Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
LSS_chr21_46183446_46233774	46201373	G G	GAGGGTAG others(308): Show GAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGG TAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAG CCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGG ATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCAC GTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGG AGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGAC AGGTCATGAAGCCCTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG01168.hp2 others(5): Show HG00280.hp2 HG00738.hp1 HG01168.hp2 HG01256.hp2 HG01261.hp2 HG04115.hp2 HG04199.hp1 NA18999.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0009 a0003c0003t0001g0131 a0003c0003t0001g0222 others(3): Show a0003c0003t0001g0009 a0003c0003t0001g0131 a0003c0003t0001g0222 a0003c0003t0001g0229 a0003c0003t0001g0233 a0003c0003t0001g0235	8	358	0.0224	315	c.167 others(334): Show c.1670+4462_1670+4463insGAGGGCTTCATGACCTGTCCTCCCAC GTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGAT CCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGG CTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTA CCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTC AGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGC TTCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCT		LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding	17/21						chr21	TogoVar
LTBP1_chr2_32941953_33404509	33350731	A A	AAGAAGGT others(308): Show AAGAAGGTATGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG GCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAA CACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTG GTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp1 HG01256.hp2 others(4): Show HG00735.hp2 HG01106.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG02602.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0022 a0007c0040	a0001c0001t0007 a0001c0001t0017 a0001c0002t0021 others(4): Show a0001c0001t0007 a0001c0001t0017 a0001c0002t0021 a0001c0005t0002 a0001c0007t0007 a0001c0022t0043 a0007c0040t0003	a0001c0001t0007g0122 a0001c0001t0017g0052 a0001c0002t0021g0095 others(4): Show a0001c0001t0007g0122 a0001c0001t0017g0052 a0001c0002t0021g0095 a0001c0005t0002g0028 a0001c0007t0007g0091 a0001c0022t0043g0144 a0007c0040t0003g0126	7	164	0.0427	315	c.400 others(334): Show c.4000+3232_4000+3233insCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAAGGTATGG		LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	26/33					INFO_REALIGN_3_PRIME	chr2	TogoVar
LUC7L_chr16_183990_234449	186136	G G	GGAGGAAC others(308): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	350	0.0029	315	c.30 others(326): Show c.3061_*3062insTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGT GTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCC TCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGC TGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTG TCGCTGTTCCTCCCCCGTGTCGCTGTTCCTC		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2853		chr16	TogoVar
LY75_chr2_159798355_159909756	159874075	T T	TACATATA others(308): Show TACATATAAACGTATATATTTTGTAAAAATACATATAAACGTATATATTT TGTAAAAATACATATAAACGTATATATTTTGTAAAAATACATATAAACGT ATATATTTTGTAAAAATACATATAAACGTATATATTTTGTAAAAATACAT ATAAACGTATATATTTTGTAAAAATACATATAAACGTATATATTTTGTAA AAATACATATAAACGTATATATTTTGTAAAAATACATATAAACGTATATA TTTTGTAAAAATACATATAAACGTATATATTTTGTAAAAATATATAAACG TATATATTTTGTAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02015.hp1 HG02027.hp1 others(15): Show HG00558.hp2 HG02015.hp1 HG02027.hp1 HG02071.hp1 HG02074.hp2 HG02896.hp2 HG04115.hp1 HG04228.hp1 NA18612.hp1 NA18947.hp2 NA18952.hp1 NA18953.hp1 NA18964.hp2 NA18982.hp1 NA18986.hp1 NA19001.hp2 NA19011.hp2 NA19074.hp2	a0005 a0013 a0037 others(2): Show a0005 a0013 a0037 a0047 a0048	a0005c0006 a0005c0024 a0005c0037 others(5): Show a0005c0006 a0005c0024 a0005c0037 a0005c0038 a0013c0026 a0037c0054 a0047c0036 a0048c0035	a0005c0006t0001 a0005c0006t0002 a0005c0006t0003 others(7): Show a0005c0006t0001 a0005c0006t0002 a0005c0006t0003 a0005c0024t0001 a0005c0037t0001 a0005c0038t0001 a0013c0026t0001 a0037c0054t0008 a0047c0036t0001 a0048c0035t0002	a0005c0006t0001g0015 a0005c0006t0001g0023 a0005c0006t0001g0027 others(15): Show a0005c0006t0001g0015 a0005c0006t0001g0023 a0005c0006t0001g0027 a0005c0006t0001g0029 a0005c0006t0001g0038 a0005c0006t0001g0040 a0005c0006t0002g0024 a0005c0006t0003g0016 a0005c0006t0003g0036 a0005c0006t0003g0037 a0005c0024t0001g0020 a0005c0024t0001g0031 a0005c0037t0001g0025 a0005c0038t0001g0033 a0013c0026t0001g0232 a0037c0054t0008g0128 a0047c0036t0001g0041 a0048c0035t0002g0030	18	330	0.0546	315	c.197 others(334): Show c.1974+1368_1974+1369insTTTTACAAAATATATACGTTTATATA TTTTTACAAAATATATACGTTTATATGTATTTTTACAAAATATATACGTT TATATGTATTTTTACAAAATATATACGTTTATATGTATTTTTACAAAATA TATACGTTTATATGTATTTTTACAAAATATATACGTTTATATGTATTTTT ACAAAATATATACGTTTATATGTATTTTTACAAAATATATACGTTTATAT GTATTTTTACAAAATATATACGTTTATATGTATTTTTACAAAATATATAC GTTTATATGTATTTTTACAAAATATATACGTTTATATGT		LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34						chr2	TogoVar
MACF1_chr1_39199695_39492138	39211990	T T	TAATAGTG others(308): Show TAATAGTGGGTGATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA21309.hp1 HG03041.hp1 NA21309.hp1	a0010 a0053 a0010 a0053	a0010c0014 a0053c0076 a0010c0014 a0053c0076	a0010c0014t0010 a0053c0076t0003 a0010c0014t0010 a0053c0076t0003	a0010c0014t0010g0225 a0053c0076t0003g0222 a0010c0014t0010g0225 a0053c0076t0003g0222	2	246	0.0081	315	c.109 others(332): Show c.109+6872_109+6873insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGGCCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAATAGTGGGTGAT		MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	1/100					INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGEC1_chrX_141898894_141914374	141905969	C C	CCTTTTGA others(308): Show CCTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTC CTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTC AGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGC TCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAG AACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTG TGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCT GAGAGAACTCAGAGTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18953.hp1 NA19003.hp1 NA19012.hp1 others(2): Show