Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LEPR_chr1_65415668_65646559	65590243	T T	TAAAATTA others(313): Show TAAAATTATTCATATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGACGGGCGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTA GCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0027 a0003c0005t0027	a0003c0005t0027g0008 a0003c0005t0027g0008	1	216	0.0046	320	c.495 others(337): Show c.495-2399_495-2398insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAA AAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGT CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTATTCATATT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LHPP_chr10_124456823_124619141	124507458	A A	ATAGGGAG others(313): Show ATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGG TAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGG GAGTATTTCAGGTGGGGAGGG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	260	0.0039	320	c.624 others(337): Show c.624+9337_624+9338insTATTTCAGGTGGGGGGGGTAGGGAGGAT TTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATT TCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATT TCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTT CAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTC AGGTGGGGGGATAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCA GGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGGTAGGGAG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LIMCH1_chr4_41533157_41705044	41596261	T T	TCCACATG others(313): Show TCCACATGTACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02615.hp1 HG02615.hp2 others(4): Show HG01167.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG03041.hp1 HG03540.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0009	a0001c0013 a0003c0003 a0003c0009 others(2): Show a0001c0013 a0003c0003 a0003c0009 a0006c0012 a0009c0010	a0001c0013t0031 a0003c0003t0001 a0003c0003t0006 others(4): Show a0001c0013t0031 a0003c0003t0001 a0003c0003t0006 a0003c0003t0019 a0003c0009t0017 a0006c0012t0020 a0009c0010t0019	a0001c0013t0031g0111 a0003c0003t0001g0076 a0003c0003t0006g0068 others(4): Show a0001c0013t0031g0111 a0003c0003t0001g0076 a0003c0003t0006g0068 a0003c0003t0019g0114 a0003c0009t0017g0074 a0006c0012t0020g0110 a0009c0010t0019g0113	7	154	0.0455	320	c.-24 others(339): Show c.-240-2644_-240-2643insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCCACATGTACTTCTT	LIMCH1	ENSG00000064042.18	transcript	ENST00000503057.6	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr4	TogoVar
LIN7A_chr12_80787520_80942934	80921440	G G	GAGTGCCA others(313): Show GAGTGCCAGCAGATTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTACAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTT AGTAGAGACGGGGTTTCACCGTTTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0283 a0001c0001t0004g0283	1	292	0.0034	320	c.82+ others(337): Show c.82+16200_82+16201insGGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGTA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCTGCTGGCACT	LIN7A	ENSG00000111052.8	transcript	ENST00000552864.6	protein_coding	1/5			chr12	TogoVar
LINGO2_chr9_27932617_29218601	29103296	T T	TAAAGAAT others(313): Show TAAAGAATGCACTTGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01261.hp1 HG00408.hp2 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0047 a0001c0001t0001g0048	2	62	0.0323	320	c.-49 others(343): Show c.-492+109625_-492+109626insTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACAAGTGCATTCTTT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	1/6			chr9	TogoVar
