Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MACROD2_chr20_13990516_16058197	14522240	AGATAGGT others(15): Show AGATAGGTCCTCAACATTAGCAG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	1	24	0.0417	-22	c.301 others(41): Show c.301+28734_301+28755delATAGGTCCTCAACATTAGCAGG	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	15113763	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0013 a0002c0002t0007g0013	1	24	0.0417	-22	c.419 others(43): Show c.419-116161_419-116140delTGTGTGTGTGTGTGTGTGTGTG	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	15921458	TCCTGGAC others(15): Show TCCTGGACGTGCTCTTCACTCCA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0009 a0001c0001t0011g0009	1	24	0.0417	-22	c.776 others(41): Show c.776-11811_776-11790delCGTGCTCTTCACTCCACCTGGA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAD1L1_chr7_1810795_2237945	2067578	GAACCCCC others(15): Show GAACCCCCGCAGTGGTCAGCCCA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp2 HG01255.hp1 others(24): Show HG01081.hp1 HG01243.hp2 HG01255.hp1 HG01891.hp2 HG02055.hp1 HG02145.hp2 HG02451.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0006t0001 a0001c0007t0004	a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 others(24): Show a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0243 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0002g0166 a0001c0003t0001g0074 a0001c0006t0001g0158 a0001c0006t0001g0237 a0001c0007t0004g0078	27	264	0.1023	-22	c.121 others(41): Show c.1218+1594_1218+1615delTGGGCTGACCACTGCGGGGGTT	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2160206	GGTGACAG others(15): Show GGTGACAGACAGAATGATACCCT	G G	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	264	0.0038	-22	c.987 others(41): Show c.987-10990_987-10969delAGGGTATCATTCTGTCTGTCAC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAEA_chr4_1284891_1345137	1324411	CTGGTGTT others(15): Show CTGGTGTTGGATGAAGTTGAGAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00544.hp2 others(46): Show HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG01069.hp1 HG01071.hp1 HG01255.hp2 HG01884.hp1 HG02015.hp1 HG02040.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02135.hp2 HG02155.hp1 HG02280.hp1 HG02451.hp1 HG02647.hp2 HG02683.hp1 HG02738.hp2 HG03130.hp1 HG03491.hp2 HG03516.hp1 HG03579.hp2 HG03704.hp1 HG04115.hp1 HG04204.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp2 NA18947.hp2 NA18951.hp1 NA18971.hp2 NA18983.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp2 NA18999.hp2 NA19030.hp1 NA19054.hp1 NA19057.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0009 a0001c0011 others(1): Show a0001c0002 a0001c0009 a0001c0011 a0004c0008	a0001c0002t0001 a0001c0002t0003 a0001c0002t0011 others(3): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0011 a0001c0009t0001 a0001c0011t0001 a0004c0008t0001	a0001c0002t0001g0001 a0001c0002t0001g0080 a0001c0002t0001g0081 others(44): Show a0001c0002t0001g0001 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0165 a0001c0002t0001g0168 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0003g0091 a0001c0002t0003g0116 a0001c0002t0011g0087 a0001c0009t0001g0103 a0001c0011t0001g0166 a0004c0008t0001g0101	49	388	0.1263	-22	c.579 others(39): Show c.579+1934_579+1955delTGTTGGATGAAGTTGAGATTGG	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1337820	TCCTGTGA others(15): Show TCCTGTGACTGACTCTGTCCCCA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	388	0.0026	-22	c.900 others(37): Show c.900-566_900-545delCTGTCCCCACCTGTGACTGACT	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEL_chr1_166984280_167027214	167006601	CTATATAT others(15): Show CTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02886.hp2 HG03209.hp2 HG02280.hp1 HG02886.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0186 a0001c0003t0001g0044 a0001c0001t0001g0186 a0001c0003t0001g0044	3	408	0.0074	-22	c.845 others(39): Show c.845+1219_845+1240delTATATATATATATATATATATA	MAEL	ENSG00000143194.13	transcript	ENST00000367872.