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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MCTP2_chr15_94226561_94488952	94390054	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19043.hp1 HG02055.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0058 a0001c0005t0052 a0001c0002t0058 a0001c0005t0052	a0001c0002t0058g0234 a0001c0005t0052g0178 a0001c0002t0058g0234 a0001c0005t0052g0178	2	276	0.0073	-36	c.178 others(55): Show c.1788+4553_1788+4588delATATATATATATGTATATATATATAT ATATATATAT		MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	14/22					INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94390078	ATATATAT others(29): Show ATATATATATATGTATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0068	1	276	0.0036	-36	c.178 others(55): Show c.1788+4565_1788+4600delGTATATATATATATATATATATATGT ATATATATAT		MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	14/22					INFO_REALIGN_3_PRIME	chr15	TogoVar
MDGA1_chr6_37625679_37702883	37664842	GACACACA others(29): Show GACACACACACACACACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0130 a0001c0003t0006g0130	1	402	0.0025	-36	c.68- others(49): Show c.68-772_68-737delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT		MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding	1/16						chr6	TogoVar
MDGA2_chr14_46835092_47680605	46942165	TTAGCTTC others(29): Show TTAGCTTCCCCAACTAAAATAATTTTGAAGGCTAGTG	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0082 a0001c0001t0006g0082	1	120	0.0083	-36	c.208 others(57): Show c.2089+15173_2089+15208delCACTAGCCTTCAAAATTATTTTAG TTGGGGAAGCTA		MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	9/16						chr14	TogoVar
MDGA2_chr14_46835092_47680605	46955748	CAAGTGTA others(29): Show CAAGTGTACTTTGGGATGACTATACAAAATTCATGGT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01496.hp2 HG01891.hp1 others(16): Show HG01192.hp1 HG01496.hp2 HG01891.hp1 HG01981.hp1 HG02257.hp1 HG02451.hp2 HG02572.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03225.hp1 HG03225.hp2 HG03516.hp2 HG04228.hp2 NA18906.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0002c0006 a0002c0010 others(1): Show a0002c0002 a0002c0006 a0002c0010 a0006c0009	a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 others(7): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0009 a0002c0002t0011 a0002c0002t0013 a0002c0002t0019 a0002c0006t0003 a0002c0010t0005 a0006c0009t0004	a0002c0002t0001g0053 a0002c0002t0001g0081 a0002c0002t0001g0114 others(16): Show a0002c0002t0001g0053 a0002c0002t0001g0081 a0002c0002t0001g0114 a0002c0002t0004g0007 a0002c0002t0004g0008 a0002c0002t0005g0073 a0002c0002t0005g0074 a0002c0002t0005g0105 a0002c0002t0005g0107 a0002c0002t0009g0039 a0002c0002t0009g0104 a0002c0002t0009g0113 a0002c0002t0011g0014 a0002c0002t0011g0020 a0002c0002t0013g0084 a0002c0002t0019g0025 a0002c0006t0003g0059 a0002c0010t0005g0119 a0006c0009t0004g0006	19	120	0.1583	-36	c.208 others(55): Show c.2089+1590_2089+1625delACCATGAATTTTGTATAGTCATCCCA AAGTACACTT		MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	9/16						chr14	TogoVar
MDH2_chr7_76043106_76072508	76046274	CTGTGTGT others(29): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19077.hp2 NA19012.hp1 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0040 a0002c0002t0002g0042 a0002c0002t0002g0040 a0002c0002t0002g0042	2	398	0.0050	-36	c.-18 others(47): Show c.-1886_-1851delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG		MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding					1831		chr7	TogoVar
MDH2_chr7_76043106_76072508	76046313	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01943.hp1 HG01952.hp1 others(25): Show HG00609.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG02040.hp1 HG02273.hp1 HG02300.hp2 NA18939.hp2 NA18963.hp2 NA18965.hp2 NA18972.hp1 NA18977.hp1 NA18992.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19012.hp2 NA19057.hp1 NA19062.hp1 NA19066.hp1 NA19076.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp2 NA19090.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0022 others(20): Show a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0070 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0179	28	398	0.0704	-36	c.-18 others(47): Show c.-1847_-1812delGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGC GC		MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding					1792		chr7	TogoVar