LIPI_chr21_14103813_14215955	14211281	T T	TAAATCAA others(313): Show TAAATCAATAATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGGTAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03225.hp2 HG06807.hp1 others(1): Show HG03130.hp1 HG03225.hp2 HG06807.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0002c0002t0009 a0001c0001t0008 a0002c0002t0009	a0001c0001t0008g0017 a0001c0001t0008g0018 a0001c0001t0008g0019 others(1): Show a0001c0001t0008g0017 a0001c0001t0008g0018 a0001c0001t0008g0019 a0002c0002t0009g0020	4	362	0.0111	320	c.-43 others(329): Show c.-437_-436insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCCTGTTACCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTCATTATTGATTT	LIPI	ENSG00000188992.12	transcript	ENST00000681601.1	protein_coding		327		chr21	TogoVar
LRBA_chr4_150259435_151020284	150372750	G G	GCAGTAAG others(313): Show GCAGTAAGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCCCGCTGTTTAGCCCAGGCCGGATTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTC CTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCAGC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02809.hp1 NA18966.hp1 others(1): Show HG02165.hp2 HG02809.hp1 NA18966.hp1 NA19043.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0014	a0001c0001 a0002c0002 a0004c0006 others(1): Show a0001c0001 a0002c0002 a0004c0006 a0014c0034	a0001c0001t0003 a0002c0002t0008 a0004c0006t0003 others(1): Show a0001c0001t0003 a0002c0002t0008 a0004c0006t0003 a0014c0034t0003	a0001c0001t0003g0056 a0002c0002t0008g0141 a0004c0006t0003g0142 others(1): Show a0001c0001t0003g0056 a0002c0002t0008g0141 a0004c0006t0003g0142 a0014c0034t0003g0164	4	180	0.0222	320	c.719 others(341): Show c.7195-22592_7195-22591insGCTGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAG ATCGAGACCATCTTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAATCCGGCCTGGGCTAAACAGCGGGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTTACTG	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	47/56			chr4	TogoVar
LRP1B_chr2_140226423_142136016	141567782	T T	TAGAATTT others(313): Show TAGAATTTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTG GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCAC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG02630.hp2 HG02145.hp1 HG02486.hp2 HG02630.hp2	a0001 a0001	a0001c0017 a0001c0022 a0001c0024 a0001c0017 a0001c0022 a0001c0024	a0001c0017t0006 a0001c0022t0004 a0001c0024t0005 a0001c0017t0006 a0001c0022t0004 a0001c0024t0005	a0001c0017t0006g0015 a0001c0022t0004g0004 a0001c0024t0005g0009 a0001c0017t0006g0015 a0001c0022t0004g0004 a0001c0024t0005g0009	3	28	0.1071	320	c.206 others(339): Show c.206-87250_206-87249insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGAAATTCT	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	2/90			chr2	TogoVar
LRPPRC_chr2_43881224_44000989	43930219	C C	CAAAACAG others(313): Show CAAAACAGCAGATAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0019 a0004c0004t0019	a0004c0004t0019g0105 a0004c0004t0019g0105	1	358	0.0028	320	c.273 others(339): Show c.2736+3970_2736+3971insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCCCTATCTGCTGTTTT	LRPPRC	ENSG00000138095.20	transcript	ENST00000260665.12	protein_coding	25/37			chr2	TogoVar
LRRK2_chr12_40219997_40374285	40279207	T T	TGCCAATA others(313): Show TGCCAATAGTTTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03491.hp2 HG03654.hp1 HG02698.hp2 HG03491.hp2 HG03654.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0018 a0002c0001t0001 a0002c0001t0018	a0002c0001t0001g0016 a0002c0001t0001g0019 a0002c0001t0018g0018 a0002c0001t0001g0016 a0002c0001t0001g0019 a0002c0001t0018g0018	3	382	0.0079	320	c.224 others(337): Show c.2241+964_2241+965insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCAATAGTTTACTTTTT	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	18/50		INFO_REALIGN_3_PRIME	chr12	TogoVar