NA18953.hp1 NA19003.hp1 NA19012.hp1 NA19074.hp2 NA19088.hp1	a0023 a0144 a0023 a0144	a0023c0014 a0144c0115 a0023c0014 a0144c0115	a0023c0014t0001 a0144c0115t0001 a0023c0014t0001 a0144c0115t0001	a0023c0014t0001g0001 a0144c0115t0001g0001 a0023c0014t0001g0001 a0144c0115t0001g0001	5	359	0.0139	315	c.661 others(322): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCA GTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGA GTATTTTCCAGAGTTCCCCTGAGAGAA	p.Arg others(328): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgThrGlnSerThrPheGluGlyP heProGlnSerProLeuGlnIleProValSerArgSerPheSerSerThr LeuLeuSerIlePheGlnSerSerProGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141905969	C C	CCTTTTGA others(308): Show CCTTTTGAGGGTTTTCCCCAGTCTGTTCTCCAGATTCCTGTGAGCGCCGC CTCCTCCTCCACTTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTC AAAGTCCTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGC CGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAG AAGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTG TGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCT GAGAGAACTCAGAGTA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03831.hp2 HG03831.hp2	a0134 a0134	a0134c0184 a0134c0184	a0134c0184t0001 a0134c0184t0001	a0134c0184t0001g0009 a0134c0184t0001g0009	1	359	0.0028	315	c.588 others(322): Show c.588_589insGTTCTCCAGATTCCTGTGAGCGCCGCCTCCTCCTCCAC TTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAAAGTCCTTTTG AGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCC TCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAAC TTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCT CGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAG AGTACTTTTGAGGGTTTTCCCCAGTCT	p.Ser others(328): Show p.Ser196_Pro197insValLeuGlnIleProValSerAlaAlaSerSe rSerThrLeuValSerIlePheGlnSerSerProGluArgThrGlnSerP roPheGluGlyPheProGlnSerProLeuGlnIleProValSerArgSer PheSerSerThrLeuLeuSerIlePheGlnSerSerProGluArgSerGl nArgThrSerGluGlyPheAlaGlnSerProLeuGlnIleProValSerS erSerSerSerSerThrLeuLeuSerLeuPheGlnSerSerProGluArg ThrGlnSerThrPheGluGlyPheProGlnSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	875/4256	589/3429	197/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141905995	A A	ACTCCAGA others(308): Show ACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTT TCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAG TCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGAG TCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTG CCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTA CTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGG TTTTGCCCAGTCTCCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00738.hp1 HG00738.hp1	a0073 a0073	a0073c0095 a0073c0095	a0073c0095t0001 a0073c0095t0001	a0073c0095t0001g0001 a0073c0095t0001g0001	1	359	0.0028	315	c.721 others(322): Show c.721_722insTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCT GAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGAT TCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTT TCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTC CAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTC CTCTCCAGATTCCTGTGAGCCCCTCCT	p.Ser others(328): Show p.Ser240_Ser241insPheSerSerThrLeuLeuSerLeuPheGlnSe rPheSerGluArgThrGlnSerThrPheGluGlyPheAlaGlnSerProL euGlnIleProValSerProSerPheSerSerThrLeuLeuSerLeuPhe GlnSerPheSerGluArgThrGlnSerThrPheGluGlyPheAlaGlnSe rProLeuGlnIleProValSerArgSerPheSerSerThrLeuLeuSerI lePheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPheAla GlnSerProLeuGlnIleProValSerProSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1008/4256	722/3429	241/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906021	T T	TCTCCTCC others(308): Show TCTCCTCCACTTTACTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAG AGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTC CTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAA CTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTG AGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGA GAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTC CTGTGAGCTCCTCCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00558.hp2 HG00558.hp2	a0069 a0069	a0069c0076 a0069c0076	a0069c0076t0001 a0069c0076t0001	a0069c0076t0001g0001 a0069c0076t0001g0001	1	359	0.0028	315	c.630 others(322): Show c.630_631insCTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAG AACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTCCT CCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACT CAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAG CCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGA GAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCT GTGAGCTCCTCCTCCTCCTCCACTTTA	p.Leu others(328): Show p.Leu211_Ser212insSerIlePheGlnSerSerProGluArgSerGl nArgThrSerGluGlyPheAlaGlnSerProLeuGlnIleProValSerS erSerSerSerSerThrLeuLeuSerLeuPheGlnSerSerProGluArg ThrGlnSerThrPheGluGlyPheProGlnSerProLeuGlnIleProVa lSerArgSerPheSerSerThrLeuLeuSerIlePheGlnSerSerProG luArgThrGlnSerThrPheGluGlyPheAlaGlnSerProLeuGlnIle ProValSerSerSerSerSerSerThrLeuLeu	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	917/4256	631/3429	211/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906041	A A	ATTTTCCA others(308): Show ATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCC CCAGTCTGTTCTCCAGATTCCTGTGAGCGCCGCCTCCTCCTCCACTTTAG TGAGTATTTTCCAGAGTTCCCCTGAGAGTACTCAAAGTCCTTTTGAGGGT TTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCAC TTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTG AGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCC TCCACTTTACTGAGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03017.hp1 HG03017.hp1	a0119 a0119	a0119c0186 a0119c0186	a0119c0186t0001 a0119c0186t0001	a0119c0186t0001g0003 a0119c0186t0001g0003	1	359	0.0028	315	c.684 others(322): Show c.684_685insCCCCAGTCTGTTCTCCAGATTCCTGTGAGCGCCGCCTC CTCCTCCACTTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGTACTCAAA GTCCTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGC TCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAG TCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGA GCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAG AGAACTCAGAGTACTTTTGAGGGTTTT	p.Phe others(328): Show p.Phe228_Ala229insProGlnSerValLeuGlnIleProValSerAl aAlaSerSerSerThrLeuValSerIlePheGlnSerSerProGluSerT hrGlnSerProPheGluGlyPheProGlnSerProLeuGlnIleProVal