MECOM_chr3_169078507_169668712	169183787	CACACACA others(29): Show CACACACACACACACACACACACACACACACACATAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01099.hp2 HG01243.hp1 others(25): Show HG00438.hp1 HG01099.hp2 HG01243.hp1 HG01255.hp2 HG02109.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG04115.hp1 HG04204.hp1 NA18941.hp1 NA18952.hp2 NA19002.hp2 NA19043.hp1 NA19060.hp2 NA19070.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0001c0006 others(3): Show a0001c0001 a0001c0004 a0001c0006 a0002c0002 a0002c0010 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0031 a0001c0001t0046 a0001c0004t0002 a0001c0004t0008 a0001c0004t0009 a0001c0004t0052 a0001c0006t0003 a0002c0002t0035 a0002c0010t0002 a0002c0010t0014 a0004c0013t0002	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0002g0084 others(25): Show a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0002g0084 a0001c0001t0003g0040 a0001c0001t0004g0060 a0001c0001t0004g0067 a0001c0001t0005g0094 a0001c0001t0005g0103 a0001c0001t0006g0115 a0001c0001t0006g0123 a0001c0001t0009g0139 a0001c0001t0011g0023 a0001c0001t0012g0028 a0001c0001t0013g0050 a0001c0001t0014g0146 a0001c0001t0017g0112 a0001c0001t0019g0013 a0001c0001t0031g0015 a0001c0001t0046g0151 a0001c0004t0002g0082 a0001c0004t0008g0109 a0001c0004t0009g0144 a0001c0004t0052g0158 a0001c0006t0003g0035 a0002c0002t0035g0026 a0002c0010t0002g0089 a0002c0010t0014g0149 a0004c0013t0002g0074	28	160	0.1750	-36	c.376 others(55): Show c.376-39991_376-39956delATATGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169378438	AAAGAAAG others(29): Show AAAGAAAGAAAGAAGGAAAGCAAGCAAGCAAGCAAGC	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02559.hp2 NA19043.hp1 HG01433.hp2 HG02559.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0014 a0002c0002t0003 a0002c0002t0047 a0001c0001t0014 a0002c0002t0003 a0002c0002t0047	a0001c0001t0014g0146 a0002c0002t0003g0038 a0002c0002t0047g0153 a0001c0001t0014g0146 a0002c0002t0003g0038 a0002c0002t0047g0153	3	160	0.0188	-36	c.375 others(53): Show c.375+2713_375+2748delGCTTGCTTGCTTGCTTGCTTTCCTTCTT TCTTTCTT		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169378451	AGGAAAGC others(29): Show AGGAAAGCAAGCAAGCAAGCAAGCAAGAAAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0050 a0001c0001t0013g0050	1	160	0.0063	-36	c.375 others(53): Show c.375+2700_375+2735delCTCTCTCTTTCTTGCTTGCTTGCTTGCT TGCTTTCC		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169378462	CAAGCAAG others(29): Show CAAGCAAGCAAGCAAGAAAGAGAGAGAGAAAGAAAGA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02257.hp2 NA19011.hp2 HG01361.hp2 HG02257.hp2 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0002 a0002c0002t0027 a0001c0001t0007 a0002c0002t0002 a0002c0002t0027	a0001c0001t0007g0135 a0002c0002t0002g0087 a0002c0002t0027g0006 a0001c0001t0007g0135 a0002c0002t0002g0087 a0002c0002t0027g0006	3	160	0.0188	-36	c.375 others(53): Show c.375+2689_375+2724delTCTTTCTTTCTCTCTCTCTTTCTTGCTT GCTTGCTT		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16						chr3	TogoVar
MED13_chr17_61937605_62070278	62060973	ACAGGCGT others(29): Show ACAGGCGTGAGTGAGCCATGGCACCCAGCTGATCACT	A A	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0008 a0007c0019t0008	a0007c0019t0008g0310 a0007c0019t0008g0310	1	326	0.0031	-36	c.301 others(53): Show c.301+2058_301+2093delAGTGATCAGCTGGGTGCCATGGCTCACT CACGCCTG		MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	2/29						chr17	TogoVar
MED13_chr17_61937605_62070278	62061130	AACCTAGA others(29): Show AACCTAGAAGACAAAACTGACTTTTAACAATATCCAT	A A	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0008 a0007c0019t0008	a0007c0019t0008g0310 a0007c0019t0008g0310	1	326	0.0031	-36	c.301 others(53): Show c.301+1901_301+1936delATGGATATTGTTAAAAGTCAGTTTTGTC TTCTAGGT		MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	2/29						chr17	TogoVar
