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
MAGI2_chr7_78012055_79458667	78645047	AAGCATGT others(6): Show AAGCATGTTTTATG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03041.hp1 HG03130.hp2 others(4): Show HG01261.hp2 HG03041.hp1 HG03130.hp2 NA19030.hp2 NA19240.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0002t0001 a0001c0003t0002 a0001c0003t0003 others(3): Show a0001c0002t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0004t0001 a0001c0006t0001	a0001c0002t0001g0010 a0001c0002t0001g0024 a0001c0003t0002g0012 others(4): Show a0001c0002t0001g0010 a0001c0002t0001g0024 a0001c0003t0002g0012 a0001c0003t0003g0001 a0001c0003t0004g0002 a0001c0004t0001g0014 a0001c0006t0001g0038	7	40	0.1750	-13	c.419 others(32): Show c.419-17821_419-17809delCATAAAACATGCT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	2/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	78728540	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03041.hp1 HG03486.hp1 others(2): Show HG02897.hp1 HG03041.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 others(1): Show a0001c0002 a0001c0004 a0001c0005 a0001c0006	a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 others(1): Show a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001	a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0004t0001g0034 others(2): Show a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0004t0001g0034 a0001c0005t0001g0005 a0001c0006t0001g0038	5	40	0.1250	-13	c.419 others(34): Show c.419-101314_419-101302delAAAAAAAAAAAAA	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	2/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	78925567	ATTGCCTT others(6): Show ATTGCCTTTTTAGC	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	40	0.0250	-13	c.418 others(32): Show c.418+81510_418+81522delGCTAAAAAGGCAA	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	2/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	79292770	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02897.hp2 NA21309.hp1 HG00738.hp1 HG02897.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0012 a0001c0001 a0001c0011 a0001c0012	a0001c0001t0001 a0001c0011t0001 a0001c0012t0001 a0001c0001t0001 a0001c0011t0001 a0001c0012t0001	a0001c0001t0001g0015 a0001c0011t0001g0023 a0001c0012t0001g0022 a0001c0001t0001g0015 a0001c0011t0001g0023 a0001c0012t0001g0022	3	40	0.0750	-13	c.301 others(34): Show c.301+160237_301+160249delTTTTTTTTTTTTT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	79368847	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03041.hp2 HG03486.hp1 others(2): Show HG02451.hp2 HG03041.hp2 HG03486.hp1 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0001t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0001g0007 a0001c0001t0001g0036 a0001c0001t0002g0006 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0036 a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0005t0001g0005	5	40	0.1250	-13	c.301 others(32): Show c.301+84160_301+84172delTTTTTTTTTTTTT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAGI3_chr1_113385515_113690923	113416271	AATTAATT others(6): Show AATTAATTACACAT	A A	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0057 a0001c0009t0002g0057	1	236	0.0042	-13	c.316 others(32): Show c.316+24931_316+24943delCACATATTAATTA	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGI3_chr1_113385515_113690923	113470130	TTTATCTG others(6): Show TTTATCTGTAGGCA	T T	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0071	1	236	0.0042	-13	c.316 others(32): Show c.316+78787_316+78799delTGTAGGCATTATC	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGI3_chr1_113385515_113690923	113503219	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG01070.hp2 others(34): Show HG00099.hp1 HG00642.hp2 HG01070.hp2 HG01099.hp2 HG01109.hp2 HG01192.hp2 HG01433.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp2 HG02300.hp1 HG02683.hp2 HG02976.hp2 HG03834.hp2 NA18940.hp2 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18955.hp2 NA18957.hp2 NA18961.hp1 NA18967.hp1 NA18968.hp2 NA18978.hp2 NA18983.hp1 NA18989.hp2 NA18994.hp1 NA18995.hp1 NA19011.hp2 NA19054.hp2 NA19056.hp1 NA19060.hp1 NA19064.hp1 NA19070.hp2 NA19078.hp1 NA19080.hp1 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0002t0002 a0002c0006t0004	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0018 others(34): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0139 a0001c0001t0002g0016 a0001c0001t0002g0033 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0004g0002 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0017 a0001c0001t0004g0019 a0001c0001t0004g0022 