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
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(203): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0003 a0001c0001t0069g0003	1	220	0.0045	210	c.-43 others(221): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGA		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding					4191		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(203): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0003 a0001c0001t0010g0003	1	220	0.0045	210	c.-43 others(221): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGA		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding					4191		chr8	TogoVar
LUZP2_chr11_24492053_25087638	25044079	A A	ATATATAT others(203): Show ATATATATAGTCTATATATATATCTGATATATATATAGTCTATATATATC TGATAAGACTATATATATATATCTGATATATATATAGACTCTATATATCA GAGATATATAGACTCTATATATATCAGATATATATATAGAGTCTATATAT ATCTCTGATATATAGAGTCTATATATATCTCTGATATATAGAGTCTATAT ATCTGATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02280.hp1 others(1): Show HG01884.hp2 HG01891.hp2 HG02280.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0033 a0001c0001t0011 a0001c0001t0033	a0001c0001t0011g0037 a0001c0001t0011g0038 a0001c0001t0011g0080 others(1): Show a0001c0001t0011g0037 a0001c0001t0011g0038 a0001c0001t0011g0080 a0001c0001t0033g0112	4	99	0.0404	210	c.766 others(227): Show c.766-5959_766-5958insTATATATAGTCTATATATATATCTGATA TATATATAGTCTATATATATCTGATAAGACTATATATATATATCTGATAT ATATATAGACTCTATATATCAGAGATATATAGACTCTATATATATCAGAT ATATATATAGAGTCTATATATATCTCTGATATATAGAGTCTATATATATC TCTGATATATAGAGTCTATATATCTGATATAT		LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	9/11						chr11	TogoVar
LYPD8_chr1_248734415_248760759	248742472	T T	TGCTCTGG others(203): Show TGCTCTGGTGGGGATGTTGGCAGCCGGGGAGATTATGCTCTGGTGGGGAT GTTGGCAGCGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCCGGGGAG ATTATGCTCTGGTGGGGATGTTGGCAGTCGGGGGAGATTATGCTCTGGTG GGGATGTTGGCAGCGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCC GGGGAGATTAC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03490.hp1 HG04228.hp2 HG03239.hp2 HG03490.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0148 a0001c0001t0001g0031 a0001c0001t0001g0148	3	370	0.0081	210	c.475 others(227): Show c.475+2460_476-2624dupGTAATCTCCCCGGCTGCCAACATCCCCA CCAGAGCATAATCTCCCCCGCTGCCAACATCCCCACCAGAGCATAATCTC CCCCGACTGCCAACATCCCCACCAGAGCATAATCTCCCCGGCTGCCAACA TCCCCACCAGAGCATAATCTCCCCGCTGCCAACATCCCCACCAGAGCATA ATCTCCCCGGCTGCCAACATCCCCACCAGAGC		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6						chr1	TogoVar
MACROD2_chr20_13990516_16058197	14862420	T T	TAAATATA others(203): Show TAAATATATATATAAATATATATAAATAAATATATAAATATATATAAATA TATATATAAATATATATAAATATATATAAATATATATATAAATATATATA AATATATATATAAATATATATATAAATATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0013 a0002c0002t0007g0013	1	20	0.0500	210	c.418 others(231): Show c.418+177462_418+177463insAATATATATATAAATATATATAAA TAAATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATATAAATATATATATAAA TATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAA		MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr20	TogoVar
MAD1L1_chr7_1810795_2237945	1930023	C C	CCCCCACT others(203): Show CCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCCTCG CCCCGTCCCCACTGCCACGTCCCCCTCGCCCCATCCCCCACTGCCACGTC CCACTCGCCCCGTCCCCACTGCCACGTCCCCACTGCCACGTCCCCCTCGC CCCGTCCCCACTGCCACGTCCCCCTCGCCCCGTCCCCACTGCCACGTCCC CCTCGCCCCGT	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0043	1	257	0.0039	210	c.180 others(229): Show c.1807+6663_1807+6664insACGGGGCGAGGGGGACGTGGCAGTGG GGACGGGGCGAGGGGGACGTGGCAGTGGGGACGGGGCGAGGGGGACGTGG CAGTGGGGACGTGGCAGTGGGGACGGGGCGAGTGGGACGTGGCAGTGGGG GATGGGGCGAGGGGGACGTGGCAGTGGGGACGGGGCGAGGGGGACGTGGC AGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGG		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18						chr7	TogoVar
MAGEC1_chrX_141898894_141914374	141905969	C C	CCTTTTGA others(203): Show CCTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTC CTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTC AGAGAACTTCTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGC TCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAG AACTCAGAGTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18941.hp2 NA18941.hp2	a0095 a0095	a0095c0120 a0095c0120	a0095c0120t0001 a0095c0120t0001	a0095c0120t0001g0001 a0095c0120t0001g0001	1	269	0.0037	210	c.661 others(217): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTCCCCAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAA	p.Arg others(223): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheProGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArg	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(203): Show CCTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTC CTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTC AGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGC TCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAG AACTCAGAGTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00408.hp1 HG00544.hp1 others(75): Show HG00099.hp1 HG00408.hp1 HG00544.hp1 HG00621.hp1 HG00639.hp2 HG01074.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02080.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03831.hp1 HG04184.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp2 NA18955.hp1 NA18960.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18980.hp2 NA18983.hp1 NA18987.hp1 NA18991.hp2 NA18998.hp1 NA19006.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19057.hp2 NA19064.hp1 NA19082.hp1 NA19084.