 a0002c0004t0001g0273 a0002c0004t0004g0187 others(3): Show a0001c0001t0009g0085 a0002c0004t0001g0273 a0002c0004t0004g0187 a0003c0002t0001g0253 a0003c0002t0001g0254 a0003c0002t0001g0255	6	422	0.0142	13	c.-34 others(28): Show c.-34-202_-34-190dupAAAAAAAAAAAAA	MATN4	ENSG00000124159.17	transcript	ENST00000372756.6	protein_coding	1/9			chr20	TogoVar
MATR3_chr5_139288740_139336677	139290438	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp2 HG02738.hp2 others(6): Show HG02572.hp1 HG02572.hp2 HG02738.hp2 NA18906.hp1 NA18956.hp2 NA18997.hp1 NA19070.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015	a0001c0001t0001g0018 a0001c0001t0001g0141 a0001c0001t0001g0161 others(6): Show a0001c0001t0001g0018 a0001c0001t0001g0141 a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0208 a0001c0001t0001g0223 a0001c0001t0004g0151 a0001c0001t0005g0114 a0001c0001t0015g0147	9	282	0.0319	13	c.-35 others(24): Show c.-3545_-3544insTTTTTTTTTTTTT	MATR3	ENSG00000015479.20	transcript	ENST00000394805.8	protein_coding		3301		chr5	TogoVar
MAVS_chr20_3841834_3881118	3854424	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0043 a0002c0002t0043	a0002c0002t0043g0271 a0002c0002t0043g0271	1	420	0.0024	13	c.-67 others(28): Show c.-67-132_-67-120dupAAAAAAAAAAAAA	MAVS	ENSG00000088888.18	transcript	ENST00000428216.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
MBD2_chr18_54146606_54229669	54180890	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0021 a0001c0001t0005g0021	1	300	0.0033	13	c.840 others(30): Show c.840+7983_840+7984insAAAAAAAAAAAAA	MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding	3/6			chr18	TogoVar
MBD3L1_chr19_8827377_8848319	8830190	C C	CCCTTTGC others(6): Show CCCTTTGCTTTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	428	0.0023	13	c.-24 others(24): Show c.-2439_-2438insCCTTTGCTTTCTG	MBD3L1	ENSG00000170948.4	transcript	ENST00000595891.2	protein_coding		2186		chr19	TogoVar
MBD3L1_chr19_8827377_8848319	8838252	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	428	0.0023	13	c.-10 others(32): Show c.-106-2644_-106-2632dupAAAAAAAAAAAAA	MBD3L1	ENSG00000170948.4	transcript	ENST00000595891.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035069	T T	TAATTTAT others(6): Show TAATTTATATGTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02886.hp1 HG02886.hp2 others(2): Show HG02280.hp1 HG02886.hp1 HG02886.hp2 HG03540.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0005c0010t0001 a0001c0001t0001 a0001c0001t0002 a0005c0010t0001	a0001c0001t0001g0018 a0001c0001t0002g0014 a0005c0010t0001g0019 a0001c0001t0001g0018 a0001c0001t0002g0014 a0005c0010t0001g0019	5	262	0.0191	13	c.27 others(24): Show c.2791_*2792insTAACATATAAATT	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		2679		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035274	A A	AATAATAT others(6): Show AATAATATATAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG02080.hp2 NA19089.hp2 HG00597.hp2 HG02080.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0002 a0001c0013t0002 a0001c0001t0002 a0001c0013t0002	a0001c0001t0002g0006 a0001c0013t0002g0022 a0001c0001t0002g0006 a0001c0013t0002g0022	3	262	0.0115	13	c.25 others(24): Show c.2586_*2587insAATTATATATTAT	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		2474		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035069	T T	TAATTTAT others(6): Show TAATTTATATGTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG03540.hp2 HG02280.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0009 a0001c0001t0002g0042 a0001c0001t0001g0009 a0001c0001t0002g0042	2	249	0.0080	13	c.21 others(24): Show c.2175_*2176insAATTTATATGTTA	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2059		chr19	TogoVar
MBD5_chr2_148016091_148521971	148074507	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01123.hp1 HG01175.hp1 others(21): Show HG00738.hp1 HG01123.hp1 HG01175.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02055.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02486.hp2 HG02683.hp1 HG02818.hp2 HG02976.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 NA18906.hp2 NA18984.hp1 NA19006.hp2 NA19087.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0002c0013 others(1): Show a0001c0001 a0001c0003 a0002c0013 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0023 a0001c0001t0026 a0001c0003t0003 a0001c0003t0008 a0002c0013t0002 a0006c0010t0002	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(21): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0162 a0001c0001t0002g0022 a0001c0001t0002g0148 a0001c0001t0002g0164 a0001c0001t0003g0007 a0001c0001t0003g0026 a0001c0001t0005g0030 a0001c0001t0006g0160 a0001c0001t0007g0161 a0001c0001t0009g0027 a0001c0001t0011g0031 a0001c0001t0015g0023 a0001c0001t0017g0079 a0001c0001t0023g0159 a0001c0001t0026g0163 a0001c0003t0003g0149 a0001c0003t0008g0150 a0002c0013t0002g0025 a0006c0010t0002g0004	24	188	0.1277	13	c.