a0001c0001t0004g0025 a0001c0001t0004g0030 a0001c0001t0004g0035 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0015g0026 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0048 a0002c0006t0004g0037	37	236	0.1568	-13	c.317 others(32): Show c.317-46270_317-46258delAAAAAAAAAAAAA	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGI3_chr1_113385515_113690923	113503309	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	1	236	0.0042	-13	c.317 others(32): Show c.317-46194_317-46182delAAAAAAAAAAAAA	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGT1_chrX_77820747_77900435	77878289	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0008 a0001c0001t0001g0009	2	260	0.0077	-13	c.103 others(30): Show c.103-2705_103-2693delTTTTTTTTTTTTT	MAGT1	ENSG00000102158.22	transcript	ENST00000618282.5	protein_coding	1/9			chrX	TogoVar
MAJIN_chr11_64933230_64977108	64939235	GGTATCAC others(6): Show GGTATCACAGGCAT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp2 HG01071.hp1 others(12): Show HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01515.hp1 HG02004.hp2 HG02451.hp2 HG02572.hp1 HG02976.hp1 HG03139.hp2 HG04228.hp2 NA19030.hp1 NA19030.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0368 a0001c0001t0001g0369 others(11): Show a0001c0001t0001g0004 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0380	15	384	0.0391	-13	c.1+ others(26): Show c.1+414_*1+426delATGCCTGTGATAC	MAJIN	ENSG00000168070.12	transcript	ENST00000301896.6	protein_coding	10/10			chr11	TogoVar
MAJIN_chr11_64933230_64977108	64948626	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	384	0.0026	-13	c.350 others(28): Show c.350-820_350-808delTATATATATATAT	MAJIN	ENSG00000168070.12	transcript	ENST00000301896.6	protein_coding	6/10			chr11	TogoVar
MAJIN_chr11_64933230_64977108	64948627	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA19000.hp2 HG02129.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0128 a0001c0001t0001g0029 a0001c0001t0001g0128	2	384	0.0052	-13	c.350 others(28): Show c.350-821_350-809delATATATATATATA	MAJIN	ENSG00000168070.12	transcript	ENST00000301896.6	protein_coding	6/10			chr11	TogoVar
MAJIN_chr11_64933230_64977108	64948629	ATATATAT others(6): Show ATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	384	0.0026	-13	c.350 others(28): Show c.350-823_350-811delAAATATATATATA	MAJIN	ENSG00000168070.12	transcript	ENST00000301896.6	protein_coding	6/10			chr11	TogoVar
MAJIN_chr11_64933230_64977108	64948633	ATATATAT others(6): Show ATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	384	0.0026	-13	c.350 others(28): Show c.350-827_350-815delAAAAAAATATATA	MAJIN	ENSG00000168070.12	transcript	ENST00000301896.6	protein_coding	6/10			chr11	TogoVar
MAJIN_chr11_64933230_64977108	64967406	CAAAAAAG others(6): Show CAAAAAAGAAAAAG	C C	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18983.hp2 NA18986.hp1 others(2): Show NA18973.hp2 NA18983.hp2 NA18986.hp1 NA19004.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0350 a0001c0001t0001g0351 others(2): Show a0001c0001t0001g0179 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0365	5	384	0.0130	-13	c.-65 others(30): Show c.-65+4458_-65+4470delCTTTTTCTTTTTT	MAJIN	ENSG00000168070.12	transcript	ENST00000301896.6	protein_coding	1/10			chr11	TogoVar
MAK_chr6_10757723_10843539	10813123	TATATATA others(6): Show TATATATATATAAA	T T	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	272	0.0037	-13	c.358 others(28): Show c.358+508_358+520delTTTATATATATAT	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	5/14			chr6	TogoVar
MALRD1_chr10_19043801_19739478	19070836	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02976.hp2 NA19030.hp2 others(1): Show HG02622.hp1 HG02976.hp2 NA19030.hp2 NA19043.hp1	a0015 a0045 a0062 others(1): Show a0015 a0045 a0062 a0084	a0015c0016 a0045c0066 a0062c0056 others(1): Show a0015c0016 a0045c0066 a0062c0056 a0084c0089	a0015c0016t0001 a0045c0066t0001 a0062c0056t0002 others(1): Show a0015c0016t0001 a0045c0066t0001 a0062c0056t0002 a0084c0089t0001	a0015c0016t0001g0096 a0045c0066t0001g0012 a0062c0056t0002g0147 others(1): Show a0015c0016t0001g0096 a0045c0066t0001g0012 a0062c0056t0002g0147 a0084c0089t0001g0011	4	152	0.0263	-13	c.340 others(30): Show c.340+3995_340+4007delTTTTTTTTTTTTT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	2/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19264450	CTTTTTCT others(6): Show CTTTTTCTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01123.hp1 HG01192.hp2 others(19): Show HG00544.hp2 HG01123.hp1 HG01192.hp2 HG01256.hp2 HG02055.hp1 HG02071.hp1 HG02622.hp1 HG02622.hp2 HG03098.hp1 HG03453.hp1 