LTBP2_chr14_74493183_74617237	74564165	A A	ATATATAT others(313): Show ATATATATATTTATATATATATATTTATATATATATTTATATATATATAT TTATATATATATTTATATATATATATTTATATATATATTTATATATATAT TTATATATATATATTTATATATATATTTTTATATATATATTTATATATAT ATTTTTATATATATATTTATATATATTTATATATATATTTATATATATAT TTATATATATTTATATATATTTATATATATATTTATATATATATTTATAT ATATTTATATATATTTATATATATTTTTATATATATATTTATATATATAT TTATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0131	1	282	0.0036	320	c.831 others(337): Show c.831-8473_831-8472insAATATATATAAATATATATAAATATATA TATAAATATATATATAAAAATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATATAAATATATATAAATATATATAAATATATA TATAAATATATATATAAATATATATAAATATATATATAAAAATATATATA TAAATATATATATAAAAATATATATATAAATATATATATATAAATATATA TATAAATATATATATAAATATATATATATAAATATATATATAAATATATA TATATAAATATATATATAAATATATATATATAAATATATATA	LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35			chr14	TogoVar
LTBP2_chr14_74493183_74617237	74564297	T T	TTATATAT others(313): Show TTATATATAATTTATATATATTATATATATATTTTTATATATATATTTAT ATATATATTTATATATATTATATATATTTATATATATTTATATATATTTA TATATATTTATATATATATTTATATATATATTTATATATATTTATTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATAT TATATATATTTATATATATATTTATATATATATTTATATATATATTTATA TATATATTTATATATATTATTTATATATATATTTATATATATATTTATAT ATATATTTATATATATATTTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0010 a0001c0030t0010	a0001c0030t0010g0127 a0001c0030t0010g0127	1	282	0.0036	320	c.831 others(337): Show c.831-8605_831-8604insTAAATATATATATAAATATATATATAAA TATATATATAAATATATATATAAATAATATATATAAATATATATATAAAT ATATATATAAATATATATATAAATATATATATAAATATATATAATATATA TATAAATATATATATAAATATATATAAATATATATATAAATATATATAAT AAATATATATAAATATATATATAAATATATATATAAATATATATAAATAT ATATAAATATATATAAATATATATAATATATATAAATATATATATAAATA TATATATAAAAATATATATATAATATATATAAATTATATATA	LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35			chr14	TogoVar
LUZP2_chr11_24492053_25087638	24771396	T T	TCTATTCA others(313): Show TCTATTCATGTGATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	116	0.0086	320	c.396 others(337): Show c.396+8105_396+8106insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTATTCATGTGATTTTT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	25087008	T T	TCATGGTA others(313): Show TCATGGTAGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGTCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG02683.hp1 HG03017.hp1 others(1): Show HG01106.hp2 HG02683.hp1 HG03017.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0021 a0001c0001t0003 a0001c0001t0017 a0001c0001t0021	a0001c0001t0003g0031 a0001c0001t0017g0018 a0001c0001t0017g0071 others(1): Show a0001c0001t0003g0031 a0001c0001t0017g0018 a0001c0001t0017g0071 a0001c0001t0021g0093	4	116	0.0345	320	c.83 others(331): Show c.8350_*8351insCATGGTAGACTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCC	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding		4371		chr11	TogoVar
LYPD8_chr1_248734415_248760759	248742220	A A	ATTACGCT others(313): Show ATTACGCTCTGGTGGGGATGTTGGCAGCCGGGGGAGGTTACGCTCTGGTG GGGATGTTGGCAGCGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGTC GGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCCGGGGAGGTTATGCT CTGGTGGGGATGTTGGCAGCCGGGGGAGGTTACGCTCTGGTGGGGATGTT GGCAGCCGGGGGAGGTTACGCTCTGGTGGGGATGTTGGCAGCGGGGGAGA TTATGCTCTGGTGGGGATGTTGGCAGTCGGGGGAGATTATGCTCTGGTGG GGATGTTGGCAGCGGGGGAGG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0087 a0003c0003t0001g0087	1	374	0.0027	320	c.476 others(337): Show c.476-2372_476-2371insCCTCCCCCGCTGCCAACATCCCCACCAG AGCATAATCTCCCCCGACTGCCAACATCCCCACCAGAGCATAATCTCCCC CGCTGCCAACATCCCCACCAGAGCGTAACCTCCCCCGGCTGCCAACATCC CCACCAGAGCGTAACCTCCCCCGGCTGCCAACATCCCCACCAGAGCATAA CCTCCCCGGCTGCCAACATCCCCACCAGAGCATAATCTCCCCCGACTGCC AACATCCCCACCAGAGCATAATCTCCCCCGCTGCCAACATCCCCACCAGA GCGTAACCTCCCCCGGCTGCCAACATCCCCACCAGAGCGTAA	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