MED16_chr19_862963_898187	873005	GAGGGCTC others(29): Show GAGGGCTCCGAGGTGGGGCAGGGCTCCGAGGTGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0003 a0001c0017t0001g0003	1	56	0.0179	-36	c.190 others(53): Show c.1905+408_1905+443delGCCCCACCTCGGAGCCCTGCCCCACCTC GGAGCCCT		MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	11/15						chr19	TogoVar
MED16_chr19_862963_898187	873089	GTGGGGGA others(29): Show GTGGGGGAGGGCTCCGAGGTGGGGCAGGGCTCCGAGA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0036 a0002c0003t0001g0036	1	56	0.0179	-36	c.190 others(53): Show c.1905+324_1905+359delTCTCGGAGCCCTGCCCCACCTCGGAGCC CTCCCCCA		MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	11/15						chr19	TogoVar
MED16_chr19_862963_898187	873095	GAGGGCTC others(29): Show GAGGGCTCCGAGGTGGGGCAGGGCTCCGAGATGGGGC	G G	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0001 a0003c0021t0001	a0003c0021t0001g0004 a0003c0021t0001g0004	1	56	0.0179	-36	c.190 others(53): Show c.1905+318_1905+353delGCCCCATCTCGGAGCCCTGCCCCACCTC GGAGCCCT		MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	11/15						chr19	TogoVar
MED17_chr11_93779282_93819963	93803994	TGTGTGTA others(29): Show TGTGTGTATATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03130.hp1 HG02895.hp1 HG03130.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0012 a0001c0009 a0002c0012	a0001c0009t0001 a0002c0012t0031 a0001c0009t0001 a0002c0012t0031	a0001c0009t0001g0044 a0002c0012t0031g0144 a0001c0009t0001g0044 a0002c0012t0031g0144	2	320	0.0063	-36	c.146 others(55): Show c.1466+2023_1466+2058delGTGTGTATATATATATATATATATAT ATATATACAC		MED17	ENSG00000042429.12	transcript	ENST00000251871.9	protein_coding	9/11						chr11	TogoVar
MEF2A_chr15_99560984_99721488	99712522	GCAGCAGC others(29): Show GCAGCAGCAGCAGCAGCCGCCGCCACCACCGCAGCCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03492.hp2 HG03492.hp2	a0013 a0013	a0013c0032 a0013c0032	a0013c0032t0005 a0013c0032t0005	a0013c0032t0005g0166 a0013c0032t0005g0166	1	376	0.0027	-36	c.127 others(45): Show c.1274_1309delAGCAGCAGCAGCCGCCGCCACCACCGCAGCCCCAGC	p.Gln others(13): Show p.Gln425_Gln436del	MEF2A	ENSG00000068305.19	transcript	ENST00000557942.6	protein_coding	12/12	1619/5580	1274/1518	425/505		INFO_REALIGN_3_PRIME	chr15	TogoVar
MEGF10_chr5_127285796_127466222	127391094	GCGCGCGC others(29): Show GCGCGCGCGCACACACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	268	0.0037	-36	c.413 others(53): Show c.413-5436_413-5401delGCGCGCGCACACACACACACACACACAC ACACACAC		MEGF10	ENSG00000145794.17	transcript	ENST00000503335.7	protein_coding	5/24					INFO_REALIGN_3_PRIME	chr5	TogoVar
MEGF10_chr5_127285796_127466222	127417325	CATAGAGT others(29): Show CATAGAGTTGACCTCTTACAAAATTAGTGCATTCAAT	C C	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0030 a0007c0030	a0007c0030t0005 a0007c0030t0005	a0007c0030t0005g0085 a0007c0030t0005g0085	1	268	0.0037	-36	c.113 others(53): Show c.1131-312_1131-277delATAGAGTTGACCTCTTACAAAATTAGTG CATTCAAT		MEGF10	ENSG00000145794.17	transcript	ENST00000503335.7	protein_coding	9/24						chr5	TogoVar
MEGF11_chr15_65890299_66258750	66034802	TTCTGCCC others(29): Show TTCTGCCCTCATGATGAATTAATGGATTAATGAGGGC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02615.hp1 HG02615.hp2 others(6): Show HG02257.hp2 HG02615.hp1 HG02615.hp2 HG02809.hp1 HG02896.hp1 HG02976.hp1 HG03130.hp2 HG03225.hp2 HG03453.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0002c0005 others(2): Show a0001c0001 a0002c0002 a0002c0005 a0002c0012 a0010c0014	a0001c0001t0006 a0002c0002t0001 a0002c0002t0006 others(3): Show a0001c0001t0006 a0002c0002t0001 a0002c0002t0006 a0002c0005t0001 a0002c0012t0001 a0010c0014t0013	a0001c0001t0006g0046 a0002c0002t0001g0018 a0002c0002t0001g0027 others(6): Show a0001c0001t0006g0046 a0002c0002t0001g0018 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0041 a0002c0002t0006g0091 a0002c0005t0001g0049 a0002c0012t0001g0126 a0010c0014t0013g0029	9	176	0.0511	-36	c.395 others(55): Show c.395-52350_395-52315delGCCCTCATTAATCCATTAATTCATCA TGAGGGCAGA		MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	5/25						chr15	TogoVar