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03710.hp1 NA18522.hp1 NA18947.hp1 NA18965.hp1 NA18965.hp2 NA18971.hp2 NA18981.hp2 NA18988.hp1 NA19088.hp1	a0001 a0002 a0004 others(15): Show a0001 a0002 a0004 a0006 a0010 a0013 a0015 a0016 a0018 a0021 a0025 a0026 a0044 a0058 a0062 a0065 a0079 a0080	a0001c0003 a0001c0052 a0002c0028 others(17): Show a0001c0003 a0001c0052 a0002c0028 a0004c0118 a0006c0004 a0006c0024 a0010c0014 a0013c0115 a0015c0016 a0016c0108 a0018c0017 a0021c0011 a0025c0013 a0026c0062 a0044c0114 a0058c0119 a0062c0056 a0065c0109 a0079c0088 a0080c0053	a0001c0003t0001 a0001c0052t0001 a0002c0028t0001 others(17): Show a0001c0003t0001 a0001c0052t0001 a0002c0028t0001 a0004c0118t0001 a0006c0004t0001 a0006c0024t0001 a0010c0014t0001 a0013c0115t0001 a0015c0016t0002 a0016c0108t0002 a0018c0017t0001 a0021c0011t0002 a0025c0013t0001 a0026c0062t0001 a0044c0114t0002 a0058c0119t0001 a0062c0056t0002 a0065c0109t0002 a0079c0088t0001 a0080c0053t0001	a0001c0003t0001g0114 a0001c0003t0001g0115 a0001c0052t0001g0116 others(19): Show a0001c0003t0001g0114 a0001c0003t0001g0115 a0001c0052t0001g0116 a0002c0028t0001g0101 a0004c0118t0001g0100 a0006c0004t0001g0026 a0006c0004t0001g0035 a0006c0024t0001g0127 a0010c0014t0001g0008 a0013c0115t0001g0021 a0015c0016t0002g0083 a0016c0108t0002g0145 a0018c0017t0001g0107 a0021c0011t0002g0018 a0025c0013t0001g0118 a0026c0062t0001g0111 a0044c0114t0002g0076 a0058c0119t0001g0010 a0062c0056t0002g0147 a0065c0109t0002g0077 a0079c0088t0001g0013 a0080c0053t0001g0117	22	152	0.1447	-13	c.307 others(32): Show c.3079+6685_3079+6697delCTTTTTTTTTTTT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	19/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19547803	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0091 a0091	a0091c0104 a0091c0104	a0091c0104t0001 a0091c0104t0001	a0091c0104t0001g0016 a0091c0104t0001g0016	1	152	0.0066	-13	c.547 others(34): Show c.5478+16453_5478+16465delATATATATATATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	32/39			chr10	TogoVar
MALRD1_chr10_19043801_19739478	19547806	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0070 a0070	a0070c0080 a0070c0080	a0070c0080t0001 a0070c0080t0001	a0070c0080t0001g0058 a0070c0080t0001g0058	1	152	0.0066	-13	c.547 others(34): Show c.5478+16457_5478+16469delATATATATATATT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	32/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19547812	ATATATAT others(6): Show ATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0054 a0054	a0054c0069 a0054c0069	a0054c0069t0002 a0054c0069t0002	a0054c0069t0002g0089 a0054c0069t0002g0089	1	152	0.0066	-13	c.547 others(34): Show c.5478+16463_5478+16475delATATATTTTTTTT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	32/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19620006	CAATAATA others(6): Show CAATAATAATAATA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00642.hp1 others(42): Show HG00544.hp2 HG00558.hp1 HG00642.hp1 HG00642.hp2 HG01074.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01256.hp1 HG01358.hp1 HG01975.hp2 HG01993.hp2 HG02071.hp1 HG02074.hp2 HG02132.hp1 HG02280.hp1 HG02523.hp1 HG02630.hp2 HG02896.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18947.hp2 NA18964.hp2 NA18965.hp1 NA18971.hp1 NA18971.hp2 NA18998.hp1 NA19063.hp2 NA19088.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0008 a0009 others(24): Show a0002 a0008 a0009 a0010 a0011 a0014 a0019 a0020 a0021 a0024 a0026 a0031 a0032 a0045 a0047 a0068 a0074 a0075 a0076 a0077 a0081 a0083 a0087 a0089 a0093 a0095 a0096	a0002c0020 a0002c0027 a0002c0028 others(34): Show a0002c0020 a0002c0027 a0002c0028 a0002c0039 a0008c0006 a0009c0040 a0009c0071 a0009c0073 a0010c0014 a0010c0025 a0011c0018 a0011c0029 a0014c0068 a0014c0116 a0019c0009 a0020c0007 a0021c0011 a0024c0061 a0024c0113 a0026c0062 a0026c0063 a0031c0122 a0032c0023 a0045c0066 a0047c0036 a0068c0078 a0074c0032 a0075c0030 a0076c0085 a0077c0086 a0081c0084 a0083c0054 a0087c0105 a0089c0106 a0093c0099 a0095c0033 a0096c0101	a0002c0020t0001 a0002c0020t0002 a0002c0027t0001 others(37): Show a0002c0020t0001 a0002c0020t0002 a0002c0027t0001 a0002c0028t0001 a0002c0039t0001 a0008c0006t0001 a0009c0040t0002 a0009c0071t0001 a0009c0073t0001 a0010c0014t0001 a0010c0025t0001 a0011c0018t0001 a0011c0018t0002 a0011c0029t0001 a0014c0068t0001 a0014c0116t0002 a0019c0009t0002 a0020c0007t0001 a0021c0011t0001 a0021c0011t0002 a0024c0061t0001 a0024c0113t0001 a0026c0062t0001 a0026c0063t0001 a0031c0122t0001 a0032c0023t0001 a0045c0066t0001 a0047c0036t0001 a0068c0078t0002 a0074c0032t0001 a0075c0030t0001 a0076c0085t0001 a0077c0086t0002 a0081c0084t0001 a0083c0054t0001 a0087c0105t0001 