MAEA_chr4_1284891_1345137	1308028	G G	GAAAAACT others(313): Show GAAAAACTCTCAGAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01099.hp2 HG01106.hp1 others(22): Show HG00423.hp1 HG01099.hp2 HG01106.hp1 HG01169.hp1 HG01257.hp2 HG01952.hp1 HG02004.hp2 HG02074.hp1 HG02257.hp1 HG02615.hp1 HG02738.hp1 HG02895.hp2 HG03654.hp2 HG03669.hp2 HG03834.hp1 HG04199.hp1 HG04199.hp2 NA18940.hp1 NA18966.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA19000.hp1 NA19056.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0016 a0001c0001 a0001c0002 a0001c0016	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0016t0001	a0001c0001t0001g0306 a0001c0001t0001g0311 a0001c0001t0001g0324 others(22): Show a0001c0001t0001g0306 a0001c0001t0001g0311 a0001c0001t0001g0324 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0372 a0001c0001t0001g0376 a0001c0001t0001g0381 a0001c0001t0001g0382 a0001c0001t0002g0365 a0001c0001t0002g0366 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0317 a0001c0002t0001g0357 a0001c0002t0001g0371 a0001c0016t0001g0330	25	388	0.0644	320	c.70- others(335): Show c.70-3934_70-3933insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAACTCTCAGAAATG	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAGI2_chr7_78012055_79458667	79032863	T T	TTCCAGAG others(313): Show TTCCAGAGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGACCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18906.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0025 a0001c0002t0001g0008 a0001c0002t0001g0025	2	40	0.0500	320	c.302 others(339): Show c.302-25658_302-25657insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGGTCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCTCTGGA	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MALRD1_chr10_19043801_19739478	19238064	C C	CATATAAT others(313): Show CATATAATTATCTGTAATTTTATATAGTTATATATAATTATCTGTAATTT TATATAGTTATATATAATTATATGTAATTTTATATGGTTATATATAATTA TACGTAATTTTACATAGTTATATATAGTTATAACTATATGTAGTTATATA TAATTATATATAATTATATATAATTTATATACTTATAAATATGTAATTAT ATATGTTATAATTATAAATATATATAATATAAATATACAATACATTTTAT ATAATATATAATATATAGTATAATACAAAATATACATTATAATATATTAT AATATATAATATATAATACAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01070.hp2 HG01081.hp2 others(22): Show HG00544.hp1 HG01070.hp2 HG01081.hp2 HG01109.hp1 HG01168.hp2 HG01192.hp1 HG01358.hp2 HG01993.hp1 HG02109.hp1 HG02132.hp2 HG02602.hp2 HG03041.hp1 HG03209.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03704.hp2 HG04228.hp1 NA18957.hp2 NA18960.hp1 NA18988.hp2 NA18998.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp2	a0001 a0003 a0008 others(16): Show a0001 a0003 a0008 a0012 a0028 a0038 a0043 a0085 a0086 a0087 a0088 a0089 a0090 a0091 a0092 a0094 a0095 a0096 a0097	a0001c0001 a0003c0002 a0008c0006 others(17): Show a0001c0001 a0003c0002 a0008c0006 a0012c0041 a0028c0097 a0028c0098 a0038c0042 a0043c0091 a0085c0048 a0086c0103 a0087c0105 a0088c0107 a0089c0106 a0090c0034 a0091c0104 a0092c0096 a0094c0100 a0095c0033 a0096c0101 a0097c0102	a0001c0001t0001 a0003c0002t0001 a0008c0006t0001 others(17): Show a0001c0001t0001 a0003c0002t0001 a0008c0006t0001 a0012c0041t0004 a0028c0097t0001 a0028c0098t0001 a0038c0042t0001 a0043c0091t0002 a0085c0048t0002 a0086c0103t0001 a0087c0105t0001 a0088c0107t0002 a0089c0106t0001 a0090c0034t0003 a0091c0104t0001 a0092c0096t0001 a0094c0100t0001 a0095c0033t0001 