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20905.hp1	a0004 a0006 a0009 others(17): Show a0004 a0006 a0009 a0013 a0016 a0017 a0018 a0020 a0028 a0029 a0034 a0038 a0053 a0067 a0071 a0076 a0085 a0089 a0098 a0112	a0004c0004 a0004c0131 a0006c0016 others(26): Show a0004c0004 a0004c0131 a0006c0016 a0006c0045 a0006c0125 a0009c0046 a0009c0053 a0009c0126 a0009c0127 a0013c0011 a0016c0008 a0017c0012 a0018c0017 a0020c0048 a0020c0064 a0020c0128 a0028c0024 a0029c0019 a0034c0047 a0038c0123 a0038c0124 a0053c0130 a0067c0129 a0071c0133 a0076c0122 a0085c0059 a0089c0132 a0098c0121 a0112c0142	a0004c0004t0001 a0004c0131t0001 a0006c0016t0001 others(27): Show a0004c0004t0001 a0004c0131t0001 a0006c0016t0001 a0006c0045t0001 a0006c0125t0003 a0009c0046t0001 a0009c0053t0001 a0009c0126t0003 a0009c0127t0003 a0013c0011t0002 a0016c0008t0001 a0017c0012t0001 a0018c0017t0001 a0020c0048t0001 a0020c0048t0003 a0020c0064t0001 a0020c0128t0003 a0028c0024t0001 a0029c0019t0001 a0034c0047t0003 a0038c0123t0001 a0038c0124t0003 a0053c0130t0002 a0067c0129t0008 a0071c0133t0001 a0076c0122t0006 a0085c0059t0001 a0089c0132t0001 a0098c0121t0001 a0112c0142t0001	a0004c0004t0001g0001 a0004c0004t0001g0009 a0004c0131t0001g0001 others(30): Show a0004c0004t0001g0001 a0004c0004t0001g0009 a0004c0131t0001g0001 a0006c0016t0001g0002 a0006c0045t0001g0002 a0006c0125t0003g0005 a0009c0046t0001g0002 a0009c0053t0001g0002 a0009c0126t0003g0012 a0009c0127t0003g0005 a0013c0011t0002g0002 a0016c0008t0001g0001 a0017c0012t0001g0001 a0017c0012t0001g0003 a0018c0017t0001g0001 a0020c0048t0001g0003 a0020c0048t0003g0013 a0020c0064t0001g0007 a0020c0128t0003g0005 a0028c0024t0001g0001 a0029c0019t0001g0003 a0034c0047t0003g0005 a0034c0047t0003g0014 a0038c0123t0001g0001 a0038c0124t0003g0005 a0053c0130t0002g0002 a0067c0129t0008g0001 a0071c0133t0001g0001 a0076c0122t0006g0001 a0085c0059t0001g0003 a0089c0132t0001g0002 a0098c0121t0001g0001 a0112c0142t0001g0002	78	346	0.2254	210	c.661 others(217): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAA	p.Arg others(223): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArg	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(203): Show CCTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTC CTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTC AGAGTACTTTTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGC TCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAG AACTCAGAGTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01169.hp2 NA20300.hp2 HG01169.hp2 NA20300.hp2	a0037 a0037	a0037c0049 a0037c0049	a0037c0049t0001 a0037c0049t0001	a0037c0049t0001g0001 a0037c0049t0001g0001	2	270	0.0074	210	c.661 others(217): Show c.661_662insGTCAGAGTACTTTTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAA	p.Arg others(223): Show p.Arg220_Thr221insSerGlnSerThrPheGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArg	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	141906015	G G	GCTCCTTC others(203): Show GCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGA AGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGT GAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTG AGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATT CCTGTGAGCCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00423.hp1 HG00544.hp2 HG00597.hp2 others(5): Show HG00423.hp1 HG00544.hp2 HG00597.hp2 HG02015.hp1 HG02040.hp1 HG02148.hp2 NA18961.hp1 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	8	353	0.0227	210	c.661 others(217): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAA	p.Arg others(223): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerProSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArg	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	141906015	G G	GCTCCTTC others(203): Show GCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGA AGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTTCTCTCCAGATTCCTGT GAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTG AGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATT CCTGTGAGCCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	346	0.0029	210	c.661 others(217): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTTCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAA	p.Arg others(223): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rSerLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerProSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArg	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	141906021	T T	TCTCCTCC others(203): Show TCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAG AGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTC CTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAA CTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTG AGCCGCTCCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03471.hp1 HG03471.hp1	a0044 a0044	a0044c0110 a0044c0110	a0044c0110t0001 a0044c0110t0001	a0044c0110t0001g0001 a0044c0110t0001g0001	1	355	0.0028	210	c.661 others(217): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTCCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAA	p.Arg others(223): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerSerSerSerThrLeuLe uSerIlePheGlnSerSerProGluArg	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(203): Show CCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCA GATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGA GTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCT CTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTACTGAGTCTTTT CCAGAGTTTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	328	0.0030	210	c.721 others(217): Show c.721_722insTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCT GAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGAT TCCTGTGAGCCGCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTT TCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTC CAGATTCCTGTGAGCCCCTCCT	p.Ser others(223): Show p.Ser240_Ser241insPheSerSerThrLeuLeuSerLeuPheGlnSe rPheSerGluArgThrGlnSerThrPheGluGlyPheAlaGlnSerProL euGlnIleProValSerArgSerPheSerSerThrLeuLeuSerLeuPhe GlnSerPheSerGluArgThrGlnSerThrPheGluGlyPheAlaGlnSe rProLeuGlnIleProValSerProSer	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	141906146	C C	CTTTTCCA others(203): Show CTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCC CCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTAT TGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGT TTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCAC TTTATTGAGTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02055.hp1 HG02055.hp1	a0065 a0065	a0065c0058 a0065c0058	a0065c0058t0001 a0065c0058t0001	a0065c0058t0001g0003 a0065c0058t0001g0003	1	256	0.0039	210	c.754 others(217): Show c.754_755insCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCC CAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATT GAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTT TTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACT TTATTGAGTATTTTCCAGAGTT	p.Ser others(223): Show p.Ser251_Phe252insSerProGluArgThrGlnSerThrPheGluGl yPheProGlnSerProLeuGlnIleProValSerArgSerPheSerSerT hrLeuLeuSerIlePheGlnSerSerProGluArgThrGlnSerThrPhe GluGlyPheProGlnSerProLeuGlnIleProValSerArgSerPheSe rSerThrLeuLeuSerIlePheGlnSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1041/4256	755/3429	252/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906146	C C	CTTTTCCA others(203): Show CTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCC CCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTAT TGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGT TTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCAC TTTACTGAGTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02572.hp1 HG02572.hp1	a0074 a0074	a0074c0097 a0074c0097	a0074c0097t0003 a0074c0097t0003	a0074c0097t0003g0005 a0074c0097t0003g0005	1	256	0.0039	210	c.754 others(217): Show c.754_755insCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCC CAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATT GAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTT TTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACT TTACTGAGTATTTTCCAGAGTT	p.Ser others(223): Show p.Ser251_Phe252insSerProGluArgThrGlnSerThrPheGluGl yPheProGlnSerProLeuGlnIleProValSerArgSerPheSerSerT hrLeuLeuSerIlePheGlnSerSerProGluArgThrGlnSerThrPhe GluGlyPheProGlnSerProLeuGlnIleProValSerProSerPheSe rSerThrLeuLeuSerIlePheGlnSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1041/4256	755/3429	252/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906146	C C	CTTTTCCA others(203): Show CTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCC CCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTAT TGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGT TTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCAC TTTAGTGAGTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03041.hp2 HG03041.hp2	a0081 a0081	a0081c0055 a0081c0055	a0081c0055t0001 a0081c0055t0001	a0081c0055t0001g0003 a0081c0055t0001g0003	1	256	0.0039	210	c.754 others(217): Show c.754_755insCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCC CAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATT GAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTT TTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACT TTAGTGAGTATTTTCCAGAGTT	p.Ser others(223): Show p.Ser251_Phe252insSerProGluArgThrGlnSerThrPheGluGl yPheProGlnSerProLeuGlnIleProValSerArgSerPheSerSerT hrLeuLeuSerIlePheGlnSerSerProGluArgThrGlnSerThrPhe GluGlyPheAlaGlnSerProLeuGlnIleProValSerProSerPheSe rSerThrLeuValSerIlePheGlnSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1041/4256	755/3429	252/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906146	C C	CTTTTCCA others(203): Show CTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCC CCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTAT TGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGT TTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCAC TTTAGTGAGTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01167.hp1 HG06807.hp1 HG01167.hp1 HG06807.hp1	a0024 a0024	a0024c0021 a0024c0021	a0024c0021t0001 a0024c0021t0001	a0024c0021t0001g0001 a0024c0021t0001g0001	2	257	0.0078	210	c.754 others(217): Show c.754_755insCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCC CAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATT GAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTT TTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACT TTAGTGAGTATTTTCCAGAGTT	p.Ser others(223): Show p.Ser251_Phe252insSerProGluArgThrGlnSerThrPheGluGl yPheProGlnSerProLeuGlnIleProValSerArgSerPheSerSerT hrLeuLeuSerIlePheGlnSerSerProGluArgThrGlnSerThrPhe GluGlyPheAlaGlnSerSerLeuGlnIleProValSerProSerPheSe rSerThrLeuValSerIlePheGlnSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1041/4256	755/3429	252/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906175	G G	GAGTACTT others(203): Show GAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCC GCTCCTTCTCCTCCACTTTACTGAGTATTTTCCAGAGTTCCCCTGAGAGA ACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTAT GACCTCCTCCTTCTCCTCTACTTTATTGAGTATTTTCCAGAGTTCTCCTG AGAGTGCTCAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02717.hp1 NA19240.hp1 HG02717.hp1 NA19240.hp1	a0027 a0027	a0027c0020 a0027c0020	a0027c0020t0003 a0027c0020t0003	a0027c0020t0003g0005 a0027c0020t0003g0005	