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGEA1_chrX_153174284_153188880	153178524	CATCCCTC others(15): Show CATCCCTCCCCCTACCACCCCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01243.hp1 HG02109.hp2 others(7): Show HG00735.hp1 HG01243.hp1 HG02109.hp2 HG02486.hp1 HG02559.hp2 HG02895.hp1 HG02897.hp2 HG03098.hp1 HG03453.hp2 HG03516.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0006 a0003c0004t0004 a0003c0004t0006	a0003c0004t0004g0006 a0003c0004t0004g0014 a0003c0004t0006g0006 a0003c0004t0004g0006 a0003c0004t0004g0014 a0003c0004t0006g0006	10	343	0.0292	-22	c.-97 others(31): Show c.-979_-958delATCCCTCCCCCTACCACCCCCA	MAGEA1	ENSG00000198681.7	transcript	ENST00000356661.7	protein_coding		759		chrX	TogoVar
MAGI1_chr3_65348526_66043918	65530624	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03098.hp1 HG03225.hp1 others(1): Show HG02970.hp2 HG03098.hp1 HG03225.hp1 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0005 a0005c0006 a0001c0005 a0005c0006	a0001c0005t0001 a0005c0006t0001 a0001c0005t0001 a0005c0006t0001	a0001c0005t0001g0006 a0005c0006t0001g0054 a0005c0006t0001g0095 others(1): Show a0001c0005t0001g0006 a0005c0006t0001g0054 a0005c0006t0001g0095 a0005c0006t0001g0100	4	104	0.0385	-22	c.431 others(41): Show c.431-37015_431-36994delACACACACACACACACACACAC	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	2/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65849001	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	104	0.0096	-22	c.313 others(43): Show c.313+188973_313+188994delAAAAAAAAAAAAAAAAAAAAAA	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65891885	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG00741.hp2 others(1): Show HG00735.hp2 HG00738.hp1 HG00741.hp2 HG02970.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0064 a0001c0001t0001g0072 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0064 a0001c0001t0001g0072 a0004c0004t0001g0073	4	104	0.0385	-22	c.313 others(43): Show c.313+146089_313+146110delATATATATATATATATATATAT	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI2_chr7_78012055_79458667	78083383	GGGGGGAG others(15): Show GGGGGGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0012 a0001c0003t0002g0012	1	40	0.0250	-22	c.356 others(41): Show c.3568-4320_3568-4299delTCTCTCTCTCTCTCTCTCCCCC	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	20/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	78291834	TACGATTA others(15): Show TACGATTATCTCAATAGATGCGG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00639.hp2 others(12): Show HG00140.hp1 HG00140.hp2 HG00639.hp2 HG02451.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp2 HG03225.hp1 HG03486.hp1 NA18522.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0001c0012 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0002 a0001c0003t0004 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0010t0002 a0001c0012t0001 a0001c0013t0001	a0001c0001t0001g0036 a0001c0001t0002g0006 a0001c0001t0002g0020 others(12): Show a0001c0001t0001g0036 a0001c0001t0002g0006 a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0002t0001g0024 a0001c0003t0002g0004 a0001c0003t0002g0012 a0001c0003t0004g0002 a0001c0004t0001g0018 a0001c0005t0001g0005 a0001c0007t0001g0040 a0001c0010t0002g0021 a0001c0012t0001g0022 a0001c0013t0001g0039	15	40	0.3750	-22	c.140 others(43): Show c.1409-35275_1409-35254delCCGCATCTATTGAGATAATCGT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	9/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	78573365	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0014 a0001c0004t0001g0014	1	40	0.0250	-22	c.539 others(41): Show c.539-51742_539-51721delATATATATATATATATATATAT	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	3/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	79147746	GGAATGGA others(15): Show GGAATGGAGCAGGAGGGACAGGA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03225.hp2 HG01261.