MEGF6_chr1_3482951_3616508	3544177	AGCATCAG others(29): Show AGCATCAGGCTAACCCTCTCCCCCCAGCGTCGCAGCG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0057 a0057	a0057c0098 a0057c0098	a0057c0098t0003 a0057c0098t0003	a0057c0098t0003g0251 a0057c0098t0003g0251	1	292	0.0034	-36	c.482 others(55): Show c.482-19967_482-19932delCGCTGCGACGCTGGGGGGAGAGGGTT AGCCTGATGC		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	4/36						chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583270	ACAGCCAC others(29): Show ACAGCCACCAGACAACCCACAGCCACCAGACAACGCG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0045 a0045	a0045c0124 a0045c0124	a0045c0124t0003 a0045c0124t0003	a0045c0124t0003g0064 a0045c0124t0003g0064	1	292	0.0034	-36	c.377 others(53): Show c.377-3377_377-3342delCGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583324	ACAGCCAC others(29): Show ACAGCCACCAGACAACGCGCAGCCACCAGACAACGCG	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02273.hp1 HG01952.hp1 HG02273.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0183 a0003c0003t0001g0107 a0001c0001t0001g0183 a0003c0003t0001g0107	2	292	0.0069	-36	c.377 others(53): Show c.377-3431_377-3396delCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583342	GCAGCCAC others(29): Show GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0040 a0040	a0040c0068 a0040c0068	a0040c0068t0032 a0040c0068t0032	a0040c0068t0032g0274 a0040c0068t0032g0274	1	292	0.0034	-36	c.377 others(53): Show c.377-3449_377-3414delTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MELK_chr9_36567895_36682682	36606503	AATACATA others(29): Show AATACATATGTATAGGTGTGTATATAATATATAATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00741.hp2 HG01069.hp2 others(38): Show HG00621.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01346.hp1 HG01358.hp2 HG01516.hp1 HG01891.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02145.hp1 HG02165.hp1 HG02486.hp2 HG02615.hp2 HG02647.hp1 HG03098.hp1 HG03195.hp2 HG03209.hp2 HG03540.hp2 HG03704.hp2 HG04228.hp1 NA18906.hp2 NA18949.hp1 NA18954.hp1 NA18962.hp2 NA18964.hp1 NA18971.hp2 NA18972.hp1 NA18982.hp1 NA18989.hp2 NA18993.hp2 NA18999.hp2 NA19011.hp2 NA19070.hp1 NA19086.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 others(38): Show a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0178 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0194 a0001c0002t0001g0222	41	242	0.1694	-36	c.568 others(52): Show c.568-1003_568-968delATATATACATATGTATAGGTGTGTATATA ATATATA		MELK	ENSG00000165304.8	transcript	ENST00000298048.7	protein_coding	7/17					INFO_REALIGN_3_PRIME	chr9	TogoVar
MEMO1_chr2_31862823_32016008	31933332	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAATTTATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	304	0.0033	-36	c.144 others(53): Show c.144-1233_144-1198delATATATATATATATATAAATTTTTTTTT TTTTTTTT		MEMO1	ENSG00000162959.14	transcript	ENST00000404530.6	protein_coding	3/9						chr2	TogoVar
MEP1A_chr6_46788389_46844778	46807588	GGAAGGAA others(29): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp2 HG03453.hp1 others(2): Show HG02109.hp1 HG02615.hp2 HG03453.hp1 NA18906.hp2 NA18951.hp1	a0004 a0006 a0004 a0006	a0004c0004 a0006c0005 a0004c0004 a0006c0005	a0004c0004t0002 a0006c0005t0002 a0006c0005t0003 a0004c0004t0002 a0006c0005t0002 a0006c0005t0003	a0004c0004t0002g0152 a0006c0005t0002g0018 a0006c0005t0003g0017 others(2): Show a0004c0004t0002g0152 a0006c0005t0002g0018 a0006c0005t0003g0017 a0006c0005t0003g0020 a0006c0005t0003g0021	5	352	0.0142	-36	c.263 others(53): Show c.263-1820_263-1785delGGAAGGAAGGAAGGAAGGAAGGAAAGAA GGAAGGAA		MEP1A	ENSG00000112818.11	transcript	ENST00000230588.9	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