2	353	0.0057	210	c.789 others(217): Show c.789_790insCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTT CTCCTCCACTTTACTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGA GTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTATGACCTCC TCCTTCTCCTCTACTTTATTGAGTATTTTCCAGAGTTCTCCTGAGAGTGC TCAAAGTACTTTTGAGGGTTTT	p.Phe others(223): Show p.Phe263_Ala264insProGlnSerProLeuGlnIleProValSerAr gSerPheSerSerThrLeuLeuSerIlePheGlnSerSerProGluArgT hrGlnSerThrPheGluGlyPheAlaGlnSerProLeuGlnIleProMet ThrSerSerPheSerSerThrLeuLeuSerIlePheGlnSerSerProGl uSerAlaGlnSerThrPheGluGlyPhe	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1076/4256	790/3429	264/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906245	G G	GTGAGTAT others(203): Show GTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGG TTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCA CTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTT GAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCTC CTCCACTTTAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA20129.hp1 NA20129.hp1	a0112 a0112	a0112c0142 a0112c0142	a0112c0142t0001 a0112c0142t0001	a0112c0142t0001g0002 a0112c0142t0001g0002	1	231	0.0043	210	c.846 others(217): Show c.846_847insATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTT TGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCT CCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGT ACTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTC CTCCTCCTCCACTTTATTGAGT	p.Ser others(223): Show p.Ser282_Leu283insIlePheGlnSerSerProGluArgThrGlnSe rThrPheGluGlyPheProGlnSerProLeuGlnIleProValSerSerS erSerSerSerThrLeuLeuSerLeuPheGlnSerSerProGluArgThr GlnSerThrPheGluGlyPheProGlnSerProLeuGlnIleProValSe rSerSerSerSerSerThrLeuLeuSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1133/4256	847/3429	283/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906413	C C	CCACTCCA others(203): Show CCACTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTATTGAGTAT TTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCC AGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTG AGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTT TGCCCAGTCTT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02451.hp2 HG02451.hp2	a0073 a0073	a0073c0076 a0073c0076	a0073c0076t0001 a0073c0076t0001	a0073c0076t0001g0010 a0073c0076t0001g0010	1	353	0.0028	210	c.100 others(219): Show c.1009_1010insCACTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCA CTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTT GAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTC CTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTA CTTTTGAGGGTTTTGCCCAGTCTT	p.Leu others(222): Show p.Leu337delinsProLeuGlnIleProValSerProSerPheSerSer ThrLeuLeuSerIlePheGlnSerSerProGluArgThrGlnSerThrPh eGluGlyPheProGlnSerProLeuGlnIleProValSerProSerPheS erSerThrLeuLeuSerLeuPheGlnSerPheSerGluArgThrGlnSer ThrPheGluGlyPheAlaGlnSerPhe	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1296/4256	1010/3429	337/1142			chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906560	C C	CTGAGTCT others(203): Show CTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGG TTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCA CTTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTT GAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCTC CTCCACTTTAT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02723.hp1 HG02723.hp1	a0078 a0078	a0078c0090 a0078c0090	a0078c0090t0003 a0078c0090t0003	a0078c0090t0003g0005 a0078c0090t0003g0005	1	344	0.0029	210	c.117 others(219): Show c.1174_1175insTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTG CCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTA GTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGG TTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCA CTTTATTGAGTCTTTTCCAGAGTT	p.Ser others(223): Show p.Ser391_Ser392insPheSerGluArgThrGlnSerThrPheGluGl yPheAlaGlnSerSerLeuGlnIleProValSerProSerPheSerSerT hrLeuValSerIlePheGlnSerSerProGluArgThrGlnSerThrPhe GluGlyPheProGlnSerProLeuGlnIleProValSerSerSerSerSe rSerThrLeuLeuSerLeuPheGlnSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1461/4256	1175/3429	392/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAK_chr6_10757723_10843539	10786586	A A	ACTAATGC others(203): Show ACTAATGCACCAGTTCACCTCCTATTCACCACTCCGCTAATTCACCAGTT CACCTCCTATTCACCACTCCGCTAATGCACCAGTTCACCTCCTATTCACC ACTCCGCTAATGCACCAGTTCACCTCCTATTCACCACTCCGCTAATGCAC CAGTTCACCTCCTATTCACCACTCCGCTAATGCACCAGTTCACCTCCTAT TCACCACTCCG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	270	0.0037	210	c.131 others(229): Show c.1317-2015_1317-2014insCGGAGTGGTGAATAGGAGGTGAACTG GTGCATTAGCGGAGTGGTGAATAGGAGGTGAACTGGTGCATTAGCGGAGT GGTGAATAGGAGGTGAACTGGTGCATTAGCGGAGTGGTGAATAGGAGGTG AACTGGTGCATTAGCGGAGTGGTGAATAGGAGGTGAACTGGTGAATTAGC GGAGTGGTGAATAGGAGGTGAACTGGTGCATTAG		MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	10/14						chr6	TogoVar
MAP2K2_chr19_4085321_4129122	4122187	A A	AACCCTCC others(203): Show AACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCT CCCCCACAGGGACCCTCCCACCCCATCTCTCCCCCACAGGGACCCCCTCA CCCCATCTCTCCCCCACAGGGACCCCCTCACCCCATCTCTCCCCCATAGG GACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCT CCCCCATAGGG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01074.hp1 HG01081.hp2 others(11): Show HG01069.hp2 HG01074.hp1 HG01081.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp2 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG02132.hp2 HG02523.hp2 NA18961.hp1 NA19066.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0159 a0001c0002t0001g0009 a0001c0002t0001g0160 others(10): Show a0001c0001t0001g0159 a0001c0002t0001g0009 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170	14	132	0.1061	210	c.92+ others(225): Show c.92+1596_92+1597insCCCTATGGGGGAGAGATGGGGTGGGAGGGT CCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATGGG GTGAGGGGGTCCCTGTGGGGGAGAGATGGGGTGAGGGGGTCCCTGTGGGG GAGAGATGGGGTGGGAGGGTCCCTGTGGGGGAGAGATGGGGTGGGAGGGT CCCTATGGGGGAGAGATGGGGTGGGAGGGT		MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10						chr19	TogoVar