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0005 a0001c0003t0003 a0001c0002t0005 a0001c0003t0003	a0001c0002t0005g0003 a0001c0003t0003g0001 a0001c0002t0005g0003 a0001c0003t0003g0001	2	40	0.0500	-22	c.302 others(43): Show c.302-140562_302-140541delTCCTGTCCCTCCTGCTCCATTC	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	79213236	GTGTATAT others(15): Show GTGTATATATGTGGGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0019 a0001c0009t0001g0019	1	40	0.0250	-22	c.302 others(43): Show c.302-206052_302-206031delTATACACACCCACATATATACA	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAGI2_chr7_78012055_79458667	79378924	GTGTATAT others(15): Show GTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0027 a0001c0015t0001g0027	1	40	0.0250	-22	c.301 others(41): Show c.301+74074_301+74095delTATATATATATATATATATACA	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAGI3_chr1_113385515_113690923	113633238	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	236	0.0042	-22	c.136 others(41): Show c.1361-8653_1361-8632delTTTTTTTTTTTTTTTTTTTTTT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAJIN_chr11_64933230_64977108	64948619	ATATATAT others(15): Show ATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18991.hp2 NA18946.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0188 a0001c0001t0001g0059 a0001c0001t0001g0188	2	384	0.0052	-22	c.350 others(37): Show c.350-822_350-801delAATATATATATATATATATATA	MAJIN	ENSG00000168070.12	transcript	ENST00000301896.6	protein_coding	6/10			chr11	TogoVar
MAJIN_chr11_64933230_64977108	64948621	ATATATAT others(15): Show ATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	384	0.0026	-22	c.350 others(37): Show c.350-824_350-803delAAAATATATATATATATATATA	MAJIN	ENSG00000168070.12	transcript	ENST00000301896.6	protein_coding	6/10			chr11	TogoVar
MAK16_chr8_33480182_33506262	33481073	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03831.hp1 NA19240.hp1 HG03017.hp2 HG03831.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0015 a0001c0001t0001 a0002c0002t0015	a0001c0001t0001g0021 a0001c0001t0001g0052 a0002c0002t0015g0003 a0001c0001t0001g0021 a0001c0001t0001g0052 a0002c0002t0015g0003	3	400	0.0075	-22	c.-41 others(33): Show c.-4133_-4112delTTTTTTTTTTTTTTTTTTTTTT	MAK16	ENSG00000198042.11	transcript	ENST00000360128.11	protein_coding		4108		chr8	TogoVar
MAK_chr6_10757723_10843539	10813080	GTATTTTT others(15): Show GTATTTTTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	272	0.0037	-22	c.358 others(37): Show c.358+542_358+563delTATATATATATATATAAAAATA	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	5/14			chr6	TogoVar
MAK_chr6_10757723_10843539	10813113	TATATATA others(15): Show TATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00642.hp1 HG01168.hp2 others(9): Show HG00423.hp2 HG00642.hp1 HG01168.hp2 HG01255.hp1 HG01346.hp1 HG01952.hp2 HG01978.hp2 HG02040.hp2 HG02257.hp2 HG02683.hp2 HG03490.hp1 NA19043.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0005 a0006c0007 a0001c0001 a0001c0005 a0006c0007	a0001c0001t0001 a0001c0005t0002 a0006c0007t0001 a0001c0001t0001 a0001c0005t0002 a0006c0007t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0055 others(9): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0105 a0001c0001t0001g0123 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0005t0002g0116 a0006c0007t0001g0078	12	272	0.0441	-22	c.358 others(37): Show c.358+509_358+530delTTATATATATATATATATATAT	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	5/14			chr6	TogoVar
MAK_chr6_10757723_10843539	10813116	ATATATAT others(15): Show ATATATATATATATATATAAATT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00558.hp1 others(20): Show HG00099.hp2 HG00408.hp2 HG00558.hp1 HG00621.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01258.hp2 HG01358.hp1 HG01433.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02132.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG03927.hp1 HG04228.hp2 NA19066.hp1 NA19078.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0002t0003	a0001c0001t0001g0003 a0001c0001t0001g0049 a0001c0001t0001g0058 others(20): Show a0001c0001t0001g0003 a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0002g0130 a0001c0001t0014g0020 a0001c0002t0003g0134 a0001c0002t0003g0137	23	272	0.0846	-22	c.358 others(37): Show c.358+506_358+527delAATTTATATATATATATATATA	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	5/14			chr6	TogoVar