-92 others(34): Show c.-925+52835_-925+52836insTTTTTTTTTTTTG	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148294501	G G	GTTTGTTT others(6): Show GTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp2 HG02622.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0121 a0001c0001t0012g0122 a0001c0001t0012g0121 a0001c0001t0012g0122	2	188	0.0106	13	c.-67 others(34): Show c.-679-47710_-679-47709insGTTTTGTTTTTTT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148294502	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	188	0.0053	13	c.-67 others(34): Show c.-679-47700_-679-47699insGTTTTTTTTTTTT	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(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0105 a0001c0001t0024g0105	1	188	0.0053	13	c.-67 others(34): Show c.-679-45342_-679-45330dupTTTTTTTTTTTTT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148341849	T T	TAAAAATA others(6): Show TAAAAATATTGTTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(39): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG01243.hp1 HG01358.hp2 HG01978.hp1 HG02004.hp1 HG02129.hp2 HG02280.hp1 HG02647.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp2 HG03017.hp2 HG03209.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG04184.hp1 HG06807.hp1 NA18943.hp1 NA18946.hp1 NA18972.hp1 NA18977.hp1 NA18984.hp1 NA18988.hp2 NA18994.hp2 NA18995.hp1 NA19007.hp2 NA19030.hp2 NA19043.hp2 NA19065.hp2 NA19066.hp1 NA20129.hp2 NA20300.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0007 others(3): Show a0001c0001 a0001c0003 a0001c0007 a0004c0008 a0005c0006 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0020 a0001c0001t0024 a0001c0001t0028 a0001c0003t0001 a0001c0007t0001 a0004c0008t0002 a0005c0006t0001 a0006c0010t0002	a0001c0001t0001g0034 a0001c0001t0001g0064 a0001c0001t0001g0071 others(39): Show a0001c0001t0001g0034 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0001g0133 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0002g0055 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0101 a0001c0001t0002g0165 a0001c0001t0003g0001 a0001c0001t0003g0016 a0001c0001t0003g0026 a0001c0001t0003g0073 a0001c0001t0003g0111 a0001c0001t0004g0049 a0001c0001t0004g0092 a0001c0001t0004g0143 a0001c0001t0005g0030 a0001c0001t0005g0072 a0001c0001t0005g0132 a0001c0001t0006g0177 a0001c0001t0007g0187 a0001c0001t0008g0017 a0001c0001t0010g0086 a0001c0001t0011g0114 a0001c0001t0013g0081 a0001c0001t0020g0109 a0001c0001t0024g0105 a0001c0001t0028g0138 a0001c0003t0001g0075 a0001c0007t0001g0045 a0004c0008t0002g0119 a0005c0006t0001g0134 a0006c0010t0002g0004	42	188	0.2234	13	c.-67 others(30): Show c.-679-364_-679-363insAAAATATTGTTGA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBLAC2_chr5_90453209_90479771	90478569	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00609.hp2 others(115): Show HG00423.hp1 HG00438.hp2 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG01069.hp2 HG01070.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01516.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02451.hp1 HG02523.hp1 HG02602.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG04115.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18971.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19054.hp1 NA19058.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19075.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0003c0006	a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 others(11): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0003t0004 a0001c0003t0011 a0001c0005t0015 a0001c0007t0001 a0001c0008t0001 a0003c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(50): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0009g0032 a0001c0001t0013g0043 a0001c0001t0016g0047 a0001c0001t0025g0097 a0001c0001t0026g0098 a0001c0001t0027g0118 a0001c0001t0028g0108 a0001c0003t0004g0027 a0001c0003t0004g0045 a0001c0003t0011g0130 a0001c0003t0011g0132 a0001c0005t0015g0046 a0001c0007t0001g0115 a0001c0008t0001g0069 a0003c0006t0001g0049	118	378	0.3122	13	c.-42 others(24): Show c.-4290_-4278dupAAAAAAAAAAAAA	MBLAC2	ENSG00000176055.10	transcript	ENST00000316610.7	protein_coding		3799		chr5	TogoVar