MAP2K2_chr19_4085321_4129122	4122187	A A	AACCCTCC others(203): Show AACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCT CCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCA CCCCATCTCTCCCCCACAGGGACCCCCTCACCCCATCTCTCCCCCACAGG GACCCCCTCACCCCATCTCTCCCCCACAGGGACCCTCCCACCCCATCTCT CCCCCACAGGG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02886.hp1 HG02922.hp1 others(2): Show HG01261.hp1 HG02886.hp1 HG02922.hp1 HG03486.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0007 a0001c0001t0001 a0001c0001t0005 a0001c0002t0007	a0001c0001t0001g0106 a0001c0001t0005g0291 a0001c0001t0005g0292 others(2): Show a0001c0001t0001g0106 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0002t0007g0294	5	123	0.0407	210	c.92+ others(225): Show c.92+1596_92+1597insCCCTGTGGGGGAGAGATGGGGTGGGAGGGT CCCTGTGGGGGAGAGATGGGGTGAGGGGGTCCCTGTGGGGGAGAGATGGG GTGAGGGGGTCCCTGTGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGG GAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAGGGT CCCTATGGGGGAGAGATGGGGTGGGAGGGT		MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10						chr19	TogoVar
MAP2K2_chr19_4085321_4129122	4122187	A A	AACCCTCC others(203): Show AACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCT CCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCA CCCCATCTCTCCCCCACAGGGACCCCCTCACCCCATCTCTCCCCCACAGG GACCCCCTCACCCCATCTCTCCCCCACAGGGACCCTCCCACCCCATCTCT CCCCCATAGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00639.hp2 others(46): Show HG00099.hp2 HG00323.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01934.hp2 HG02027.hp2 HG02071.hp1 HG02148.hp1 HG02155.hp1 HG02300.hp1 HG02451.hp2 HG02559.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18944.hp2 NA18945.hp1 NA18979.hp2 NA18983.hp1 NA18993.hp1 NA19085.hp2 NA19087.hp2 NA19091.hp2 NA20129.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0005 a0001c0007t0001	a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 others(46): Show a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0050 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0002g0080 a0001c0001t0003g0087 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0005g0288 a0001c0001t0005g0289 a0001c0001t0005g0290 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0002g0280 a0001c0003t0001g0012 a0001c0003t0001g0028 a0001c0003t0001g0038 a0001c0003t0001g0082 a0001c0003t0001g0083 a0001c0003t0001g0095 a0001c0003t0001g0096 a0001c0003t0001g0097 a0001c0003t0001g0098 a0001c0003t0001g0101 a0001c0003t0001g0102 a0001c0003t0005g0286 a0001c0003t0005g0287 a0001c0003t0005g0296 a0001c0007t0001g0019	49	167	0.2934	210	c.92+ others(225): Show c.92+1596_92+1597insCCCTATGGGGGAGAGATGGGGTGGGAGGGT CCCTGTGGGGGAGAGATGGGGTGAGGGGGTCCCTGTGGGGGAGAGATGGG GTGAGGGGGTCCCTGTGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGG GAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAGGGT CCCTATGGGGGAGAGATGGGGTGGGAGGGT		MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10						chr19	TogoVar
MAP2K2_chr19_4085321_4129122	4122247	G G	GACCCTCC others(203): Show GACCCTCCCACCCCATCTCTCCCCCACAGGGACCCCCTCACCCCATCTCT CCCCCACAGGGACCCCCTCACCCCATCTCTCCCCCACAGGGACCCTCCCA CCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGG GACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCT CCCCCATAGGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	236	0.0042	210	c.92+ others(225): Show c.92+1536_92+1537insTCCTATGGGGGAGAGATGGGGTGGGAGGGT CCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATGGG GTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTGTGGGG GAGAGATGGGGTGAGGGGGTCCCTGTGGGGGAGAGATGGGGTGAGGGGGT CCCTGTGGGGGAGAGATGGGGTGGGAGGGT		MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10						chr19	TogoVar
MAP2K2_chr19_4085321_4129122	4122247	G G	GACCCTCC others(203): Show GACCCTCCCACCCCATCTCTCCCCCACAGGGACCCCCTCACCCCATCTCT CCCCCACAGGGACCCCCTCACCCCATCTCTCCCCCATAGGGACCCTCCCA CCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGG GACCCTCCCACCACATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCT CCCCCATAGGA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	236	0.0042	210	c.92+ others(225): Show c.92+1536_92+1537insTCCTATGGGGGAGAGATGGGGTGGGAGGGT CCCTATGGGGGAGAGATGTGGTGGGAGGGTCCCTATGGGGGAGAGATGGG GTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGG GAGAGATGGGGTGAGGGGGTCCCTGTGGGGGAGAGATGGGGTGAGGGGGT CCCTGTGGGGGAGAGATGGGGTGGGAGGGT		MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10						chr19	TogoVar