MAK_chr6_10757723_10843539	10813118	ATATATAT others(15): Show ATATATATATATATATAAATTTT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02056.hp1 HG01106.hp2 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0146 a0001c0001t0001g0109 a0001c0001t0001g0146	2	272	0.0074	-22	c.358 others(37): Show c.358+504_358+525delAAAATTTATATATATATATATA	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	5/14			chr6	TogoVar
MAK_chr6_10757723_10843539	10815912	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	272	0.0037	-22	c.278 others(39): Show c.278+1916_278+1937delTATATATATATATATATATATA	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	4/14			chr6	TogoVar
MALRD1_chr10_19043801_19739478	19237600	TTATAATT others(15): Show TTATAATTATAATTATATAATTA	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0070 a0070	a0070c0080 a0070c0080	a0070c0080t0001 a0070c0080t0001	a0070c0080t0001g0058 a0070c0080t0001g0058	1	152	0.0066	-22	c.299 others(43): Show c.2992-20065_2992-20044delATTATATAATTATAATTATATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19341492	ATGTATAT others(15): Show ATGTATATATGTATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02486.hp1 HG01884.hp2 HG02109.hp1 HG02486.hp1	a0029 a0038 a0050 a0029 a0038 a0050	a0029c0021 a0038c0042 a0050c0049 a0029c0021 a0038c0042 a0050c0049	a0029c0021t0002 a0038c0042t0001 a0050c0049t0001 a0029c0021t0002 a0038c0042t0001 a0050c0049t0001	a0029c0021t0002g0092 a0038c0042t0001g0023 a0050c0049t0001g0022 a0029c0021t0002g0092 a0038c0042t0001g0023 a0050c0049t0001g0022	3	152	0.0197	-22	c.390 others(41): Show c.3902-6259_3902-6238delGTGTGTATATATGTATATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	24/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19719223	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0055 a0055	a0055c0074 a0055c0074	a0055c0074t0001 a0055c0074t0001	a0055c0074t0001g0139 a0055c0074t0001g0139	1	152	0.0066	-22	c.631 others(43): Show c.6315-11468_6315-11447delATATATATATATATATATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	38/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAMDC2_chr9_70038848_70231972	70099980	AAGAGAGA others(15): Show AAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG02615.hp1 others(2): Show HG01891.hp1 HG02451.hp2 HG02615.hp1 HG03225.hp1 NA19043.hp2	a0003 a0006 a0003 a0006	a0003c0004 a0006c0012 a0003c0004 a0006c0012	a0003c0004t0003 a0006c0012t0003 a0003c0004t0003 a0006c0012t0003	a0003c0004t0003g0159 a0003c0004t0003g0172 a0003c0004t0003g0295 others(2): Show a0003c0004t0003g0159 a0003c0004t0003g0172 a0003c0004t0003g0295 a0003c0004t0003g0338 a0006c0012t0003g0160	5	340	0.0147	-22	c.149 others(39): Show c.149-8208_149-8187delAGAGAGAGAGAGAGAGAGAGAG	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70118297	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG01175.hp2 others(16): Show HG00408.hp1 HG00544.hp2 HG01175.hp2 HG02055.hp2 HG03041.hp1 HG03098.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03927.hp2 NA18612.hp2 NA18946.hp2 NA18966.hp1 NA18988.hp2 NA19000.hp1 NA19007.hp1 NA19011.hp1 NA19064.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0016 a0001c0001 a0001c0015 a0001c0016	a0001c0001t0001 a0001c0015t0001 a0001c0016t0001 a0001c0001t0001 a0001c0015t0001 a0001c0016t0001	a0001c0001t0001g0003 a0001c0001t0001g0294 a0001c0001t0001g0306 others(16): Show a0001c0001t0001g0003 a0001c0001t0001g0294 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0314 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0015t0001g0310 a0001c0016t0001g0309	19	340	0.0559	-22	c.643 others(39): Show c.643+5195_643+5216delCACACACACACACACACACACA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC4_chr9_136847346_136865799	136847421	CCCAGGGC others(15): Show CCCAGGGCCGCCCCCGAGCCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0015 a0015	a0015c0040 a0015c0040	a0015c0040t0001 a0015c0040t0001	a0015c0040t0001g0049 a0015c0040t0001g0049	1	350	0.0029	-22	c.-49 others(33): Show c.-4995_-4974delCCAGGGCCGCCCCCGAGCCCCG	MAMDC4	ENSG00000177943.14	transcript	ENST00000317446.7	protein_coding		4924		chr9	TogoVar