MEP1A_chr6_46788389_46844778	46824553	TTATATAT others(29): Show TTATATATTAAATAGATGTATTTAAATATATAAATTA	T T	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0333 a0002c0002t0002g0333	1	352	0.0028	-36	c.557 others(51): Show c.557-687_557-652delAATTATATATATTAAATAGATGTATTTAAA TATATA		MEP1A	ENSG00000112818.11	transcript	ENST00000230588.9	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
METAP1D_chr2_171994953_172087430	172045809	GTGTGTGT others(29): Show GTGTGTGTGTGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0179 a0001c0001t0004g0179	1	356	0.0028	-36	c.41- others(53): Show c.41-15687_41-15652delGTGTGTGTGTATATATATATATATATAT ATATATAT		METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
METAP1D_chr2_171994953_172087430	172081969	CTTTGTGT others(29): Show CTTTGTGTCCAGGGTTGTAGATTTTTGGATAGAGGTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0069 a0001c0001t0016g0069	1	356	0.0028	-36	c.15 others(47): Show c.1567_*1602delGTGTCCAGGGTTGTAGATTTTTGGATAGAGGTGT TT		METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	10/10				1567	INFO_REALIGN_3_PRIME	chr2	TogoVar
METAP1_chr4_98990721_99067809	99004448	CACACACA others(29): Show CACACACACACACACACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01099.hp2 HG01243.hp1 others(6): Show HG00438.hp2 HG01099.hp2 HG01243.hp1 HG01934.hp1 HG01981.hp1 HG03017.hp2 NA18941.hp1 NA18991.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0212 a0001c0001t0002g0213 others(6): Show a0001c0001t0002g0173 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0223 a0001c0001t0002g0228 a0001c0001t0002g0229	9	338	0.0266	-36	c.114 others(53): Show c.114+8611_114+8646delCACACATACACACACACACACACACACA CACACACA		METAP1	ENSG00000164024.12	transcript	ENST00000296411.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
METTL24_chr6_110238940_110363349	110265128	GGAAAGAA others(29): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0031 a0004c0013t0031	a0004c0013t0031g0132 a0004c0013t0031g0132	1	268	0.0037	-36	c.787 others(55): Show c.787-18904_787-18869delTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC		METTL24	ENSG00000053328.9	transcript	ENST00000338882.5	protein_coding	4/4						chr6	TogoVar
MGAM_chr7_141990879_142111747	142042530	TATATATA others(29): Show TATATATAATATATATTATATATACATATTATATATA	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02602.hp1 NA18942.hp1 others(3): Show HG01952.hp1 HG02602.hp1 NA18942.hp1 NA18950.hp1 NA18980.hp1 NA19082.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0069	a0001c0094 a0002c0002 a0002c0033 others(2): Show a0001c0094 a0002c0002 a0002c0033 a0008c0022 a0069c0046	a0001c0094t0001 a0002c0002t0001 a0002c0033t0001 others(2): Show a0001c0094t0001 a0002c0002t0001 a0002c0033t0001 a0008c0022t0001 a0069c0046t0001	a0001c0094t0001g0303 a0002c0002t0001g0151 a0002c0002t0001g0167 others(3): Show a0001c0094t0001g0303 a0002c0002t0001g0151 a0002c0002t0001g0167 a0002c0033t0001g0287 a0008c0022t0001g0015 a0069c0046t0001g0152	6	316	0.0190	-36	c.249 others(55): Show c.2498+1811_2498+1846delATATACATATTATATATAATATATAA TATATATTAT		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142044532	GATATATG others(29): Show GATATATGATATATAATGTATATTATATACACGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02451.hp1 others(21): Show HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02809.hp2 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03516.hp1 HG03516.hp2 NA18522.hp1 NA18522.hp2 NA18962.hp2 NA19043.hp1 NA19072.hp1 NA19091.hp2	a0004 a0007 a0014 others(11): Show a0004 a0007 a0014 a0015 a0016 a0017 a0026 a0027 a0031 a0032 a0033 a0034 a0035 a0036	a0004c0018 a0004c0143 a0007c0020 others(16): Show a0004c0018 a0004c0143 a0007c0020 a0007c0037 a0014c0038 a0015c0121 a0015c0125 a0016c0127 a0016c0128 a0017c0124 a0017c0126 a0026c0145 a0027c0144 a0031c0120 a0032c0119 a0033c0122 a0034c0130 a0035c0129 a0036c0123	a0004c0018t0001 a0004c0143t0001 a0007c0020t0002 others(16): Show a0004c0018t0001 a0004c0143t0001 a0007c0020t0002 a0007c0037t0002 a0014c0038t0002 a0015c0121t0001 a0015c0125t0001 a0016c0127t0001 