MAP2K2_chr19_4085321_4129122	4122247	G G	GACCCTCC others(203): Show GACCCTCCCACCCCATCTCTCCCCCACAGGGACCCCCTCACCCCATCTCT CCCCCACAGGGACCCCCTCACCCCATCTCTCCCCCATAGGGACCCTCCCA CCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGG GACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCT CCCCCATAGGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG01106.hp2 others(57): Show HG00423.hp2 HG00597.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01943.hp1 HG01993.hp1 HG02015.hp1 HG02109.hp2 HG02258.hp2 HG02293.hp2 HG02602.hp1 HG02602.hp2 HG02735.hp1 HG02738.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp2 HG04115.hp2 HG04228.hp2 NA18747.hp1 NA18943.hp1 NA18944.hp1 NA18948.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18962.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp2 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18987.hp1 NA18999.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19087.hp1 NA19091.hp1 NA20129.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0062 others(52): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0026 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0051 a0001c0001t0002g0075 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0003g0118 a0001c0001t0003g0122 a0001c0001t0003g0172 a0001c0002t0001g0123 a0001c0002t0001g0128 a0001c0002t0001g0135 a0001c0003t0001g0149 a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0002g0140 a0001c0003t0002g0145 a0001c0003t0002g0150	60	295	0.2034	210	c.92+ others(225): Show c.92+1536_92+1537insTCCTATGGGGGAGAGATGGGGTGGGAGGGT CCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATGGG GTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGG GAGAGATGGGGTGAGGGGGTCCCTGTGGGGGAGAGATGGGGTGAGGGGGT CCCTGTGGGGGAGAGATGGGGTGGGAGGGT		MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10						chr19	TogoVar
MAP2K5_chr15_67537703_67812114	67609560	T T	TTCTGTAG others(203): Show TTCTGTAGACCTATTCTATAGGTCTATAGATTCTGTAGACCTATTCTATA GGTCTATAGATTCTGTAGACCTATTCTATAGGTCTATAGATTCTGTAGAC CTATTCTATAGGTCTATAGATTCTGTAGACCTATTCTATAGGTCTATAGA TTCTGTAGACCTATTCTATAGGTCTATAGATTCTGTAGACCTATTCTATA GGTCTATAGAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	212	0.0047	210	c.545 others(227): Show c.545+8835_545+8836insATAGATTCTGTAGACCTATTCTATAGGT CTATAGATTCTGTAGACCTATTCTATAGGTCTATAGATTCTGTAGACCTA TTCTATAGGTCTATAGATTCTGTAGACCTATTCTATAGGTCTATAGATTC TGTAGACCTATTCTATAGGTCTATAGATTCTGTAGACCTATTCTATAGGT CTATAGAATCTGTAGACCTATTCTATAGGTCT		MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	8/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67609590	T T	TTCTGTAG others(203): Show TTCTGTAGACCTATTCTATAGGTCTATAGATTCTGTAGACCTATTCTATA GGTCTATAGATTCTGTAGACCTATTCTATAGGTCTATAGATTCTGTAGAC CTATTCTATAGGTCTATAGATTCTGTAGACCTATTCTATAGGTCTATAGA TTCTGTAGACCTATTCTATAGGTCTATAGAATCTGTAGACCTATTCTATA GGTCTATAGAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03041.hp1 HG03486.hp2 HG02622.hp1 HG03041.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130	3	208	0.0144	210	c.545 others(227): Show c.545+8865_545+8866insATAGATTCTGTAGACCTATTCTATAGGT CTATAGATTCTGTAGACCTATTCTATAGGTCTATAGATTCTGTAGACCTA TTCTATAGGTCTATAGATTCTGTAGACCTATTCTATAGGTCTATAGATTC TGTAGACCTATTCTATAGGTCTATAGAATCTGTAGACCTATTCTATAGGT CTATAGAATCTGTAGACCTATTCTATAGGTCT		MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	8/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP3K13_chr3_185358136_185494094	185453984	T T	TATATATG others(203): Show TATATATGTGATACATATATATGAGATATATATGTGATACATATATATGA GATATATATGTGATGATACATATATATGAGATATATATGTGATGATACAT ATATATGAGATATATATGTGATACATATATATGAGATATATATGTGATAC ATATATATGAGATATATATGATACATATATATGAGATATATATATGATAC ATATATATGAG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	266	0.0038	210	c.127 others(229): Show c.1278+2595_1278+2596insGTGATACATATATATGAGATATATAT GTGATACATATATATGAGATATATATGTGATGATACATATATATGAGATA TATATGTGATGATACATATATATGAGATATATATGTGATACATATATATG AGATATATATGTGATACATATATATGAGATATATATGATACATATATATG AGATATATATATGATACATATATATGAGATATAT		MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
MCF2L_chr13_112964214_113104742	113063464	C C	CGCCCACA others(203): Show CGCCCACAGCGTTCAGGCGTCCCTGTCCACACAGCTGCCCACAGCGTTCA GGCGTCCCTGTCCACACAGCTGCCCACAGCGTTCAGGCGTCCCTGTCCAC ACAGCTGCCCACAGCGTTCAGGCGTCCCTGTCCACACAGCTGCCCACAGC GTTCAGGCGTCCCTGTCCACACAGCCGCCCACAGCGTTCAGGCGTCCCTG TCCACACAGCT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0098 a0001c0001t0029g0098	1	114	0.0088	210	c.490 others(225): Show c.490-787_490-786insTCCCTGTCCACACAGCTGCCCACAGCGTTC AGGCGTCCCTGTCCACACAGCTGCCCACAGCGTTCAGGCGTCCCTGTCCA CACAGCTGCCCACAGCGTTCAGGCGTCCCTGTCCACACAGCCGCCCACAG CGTTCAGGCGTCCCTGTCCACACAGCTGCCCACAGCGTTCAGGCGTCCCT GTCCACACAGCTGCCCACAGCGTTCAGGCG		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	5/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113089233	T T	TTCTCATC others(203): Show TTCTCATCCAGCCCGTCCGGGTTTAACTTAGAAGTGTGTGGCCCCTCAGA AGCAGGAGGGTGGGCGTCTGCTCTCATCCAGTCCGTCCGGGTTTAACTTA GAAGTGTGTGGCCCCTCAGAAGCAGGAGGGTGGGCGTCTGCTCTCATCCA GCCCGTCTGGGTTTAACTTAGAAGTGTGTGGCCCCTCAGAAGCAGGAGGG TGGGCGTCTGC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02602.hp2 HG03098.hp2 HG02486.hp1 HG02602.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0061 a0001c0003t0001g0051 a0001c0001t0001g0004 a0001c0001t0001g0061 a0001c0003t0001g0051	3	113	0.0265	210	c.283 others(227): Show c.2835-313_2835-312insGTCTGCTCTCATCCAGTCCGTCCGGGTT TAACTTAGAAGTGTGTGGCCCCTCAGAAGCAGGAGGGTGGGCGTCTGCTC TCATCCAGCCCGTCTGGGTTTAACTTAGAAGTGTGTGGCCCCTCAGAAGC AGGAGGGTGGGCGTCTGCTCTCATCCAGCCCGTCCGGGTTTAACTTAGAA GTGTGTGGCCCCTCAGAAGCAGGAGGGTGGGC		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	25/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113089390	C C	CGGGTTTA others(203): Show CGGGTTTAACTTAGAAGTGTGTGGCCCCTCAGAAGCAGGAGGGTGGGCGT CTGCTCTCATCCAGCCCGTCTGGGTTTAACTTAGAAGTGTGTGGCCCCTC AGAAGCAGGAGGGTGGGCGTCTGCTCTCATCCAGCCCGTCCGGGTTTAAC TTAGAAGTGTGTGGCCCCTCAGAAGCAGGAGGGTGGGCGTCTGCTCTCAT CCAGTCCGTCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01175.hp2 HG01257.hp2 others(1): Show HG01109.hp1 HG01175.hp2 HG01257.hp2 HG02293.hp1	a0001 a0001	a0001c0004 a0001c0016 a0001c0004 a0001c0016	a0001c0004t0004 a0001c0016t0004 a0001c0004t0004 a0001c0016t0004	a0001c0004t0004g0044 a0001c0004t0004g0084 a0001c0004t0004g0097 others(1): Show a0001c0004t0004g0044 a0001c0004t0004g0084 a0001c0004t0004g0097 a0001c0016t0004g0085	4	70	0.0571	210	c.283 others(227): Show c.2835-157_2835-156insCCCGTCTGGGTTTAACTTAGAAGTGTGT GGCCCCTCAGAAGCAGGAGGGTGGGCGTCTGCTCTCATCCAGCCCGTCCG GGTTTAACTTAGAAGTGTGTGGCCCCTCAGAAGCAGGAGGGTGGGCGTCT GCTCTCATCCAGTCCGTCTGGGTTTAACTTAGAAGTGTGTGGCCCCTCAG AAGCAGGAGGGTGGGCGTCTGCTCTCATCCAG		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	25/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