MAML2_chr11_95971598_96348195	96002700	TGGGGATG others(15): Show TGGGGATGATAAGGAGGACGATG	T T	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0021 a0001c0001t0016g0021	1	230	0.0044	-22	c.214 others(43): Show c.2140-10999_2140-10978delCATCGTCCTCCTTATCATCCCC	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96035343	GTGCGTGT others(15): Show GTGCGTGTTTTAGGTATGCCCAT	G G	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0068 a0001c0002t0002g0068	1	230	0.0044	-22	c.214 others(43): Show c.2140-43642_2140-43621delATGGGCATACCTAAAACACGCA	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96155509	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00438.hp1 others(39): Show HG00099.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG01261.hp2 HG01891.hp1 HG02004.hp1 HG02071.hp1 HG02080.hp2 HG02132.hp1 HG02148.hp1 HG02735.hp1 HG02886.hp2 HG03017.hp1 HG03041.hp1 HG03490.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18906.hp1 NA18949.hp2 NA18953.hp1 NA18968.hp2 NA18982.hp2 NA18983.hp1 NA18994.hp1 NA18994.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19009.hp1 NA19043.hp1 NA19072.hp1 NA19084.hp2 NA19240.hp1	a0001 a0003 a0020 others(1): Show a0001 a0003 a0020 a0021	a0001c0001 a0001c0002 a0001c0025 others(5): Show a0001c0001 a0001c0002 a0001c0025 a0001c0026 a0003c0004 a0003c0006 a0020c0028 a0021c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0016 a0001c0001t0034 a0001c0001t0047 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0013 a0001c0025t0002 a0001c0026t0001 a0003c0004t0010 a0003c0004t0017 a0003c0006t0006 a0003c0006t0010 a0020c0028t0014 a0021c0029t0001	a0001c0001t0001g0131 a0001c0001t0001g0154 a0001c0001t0001g0217 others(39): Show a0001c0001t0001g0131 a0001c0001t0001g0154 a0001c0001t0001g0217 a0001c0001t0002g0007 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0062 a0001c0001t0002g0082 a0001c0001t0003g0142 a0001c0001t0003g0157 a0001c0001t0003g0209 a0001c0001t0007g0075 a0001c0001t0009g0063 a0001c0001t0009g0080 a0001c0001t0016g0021 a0001c0001t0034g0153 a0001c0001t0047g0228 a0001c0002t0001g0147 a0001c0002t0001g0151 a0001c0002t0001g0158 a0001c0002t0002g0024 a0001c0002t0002g0041 a0001c0002t0002g0061 a0001c0002t0002g0068 a0001c0002t0003g0115 a0001c0002t0003g0138 a0001c0002t0003g0197 a0001c0002t0003g0211 a0001c0002t0005g0036 a0001c0002t0005g0054 a0001c0002t0007g0028 a0001c0002t0008g0127 a0001c0002t0013g0045 a0001c0025t0002g0052 a0001c0026t0001g0109 a0003c0004t0010g0040 a0003c0004t0017g0067 a0003c0006t0006g0099 a0003c0006t0010g0008 a0020c0028t0014g0009 a0021c0029t0001g0164	42	230	0.1826	-22	c.514 others(41): Show c.514-62014_514-61993delATATATATATATATATATATAT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML3_chr4_139711753_140159184	139978911	CACTTTCA others(15): Show CACTTTCAAAGAGCTCTATGACT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(84): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01981.hp1 HG01981.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03710.hp1 HG03834.hp2 HG03942.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18991.hp1 NA18991.hp2 NA19011.hp2 NA19065.hp1 NA19065.