a0096c0101t0001 a0097c0102t0001	a0001c0001t0001g0054 a0003c0002t0001g0029 a0003c0002t0001g0030 others(22): Show a0001c0001t0001g0054 a0003c0002t0001g0029 a0003c0002t0001g0030 a0003c0002t0001g0046 a0003c0002t0001g0049 a0003c0002t0001g0119 a0008c0006t0001g0050 a0008c0006t0001g0051 a0012c0041t0004g0063 a0028c0097t0001g0104 a0028c0098t0001g0040 a0038c0042t0001g0023 a0043c0091t0002g0064 a0085c0048t0002g0087 a0086c0103t0001g0007 a0087c0105t0001g0047 a0088c0107t0002g0020 a0089c0106t0001g0042 a0090c0034t0003g0112 a0091c0104t0001g0016 a0092c0096t0001g0004 a0094c0100t0001g0143 a0095c0033t0001g0103 a0096c0101t0001g0113 a0097c0102t0001g0098	25	152	0.1645	320	c.299 others(341): Show c.2992-19616_2992-19615insAATTATCTGTAATTTTATATAGTT ATATATAATTATCTGTAATTTTATATAGTTATATATAATTATATGTAATT TTATATGGTTATATATAATTATACGTAATTTTACATAGTTATATATAGTT ATAACTATATGTAGTTATATATAATTATATATAATTATATATAATTTATA TACTTATAAATATGTAATTATATATGTTATAATTATAAATATATATAATA TAAATATACAATACATTTTATATAATATATAATATATAGTATAATACAAA ATATACATTATAATATATTATAATATATAATATATAATACATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19261791	T T	TGCCTTGT others(313): Show TGCCTTGTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02109.hp1 HG03209.hp2 others(2): Show HG01081.hp2 HG02109.hp1 HG03209.hp2 HG03491.hp2 HG03492.hp2	a0008 a0012 a0038 others(1): Show a0008 a0012 a0038 a0043	a0008c0006 a0012c0041 a0038c0042 others(1): Show a0008c0006 a0012c0041 a0038c0042 a0043c0091	a0008c0006t0001 a0012c0041t0004 a0038c0042t0001 others(1): Show a0008c0006t0001 a0012c0041t0004 a0038c0042t0001 a0043c0091t0002	a0008c0006t0001g0050 a0008c0006t0001g0051 a0012c0041t0004g0063 others(2): Show a0008c0006t0001g0050 a0008c0006t0001g0051 a0012c0041t0004g0063 a0038c0042t0001g0023 a0043c0091t0002g0064	5	152	0.0329	320	c.307 others(339): Show c.3079+4033_3079+4034insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCGCCTTGTAATTTT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	19/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAP1B_chr5_72102475_72214565	72135708	T T	TGAAAAAG others(313): Show TGAAAAAGGATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CCGGGCATGGTGGCGCGTGCCTATAGTCCCAGCTACACGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02895.hp1 HG02486.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0039 a0001c0001 a0001c0039	a0001c0001t0012 a0001c0039t0018 a0001c0001t0012 a0001c0039t0018	a0001c0001t0012g0053 a0001c0039t0018g0013 a0001c0001t0012g0053 a0001c0039t0018g0013	2	342	0.0059	320	c.286 others(339): Show c.286+19921_286+19922insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAATTAGCCGGGCATGGTGGCGCGTGCCTATAGTCCCAGCTACACG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGGATGA	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(313): Show TAAAAGCTTTACTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAA AAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0052 a0002c0002t0052	a0002c0002t0052g0150 a0002c0002t0052g0150	1	372	0.0027	320	c.68 others(329): Show c.687_*688insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAGCTTTACTGA	MAP3K21	ENSG00000143674.11	transcript	ENST00000366624.8	protein_coding	10/10	688	INFO_REALIGN_3_PRIME	chr1	TogoVar