SerArgSerPheSerSerThrLeuLeuSerIlePheGlnSerSerProGl uArgSerGlnArgThrSerGluGlyPheAlaGlnSerProLeuGlnIleP roValSerSerSerSerSerSerThrLeuLeuSerLeuPheGlnSerSer ProGluArgThrGlnSerThrPheGluGlyPhe	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	971/4256	685/3429	229/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906041	A A	ATTTTCCA others(308): Show ATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGC ACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTAC TGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGT TTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCAC TTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTG AGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCC TCCACTTTAGTGAGTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18993.hp1 NA18993.hp1	a0161 a0161	a0161c0154 a0161c0154	a0161c0154t0001 a0161c0154t0001	a0161c0154t0001g0001 a0161c0154t0001g0001	1	359	0.0028	315	c.661 others(322): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCA GTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGA GTCTTTTCCAGAGTTCCCCTGAGAGAA	p.Arg others(328): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgThrGlnSerThrPheGluGlyP heAlaGlnSerProLeuGlnIleProValSerProSerPheSerSerThr LeuValSerLeuPheGlnSerSerProGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906041	A A	ATTTTCCA others(308): Show ATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGC ACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTAC TGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGT TTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCAC TTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTG AGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCC TCCACTTTACTGAGTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18962.hp1 NA18962.hp1	a0150 a0150	a0150c0168 a0150c0168	a0150c0168t0001 a0150c0168t0001	a0150c0168t0001g0001 a0150c0168t0001g0001	1	359	0.0028	315	c.661 others(322): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTCCCCA GTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGA GTCTTTTCCAGAGTTCCCCTGAGAGAA	p.Arg others(328): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgSerGlnArgThrSerGluGlyP heProGlnSerProLeuGlnIleProValSerSerSerSerSerSerThr LeuLeuSerLeuPheGlnSerSerProGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906041	A A	ATTTTCCA others(308): Show ATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGC ACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTAC TGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGT TTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCAC TTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTG AGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCC TCCACTTTACTGAGTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18949.hp2 NA18979.hp2 NA19063.hp1 others(1): Show NA18949.hp2 NA18979.hp2 NA19063.hp1 NA19084.hp1	a0021 a0021	a0021c0020 a0021c0020	a0021c0020t0001 a0021c0020t0001	a0021c0020t0001g0001 a0021c0020t0001g0001	4	359	0.0111	315	c.661 others(322): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACA GTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGA GTCTTTTCCAGAGTTCCCCTGAGAGAA	p.Arg others(328): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgSerGlnArgThrSerGluGlyP heAlaGlnSerProLeuGlnIleProValSerSerSerSerSerSerThr LeuLeuSerLeuPheGlnSerSerProGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906056	C C	CCTGAGAG others(308): Show CCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCA GATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGA GTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCA CTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTATTGAGTATTTT CCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGT CTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGT CTTTTCCAGAGTTTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18942.hp1 NA18987.hp2 NA18942.hp1 NA18987.hp2	a0054 a0054	a0054c0042 a0054c0042	a0054c0042t0001 a0054c0042t0001	a0054c0042t0001g0002 a0054c0042t0001g0002	2	359	0.0056	315	c.661 others(322): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCA GTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGA GTCTTTTCCAGAGTTTCTCTGAGAGAA	p.Arg others(328): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerProSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgThrGlnSerThrPheGluGlyP heAlaGlnSerProLeuGlnIleProValSerProSerSerSerSerThr LeuLeuSerLeuPheGlnSerPheSerGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906056	C C	CCTGAGAG others(308): Show CCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCA GATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGA GTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCA CTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTT CCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGT CTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGAGT CTTTTCCAGAGTTTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01884.hp2 HG01884.hp2	a0082 a0082	a0082c0121 a0082c0121	a0082c0121t0003 a0082c0121t0003	a0082c0121t0003g0005 a0082c0121t0003g0005	1	359	0.0028	315	c.661 others(322): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCA GTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGA GTCTTTTCCAGAGTTTCTCTGAGAGAA	p.Arg others(328): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgThrGlnSerThrPheGluGlyP heProGlnSerProLeuGlnIleProValSerProSerPheSerSerThr LeuLeuSerLeuPheGlnSerPheSerGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906056	C C	CCTGAGAG others(308): Show CCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCA GATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGA GTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCA CTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTT CCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGT CTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGT CTTTTCCAGAGTTTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18969.hp2 NA18973.hp1 NA18969.hp2 NA18973.hp1	a0152 a0154 a0152 a0154	a0152c0131 a0154c0133 a0152c0131 a0154c0133	a0152c0131t0001 a0154c0133t0001 a0152c0131t0001 a0154c0133t0001	a0152c0131t0001g0001 a0154c0133t0001g0002 a0152c0131t0001g0001 a0154c0133t0001g0002	2	359	0.0056	315	c.661 others(322): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCA GTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGA GTCTTTTCCAGAGTTTCTCTGAGAGAA	p.Arg others(328): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgThrGlnSerThrPheGluGlyP heAlaGlnSerProLeuGlnIleProValSerProSerSerSerSerThr LeuLeuSerLeuPheGlnSerPheSerGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906056	C C	CCTGAGAG others(308): Show CCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCA GATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGA GTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCA CTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTT CCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGT CTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGAGT CTTTTCCAGAGTTTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02145.hp1 HG02145.hp1	a0092 a0092	a0092c0149 a0092c0149	a0092c0149t0001 a0092c0149t0001	a0092c0149t0001g0001 a0092c0149t0001g0001	1	359	0.0028	315	c.661 others(322): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCA GTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGA GTCTTTTCCAGAGTTTCTCTGAGAGAA	p.Arg others(328): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgThrGlnSerThrPheGluGlyP heAlaGlnSerProLeuGlnIleProValSerProSerPheSerSerThr LeuLeuSerLeuPheGlnSerPheSerGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAP1B_chr5_72102475_72214565	72125880	T T	TAAGAATT others(308): Show TAAGAATTCACCCTTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	342	0.0029	315	c.286 others(334): Show c.286+10098_286+10099insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAGAATTCACCCTTCTG		MAP1B	ENSG00000131711.15	transcript	ENST00000296755.12	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr5	TogoVar
MAP3K21_chr1_233322724_233390148	233383384	T T	TAAAAGCT others(308): Show TAAAAGCTTTACTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAA AAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp1 HG01192.hp2 HG00642.hp1 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0032 a0002c0002t0032	a0002c0002t0032g0148 a0002c0002t0032g0159 a0002c0002t0032g0148 a0002c0002t0032g0159	2	372	0.0054	315	c.68 others(324): Show c.687_*688insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAAA AAAAAAAAAAAAAAAAAAAGCTTTACTGA		MAP3K21	ENSG00000143674.11	transcript	ENST00000366624.8	protein_coding	10/10				688	INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP3K3_chr17_63617417_63701305	63654315	A A	ACAGTACG others(308): Show ACAGTACGTGACCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGGCTCAGCCTCCCAAGTAGC TGGGACTACAGGCACCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03209.hp1 NA18522.hp1 HG02970.hp2 HG03209.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0018 a0001c0001t0020 a0001c0001t0011 a0001c0001t0018 a0001c0001t0020	a0001c0001t0011g0025 a0001c0001t0018g0024 a0001c0001t0020g0026 a0001c0001t0011g0025 a0001c0001t0018g0024 a0001c0001t0020g0026	3	180	0.0167	315	c.267 others(332): Show c.267+1677_267+1678insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGGCTCAGCCTCCCAAGT AGCTGGGACTACAGGCACCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCAGTACGTGACCTTTTTT		MAP3K3	ENSG00000198909.8	transcript	ENST00000361733.8	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr17	TogoVar
MAP3K3_chr17_63617417_63701305	63654315	A A	ACAGTACG others(308): Show ACAGTACGTGACCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGGCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(56): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00639.hp1 HG01069.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG02004.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03831.hp1 HG06807.hp1 NA18906.hp2 NA18950.hp1 NA18952.hp2 NA18971.hp2 NA19005.hp1 NA19056.hp1 NA19077.hp1 NA19086.hp1 NA19087.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0005t0022	a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0010 others(50): Show a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0159 a0001c0001t0004g0001 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0006g0008 a0001c0001t0006g0120 a0001c0001t0006g0126 a0001c0001t0006g0130 a0001c0001t0010g0125 a0001c0001t0015g0127 a0001c0001t0016g0140 a0001c0001t0017g0007 a0001c0001t0019g0143 a0001c0005t0022g0139	59	180	0.3278	315	c.267 others(332): Show c.267+1677_267+1678insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGGCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCAGTACGTGACCTTTTTT		MAP3K3	ENSG00000198909.8	transcript	ENST00000361733.8	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr17	TogoVar
MBOAT1_chr6_20094684_20217469	20168889	T T	TACAAATA others(308): Show TACAAATATCATGGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01243.hp1 HG01243.hp2 others(8): Show HG00544.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG02257.hp1 HG02273.hp1 NA18522.hp1 NA18957.hp1 NA18983.hp2 NA19005.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0023 a0002c0002t0031 a0003c0003t0001 a0003c0003t0002 a0003c0003t0006	a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0090 others(8): Show a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0090 a0001c0001t0004g0099 a0001c0001t0007g0271 a0001c0001t0012g0138 a0001c0001t0023g0086 a0002c0002t0031g0310 a0003c0003t0001g0007 a0003c0003t0002g0229 a0003c0003t0006g0139	11	336	0.0327	315	c.100 others(334): Show c.100-16121_100-16120insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCCGCCCATGATATTTGT		MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12						chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20168889	T T	TACAAATA others(308): Show TACAAATATCATGGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAGAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01257.hp2 HG01433.hp1 HG00642.hp1 HG01257.hp2 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0053 a0001c0001t0001 a0001c0001t0053	a0001c0001t0001g0164 a0001c0001t0001g0277 a0001c0001t0053g0128 a0001c0001t0001g0164 a0001c0001t0001g0277 a0001c0001t0053g0128	3	336	0.0089	315	c.100 others(334): Show c.100-16121_100-16120insTTTTTTTTTTTTTCTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCCGCCCATGATATTTGT		MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12						chr6	TogoVar