MBNL1_chr3_152263929_152470780	152325087	G G	GCCCCCCC others(6): Show GCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01069.hp2 HG01109.hp2 others(34): Show HG00642.hp2 HG01069.hp2 HG01109.hp2 HG01257.hp1 HG01358.hp2 HG01884.hp2 HG02056.hp2 HG02165.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02683.hp2 HG02723.hp1 HG02809.hp2 HG03139.hp1 HG03209.hp2 HG03471.hp2 HG03688.hp1 HG03710.hp2 NA18944.hp1 NA18947.hp2 NA18966.hp2 NA18972.hp2 NA18973.hp2 NA18985.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19006.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19060.hp1 NA19076.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0022 a0001c0001t0001g0104 a0001c0001t0001g0165 others(34): Show a0001c0001t0001g0022 a0001c0001t0001g0104 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0192 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0259 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0281 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0302 a0001c0001t0001g0310 a0001c0001t0002g0027 a0001c0001t0002g0101 a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0002g0225 a0001c0001t0002g0228 a0001c0001t0002g0283 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0293 a0001c0001t0002g0307 a0001c0001t0002g0316 a0001c0001t0002g0320 a0001c0001t0002g0323 a0001c0001t0002g0329 a0001c0001t0005g0128 a0001c0001t0005g0244 a0001c0001t0005g0251 a0001c0001t0010g0286	37	338	0.1095	13	c.174 others(32): Show c.174+24729_174+24730insCCCCCCCCCCCCC	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL1_chr3_152263929_152470780	152325098	C C	CCCCCCCC others(6): Show CCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0294 a0001c0001t0002g0294	1	338	0.0030	13	c.174 others(32): Show c.174+24733_174+24734insCCCCCCCCCCGCC	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL2_chr13_97217333_97399120	97218440	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 NA20300.hp1 HG02572.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0194 a0001c0002t0006g0197 a0001c0001t0001g0194 a0001c0002t0006g0197	2	254	0.0079	13	c.-46 others(24): Show c.-4696_-4695insAAAAAAAAAAAAA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding		3892		chr13	TogoVar
MBNL2_chr13_97217333_97399120	97291900	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01261.hp2 HG01496.hp2 others(12): Show HG01192.hp2 HG01261.hp2 HG01496.hp2 HG01516.hp2 HG01993.hp2 HG02071.hp2 HG02258.hp1 HG02451.hp1 HG02886.hp1 HG03688.hp2 HG04115.hp2 NA18950.hp1 NA18988.hp1 NA19043.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0032 others(12): Show a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0049 a0001c0001t0001g0065 a0001c0001t0001g0075 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0134 a0001c0001t0001g0192 a0001c0001t0002g0017 a0001c0001t0004g0184 a0001c0001t0004g0210 a0001c0001t0008g0005	15	254	0.0591	13	c.174 others(32): Show c.174+15496_174+15508dupAAAAAAAAAAAAA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL2_chr13_97217333_97399120	97374063	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02630.hp2 HG00642.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0148 a0001c0001t0001g0125 a0001c0001t0001g0148	2	254	0.0079	13	c.104 others(32): Show c.1048+8909_1048+8921dupTTTTTTTTTTTTT	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL3_chrX_132364320_132494038	132396586	A A	ATATTCCT others(6): Show ATATTCCTATATAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0107 a0001c0001t0038g0107	1	191	0.0052	13	c.343 others(30): Show c.343-4253_343-4252insGTATATAGGAATA	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBOAT1_chr6_20094684_20217469	20192995	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG04199.hp1 HG04199.hp2 others(9): Show HG02451.hp2 HG04199.hp1 HG04199.hp2 NA18950.hp2 NA18954.hp2 NA18955.hp1 NA19000.hp2 NA19009.hp1 NA19011.hp2 NA19064.hp1 NA19066.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0016 a0001c0001t0021 a0001c0001t0035 a0001c0001t0047	a0001c0001t0001g0011 a0001c0001t0001g0201 a0001c0001t0002g0126 others(9): Show a0001c0001t0001g0011 a0001c0001t0001g0201 a0001c0001t0002g0126 a0001c0001t0002g0151 a0001c0001t0003g0163 a0001c0001t0003g0165 a0001c0001t0006g0180 a0001c0001t0008g0104 a0001c0001t0016g0006 a0001c0001t0021g0120 a0001c0001t0035g0013 a0001c0001t0047g0181	12	336	0.0357	13	c.99+ others(30): Show c.99+19128_99+19140dupAAAAAAAAAAAAA	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT2_chr2_8847690_9008684	8912380	A A	AAAGAAAG others(6): Show AAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0129 a0001c0001t0047g0129	1	162	0.0062	13	c.300 others(30): Show c.300-3665_300-3664insCTCTTTCTTTCTT	MBOAT2	ENSG00000143797.12	transcript	ENST00000305997.8	protein_coding	3/12			chr2	TogoVar
MBOAT4_chr8_30126671_30149665	30135411	G G	GTTCAATT others(6): Show GTTCAATTCCCTCT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0059	1	380	0.0026	13	c.345 others(30): Show c.345-2506_345-2505insAGAGGGAATTGAA	MBOAT4	ENSG00000177669.4	transcript	ENST00000320542.4	protein_coding	2/2			chr8	TogoVar