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0012 a0015	a0001c0001 a0001c0002 a0001c0004 others(16): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0001c0011 a0001c0015 a0001c0023 a0002c0003 a0003c0005 a0004c0006 a0004c0020 a0005c0007 a0005c0014 a0006c0008 a0007c0009 a0008c0013 a0010c0024 a0012c0026 a0015c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(59): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0039 a0001c0001t0042 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0014 a0001c0002t0016 a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 a0001c0004t0024 a0001c0010t0001 a0001c0010t0011 a0001c0010t0013 a0001c0011t0001 a0001c0011t0002 a0001c0011t0005 a0001c0015t0001 a0001c0023t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0006 a0002c0003t0022 a0002c0003t0032 a0002c0003t0046 a0003c0005t0001 a0003c0005t0002 a0003c0005t0003 a0003c0005t0005 a0003c0005t0007 a0003c0005t0015 a0003c0005t0027 a0004c0006t0004 a0004c0006t0008 a0004c0006t0043 a0004c0020t0035 a0005c0007t0014 a0005c0014t0001 a0006c0008t0001 a0006c0008t0009 a0006c0008t0029 a0007c0009t0014 a0008c0013t0004 a0008c0013t0037 a0010c0024t0038 a0012c0026t0041 a0015c0025t0003	a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0028 others(84): Show a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0052 a0001c0001t0002g0037 a0001c0001t0003g0050 a0001c0001t0006g0129 a0001c0001t0007g0072 a0001c0001t0007g0091 a0001c0001t0009g0121 a0001c0001t0009g0132 a0001c0001t0018g0111 a0001c0001t0018g0114 a0001c0001t0020g0126 a0001c0001t0021g0134 a0001c0001t0021g0135 a0001c0001t0028g0061 a0001c0001t0030g0022 a0001c0001t0031g0083 a0001c0001t0033g0033 a0001c0001t0039g0116 a0001c0001t0042g0119 a0001c0002t0001g0020 a0001c0002t0001g0027 a0001c0002t0001g0098 a0001c0002t0002g0093 a0001c0002t0003g0039 a0001c0002t0005g0015 a0001c0002t0014g0148 a0001c0002t0016g0006 a0001c0002t0016g0007 a0001c0004t0001g0032 a0001c0004t0001g0040 a0001c0004t0002g0038 a0001c0004t0002g0043 a0001c0004t0002g0060 a0001c0004t0002g0062 a0001c0004t0002g0080 a0001c0004t0006g0133 a0001c0004t0024g0001 a0001c0010t0001g0055 a0001c0010t0011g0057 a0001c0010t0013g0142 a0001c0011t0001g0103 a0001c0011t0002g0013 a0001c0011t0005g0019 a0001c0015t0001g0051 a0001c0023t0002g0075 a0002c0003t0001g0070 a0002c0003t0001g0074 a0002c0003t0001g0086 a0002c0003t0002g0101 a0002c0003t0003g0046 a0002c0003t0003g0089 a0002c0003t0006g0137 a0002c0003t0022g0150 a0002c0003t0032g0048 a0002c0003t0046g0149 a0003c0005t0001g0053 a0003c0005t0002g0067 a0003c0005t0002g0100 a0003c0005t0003g0073 a0003c0005t0005g0087 a0003c0005t0005g0088 a0003c0005t0007g0045 a0003c0005t0015g0008 a0003c0005t0027g0004 a0004c0006t0004g0025 a0004c0006t0004g0058 a0004c0006t0004g0078 a0004c0006t0008g0124 a0004c0006t0008g0127 a0004c0006t0008g0131 a0004c0006t0043g0151 a0004c0020t0035g0047 a0005c0007t0014g0139 a0005c0014t0001g0031 a0006c0008t0001g0049 a0006c0008t0009g0128 a0006c0008t0029g0094 a0007c0009t0014g0143 a0008c0013t0004g0056 a0008c0013t0037g0117 a0010c0024t0038g0113 a0012c0026t0041g0125 a0015c0025t0003g0021	87	152	0.5724	-22	c.469 others(41): Show c.469-87966_469-87945delAGTCATAGAGCTCTTTGAAAGT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	140083961	CACACACA others(15): Show CACACACAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG01069.hp1 others(6): Show HG00280.hp2 HG00735.hp2 HG01069.hp1 HG01496.hp1 HG01884.hp1 HG02258.hp1 HG02630.hp1 HG03942.hp1 HG04199.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0007 a0016	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0011 a0003c0005 a0006c0008 a0007c0009 a0016c0028	a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 others(6): Show a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 a0001c0011t0001 a0001c0011t0002 a0003c0005t0015 a0006c0008t0009 a0007c0009t0014 a0016c0028t0001	a0001c0001t0001g0109 a0001c0002t0002g0093 a0001c0004t0001g0069 others(6): Show a0001c0001t0001g0109 a0001c0002t0002g0093 a0001c0004t0001g0069 a0001c0011t0001g0103 a0001c0011t0002g0013 a0003c0005t0015g0008 a0006c0008t0009g0128 a0007c0009t0014g0143 a0016c0028t0001g0059	9	152	0.0592	-22	c.468 others(41): Show c.468+68877_468+68898delCTCTCTCTCTCTCTCTGTGTGT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAN1A1_chr6_119172205_119354761	119275277	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03195.hp2 HG02258.hp1 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0240 a0001c0002t0001g0280 a0001c0002t0001g0240 a0001c0002t0001g0280	2	350	0.0057	-22	c.897 others(41): Show c.897+15384_897+15405delAAAAAAAAAAAAAAAAAAAAAA	MAN1A1	ENSG00000111885.7	transcript	ENST00000368468.4	protein_coding	5/12			chr6	TogoVar