MBP_chr18_76973833_77137783	77044931	G G	GCCGGGCG others(308): Show GCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18906.hp2 HG03195.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0179 a0001c0002t0001g0142 a0001c0001t0001g0179 a0001c0002t0001g0142	2	396	0.0051	315	c.139 others(334): Show c.139+21366_139+21367insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCACCCAGGTCGGACTGCGGACTGCAGT GGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTC TCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8						chr18	TogoVar
MBP_chr18_76973833_77137783	77118063	T T	TGGGGACA others(308): Show TGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATG GGGACAGTGGGTTGGGGTGGGATGGGGGACAGTGGGTTGGGGTGGGATGG GGACAGTGGGTTGGGGTGGGATGGGGGACAGTGGGTTGGGGCGGGATGGG GACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGA CAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACA GTGGGTTGGAGTGGGATGGGGACAGTGGGTTGGGGTGGGACGGGGACAGG GGGTTGGGGCGGGATG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0243 a0001c0001t0006g0243	1	396	0.0025	315	c.-25 others(334): Show c.-25-12778_-25-12777insCATCCCGCCCCAACCCCCTGTCCCCG TCCCACCCCAACCCACTGTCCCCATCCCACTCCAACCCACTGTCCCCATC CCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCC GCCCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGC CCCAACCCACTGTCCCCCATCCCACCCCAACCCACTGTCCCCATCCCACC CCAACCCACTGTCCCCCATCCCACCCCAACCCACTGTCCCCATCCCGCCC CAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCC		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8						chr18	TogoVar
METRNL_chr17_83074609_83100122	83090443	C C	CCCGCCCC others(308): Show CCCGCCCCACACACACACCCCCCCGCCCCACACACACACACACCCCCCCC CACACACACCCCGCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCTG CCCCAGGGTGGGAGCCACACACACCCCCGCCCCACACACACACACCCCCG CCCCGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCACACACACACAC CCCCGCCCCACACACACACACCCCCGCCCCACACACACACACCCCCGCCC CGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGT GGGAGCCACACACACA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	399	0.0025	315	c.557 others(332): Show c.557-2722_557-2721insGCCCCACACACACACCCCCCCGCCCCAC ACACACACACACCCCCCCCCACACACACCCCGCCCCGCCCCAGGGTGGGA GCCACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCC CCACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACCC CCGCCCCACACACACACACCCCCGCCCCACACACACACACCCCCGCCCCA CACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCC CCACCCCCCGCCCCAGGGTGGGAGCCACACACACACC		METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr17	TogoVar
MFSD14A_chr1_100033095_100088377	100086087	C C	CAAATTAA others(308): Show CAAATTAATACAAATGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG02486.hp1 others(6): Show HG01884.hp1 HG02451.hp1 HG02486.hp1 HG02622.hp1 HG02723.hp2 HG02970.hp2 HG02976.hp2 HG03209.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0181 a0001c0001t0001g0182 others(6): Show a0001c0001t0001g0009 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195	9	242	0.0372	315	c.38 others(326): Show c.3878_*3879insAAATTAATACAAATGAGGGCCGGGCGCGGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAA		MFSD14A	ENSG00000156875.14	transcript	ENST00000370152.8	protein_coding					2711		chr1	TogoVar
MGAT5B_chr17_76863404_76955393	76952974	G G	GCTAATTT others(308): Show GCTAATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCG CTCTTTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTCA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00639.hp1 others(20): Show HG00099.hp1 HG00280.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01256.hp2 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01981.hp2 HG01993.hp2 HG02109.hp2 HG02258.hp1 HG02630.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0011 others(4): Show a0001c0001 a0001c0003 a0001c0011 a0002c0002 a0002c0006 a0002c0015 a0002c0028	a0001c0001t0005 a0001c0001t0013 a0001c0003t0025 others(7): Show a0001c0001t0005 a0001c0001t0013 a0001c0003t0025 a0001c0003t0027 a0001c0011t0013 a0002c0002t0005 a0002c0002t0023 a0002c0006t0008 a0002c0015t0005 a0002c0028t0030	a0001c0001t0005g0029 a0001c0001t0005g0040 a0001c0001t0005g0042 others(20): Show a0001c0001t0005g0029 a0001c0001t0005g0040 a0001c0001t0005g0042 a0001c0001t0005g0126 a0001c0001t0005g0211 a0001c0001t0013g0013 a0001c0003t0025g0250 a0001c0003t0027g0252 a0001c0011t0013g0180 a0002c0002t0005g0038 a0002c0002t0005g0082 a0002c0002t0005g0083 a0002c0002t0005g0088 a0002c0002t0005g0090 a0002c0002t0005g0096 a0002c0002t0005g0165 a0002c0002t0005g0239 a0002c0002t0005g0240 a0002c0002t0005g0259 a0002c0002t0023g0087 a0002c0006t0008g0199 a0002c0015t0005g0081 a0002c0028t0030g0061	23	278	0.0827	315	c.41 others(326): Show c.4136_*4137insCTAATTTTTGTATTTTTTTTTTTTTTTTTTTTTT TGAGACAGAGTCTCGCTCTTTTGCCCAGGCTGGAGTGCAGTGGCGCGATC TCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCTAA TTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGC		MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding					2582		chr17	TogoVar
MICAL3_chr22_17782649_18029561	17877034	T T	TAGGGAAG others(308): Show TAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATGG AGGTTAGGGAAGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTT ATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGA GGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTA GGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTGAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTTAGGGAGGTG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0003 a0003	a0003c0047 a0003c0047	a0003c0047t0001 a0003c0047t0001	a0003c0047t0001g0228 a0003c0047t0001g0228	1	274	0.0037	315	c.224 others(334): Show c.2242-5012_2242-5011insCACCTCCCTAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTCACCTCCCTAACC TCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCT AACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACTT CCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTA ACCTCCATAACCTCCCTCACCTCCATAACTTCCCTAACCTCCATAACCTC CATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCT		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877243	G G	GGGAGGTG others(308): Show GGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTGAGGGAG GTTAGGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTAAGGAGGTTAG GGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATGGCAG TTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGG GAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGT TAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGG AGGTTAGGGAGATTAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0191 a0002c0006t0002g0191	1	274	0.0037	315	c.224 others(334): Show c.2242-5221_2242-5220insATAATCTCCCTAACCTCCATAACTGC CATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCATAA CTTCCCTAACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCC ATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAAC CTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCT TAACCTCCCTAACCTCCATAATCTCCCTAACCTCCCTAACCTCCCTCACC TCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877283	G G	GGTGAGGG others(308): Show GGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTA GGGAGATTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAG GGAGGTTAGGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTGAGGGAGG TTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGATTATG GAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TATGGAGGTTAGGGAA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	274	0.0037	315	c.224 others(334): Show c.2242-5261_2242-5260insTTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAATCTCC CTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTCAC CTCCATAATCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCA TAACCTCCCTCACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACC TCCCTAACCTCCATAACCTCCCTCACCTCCATAATCTCCCTAACCTCCAT AACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTCAC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MID2_chrX_107820866_107936637	107910768	T T	TTTTCCTT others(308): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0115 a0001c0001t0004g0115	1	181	0.0055	315	c.107 others(334): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC		MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
MLPH_chr2_237482251_237560322	237543646	T T	TTGGGGGG others(308): Show TTGGGGGGACAGTGGTGAGTGGGGGGATGGTGAGTGGGCACGGTGGTGAG TGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGT GAGTTGGGGGGACAGTGGTGAGTGGGGGGATGGTGAGTGGGCACGGTGGT GAGTGGAGGGGACAGTGGTGAGTGGGGACATTGGTGAGTGGGGGGACAGT GGTGAGTGGAGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGG GACAGTGGTGAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGG GTACAGTGGTGAGTGG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0091 a0003c0003t0001g0091	1	286	0.0035	315	c.153 others(332): Show c.1539+987_1539+988insTGGGGGGACAGTGGTGAGTGGGGGGATG GTGAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGT GGTGAGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAGTGGGGGG ATGGTGAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGAC ATTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGA GGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGT GGAGGGGACAGTGGTGAGTGGGTACAGTGGTGAGTGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15						chr2	TogoVar
MLPH_chr2_237482251_237560322	237543785	G G	GGGTACAG others(308): Show GGGTACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGT GGAGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTTGGGGGACAGTG GTGAGTTGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTG GTGAGTGGAGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGAGGG GACAGTGGTGAGTGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGG GACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGG TGCACGGTAGTGAGTC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0126 a0006c0006t0003g0126	1	286	0.0035	315	c.153 others(334): Show c.1539+1128_1539+1129insTACAGTGGTGAGTGGGGGGACAGTGG TGAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGAGGGGACA GTGGTGAGTTGGGGGACAGTGGTGAGTTGGGACAGTGGTGAGTGGGGGGA CAGTGGCAAGTGGGCACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGAG GGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGT GGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGT TGGGGGACAGTGGTGAGTGGGTGCACGGTAGTGAGTCGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544349	T T	TGGGGGGA others(308): Show TGGGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTG AGTGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTG GTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACG GTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGCACG GTAGTGAGTGGGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGA CAGTGGTGAGTGGGTGCACGGTAGTGAGTCGGGGGACAGTGGTGAGTGGG GGAACAGTGGTGAGTG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0068	1	286	0.0035	315	c.153 others(334): Show c.1539+1694_1539+1695insGGACAGTGGTGAGTGGGGGGACAGTG GCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGT GGTGAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGG ACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGG ACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGCACAGTGGTGAGTGGGG ACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGTGCACGGTAGTGAGTCG GGGGACAGTGGTGAGTGGGGGAACAGTGGTGAGTGGGGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MON1B_chr16_77186190_77207398	77196295	T T	TTAAATTT others(308): Show TTAAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01123.hp1 others(12): Show HG01069.hp1 HG01071.hp1 HG01123.hp1 HG01943.hp2 HG01975.hp1 HG02523.hp1 HG02622.hp2 HG02647.hp1 HG02818.hp1 HG03486.hp1 HG03710.hp2 HG03927.hp2 HG04184.hp2 NA18906.hp2 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0006 a0001c0001 a0001c0010 a0002c0006	a0001c0001t0012 a0001c0001t0023 a0001c0001t0024 others(5): Show a0001c0001t0012 a0001c0001t0023 a0001c0001t0024 a0001c0001t0071 a0001c0010t0023 a0002c0006t0012 a0002c0006t0072 a0002c0006t0073	a0001c0001t0012g0006 a0001c0001t0023g0006 a0001c0001t0023g0057 others(6): Show a0001c0001t0012g0006 a0001c0001t0023g0006 a0001c0001t0023g0057 a0001c0001t0024g0006 a0001c0001t0071g0046 a0001c0010t0023g0006 a0002c0006t0012g0006 a0002c0006t0072g0006 a0002c0006t0073g0006	15	440	0.0341	315	c.144 others(332): Show c.1443+624_1443+625insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTAAATTTTTTT		MON1B	ENSG00000103111.15	transcript	ENST00000248248.8	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
MOSPD2_chrX_14868421_14927327	14899114	T T	TGAACTAG others(308): Show TGAACTAGAAAGTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC TCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTT TTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGAC CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTG AGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	268	0.0037	315	c.478 others(332): Show c.478-1444_478-1443insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAT TTTTTTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCC TGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAG CGTGAGCCACCGCGCCCGGCGAACTAGAAAGTCTTTC		MOSPD2	ENSG00000130150.12	transcript	ENST00000380492.8	protein_coding	5/14					INFO_REALIGN_3_PRIME	chrX	TogoVar