MARCHF1_chr4_163519718_164389019	163894908	T T	TATATATA others(313): Show TATATATATATGCATGTGATGCATATATATATATGCATGTGATGCATATA TATATATGCATGTGATGCATATATATATATGCATGTGATGCATATATATA TATGCATGTGATGCATATATATATATGCATGTGATGCATATATATATGCA TGTGATGCATATATATATGCATGTGATGCATATATATATATGCATGTGAT GCATATATATATATGCATGTGATGCATATATATATATATGCATGTGATGC ATATATATATATATGCATGTGATGCATATATATATATGCATGTGATGCAT ATATATATATGCATGTGATGC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0080 a0001c0002t0002g0080	1	102	0.0098	320	c.-38 others(339): Show c.-38-40740_-38-40739insGCATCACATGCATATATATATATGCA TCACATGCATATATATATATGCATCACATGCATATATATATATATGCATC ACATGCATATATATATATATGCATCACATGCATATATATATATGCATCAC ATGCATATATATATATGCATCACATGCATATATATATGCATCACATGCAT ATATATATGCATCACATGCATATATATATATGCATCACATGCATATATAT ATATGCATCACATGCATATATATATATGCATCACATGCATATATATATAT GCATCACATGCATATATATATATGCATCACATGCATATATATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164222446	T T	TAAAATAA others(313): Show TAAAATAATTTTGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0098 a0001c0001t0006g0098	1	102	0.0098	320	c.-32 others(343): Show c.-322-110785_-322-110784insTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTACAAAATTATTTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MBNL3_chrX_132364320_132494038	132396500	C C	CTATATAT others(313): Show CTATATATATTCCTATATATTCCTATATATATTCCTATATATATTCCTAT ATATATTCCTATATATATTCATATATATTCACATATATATATTCACATAT ATATTCACATATATAGATTCATATATATATATTCATATATAGATTCATAT ATATATATTCATATATAGATTCATATATAGATTCATATATAGATTCATAT ATATTCATATATAGATTCATATATATTCATATATAGATTCATATATATAT TCATATATAGATTCATATATATTCATATATATATTCATATATATATTCAT ATATATTCATATATATATTCA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02922.hp2 HG03540.hp1 HG02717.hp1 HG02922.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0180 a0001c0001t0007g0182 a0001c0001t0007g0183 a0001c0001t0007g0180 a0001c0001t0007g0182 a0001c0001t0007g0183	3	191	0.0157	320	c.343 others(337): Show c.343-4167_343-4166insTGAATATATATATGAATATATATGAATA TATATATGAATATATATATGAATATATATGAATCTATATATGAATATATA TATGAATCTATATATGAATATATATGAATCTATATATGAATATATATGAA TCTATATATGAATCTATATATGAATCTATATATGAATATATATATATGAA TCTATATATGAATATATATATATGAATCTATATATGTGAATATATATGTG AATATATATATGTGAATATATATGAATATATATAGGAATATATATAGGAA TATATATAGGAATATATATAGGAATATATAGGAATATATATA	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MCTP2_chr15_94226561_94488952	94276661	T T	TAAGAAAT others(313): Show TAAGAAATATTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02717.hp2 HG02818.hp1 others(2): Show HG02055.hp2 HG02717.hp2 HG02818.hp1 HG03540.hp1 NA19030.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0006 a0005c0014 others(1): Show a0001c0001 a0001c0006 a0005c0014 a0006c0011	a0001c0001t0001 a0001c0006t0009 a0005c0014t0035 others(2): Show a0001c0001t0001 a0001c0006t0009 a0005c0014t0035 a0006c0011t0011 a0006c0011t0014	a0001c0001t0001g0097 a0001c0006t0009g0088 a0005c0014t0035g0122 others(2): Show a0001c0001t0001g0097 a0001c0006t0009g0088 a0005c0014t0035g0122 a0006c0011t0011g0274 a0006c0011t0014g0233	5	276	0.0181	320	c.-65 others(339): Show c.-65-21527_-65-21526insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATATTTGG	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MDGA2_chr14_46835092_47680605	46966755	T T	TAGCATTT others(313): Show TAGCATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02738.hp1 NA18994.hp2 HG01978.hp1 HG02738.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0008g0010 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0008g0010	3	120	0.0250	320	c.182 others(339): Show c.1820-9113_1820-9112insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATGCT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	8/16			chr14	TogoVar
MEAK7_chr16_84471355_84509659	84477576	A A	ACAAATTT others(313): Show ACAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0108 a0003c0004t0108	a0003c0004t0108g0338 a0003c0004t0108g0338	1	468	0.0021	320	c.23 others(331): Show c.2336_*2337insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTG	MEAK7	ENSG00000140950.16	transcript	ENST00000343629.11	protein_coding	8/8	2336		chr16	TogoVar