a0089c0106t0001 a0093c0099t0001 a0095c0033t0001 a0096c0101t0001	a0002c0020t0001g0053 a0002c0020t0002g0086 a0002c0027t0001g0060 others(42): Show a0002c0020t0001g0053 a0002c0020t0002g0086 a0002c0027t0001g0060 a0002c0028t0001g0101 a0002c0039t0001g0134 a0008c0006t0001g0050 a0008c0006t0001g0051 a0008c0006t0001g0059 a0009c0040t0002g0067 a0009c0071t0001g0001 a0009c0073t0001g0032 a0010c0014t0001g0008 a0010c0014t0001g0135 a0010c0025t0001g0095 a0011c0018t0001g0028 a0011c0018t0002g0062 a0011c0029t0001g0097 a0014c0068t0001g0079 a0014c0116t0002g0085 a0019c0009t0002g0070 a0019c0009t0002g0091 a0020c0007t0001g0130 a0020c0007t0001g0131 a0021c0011t0001g0102 a0021c0011t0002g0018 a0024c0061t0001g0132 a0024c0113t0001g0038 a0026c0062t0001g0111 a0026c0063t0001g0041 a0031c0122t0001g0024 a0032c0023t0001g0045 a0045c0066t0001g0012 a0047c0036t0001g0006 a0068c0078t0002g0068 a0074c0032t0001g0124 a0075c0030t0001g0125 a0076c0085t0001g0052 a0077c0086t0002g0074 a0081c0084t0001g0044 a0083c0054t0001g0036 a0087c0105t0001g0047 a0089c0106t0001g0042 a0093c0099t0001g0048 a0095c0033t0001g0103 a0096c0101t0001g0113	45	152	0.2961	-13	c.613 others(32): Show c.6137+4098_6137+4110delATAATAATAATAA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	36/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19722590	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02132.hp2 NA18957.hp2 others(2): Show HG02071.hp2 HG02132.hp2 NA18957.hp2 NA18988.hp1 NA19088.hp1	a0001 a0028 a0063 others(1): Show a0001 a0028 a0063 a0086	a0001c0003 a0028c0098 a0063c0057 others(1): Show a0001c0003 a0028c0098 a0063c0057 a0086c0103	a0001c0003t0001 a0028c0098t0001 a0063c0057t0001 others(1): Show a0001c0003t0001 a0028c0098t0001 a0063c0057t0001 a0086c0103t0001	a0001c0003t0001g0114 a0001c0003t0001g0115 a0028c0098t0001g0040 others(2): Show a0001c0003t0001g0114 a0001c0003t0001g0115 a0028c0098t0001g0040 a0063c0057t0001g0150 a0086c0103t0001g0007	5	152	0.0329	-13	c.631 others(32): Show c.6315-8099_6315-8087delAAAAAAAAAAAAA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	38/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALSU1_chr7_23294339_23316729	23315116	TTTTTATT others(6): Show TTTTTATTTTTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp2 NA19060.hp1 HG02523.hp1 HG02523.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0003 a0001c0001t0001g0012	3	434	0.0069	-13	c.55 others(24): Show c.5574_*5586delTTTTATTTTTTTA	MALSU1	ENSG00000156928.5	transcript	ENST00000466681.2	protein_coding		3388		chr7	TogoVar
MALT1_chr18_58666465_58759477	58738083	CCTACATC others(6): Show CCTACATCTAATTA	C C	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0290 a0001c0001t0002g0290	1	406	0.0025	-13	c.160 others(32): Show c.1603+2755_1603+2767delCTACATCTAATTA	MALT1	ENSG00000172175.16	transcript	ENST00000649217.2	protein_coding	13/16			chr18	TogoVar
MAMDC2_chr9_70038848_70231972	70078030	ATAATTTT others(6): Show ATAATTTTTATTAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(177): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18953.hp1 NA18954.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18979.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19066.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0015 a0016	a0001c0001 a0002c0002 a0002c0008 others(17): Show a0001c0001 a0002c0002 a0002c0008 a0002c0025 a0003c0003 a0003c0004 a0003c0007 a0003c0011 a0003c0028 a0004c0005 a0004c0009 a0005c0010 a0006c0012 a0008c0026 a0009c0024 a0010c0013 a0011c0019 a0012c0020 a0015c0021 a0016c0022	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(25): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0002c0002t0002 a0002c0002t0003 a0002c0008t0003 a0002c0025t0002 a0003c0003t0001 a0003c0003t0003 a0003c0003t0009 a0003c0004t0001 a0003c0004t0003 a0003c0004t0010 a0003c0007t0001 a0003c0011t0001 a0003c0028t0002 a0004c0005t0003 a0004c0009t0002 a0005c0010t0003 a0006c0012t0003 a0008c0026t0002 a0009c0024t0002 a0010c0013t0002 a0011c0019t0002 a0012c0020t0002 a0015c0021t0001 a0016c0022t0001	a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0033 others(175): Show a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0004g0013 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0025 a0001c0001t0004g0031 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0289 a0001c0001t0004g0302 a0001c0001t0005g0042 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0005g0074 a0001c0001t0006g0018 a0001c0001t0006g0091 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0138 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0003g0164 a0002c0002t0003g0165 a0002c0002t0003g0166 a0002c0008t0003g0034 a0002c0025t0002g0112 