MCTP2_chr15_94226561_94488952	94243318	T T	TACATACG others(203): Show TACATACGTATGCGTATATGCGTATGTACACACATACGTATGCGTATATG CGTATGTACACACATACGTATGCGTATATGCGTATGTACACACATACGTA TGCGTATATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACA CACATACGTATGCGTATATGCGTATGTACACACATACGTATGCGTATATG CGTATGTACAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp1 HG02717.hp1 others(4): Show HG02109.hp1 HG02615.hp1 HG02717.hp1 HG03453.hp1 HG03491.hp1 HG03492.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0013 a0002c0003	a0001c0001t0032 a0001c0002t0001 a0001c0002t0017 others(3): Show a0001c0001t0032 a0001c0002t0001 a0001c0002t0017 a0001c0006t0009 a0001c0013t0037 a0002c0003t0008	a0001c0001t0032g0081 a0001c0002t0001g0245 a0001c0002t0017g0246 others(4): Show a0001c0001t0032g0081 a0001c0002t0001g0245 a0001c0002t0017g0246 a0001c0006t0009g0088 a0001c0013t0037g0224 a0002c0003t0008g0041 a0002c0003t0008g0042	7	203	0.0345	210	c.-66 others(229): Show c.-66+11683_-66+11684insCACATACGTATGCGTATATGCGTATG TACACACATACGTATGCGTATATGCGTATGTACACACATACGTATGCGTA TATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACACACATA CGTATGCGTATATGCGTATGTACACACATACGTATGCGTATATGCGTATG TACACACATACGTATGCGTATATGCGTATGTACA		MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94243424	T T	TATGCGTA others(203): Show TATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACACACATA CGTATGCGTATATGCGTATGTACACACATACGTATGCGTATATGCGTATG TACACACATACGTATGCGTATATGCGTATGTACACACATACGTATGCGTA TATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACACACATA CGTATGCGTAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0022 a0004c0008t0022	a0004c0008t0022g0053 a0004c0008t0022g0053	1	243	0.0041	210	c.-66 others(229): Show c.-66+11773_-66+11774insCACATACGTATGCGTATATGCGTATG TACACACATACGTATGCGTATATGCGTATGTACACACATACGTATGCGTA TATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACACACATA CGTATGCGTATATGCGTATGTACACACATACGTATGCGTATATGCGTATG TACACACATACGTATGCGTACATGCGTATGTACA		MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr15	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(203): Show ACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAACGCAC AGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCAC CAGACAACGCG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0110 a0002c0002t0001g0110	1	83	0.0120	210	c.377 others(227): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(203): Show ACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAACGCAC AGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG01258.hp2 others(1): Show HG00558.hp2 HG00609.hp2 HG01258.hp2 HG02572.hp1	a0004 a0020 a0046 others(1): Show a0004 a0020 a0046 a0063	a0004c0004 a0020c0041 a0046c0071 others(1): Show a0004c0004 a0020c0041 a0046c0071 a0063c0062	a0004c0004t0002 a0020c0041t0002 a0046c0071t0039 others(1): Show a0004c0004t0002 a0020c0041t0002 a0046c0071t0039 a0063c0062t0011	a0004c0004t0002g0102 a0020c0041t0002g0083 a0046c0071t0039g0061 others(1): Show a0004c0004t0002g0102 a0020c0041t0002g0083 a0046c0071t0039g0061 a0063c0062t0011g0152	4	86	0.0465	210	c.377 others(227): Show c.377-3834_377-3833insCGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MFSD3_chr8_144504070_144516213	144513791	C C	CGTGGGGA others(203): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG01934.hp1 HG01993.hp2 others(4): Show HG00438.hp1 HG01934.hp1 HG01993.hp2 HG02148.hp1 NA18747.hp2 NA18990.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	7	342	0.0205	210	c.26 others(221): Show c.2627_*2628insGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCG		MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding					2579		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(203): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	210	0.0048	210	c.26 others(221): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGA		MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding					2588		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(203): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	210	0.0048	210	c.26 others(221): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGA		MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding					2588		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513834	A A	GAGGGGTC others(203): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01175.hp2 HG00280.hp1 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	200	0.0100	210	c.26 others(220): Show c.2670delAinsGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGT		MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding					2621		chr8	TogoVar
MID2_chrX_107820866_107936637	107910768	T T	TTTTCCTT others(203): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18953.hp1 NA18962.hp1 others(1): Show HG03688.hp1 NA18953.hp1 NA18962.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0075 a0001c0001t0001g0084 others(1): Show a0001c0001t0001g0059 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0091	4	105	0.0381	210	c.107 others(229): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC		MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