MAN1A2_chr1_117362449_117533872	117434747	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0307 a0001c0001t0003g0307	1	370	0.0027	-22	c.856 others(39): Show c.856-7456_856-7435delGTGTGTGTGTGTGTGTGTGTGT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN2A1_chr5_109684927_109874625	109759952	TATATATA others(15): Show TATATATATATATAGATAGATAG	T T	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0271 a0002c0002t0002g0271	1	296	0.0034	-22	c.835 others(39): Show c.835+4500_835+4521delTATATATATAGATAGATAGATA	MAN2A1	ENSG00000112893.10	transcript	ENST00000261483.5	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAN2A1_chr5_109684927_109874625	109759956	TATATATA others(15): Show TATATATATAGATAGATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0022 a0001c0006t0022	a0001c0006t0022g0035 a0001c0006t0022g0035	1	296	0.0034	-22	c.835 others(39): Show c.835+4504_835+4525delTATATAGATAGATAGATAGATA	MAN2A1	ENSG00000112893.10	transcript	ENST00000261483.5	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
MANBA_chr4_102625770_102765968	102627749	TTAATTTA others(15): Show TTAATTTAGCAGCTAAACATCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG03579.hp2 HG02630.hp1 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0023 a0001c0004t0005 a0001c0004t0023	a0001c0004t0005g0265 a0001c0004t0023g0004 a0001c0004t0005g0265 a0001c0004t0023g0004	2	280	0.0071	-22	c.42 others(33): Show c.4286_*4307delGAGATGTTTAGCTGCTAAATTA	MANBA	ENSG00000109323.11	transcript	ENST00000647097.2	protein_coding		3020		chr4	TogoVar
MANBA_chr4_102625770_102765968	102653220	GCACACAC others(15): Show GCACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(106): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01981.hp2 HG02015.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03492.hp1 HG03516.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18906.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18965.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18986.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19001.hp1 NA19009.hp2 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19062.hp2 NA19063.hp2 NA19068.hp1 NA19081.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008	a0001c0001 a0001c0009 a0002c0002 others(8): Show a0001c0001 a0001c0009 a0002c0002 a0002c0007 a0003c0003 a0003c0005 a0003c0010 a0004c0006 a0006c0013 a0007c0011 a0008c0012	a0001c0001t0001 a0001c0001t0006 a0001c0009t0024 others(25): Show a0001c0001t0001 a0001c0001t0006 a0001c0009t0024 a0002c0002t0002 a0002c0002t0007 a0002c0002t0011 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0016 a0002c0002t0017 a0002c0002t0022 a0002c0002t0032 a0002c0007t0007 a0002c0007t0017 a0003c0003t0007 a0003c0003t0013 a0003c0003t0014 a0003c0003t0016 a0003c0003t0030 a0003c0005t0008 a0003c0005t0012 a0003c0005t0021 a0003c0010t0016 a0004c0006t0001 a0006c0013t0002 a0007c0011t0029 a0008c0012t0002	a0001c0001t0001g0254 a0001c0001t0006g0077 a0001c0001t0006g0081 others(105): Show a0001c0001t0001g0254 a0001c0001t0006g0077 a0001c0001t0006g0081 a0001c0009t0024g0005 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0032 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0057 a0002c0002t0002g0059 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0111 a0002c0002t0002g0114 a0002c0002t0002g0120 a0002c0002t0002g0124 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0134 a0002c0002t0002g0213 a0002c0002t0002g0235 a0002c0002t0002g0245 a0002c0002t0002g0270 a0002c0002t0002g0277 a0002c0002t0007g0046 a0002c0002t0007g0056 a0002c0002t0007g0259 a0002c0002t0011g0060 a0002c0002t0011g0067 a0002c0002t0011g0073 a0002c0002t0011g0078 a0002c0002t0011g0096 a0002c0002t0011g0122 a0002c0002t0013g0064 a0002c0002t0014g0033 a0002c0002t0014g0116 a0002c0002t0015g0058 a0002c0002t0015g0113 