a0003c0003t0001g0104 a0003c0003t0003g0007 a0003c0003t0003g0103 a0003c0003t0003g0108 a0003c0003t0003g0167 a0003c0003t0003g0168 a0003c0003t0003g0169 a0003c0003t0003g0170 a0003c0003t0003g0171 a0003c0003t0003g0173 a0003c0003t0003g0174 a0003c0003t0003g0177 a0003c0003t0003g0178 a0003c0003t0003g0291 a0003c0003t0003g0292 a0003c0003t0003g0304 a0003c0003t0009g0180 a0003c0004t0001g0162 a0003c0004t0001g0163 a0003c0004t0003g0159 a0003c0004t0003g0172 a0003c0004t0003g0295 a0003c0004t0003g0338 a0003c0004t0010g0181 a0003c0007t0001g0001 a0003c0007t0001g0004 a0003c0007t0001g0005 a0003c0007t0001g0006 a0003c0011t0001g0175 a0003c0011t0001g0176 a0003c0028t0002g0155 a0004c0005t0003g0008 a0004c0005t0003g0009 a0004c0005t0003g0010 a0004c0005t0003g0011 a0004c0005t0003g0012 a0004c0005t0003g0161 a0004c0009t0002g0156 a0004c0009t0002g0157 a0005c0010t0003g0002 a0006c0012t0003g0160 a0008c0026t0002g0134 a0009c0024t0002g0146 a0010c0013t0002g0158 a0011c0019t0002g0139 a0012c0020t0002g0149 a0015c0021t0001g0078 a0016c0022t0001g0077	180	340	0.5294	-13	c.149 others(32): Show c.149-30180_149-30168delTAATTTTTATTAG	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	2/13			chr9	TogoVar
MAML2_chr11_95971598_96348195	95981526	GATACGTA others(6): Show GATACGTAGGTGGT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03130.hp1 HG01243.hp2 HG03130.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0001 a0004c0005t0048 a0001c0002t0001 a0004c0005t0048	a0001c0002t0001g0097 a0004c0005t0048g0230 a0001c0002t0001g0097 a0004c0005t0048g0230	2	230	0.0087	-13	c.245 others(32): Show c.2456-1576_2456-1564delACCACCTACGTAT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	4/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	95983143	TGTTATTG others(6): Show TGTTATTGTTCCTG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0008 a0007c0011t0008	a0007c0011t0008g0129 a0007c0011t0008g0129	1	230	0.0044	-13	c.245 others(32): Show c.2455+2375_2455+2387delCAGGAACAATAAC	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	4/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96025843	AAGCCACC others(6): Show AAGCCACCGCGCCC	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02630.hp2 HG02922.hp1 others(3): Show HG01123.hp2 HG02630.hp2 HG02922.hp1 HG02965.hp2 HG06807.hp1 NA19240.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0020 a0007c0011 a0001c0001 a0003c0020 a0007c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 a0003c0020t0026 a0007c0011t0008	a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0004g0171 others(3): Show a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0004g0171 a0001c0001t0019g0091 a0003c0020t0026g0003 a0007c0011t0008g0129	6	230	0.0261	-13	c.214 others(34): Show c.2140-34133_2140-34121delGGGCGCGGTGGCT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96100734	GCTTTTTT others(6): Show GCTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03490.hp2 HG02965.hp1 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0024 a0001c0001t0009 a0001c0001t0024	a0001c0001t0009g0080 a0001c0001t0024g0026 a0001c0001t0009g0080 a0001c0001t0024g0026	2	230	0.0087	-13	c.514 others(30): Show c.514-7230_514-7218delAAAAAAAAAAAAG	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96121950	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00642.hp1 others(33): Show HG00099.hp2 HG00639.hp2 HG00642.hp1 HG01069.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01891.hp1 HG01934.hp1 HG02300.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03098.hp1 HG03225.hp2 HG03516.hp1 HG03579.hp1 HG03834.hp2 HG03927.hp2 HG04228.hp2 HG06807.hp1 NA18955.hp2 NA18971.hp1 NA18991.hp2 NA18994.hp2 NA19007.hp1 NA19030.hp2 NA19240.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0008 a0016	a0001c0001 a0001c0013 a0002c0003 others(7): Show a0001c0001 a0001c0013 a0002c0003 a0003c0004 a0003c0006 a0003c0020 a0004c0008 a0005c0007 a0008c0016 a0016c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0016 a0001c0001t0019 a0001c0013t0044 a0002c0003t0008 a0003c0004t0006 a0003c0006t0006 a0003c0020t0026 a0004c0008t0001 a0004c0008t0037 a0005c0007t0007 a0008c0016t0009 a0008c0016t0014 a0016c0023t0006	a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0119 others(33): Show a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0148 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0204 a0001c0001t0001g0220 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0003g0157 a0001c0001t0003g0195 a0001c0001t0003g0219 a0001c0001t0004g0171 a0001c0001t0009g0063 a0001c0001t0016g0074 a0001c0001t0019g0091 a0001c0013t0044g0225 a0002c0003t0008g0185 a0003c0004t0006g0113 a0003c0006t0006g0099 a0003c0006t0006g0106 a0003c0006t0006g0112 a0003c0020t0026g0003 a0004c0008t0001g0165 a0004c0008t0001g0205 a0004c0008t0001g0208 a0004c0008t0037g0122 a0005c0007t0007g0071 a0008c0016t0009g0070 a0008c0016t0014g0072 a0016c0023t0006g0206	36	230	0.1565	-13	c.514 others(32): Show c.514-28446_514-28434delAAAAAAAAAAAAA	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96202177	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01109.hp2 others(8): Show HG01069.hp2 HG01071.hp2 HG01109.hp2 HG02132.hp2 HG02148.hp1 HG03491.hp2 HG03492.