a0016c0128t0003 a0017c0124t0001 a0017c0126t0001 a0026c0145t0001 a0027c0144t0001 a0031c0120t0001 a0032c0119t0001 a0033c0122t0001 a0034c0130t0001 a0035c0129t0001 a0036c0123t0001	a0004c0018t0001g0018 a0004c0018t0001g0019 a0004c0143t0001g0017 others(21): Show a0004c0018t0001g0018 a0004c0018t0001g0019 a0004c0143t0001g0017 a0007c0020t0002g0060 a0007c0020t0002g0062 a0007c0020t0002g0231 a0007c0037t0002g0002 a0007c0037t0002g0003 a0014c0038t0002g0029 a0014c0038t0002g0173 a0015c0121t0001g0064 a0015c0125t0001g0185 a0016c0127t0001g0119 a0016c0128t0003g0085 a0017c0124t0001g0120 a0017c0126t0001g0005 a0026c0145t0001g0101 a0027c0144t0001g0043 a0031c0120t0001g0232 a0032c0119t0001g0006 a0033c0122t0001g0100 a0034c0130t0001g0279 a0035c0129t0001g0066 a0036c0123t0001g0061	24	316	0.0760	-36	c.249 others(55): Show c.2499-3135_2499-3100delATATAATGTATATTATATACACGTGT AATATATGAT		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142044881	CATACACG others(29): Show CATACACGTGTAATATATGATATATAATGTATATTAT	C C	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0223 a0002c0002t0001g0223	1	316	0.0032	-36	c.249 others(55): Show c.2499-2804_2499-2769delGTATATTATATACACGTGTAATATAT GATATATAAT		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAT4C_chr12_85950667_86261391	85977780	TCACACAC others(29): Show TCACACACACACACACACACACACACACACACACACA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp1 HG01433.hp2 HG01515.hp2 others(1): Show HG00741.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0030 a0002c0003t0031 a0002c0003t0032 others(1): Show a0002c0003t0030 a0002c0003t0031 a0002c0003t0032 a0002c0003t0033	a0002c0003t0030g0005 a0002c0003t0031g0006 a0002c0003t0032g0010 others(1): Show a0002c0003t0030g0005 a0002c0003t0031g0006 a0002c0003t0032g0010 a0002c0003t0033g0007	4	186	0.0215	-36	c.14 others(47): Show c.1473_*1508delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG		MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	5/5				1473		chr12	TogoVar
MGAT5B_chr17_76863404_76955393	76897695	TTCTTTCT others(29): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01975.hp1 HG01496.hp1 HG01975.hp1	a0002 a0002	a0002c0016 a0002c0022 a0002c0016 a0002c0022	a0002c0016t0002 a0002c0022t0003 a0002c0016t0002 a0002c0022t0003	a0002c0016t0002g0086 a0002c0022t0003g0085 a0002c0016t0002g0086 a0002c0022t0003g0085	2	278	0.0072	-36	c.330 others(53): Show c.330-4858_330-4823delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTTCT		MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr17	TogoVar
MIA2_chr14_39228915_39355694	39277684	ATATGTGT others(29): Show ATATGTGTGTATATATATATATATATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02922.hp1 NA18943.hp2 others(1): Show HG02615.hp2 HG02922.hp1 NA18943.hp2 NA19080.hp2	a0002 a0007 a0014 a0002 a0007 a0014	a0002c0001 a0007c0010 a0014c0016 a0002c0001 a0007c0010 a0014c0016	a0002c0001t0002 a0007c0010t0002 a0014c0016t0002 a0002c0001t0002 a0007c0010t0002 a0014c0016t0002	a0002c0001t0002g0032 a0007c0010t0002g0132 a0007c0010t0002g0133 others(1): Show a0002c0001t0002g0032 a0007c0010t0002g0132 a0007c0010t0002g0133 a0014c0016t0002g0232	4	368	0.0109	-36	c.201 others(53): Show c.2019+623_2019+658delGTGTGTATATATATATATATATATATAT GTGTGTAT		MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	7/28					INFO_REALIGN_3_PRIME	chr14	TogoVar
MIB1_chr18_21735792_21875953	21738806	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00621.hp1 others(98): Show HG00280.hp1 HG00408.hp1 HG00621.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02735.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03225.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18939.hp2 NA18940.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18962.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18980.hp2 NA18990.hp1 NA18992.hp1 NA19001.hp1 NA19003.hp1 NA19004.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19070.hp2 NA19076.