MEI4_chr6_77648039_77932045	77654537	T T	TAAAAAAT others(313): Show TAAAAAATTGAAAACAATGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAG TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0028 a0001c0001t0011g0028	1	360	0.0028	320	c.-15 others(337): Show c.-15+1462_-15+1463insGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCGT AGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACT GCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTGAAAACAAT	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MEIS1_chr2_66430125_66578869	66431845	T T	TAGAAAAC others(313): Show TAGAAAACAAAAGAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTTCTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	246	0.0041	320	c.-40 others(331): Show c.-4012_-4011insAGAAAACAAAAGAAGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCT TCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCC TGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	MEIS1	ENSG00000143995.20	transcript	ENST00000272369.14	protein_coding		3279		chr2	TogoVar
MELK_chr9_36567895_36682682	36645304	T T	TGAAAAAG others(313): Show TGAAAAAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGA GTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18980.hp2 NA18983.hp1 others(1): Show HG03831.hp2 NA18980.hp2 NA18983.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0134 a0001c0002t0002g0177 a0001c0002t0002g0201 others(1): Show a0001c0002t0002g0134 a0001c0002t0002g0177 a0001c0002t0002g0201 a0001c0002t0002g0203	4	242	0.0165	320	c.921 others(337): Show c.921+2233_921+2234insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACAGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTC GGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCGAAAAAGTCTTT	MELK	ENSG00000165304.8	transcript	ENST00000298048.7	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
MGAT5_chr2_134249072_134459621	134426712	T T	TAAAAGAA others(313): Show TAAAAGAAAAGAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGGATGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0204 a0001c0001t0079g0204	1	282	0.0036	320	c.179 others(339): Show c.1795-1638_1795-1637insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGGATGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAA	MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MIA3_chr1_222613097_222673007	222645833	T T	TGTGTTGG others(313): Show TGTGTTGGTAAATTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0135 a0002c0001t0002g0135	1	370	0.0027	320	c.360 others(337): Show c.3609+164_3609+165insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCGTGTTGGTAAATTCTT	MIA3	ENSG00000154305.18	transcript	ENST00000344922.10	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
MIDEAS_chr14_73710122_73765303	73719828	G G	GCTCATGC others(313): Show GCTCATGCCCTGTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03579.hp2 NA19043.hp1 HG02886.hp2 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0030 a0001c0001 a0001c0030	a0001c0001t0045 a0001c0001t0087 a0001c0030t0088 a0001c0001t0045 a0001c0001t0087 a0001c0030t0088	a0001c0001t0045g0197 a0001c0001t0087g0308 a0001c0030t0088g0209 a0001c0001t0045g0197 a0001c0001t0087g0308 a0001c0030t0088g0209	3	352	0.0085	320	c.293 others(337): Show c.2938-328_2938-327insTGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACAGGGCATGAG	MIDEAS	ENSG00000156030.14	transcript	ENST00000423556.7	protein_coding	11/12			chr14	TogoVar
MIPEP_chr13_23725189_23894400	23802688	A A	AAAGATTT others(313): Show AAAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0035 a0003c0003t0001g0035	1	306	0.0033	320	c.184 others(339): Show c.1848+3261_1848+3262insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCTT	MIPEP	ENSG00000027001.10	transcript	ENST00000382172.4	protein_coding	16/18			chr13	TogoVar