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp2 HG04228.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0021	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0003c0006 a0006c0009 a0021c0029	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0002t0020 a0002c0003t0004 a0002c0003t0008 a0003c0004t0010 a0003c0006t0010 a0006c0009t0023 a0021c0029t0001	a0001c0001t0002g0012 a0001c0001t0003g0136 a0001c0001t0013g0057 others(8): Show a0001c0001t0002g0012 a0001c0001t0003g0136 a0001c0001t0013g0057 a0001c0002t0020g0169 a0002c0003t0004g0160 a0002c0003t0008g0100 a0003c0004t0010g0022 a0003c0004t0010g0023 a0003c0006t0010g0013 a0006c0009t0023g0048 a0021c0029t0001g0164	11	230	0.0478	-13	c.514 others(34): Show c.514-108673_514-108661delTTTTTTTTTTTTT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96240557	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0026 a0001c0001t0024g0026	1	230	0.0044	-13	c.513 others(34): Show c.513+100813_513+100825delTTTTTTTTTTTTT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96243619	GCTGAAAG others(6): Show GCTGAAAGTGCCTT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03516.hp2 HG03209.hp2 HG03516.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0039 a0006c0009t0005 a0001c0001t0039 a0006c0009t0005	a0001c0001t0039g0179 a0006c0009t0005g0076 a0001c0001t0039g0179 a0006c0009t0005g0076	2	230	0.0087	-13	c.513 others(32): Show c.513+97751_513+97763delAAGGCACTTTCAG	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML3_chr4_139711753_140159184	139729156	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03195.hp2 HG03579.hp2 HG02922.hp1 HG03195.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0014 a0001c0002t0026 a0001c0010t0002 a0001c0002t0014 a0001c0002t0026 a0001c0010t0002	a0001c0002t0014g0148 a0001c0002t0026g0002 a0001c0010t0002g0092 a0001c0002t0014g0148 a0001c0002t0026g0002 a0001c0010t0002g0092	3	152	0.0197	-13	c.233 others(32): Show c.2331+1247_2331+1259delTTTTTTTTTTTTT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	3/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139819828	GACAAAAG others(6): Show GACAAAAGTCCTTC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00639.hp2 others(31): Show HG00140.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01257.hp2 HG01496.hp2 HG01981.hp1 HG02132.hp1 HG02135.hp2 HG02523.hp1 HG02965.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04199.hp2 HG04228.hp1 NA18939.hp1 NA18939.hp2 NA18963.hp2 NA19011.hp1 NA20805.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0008 a0011 a0015	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0005 a0004c0006 a0004c0012 a0004c0022 a0008c0013 a0011c0021 a0015c0025	a0001c0001t0001 a0001c0001t0006 a0001c0001t0020 others(20): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0020 a0001c0001t0030 a0001c0001t0045 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0009 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0006 a0001c0004t0019 a0002c0003t0001 a0003c0005t0002 a0004c0006t0004 a0004c0006t0008 a0004c0012t0008 a0004c0022t0004 a0008c0013t0004 a0011c0021t0012 a0015c0025t0003	a0001c0001t0001g0034 a0001c0001t0001g0052 a0001c0001t0006g0129 others(31): Show a0001c0001t0001g0034 a0001c0001t0001g0052 a0001c0001t0006g0129 a0001c0001t0020g0126 a0001c0001t0030g0022 a0001c0001t0045g0147 a0001c0002t0001g0027 a0001c0002t0002g0041 a0001c0002t0007g0076 a0001c0002t0009g0136 a0001c0004t0001g0016 a0001c0004t0001g0017 a0001c0004t0001g0035 a0001c0004t0001g0040 a0001c0004t0001g0108 a0001c0004t0002g0024 a0001c0004t0002g0038 a0001c0004t0002g0043 a0001c0004t0002g0060 a0001c0004t0002g0062 a0001c0004t0002g0077 a0001c0004t0003g0029 a0001c0004t0006g0133 a0001c0004t0019g0112 a0002c0003t0001g0070 a0003c0005t0002g0067 a0004c0006t0004g0058 a0004c0006t0008g0124 a0004c0006t0008g0127 a0004c0012t0008g0130 a0004c0022t0004g0105 a0008c0013t0004g0056 a0011c0021t0012g0071 a0015c0025t0003g0021	34	152	0.2237	-13	c.207 others(34): Show c.2079+69516_2079+69528delGAAGGACTTTTGT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139842762	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0046 a0002c0003t0046	a0002c0003t0046g0149 a0002c0003t0046g0149	1	152	0.0066	-13	c.207 others(34): Show c.2079+46582_2079+46594delAAAAAAAAAAAAA	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139965468	TGCCTTTG others(6): Show TGCCTTTGAGAATG	T T	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0022 a0002c0003t0022	a0002c0003t0022g0150 a0002c0003t0022g0150	1	152	0.0066	-13	c.469 others(32): Show c.469-74514_469-74502delCATTCTCAAAGGC	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAMLD1_chrX_150358317_150519173	150396149	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	226	0.0044	-13	c.