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19090.hp2 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0034 a0001c0001t0036 a0001c0001t0048	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 others(98): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0022 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0230 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0260 a0001c0001t0002g0272 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0306 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0100 a0001c0001t0004g0036 a0001c0001t0004g0038 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0047 a0001c0001t0004g0113 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0072 a0001c0001t0005g0228 a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0005g0264 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0009g0073 a0001c0001t0010g0232 a0001c0001t0010g0233 a0001c0001t0010g0238 a0001c0001t0010g0239 a0001c0001t0010g0240 a0001c0001t0012g0064 a0001c0001t0012g0067 a0001c0001t0018g0253 a0001c0001t0019g0231 a0001c0001t0021g0008 a0001c0001t0025g0043 a0001c0001t0026g0092 a0001c0001t0028g0097 a0001c0001t0029g0079 a0001c0001t0031g0057 a0001c0001t0034g0063 a0001c0001t0036g0065 a0001c0001t0048g0241	101	308	0.3279	-36	c.-27 others(47): Show c.-2777_-2742delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		MIB1	ENSG00000101752.13	transcript	ENST00000261537.7	protein_coding					1985		chr18	TogoVar
MIB2_chr1_1610500_1635605	1627822	ACCTGCCC others(29): Show ACCTGCCCGTGAGTGCTGCTCCCTGGCCTGGGTGCCC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02976.hp2 NA18906.hp2 others(1): Show HG02258.hp1 HG02976.hp2 NA18906.hp2 NA20129.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0029 a0004c0008t0001g0101 a0004c0008t0001g0029 a0004c0008t0001g0101	4	412	0.0097	-36	c.168 others(51): Show c.1680+10_1680+45delGCTCCCTGGCCTGGGTGCCCCCTGCCCGTG AGTGCT		MIB2	ENSG00000197530.13	transcript	ENST00000355826.10	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
MICAL3_chr22_17782649_18029561	17876829	TGGAGGTT others(29): Show TGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0014 a0014	a0014c0026 a0014c0026	a0014c0026t0002 a0014c0026t0002	a0014c0026t0002g0002 a0014c0026t0002g0002	1	274	0.0037	-36	c.224 others(55): Show c.2242-4842_2242-4807delCTAACCTCCATAACCTCCCTAACCTC CCTAACCTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877153	GGGAGGTT others(29): Show GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTAT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0006 a0011c0017t0006	a0011c0017t0006g0011 a0011c0017t0006g0011	1	274	0.0037	-36	c.224 others(55): Show c.2242-5166_2242-5131delATAACTTCCCTAACCTCCCTAACCTC CATAACCTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICU1_chr10_72362340_72631079	72500278	ATATATAT others(29): Show ATATATATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp1 HG02258.hp1 HG02572.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0089 a0002c0002t0002g0057 a0001c0001t0002g0089 a0002c0002t0002g0057	2	208	0.0096	-36	c.652 others(53): Show c.652+7841_652+7876delAAAAAAAAAAAATATATATATATATATA TATATATA		MICU1	ENSG00000107745.20	transcript	ENST00000361114.10	protein_coding	6/11						chr10	TogoVar
MIOS_chr7_7561884_7613932	7597468	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp2 HG02886.hp2 others(1): Show HG02451.hp1 HG02615.hp2 HG02886.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0026 a0001c0002t0006 a0001c0002t0023 a0001c0001t0026 a0001c0002t0006 a0001c0002t0023	a0001c0001t0026g0211 a0001c0002t0006g0212 a0001c0002t0006g0213 others(1): Show a0001c0001t0026g0211 a0001c0002t0006g0212 a0001c0002t0006g0213 a0001c0002t0023g0214	4	330	0.0121	-36	c.240 others(55): Show c.2401+1021_2401+1056delATATATATATATATATATATATATAT ATATATATAT		MIOS	ENSG00000164654.16	transcript	ENST00000340080.9	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