MPPED1_chr22_43407014_43512848	43496845	T T	TGGTGGTG others(308): Show TGGTGGTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTG GTGGAGGTAGTGGTGGTGGAGATGGTGGTGGAGATGGTGGTGGTGGAGAT AGTGGTGGTGGAGGTGATGGTGGAGGTAGTGGTGGTGGAGGTGGTGGTGG TGGAGATGGTGGTGGTGGAGATGGTGGTGGTGGTGGAGATGGTGGTGGTG GAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTGGAGAT GGTGGTGGAGATGGTGTTGGTGGAGATGGTGGTGGTGGAGATAGTGGTGG TGGAGGTGATGGTGGA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0210 a0001c0001t0015g0210	1	250	0.0040	315	c.633 others(332): Show c.633-1387_633-1386insGGTGGAGATGGTGGTGGTGGAGGTAGTG GTGGTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGA GATGGTGGTGGTGGAGATAGTGGTGGTGGAGGTGATGGTGGAGGTAGTGG TGGTGGAGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGATGGTGGTGGTG GTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGA GGTAGTGGTGGTGGAGATGGTGGTGGAGATGGTGTTGGTGGAGATGGTGG TGGTGGAGATAGTGGTGGTGGAGGTGATGGTGGAGGT		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MROH7_chr1_54636786_54715266	54698798	T T	TTTTTTTT others(308): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCTC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA19000.hp2 NA18990.hp2 NA19000.hp2	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0001 a0015c0021t0001	a0015c0021t0001g0280 a0015c0021t0001g0316 a0015c0021t0001g0280 a0015c0021t0001g0316	2	380	0.0053	315	c.296 others(334): Show c.2965-1510_2965-1509insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTCTTTTTTTTTTTTT		MROH7	ENSG00000184313.20	transcript	ENST00000421030.7	protein_coding	17/23					INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPL48_chr11_73782874_73870133	73851731	A A	AAAGAATG others(308): Show AAAGAATGACAGGTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp2 HG01081.hp2 others(28): Show HG00735.hp2 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01261.hp1 HG01515.hp2 HG01516.hp1 HG02074.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02818.hp2 HG03486.hp2 HG04204.hp1 HG04228.hp1 NA18948.hp2 NA18953.hp1 NA18961.hp2 NA18963.hp2 NA18994.hp2 NA19007.hp2 NA19043.hp2 NA19057.hp2 NA19068.hp2 NA19070.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0195 a0001c0001t0003g0299 others(27): Show a0001c0001t0003g0005 a0001c0001t0003g0195 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0304 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0003g0331	31	336	0.0923	315	c.371 others(332): Show c.371+6772_371+6773insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCAAGAATGACAGGTTCTT		MRPL48	ENSG00000175581.14	transcript	ENST00000310614.12	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
MRPL54_chr19_3757682_3772565	3762006	A A	AGACCCTG others(308): Show AGACCCTGTTTTTTTTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATGTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG03130.hp2 HG02922.hp1 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0035 a0001c0002t0002g0035	2	434	0.0046	315	c.-69 others(324): Show c.-695_-694insGACCCTGTTTTTTTTGTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATGT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCC		MRPL54	ENSG00000183617.5	transcript	ENST00000330133.5	protein_coding					675		chr19	TogoVar
MRPS35_chr12_27705832_27761295	27711862	A A	AATAATTG others(308): Show AATAATTGTCTATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAG TAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01256.hp1 HG01070.hp2 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0195 a0001c0001t0001g0196	2	358	0.0056	315	c.112 others(330): Show c.112+923_112+924insTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT TAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCATAATTGTCTATTTTT		MRPS35	ENSG00000061794.13	transcript	ENST00000081029.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr12	TogoVar
MS4A13_chr11_60510392_60547721	60525910	T T	TAAAATAT others(308): Show TAAAATATTAGTGGGGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00558.hp1 others(47): Show HG00423.hp2 HG00544.hp2 HG00558.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01192.hp1 HG01192.hp2 HG01361.hp1 HG01361.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02055.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02486.hp1 HG02559.hp1 HG02970.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG04204.hp1 NA18522.hp2 NA18906.hp1 NA18945.hp2 NA18948.hp1 NA18951.hp2 NA18962.hp1 NA18980.hp2 NA18994.hp1 NA19001.hp2 NA19007.hp2 NA19009.hp1 NA19030.hp2 NA19056.hp1 NA19063.hp1 NA19077.hp1 NA19083.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(2): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 a0002c0008t0001	a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0256 others(42): Show a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0281 a0002c0002t0003g0017 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0247 a0002c0002t0004g0248 a0002c0002t0004g0249 a0002c0002t0004g0250 a0002c0002t0004g0251 a0002c0002t0008g0260 a0002c0008t0001g0266	50	422	0.1185	315	c.306 others(330): Show c.306+601_306+602insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAATATTAGTGGGGCA		MS4A13	ENSG00000204979.8	transcript	ENST00000378186.7	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
MS4A13_chr11_60510392_60547721	60525910	T T	TAAAATAT others(308): Show TAAAATATTAGTGGGGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGACTGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0279 a0002c0002t0001g0279	1	422	0.0024	315	c.306 others(330): Show c.306+601_306+602insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGACTGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAATATTAGTGGGGCA		MS4A13	ENSG00000204979.8	transcript	ENST00000378186.7	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