-64 others(32): Show c.-64+32635_-64+32647delTTTTTTTTTTTTT	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAMLD1_chrX_150358317_150519173	150427564	ACCTGTCT others(6): Show ACCTGTCTCCTCAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(126): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01433.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02300.hp1 HG02602.hp1 HG02735.hp1 HG02738.hp1 HG02895.hp1 HG02897.hp2 HG03017.hp1 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18975.hp2 NA18977.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19079.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19089.hp1 NA19091.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0008	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0007c0010 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0004c0004t0003 a0007c0010t0001 a0008c0008t0002	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0016 others(126): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0218 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0041 a0001c0001t0002g0051 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0108 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0146 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0179 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0003g0060 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0093 a0001c0001t0003g0131 a0001c0001t0003g0135 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0199 a0001c0001t0004g0061 a0001c0001t0004g0118 a0001c0001t0004g0180 a0001c0001t0005g0223 a0001c0001t0006g0214 a0001c0001t0006g0215 a0001c0001t0006g0216 a0001c0001t0007g0213 a0001c0001t0008g0212 a0001c0001t0008g0226 a0001c0001t0009g0045 a0001c0001t0010g0057 a0001c0001t0012g0117 a0001c0001t0015g0035 a0001c0001t0017g0002 a0001c0001t0019g0062 a0002c0002t0001g0001 a0002c0002t0001g0204 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0225 a0002c0002t0002g0022 a0003c0003t0001g0017 a0003c0003t0001g0048 a0003c0003t0001g0077 a0003c0003t0001g0123 a0003c0003t0001g0137 a0003c0003t0002g0088 a0003c0003t0002g0157 a0003c0003t0002g0176 a0004c0004t0003g0095 a0004c0004t0003g0150 a0004c0004t0003g0195 a0007c0010t0001g0136 a0008c0008t0002g0147	129	226	0.5708	-13	c.-63 others(32): Show c.-63-17886_-63-17874delGTCTCCTCATCCT	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAN1A1_chr6_119172205_119354761	119182097	ACTGTGGT others(6): Show ACTGTGGTTCTAAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	350	0.0029	-13	c.172 others(32): Show c.1720-1683_1720-1671delATTAGAACCACAG	MAN1A1	ENSG00000111885.7	transcript	ENST00000368468.4	protein_coding	11/12			chr6	TogoVar
MAN1A1_chr6_119172205_119354761	119275277	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG00642.hp1 others(32): Show HG00408.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00738.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01516.hp1 HG01884.hp1 HG01981.hp1 HG02258.hp2 HG02451.hp2 HG02523.hp2 HG02615.hp2 HG02683.hp1 HG02698.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG03195.hp1 HG03471.hp2 HG03704.hp1 HG04199.hp1 NA18939.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0029 a0001c0001t0038 a0001c0002t0002 a0001c0003t0004 a0001c0013t0016	a0001c0001t0001g0157 a0001c0001t0001g0292 a0001c0001t0001g0303 others(32): Show a0001c0001t0001g0157 a0001c0001t0001g0292 a0001c0001t0001g0303 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0002g0290 a0001c0001t0002g0295 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0327 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0003g0319 a0001c0001t0003g0325 a0001c0001t0003g0336 a0001c0001t0003g0337 a0001c0001t0004g0025 a0001c0001t0004g0062 a0001c0001t0006g0031 a0001c0001t0012g0281 a0001c0001t0012g0282 a0001c0001t0012g0283 a0001c0001t0015g0306 a0001c0001t0015g0307 a0001c0001t0015g0308 a0001c0001t0016g0109 a0001c0001t0029g0334 a0001c0001t0038g0287 a0001c0002t0002g0316 a0001c0002t0002g0335 a0001c0002t0002g0340 a0001c0003t0004g0014 a0001c0013t0016g0345	35	350	0.1000	-13	c.897 others(32): Show c.897+15393_897+15405delAAAAAAAAAAAAA	MAN1A1	ENSG00000111885.7	transcript	ENST00000368468.4	protein_coding	5/12			chr6	TogoVar