MLPH_chr2_237482251_237560322	237544349	T T	TGGGGGGA others(203): Show TGGGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTG AGTGGGGACAGTGGTGAATGGAGGGGACAGTGGTGAGTGGGCACGGTAGT GAGTGGGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGACAGTG GTGAGTGGGTGCACGGTAGTGAGTCGGGGGACAGTGGTGAGTGGGGGAAC AGTGGTGAGTG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0026 a0026	a0026c0051 a0026c0051	a0026c0051t0001 a0026c0051t0001	a0026c0051t0001g0074 a0026c0051t0001g0074	1	228	0.0044	210	c.153 others(229): Show c.1539+1694_1539+1695insGGACAGTGGTGAGTGGGGGGACAGTG GCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAATGGAGGGGACAGT GGTGAGTGGGCACGGTAGTGAGTGGGGGCACAGTGGTGAGTGGGGACAGT GGTGAGTTGGGGGACAGTGGTGAGTGGGTGCACGGTAGTGAGTCGGGGGA CAGTGGTGAGTGGGGGAACAGTGGTGAGTGGGGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MPPED1_chr22_43407014_43512848	43432061	C C	CGGGGCTC others(203): Show CGGGGCTCCCAGAGGGTAGACTGTCGGGTCCCTAGCAGCTCGGGGGGTGG CATTGTGCTCCCTGTCTCTCCCATCTTCATCTCTCTTTGTCTCTTTGACT TAGTCTTTGTCACCTTATGACATCTTCAAAACCTCAGAGGCACACAGAGA GAGAGAGAGAGAGAGAGAGACAAACACAGAGAGAAAGAAAGGGAGGCTCC TCTGCTAGGCG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0204 a0001c0007t0002g0204	1	248	0.0040	210	c.225 others(227): Show c.225-2928_225-2927insGTGGCATTGTGCTCCCTGTCTCTCCCAT CTTCATCTCTCTTTGTCTCTTTGACTTAGTCTTTGTCACCTTATGACATC TTCAAAACCTCAGAGGCACACAGAGAGAGAGAGAGAGAGAGAGAGACAAA CACAGAGAGAAAGAAAGGGAGGCTCCTCTGCTAGGCGGGGGCTCCCAGAG GGTAGACTGTCGGGTCCCTAGCAGCTCGGGGG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MS4A4E_chr11_60195270_60248137	60206512	T T	TGTATATA others(203): Show TGTATATATATATATGTATATATATATGTATATATATGTATATATATATA TGTATATATATATGTATATATATATGTATATATATATGTATATATATATG TATATATATATGTATATATATATGTATATATATATGTATATATATGTGTA TATATATGTATATATATATATGTATATATATGTATATATATATATGTATA TATATATATAC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG04184.hp2 NA18948.hp2 others(12): Show HG03017.hp1 HG04184.hp2 NA18948.hp2 NA18950.hp1 NA18953.hp1 NA18968.hp1 NA18979.hp1 NA18980.hp1 NA18995.hp1 NA18999.hp2 NA19003.hp2 NA19011.hp1 NA19062.hp2 NA19076.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 others(1): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003	a0001c0001t0001g0099 a0002c0003t0001g0004 a0002c0003t0001g0029 others(4): Show a0001c0001t0001g0099 a0002c0003t0001g0004 a0002c0003t0001g0029 a0002c0003t0001g0064 a0002c0003t0001g0091 a0002c0003t0002g0031 a0002c0003t0003g0252	15	73	0.2055	210	c.484 others(225): Show c.484-693_484-692insGTATATATATATATACATATATATATATAC ATATATATACATATATATATATACATATATATACACATATATATACATAT ATATATACATATATATATACATATATATATACATATATATATACATATAT ATATACATATATATATACATATATATATACATATATATATATACATATAT ATACATATATATATACATATATATATATAC		MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8						chr11	TogoVar
MS4A4E_chr11_60195270_60248137	60206512	T T	TGTATATA others(203): Show TGTATATATATATATGTATATATATATGTATATATATGTATATATATATA TGTATATATATATGTATATATATATGTATATATATATGTATATATATATG TGTATATATATGTATATATATATGTATATATATATGTATATATATGTGTA TATATATGTATATATATATATGTATATATATGTATATATATATATGTATA TATATATATAC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18951.hp1 NA18944.hp1 NA18951.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0082 a0002c0003t0001g0087 a0002c0003t0001g0082 a0002c0003t0001g0087	2	60	0.0333	210	c.484 others(225): Show c.484-693_484-692insGTATATATATATATACATATATATATATAC ATATATATACATATATATATATACATATATATACACATATATATACATAT ATATATACATATATATATACATATATATACACATATATATATACATATAT ATATACATATATATATACATATATATATACATATATATATATACATATAT ATACATATATATATACATATATATATATAC		MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8						chr11	TogoVar
MSLN_chr16_755734_773862	769164	G G	GCCCCAGC others(203): Show GCCCCAGCCCCGGCCCCGGCCCCAGCCCCGGCCCCACCCCCGGCCCCAGC CCCAGCCCCAGCCCCAGCCCCAGCCCCACCCCCGGCCCCAGCCCCAGCCC CAGCCCCAGCCCCAGCCCCAGCCCCAGCCCCAGCCCCGGCCCCACCCCCA CCCCCGGCCCCGGCCCCGGCCCCAGCCCCGGCCCCGGCCCCACCCCCGGC CCCGGCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0321 a0002c0002t0002g0321	1	358	0.0028	210	c.43 others(219): Show c.431_*432insCCCCAGCCCCGGCCCCGGCCCCAGCCCCGGCCCCAC CCCCGGCCCCAGCCCCAGCCCCAGCCCCAGCCCCAGCCCCACCCCCGGCC CCAGCCCCAGCCCCAGCCCCAGCCCCAGCCCCAGCCCCAGCCCCAGCCCC GGCCCCACCCCCACCCCCGGCCCCGGCCCCGGCCCCAGCCCCGGCCCCGG CCCCACCCCCGGCCCCGGCCCCAC		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding					303		chr16	TogoVar
MSLN_chr16_755734_773862	769164	G G	GCCCCAGC others(203): Show GCCCCAGCCCCGGCCCCGGCCCCAGCCCCGGCCCCACCCCCGGCCCCAGC CCCAGCCCCAGCCCCAGCCCCAGCCCCAGCCCCACCCCCGGCCCCAGCCC CAGCCCCAGCCCCAGCCCCGGCCCCACCCCCACCCCCGGCCCCGGCCCCG GCCCCAGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGC CCCGGCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0060 a0002c0002t0002g0060	1	358	0.0028	210	c.43 others(219): Show c.431_*432insCCCCAGCCCCGGCCCCGGCCCCAGCCCCGGCCCCAC CCCCGGCCCCAGCCCCAGCCCCAGCCCCAGCCCCAGCCCCAGCCCCACCC CCGGCCCCAGCCCCAGCCCCAGCCCCAGCCCCGGCCCCACCCCCACCCCC GGCCCCGGCCCCGGCCCCAGCCCCGGCCCCGGCCCCACCCCCGGCCCCGG CCCCACCCCCGGCCCCGGCCCCAC		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding					303		chr16	TogoVar
MSLN_chr16_755734_773862	769170	G G	GCCCCGGC others(203): Show GCCCCGGCCCCGGCCCCAGCCCCGGCCCCACCCCCGGCCCCAGCCCCAGC CCCAGCCCCAGCCCCACCCCCGGCCCCAGCCCCGGCCCCAGCCCCAGCCC CGGCCCCACCCCCACCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCG GCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGC CCCGGCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0329 a0002c0002t0002g0329	1	351	0.0028	210	c.43 others(219): Show c.437_*438insCCCCGGCCCCGGCCCCAGCCCCGGCCCCACCCCCGG CCCCAGCCCCAGCCCCAGCCCCAGCCCCACCCCCGGCCCCAGCCCCGGCC CCAGCCCCAGCCCCGGCCCCACCCCCACCCCCGGCCCCGGCCCCGGCCCC GGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGG CCCCACCCCCGGCCCCGGCCCCAC		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding					309		chr16	TogoVar

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