MBOAT7_chr19_54168415_54194580	54181649	A A	AGGAAGGA others(6): Show AGGAAGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02965.hp1 HG03098.hp1 others(2): Show HG02723.hp1 HG02965.hp1 HG03098.hp1 HG03540.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0206 a0001c0001t0001g0230 a0001c0001t0001g0231 others(2): Show a0001c0001t0001g0206 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0252 a0001c0001t0011g0262	5	373	0.0134	13	c.494 others(28): Show c.494-517_494-516insCCTCCCTCCTTCC	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	5/7			chr19	TogoVar
MBP_chr18_76973833_77137783	76975157	T T	TTTCTTTT others(6): Show TTTCTTTTCTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02630.hp2 NA19065.hp1 HG02280.hp1 HG02630.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0208 a0001c0002t0001g0154 a0001c0002t0001g0181 a0001c0001t0001g0208 a0001c0002t0001g0154 a0001c0002t0001g0181	3	396	0.0076	13	c.52 others(24): Show c.5269_*5270insGAAAAGAAAAGAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding		3675		chr18	TogoVar
MBP_chr18_76973833_77137783	77025705	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02109.hp2 HG03704.hp2 others(5): Show HG00438.hp1 HG02109.hp2 HG03704.hp2 HG06807.hp1 NA18992.hp1 NA18992.hp2 NA19086.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0026 a0001c0002t0050	a0001c0001t0001g0079 a0001c0001t0001g0159 a0001c0001t0001g0190 others(5): Show a0001c0001t0001g0079 a0001c0001t0001g0159 a0001c0001t0001g0190 a0001c0001t0001g0214 a0001c0001t0002g0273 a0001c0001t0006g0285 a0001c0001t0026g0376 a0001c0002t0050g0354	8	396	0.0202	13	c.140 others(30): Show c.140-8450_140-8438dupAAAAAAAAAAAAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77029447	A A	AGGGGGAG others(6): Show AGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0310 a0001c0001t0006g0310	1	396	0.0025	13	c.140 others(32): Show c.140-12192_140-12180dupCTCCCCCTCCCCC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77029453	A A	AGGGGGAG others(6): Show AGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	396	0.0025	13	c.140 others(32): Show c.140-12198_140-12186dupCTCCCCCTCCCCC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77057824	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19058.hp1 NA18943.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0242 a0001c0001t0006g0250 a0001c0001t0002g0242 a0001c0001t0006g0250	2	396	0.0051	13	c.139 others(30): Show c.139+8461_139+8473dupAAAAAAAAAAAAA	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77084431	C C	CACACACA others(6): Show CACACACACACACA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	396	0.0025	13	c.52- others(30): Show c.52-18047_52-18046insTGTGTGTGTGTGT	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	2/8			chr18	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0227 a0001c0001t0047g0227	1	340	0.0029	13	c.41 others(24): Show c.4153_*4154insATTTTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(6): Show AAAAAAAAAAAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02818.hp2 HG01891.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0090 a0001c0001t0013g0334 a0001c0001t0013g0090 a0001c0001t0013g0334	2	340	0.0059	13	c.41 others(24): Show c.4153_*4154insAATTTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(6): Show AAAAAAAAAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01257.hp2 HG01358.hp2 others(5): Show HG00544.hp2 HG01257.hp2 HG01358.hp2 HG02083.hp2 HG04228.hp2 NA18943.hp2 NA18954.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0015 a0001c0001t0049 others(2): Show a0001c0001t0007 a0001c0001t0015 a0001c0001t0049 a0001c0001t0094 a0001c0001t0158	a0001c0001t0007g0234 a0001c0001t0007g0238 a0001c0001t0015g0245 others(5): Show a0001c0001t0007g0234 a0001c0001t0007g0238 a0001c0001t0015g0245 a0001c0001t0015g0246 a0001c0001t0049g0240 a0001c0001t0049g0249 a0001c0001t0094g0242 a0001c0001t0158g0260	8	340	0.0235	13	c.41 others(24): Show c.4153_*4154insATATTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(6): Show AAAAAAAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG04184.hp2 HG01175.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0117 a0001c0001t0089 a0001c0001t0117	a0001c0001t0089g0241 a0001c0001t0117g0225 a0001c0001t0089g0241 a0001c0001t0117g0225	2	340	0.0059	13	c.41 others(24): Show c.4153_*4154insATATATTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51194566	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0064 a0001c0001t0082g0064	1	340	0.0029	13	c.137 others(30): Show c.1372+635_1372+647dupTTTTTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	13/16			chr17	TogoVar

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