MAN1A2_chr1_117362449_117533872	117401808	CTTATTTT others(6): Show CTTATTTTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0029 a0001c0001t0110g0029	1	370	0.0027	-13	c.303 others(28): Show c.303-376_303-364delTATTTTTTTCTTT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117482708	GTAGTTTC others(6): Show GTAGTTTCTTTTGC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01256.hp2 HG01358.hp2 others(22): Show HG00597.hp2 HG01256.hp2 HG01358.hp2 HG01496.hp1 HG01516.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02148.hp2 HG02293.hp2 HG02738.hp2 HG03688.hp2 NA18946.hp2 NA18948.hp2 NA18952.hp2 NA18955.hp1 NA18967.hp2 NA18970.hp2 NA19003.hp2 NA19065.hp1 NA19074.hp1 NA19082.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0056 a0001c0001t0057 others(19): Show a0001c0001t0017 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0154 a0001c0001t0155 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0001t0160 a0001c0001t0161 a0001c0001t0162 a0001c0001t0164 a0001c0001t0165 a0001c0001t0168 a0001c0001t0169 a0001c0001t0174 a0001c0001t0175 a0001c0001t0177 a0001c0001t0178 a0001c0001t0183 a0001c0001t0213	a0001c0001t0017g0232 a0001c0001t0017g0246 a0001c0001t0056g0255 others(22): Show a0001c0001t0017g0232 a0001c0001t0017g0246 a0001c0001t0056g0255 a0001c0001t0056g0259 a0001c0001t0057g0261 a0001c0001t0058g0226 a0001c0001t0058g0227 a0001c0001t0154g0242 a0001c0001t0155g0263 a0001c0001t0156g0260 a0001c0001t0157g0258 a0001c0001t0158g0244 a0001c0001t0160g0257 a0001c0001t0161g0262 a0001c0001t0162g0256 a0001c0001t0164g0236 a0001c0001t0165g0245 a0001c0001t0168g0243 a0001c0001t0169g0248 a0001c0001t0174g0239 a0001c0001t0175g0233 a0001c0001t0177g0235 a0001c0001t0178g0237 a0001c0001t0183g0254 a0001c0001t0213g0216	25	370	0.0676	-13	c.116 others(34): Show c.1169-10438_1169-10426delTAGTTTCTTTTGC	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	8/12			chr1	TogoVar
MAN1C1_chr1_25611791_25789450	25616730	TGGGCGTG others(6): Show TGGGCGTGGCCGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01070.hp2 HG01071.hp1 others(5): Show HG00741.hp2 HG01070.hp2 HG01071.hp1 HG02109.hp1 HG02486.hp1 HG02895.hp2 HG03209.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0029 a0001c0002t0001g0228 a0001c0002t0001g0230 others(5): Show a0001c0001t0001g0029 a0001c0002t0001g0228 a0001c0002t0001g0230 a0001c0002t0001g0232 a0001c0003t0001g0231 a0001c0003t0001g0237 a0001c0003t0001g0243 a0001c0005t0001g0229	8	250	0.0320	-13	c.-10 others(24): Show c.-1067_-1055delGGGCGTGGCCGGC	MAN1C1	ENSG00000117643.16	transcript	ENST00000374332.9	protein_coding		60		chr1	TogoVar
MAN2A1_chr5_109684927_109874625	109769132	AACCTTTT others(6): Show AACCTTTTGTGGCG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0241 a0002c0002t0002g0241	1	296	0.0034	-13	c.101 others(32): Show c.1010-1220_1010-1208delCTTTTGTGGCGAC	MAN2A1	ENSG00000112893.10	transcript	ENST00000261483.5	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
MANBA_chr4_102625770_102765968	102709390	GAAAGAAA others(6): Show GAAAGAAAGAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(11): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00639.hp2 HG01070.hp2 HG01071.hp1 HG01167.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01515.hp2 HG01981.hp2 NA19043.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0011 a0002c0002t0022 a0002c0002t0002 a0002c0002t0011 a0002c0002t0022	a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 others(11): Show a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0032 a0002c0002t0002g0079 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0235 a0002c0002t0011g0078 a0002c0002t0022g0233 a0002c0002t0022g0239	14	280	0.0500	-13	c.673 others(30): Show c.673+5035_673+5047delTTTTTCTTTCTTT	MANBA	ENSG00000109323.11	transcript	ENST00000647097.2	protein_coding	5/16			chr4	TogoVar
MANBA_chr4_102625770_102765968	102761830	CTTATTTC others(6): Show CTTATTTCGGGTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0101 a0002c0002t0002g0101	1	280	0.0036	-13	c.-94 others(22): Show c.-949_-937delAGACCCGAAATAA	MANBA	ENSG00000109323.11	transcript	ENST00000647097.2	protein_coding		863		chr4	TogoVar
MANEAL_chr1_37788847_37806133	37791611	CATCCCAG others(6): Show CATCCCAGAAATAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	438	0.0023	-13	c.-25 others(24): Show c.-2571_-2559delATCCCAGAAATAG	MANEAL	ENSG00000185090.15	transcript	ENST00000373045.11	protein_coding		2235		chr1	TogoVar

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