a0002c0002t0016g0125 a0002c0002t0016g0249 a0002c0002t0017g0049 a0002c0002t0017g0119 a0002c0002t0017g0132 a0002c0002t0022g0233 a0002c0002t0022g0239 a0002c0002t0032g0100 a0002c0007t0007g0106 a0002c0007t0007g0108 a0002c0007t0007g0109 a0002c0007t0007g0110 a0002c0007t0007g0118 a0002c0007t0017g0107 a0003c0003t0007g0244 a0003c0003t0007g0258 a0003c0003t0013g0248 a0003c0003t0013g0255 a0003c0003t0013g0257 a0003c0003t0014g0256 a0003c0003t0016g0211 a0003c0003t0030g0117 a0003c0005t0008g0001 a0003c0005t0008g0006 a0003c0005t0008g0008 a0003c0005t0008g0009 a0003c0005t0008g0010 a0003c0005t0008g0012 a0003c0005t0008g0013 a0003c0005t0008g0017 a0003c0005t0008g0027 a0003c0005t0012g0015 a0003c0005t0021g0251 a0003c0005t0021g0252 a0003c0010t0016g0271 a0004c0006t0001g0035 a0004c0006t0001g0061 a0006c0013t0002g0272 a0007c0011t0029g0018 a0008c0012t0002g0103	109	280	0.3893	-22	c.170 others(41): Show c.1705-2541_1705-2520delTGTGTGTGTGTGTGTGTGTGTG	MANBA	ENSG00000109323.11	transcript	ENST00000647097.2	protein_coding	12/16			chr4	TogoVar
MANSC1_chr12_12321056_12355242	12344916	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01243.hp1 HG02004.hp1 others(13): Show HG00621.hp2 HG01243.hp1 HG02004.hp1 HG02132.hp1 NA18949.hp2 NA18986.hp2 NA18994.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19056.hp2 NA19078.hp2 NA19079.hp2 NA19082.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0001t0039 a0001c0001t0040 a0001c0001t0113 a0001c0002t0001 a0001c0002t0012	a0001c0001t0002g0026 a0001c0001t0005g0003 a0001c0001t0005g0241 others(10): Show a0001c0001t0002g0026 a0001c0001t0005g0003 a0001c0001t0005g0241 a0001c0001t0005g0242 a0001c0001t0015g0013 a0001c0001t0015g0243 a0001c0001t0039g0247 a0001c0001t0039g0297 a0001c0001t0040g0244 a0001c0001t0040g0246 a0001c0001t0113g0245 a0001c0002t0001g0132 a0001c0002t0012g0194	16	322	0.0497	-22	c.-10 others(41): Show c.-100-1524_-100-1503delATATATATATATATATATATAT	MANSC1	ENSG00000111261.14	transcript	ENST00000535902.6	protein_coding	1/3			chr12	TogoVar
MAOB_chrX_43761610_43887450	43857104	TATATATA others(15): Show TATATATATATATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	234	0.0043	-22	c.47- others(39): Show c.47-13362_47-13341delCTCTCTCTCTATATATATATAT	MAOB	ENSG00000069535.14	transcript	ENST00000378069.5	protein_coding	1/14			chrX	TogoVar
MAOB_chrX_43761610_43887450	43857110	TATATATA others(15): Show TATATATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA18612.hp1 HG00741.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0073 a0001c0001t0001g0023 a0001c0001t0001g0073	2	234	0.0086	-22	c.47- others(39): Show c.47-13368_47-13347delCTCTCTCTCTCTCTCTATATAT	MAOB	ENSG00000069535.14	transcript	ENST00000378069.5	protein_coding	1/14			chrX	TogoVar
MAOB_chrX_43761610_43887450	43857112	TATATAGA others(15): Show TATATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18522.hp1 HG01934.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0071 a0001c0001t0001g0072	2	234	0.0086	-22	c.47- others(39): Show c.47-13370_47-13349delCTCTCTCTCTCTCTCTCTATAT	MAOB	ENSG00000069535.14	transcript	ENST00000378069.5	protein_coding	1/14			chrX	TogoVar
MAOB_chrX_43761610_43887450	43857114	TATAGAGA others(15): Show TATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01361.hp1 HG02897.hp2 HG01358.hp1 HG01361.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070	3	234	0.0128	-22	c.47- others(39): Show c.47-13372_47-13351delCTCTCTCTCTCTCTCTCTCTAT	MAOB	ENSG00000069535.14	transcript	ENST00000378069.5	protein_coding	1/14			chrX	TogoVar
MAP1LC3A_chr20_34553718_34565345	34554354	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG03471.hp1 HG03471.hp2 others(5): Show HG02080.hp2 HG03471.hp1 HG03471.hp2 NA18961.hp1 NA18968.hp1 NA18978.hp2 NA18991.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	8	408	0.0196	-22	c.-45 others(33): Show c.-4514_-4493delTTTTTTTTTTTTTTTTTTTTTT	MAP1LC3A	ENSG00000101460.13	transcript	ENST00000360668.8	protein_coding		4363		chr20	TogoVar

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