MS4A13_chr11_60510392_60547721	60525910	T T	TAAAATAT others(308): Show TAAAATATTAGTGGGGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00639.hp1 others(39): Show HG00280.hp1 HG00408.hp1 HG00639.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01952.hp2 HG02683.hp1 HG02698.hp1 HG03098.hp1 HG03831.hp2 HG04184.hp2 NA18939.hp1 NA18943.hp2 NA18948.hp2 NA18954.hp2 NA18956.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18973.hp2 NA18979.hp2 NA18984.hp2 NA18985.hp1 NA18992.hp2 NA19003.hp1 NA19005.hp1 NA19009.hp2 NA19055.hp2 NA19056.hp2 NA19065.hp2 NA19066.hp2 NA19072.hp2 NA19074.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0003 a0003c0007 a0005c0009 a0002c0003 a0003c0007 a0005c0009	a0002c0003t0001 a0003c0007t0001 a0005c0009t0001 a0002c0003t0001 a0003c0007t0001 a0005c0009t0001	a0002c0003t0001g0012 a0002c0003t0001g0013 a0002c0003t0001g0030 others(35): Show a0002c0003t0001g0012 a0002c0003t0001g0013 a0002c0003t0001g0030 a0002c0003t0001g0205 a0002c0003t0001g0206 a0002c0003t0001g0207 a0002c0003t0001g0208 a0002c0003t0001g0209 a0002c0003t0001g0210 a0002c0003t0001g0212 a0002c0003t0001g0213 a0002c0003t0001g0214 a0002c0003t0001g0215 a0002c0003t0001g0216 a0002c0003t0001g0217 a0002c0003t0001g0218 a0002c0003t0001g0219 a0002c0003t0001g0220 a0002c0003t0001g0221 a0002c0003t0001g0222 a0002c0003t0001g0223 a0002c0003t0001g0224 a0002c0003t0001g0225 a0002c0003t0001g0226 a0002c0003t0001g0227 a0002c0003t0001g0228 a0002c0003t0001g0237 a0002c0003t0001g0238 a0002c0003t0001g0239 a0002c0003t0001g0240 a0002c0003t0001g0242 a0002c0003t0001g0243 a0002c0003t0001g0244 a0002c0003t0001g0245 a0002c0003t0001g0246 a0002c0003t0001g0280 a0003c0007t0001g0204 a0005c0009t0001g0013	42	422	0.0995	315	c.306 others(330): Show c.306+601_306+602insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAATATTAGTGGGGCA		MS4A13	ENSG00000204979.8	transcript	ENST00000378186.7	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
MS4A13_chr11_60510392_60547721	60525915	T T	TATTAGTG others(308): Show TATTAGTGGGGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0211 a0002c0003t0001g0211	1	422	0.0024	315	c.306 others(330): Show c.306+601_306+602insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAATTAGTGGGGCA		MS4A13	ENSG00000204979.8	transcript	ENST00000378186.7	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
MUC4_chr3_195741771_195816929	195776385	C C	CCATACCT others(308): Show CCATACCTTCCACACCCATACCTTCCACGGCCATACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACACCCTTACCTTCCACACCCTTACCTTC CACACCCATACCTTCCACGGCCATACCTTCCACGGTCATACCTTCCGCAC CCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATA CCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTC CACACCCTTACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACGG CCATACCTTCCACAGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0084 a0084	a0084c0192 a0084c0192	a0084c0192t0004 a0084c0192t0004	a0084c0192t0004g0242 a0084c0192t0004g0242	1	249	0.0040	315	c.129 others(336): Show c.12943+1917_12943+1918insACTGTGGAAGGTATGGCCGTGGAA GGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTAAGGGTGTGGAAGGTAT GGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTG CGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAA GGTATGACCGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTAA GGGTGTGGAAGGTAAGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTATG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195777450	C C	CCATACCT others(308): Show CCATACCTTCCACGGCCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACATCCATACCTTCCACAGTCATACCTTCCACAGTCATACCTTC CACAGTCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACATCCATACCTTCCACGGCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACGG CCATACCTTCCACGGT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0004 a0004	a0004c0180 a0004c0180	a0004c0180t0003 a0004c0180t0003	a0004c0180t0003g0204 a0004c0180t0003g0204	1	249	0.0040	315	c.129 others(334): Show c.12943+852_12943+853insACCGTGGAAGGTATGGCCGTGGAAGG TATGGGTGTGGAAGGTAAGGGTGTGGAAGGTATGGGTGTGGAAGGTATGG GTGTGGAAGGTATGGCCGTGGAAGGTATGGATGTGGAAGGTATGGGTGTG GAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGG TATGACTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGA CTGTGGAAGGTATGACTGTGGAAGGTATGGATGTGGAAGGTATGGGTGTG GAAGGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTATG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195777735	C C	CCATACCT others(308): Show CCATACCTTCCACGGCCATACCTTCCACACCCATACCTTCCACACCCTTA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCTTACCTTC CACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAG TCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACATCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACAC CCATACCTTCCACAGT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19070.hp1 NA19064.hp2 NA19070.hp1	a0004 a0145 a0004 a0145	a0004c0007 a0145c0196 a0004c0007 a0145c0196	a0004c0007t0003 a0145c0196t0003 a0004c0007t0003 a0145c0196t0003	a0004c0007t0003g0154 a0145c0196t0003g0208 a0004c0007t0003g0154 a0145c0196t0003g0208	2	249	0.0080	315	c.129 others(334): Show c.12943+567_12943+568insACTGTGGAAGGTATGGGTGTGGAAGG TATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGG GTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGATGTG GAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGG TATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAAGG GTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTG GAAGGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTATG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATA others(308): Show TATATATACTTAAATATATACTTATTATATAAATATATATAAATATATAT AAATATAAATATATATATTTAAATATAAGTATATATAAATATATATATTT AAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATAAAT ATATATTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTAT ATATATAAATATATATTTAAATATAAGTATATATATAAATATATATTTAA ATATAAGTATATATATAAATATAAGTATATATATAAATATATATTTAAAT ATAAGTATATATATAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG03139.hp1 others(2): Show HG01884.hp2 HG02486.hp2 HG03139.hp1 HG06807.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0009 a0002c0004t0013 a0001c0001t0002 a0001c0001t0009 a0002c0004t0013	a0001c0001t0002g0012 a0001c0001t0009g0010 a0001c0001t0009g0011 others(2): Show a0001c0001t0002g0012 a0001c0001t0009g0010 a0001c0001t0009g0011 a0001c0001t0009g0013 a0002c0004t0013g0007	5	326	0.0153	315	c.358 others(332): Show c.358+3440_358+3441insCTTAAATATATACTTATTATATAAATAT ATATAAATATATATAAATATAAATATATATATTTAAATATAAGTATATAT AAATATATATATTTAAATATAAGTATATATATAAATATATATTTAAATAT AAGTATATATAAATATATATTTAAATATAAGTATATATATAAATATATAT TTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATAT AAATATATATTTAAATATAAGTATATATATAAATATAAGTATATATATAA ATATATATTTAAATATAAGTATATATATAAATATATA		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr9	TogoVar

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