MIOX_chr22_50481859_50495648	50488751	TGTCCCTC others(29): Show TGTCCCTCCTGTCCCTCCTGTCCCTCCCATCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00438.hp2 others(138): Show HG00099.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG04115.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18940.hp2 NA18945.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18980.hp1 NA18987.hp2 NA18991.hp1 NA18992.hp2 NA18995.hp2 NA19000.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19059.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp1 NA19078.hp1 NA19078.hp2 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0001c0002 a0001c0013 others(3): Show a0001c0001 a0001c0002 a0001c0013 a0002c0007 a0006c0012 a0008c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0023 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0013t0011 a0002c0007t0001 a0006c0012t0003 a0008c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(36): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0002g0001 a0001c0001t0002g0087 a0001c0001t0003g0001 a0001c0001t0003g0038 a0001c0001t0003g0089 a0001c0001t0004g0001 a0001c0001t0004g0090 a0001c0001t0005g0001 a0001c0001t0007g0001 a0001c0001t0008g0093 a0001c0001t0008g0094 a0001c0001t0009g0001 a0001c0001t0009g0036 a0001c0001t0009g0088 a0001c0001t0011g0017 a0001c0001t0011g0059 a0001c0001t0012g0001 a0001c0001t0013g0036 a0001c0001t0018g0081 a0001c0001t0023g0017 a0001c0002t0002g0001 a0001c0002t0003g0001 a0001c0002t0004g0001 a0001c0013t0011g0017 a0002c0007t0001g0001 a0006c0012t0003g0038 a0008c0014t0001g0001	141	436	0.3234	-36	c.409 others(51): Show c.409-271_409-236delTGTCCCTCCCATCCCTCCCGTCCCTCCTGT CCCTCC		MIOX	ENSG00000100253.13	transcript	ENST00000216075.11	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr22	TogoVar
MIPEP_chr13_23725189_23894400	23771301	CAGGGTGG others(29): Show CAGGGTGGACATCAGACACCTCTTTGTATCAGTGACT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	306	0.0033	-36	c.184 others(57): Show c.1849-11120_1849-11085delAGTCACTGATACAAAGAGGTGTCT GATGTCCACCCT		MIPEP	ENSG00000027001.10	transcript	ENST00000382172.4	protein_coding	16/18						chr13	TogoVar
MKLN1_chr7_131322876_131501632	131444727	TAGTAGTA others(29): Show TAGTAGTAGTAGTAGTAGTAGTAGTAGTAGTAGAAGA	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0215 a0001c0001t0044g0215	1	320	0.0031	-36	c.139 others(54): Show c.1396-1014_1396-979delAAGAAGTAGTAGTAGTAGTAGTAGTAG TAGTAGTAG		MKLN1	ENSG00000128585.18	transcript	ENST00000352689.11	protein_coding	11/17					INFO_REALIGN_3_PRIME	chr7	TogoVar
MKNK1_chr1_46552407_46609268	46585249	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp2 others(102): Show HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00738.hp2 HG01071.hp1 HG01099.hp2 HG01167.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG02004.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02258.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02886.hp2 HG02970.hp2 HG03017.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03834.hp1 HG04115.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18951.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18986.hp1 NA18989.hp2 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19001.hp1 NA19003.hp1 NA19007.hp1 NA19030.hp2 NA19054.hp2 NA19055.hp2 NA19058.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0004t0001 a0001c0007t0002 a0004c0008t0002	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0030 others(93): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0035 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0008g0094 a0001c0001t0011g0330 a0001c0004t0001g0005 a0001c0007t0002g0070 a0004c0008t0002g0076	105	346	0.3035	-36	c.-2- others(51): Show c.-2-1956_-2-1921delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT		MKNK1	ENSG00000079277.22	transcript	ENST00000371945.10	protein_coding	2/12						chr1	TogoVar
MLPH_chr2_237482251_237560322	237517693	ATGGATGG others(29): Show ATGGATGGATGGATGGATGGATGGATAAGTAAGTGGG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0213 a0001c0001t0012g0213	1	286	0.0035	-36	c.446 others(51): Show c.446-820_446-785delAAGTAAGTGGGTGGATGGATGGATGGATGG ATGGAT		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr2	TogoVar

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