MLIP_chr6_54106443_54271280	54269524	T T	TGGAAGGT others(313): Show TGGAAGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	248	0.0040	320	c.35 others(331): Show c.3569_*3570insGGAAGGTCTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCC GCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC	MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding		3245		chr6	TogoVar
MNS1_chr15_56423724_56470137	56449313	T T	TGCTACAC others(313): Show TGCTACACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG02486.hp1 others(22): Show HG00280.hp2 HG00438.hp2 HG02486.hp1 HG02523.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03041.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03669.hp1 HG06807.hp2 NA18943.hp1 NA18953.hp1 NA18969.hp1 NA19056.hp1 NA19067.hp1 NA19068.hp2 NA19085.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0001c0001t0001 a0001c0005t0001 a0002c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0039 a0001c0001t0001g0061 others(21): Show a0001c0001t0001g0010 a0001c0001t0001g0039 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0005t0001g0063 a0001c0005t0001g0064 a0001c0005t0001g0065 a0001c0005t0001g0085 a0001c0005t0001g0086 a0001c0005t0001g0087 a0001c0005t0001g0088 a0002c0002t0001g0042	25	414	0.0604	320	c.354 others(337): Show c.354-2371_354-2370insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTGTAGC	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	3/9			chr15	TogoVar
MOCOS_chr18_36182497_36277157	36188757	T T	TGAGAACT others(313): Show TGAGAACTGTGGCCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG04204.hp1 NA18946.hp2 others(2): Show HG03669.hp1 HG04204.hp1 NA18946.hp2 NA18986.hp1 NA20300.hp1	a0003 a0007 a0003 a0007	a0003c0003 a0007c0007 a0003c0003 a0007c0007	a0003c0003t0003 a0007c0007t0001 a0007c0007t0017 a0003c0003t0003 a0007c0007t0001 a0007c0007t0017	a0003c0003t0003g0353 a0007c0007t0001g0351 a0007c0007t0001g0352 others(2): Show a0003c0003t0003g0353 a0007c0007t0001g0351 a0007c0007t0001g0352 a0007c0007t0017g0354 a0007c0007t0017g0355	5	358	0.0140	320	c.142 others(337): Show c.142+1091_142+1092insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAGAGAACTGTGGCCTC	MOCOS	ENSG00000075643.6	transcript	ENST00000261326.6	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr18	TogoVar
MORC3_chr21_36315197_36381632	36322283	T T	TAAGAGAT others(313): Show TAAGAGATAAAAATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02300.hp2 HG02602.hp1 others(1): Show HG01943.hp1 HG02300.hp2 HG02602.hp1 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0002 a0001c0005t0003g0013 a0001c0005t0003g0019 a0001c0005t0003g0002 a0001c0005t0003g0013 a0001c0005t0003g0019	4	308	0.0130	320	c.39+ others(335): Show c.39+1995_39+1996insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAGAGATAAAAATTA	MORC3	ENSG00000159256.13	transcript	ENST00000400485.6	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr21	TogoVar
MROH7_chr1_54636786_54715266	54698798	T T	TTTTTTTT others(313): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02080.hp1 NA18965.hp2 others(7): Show HG02040.hp2 HG02080.hp1 NA18965.hp2 NA18971.hp2 NA18983.hp2 NA18986.hp2 NA18992.hp1 NA18995.hp2 NA19011.hp2 NA19079.hp2	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0006 a0011	a0001c0005 a0003c0032 a0005c0039 others(2): Show a0001c0005 a0003c0032 a0005c0039 a0006c0013 a0011c0077	a0001c0005t0001 a0003c0032t0001 a0005c0039t0003 others(2): Show a0001c0005t0001 a0003c0032t0001 a0005c0039t0003 a0006c0013t0001 a0011c0077t0001	a0001c0005t0001g0243 a0001c0005t0001g0253 a0001c0005t0001g0255 others(7): Show a0001c0005t0001g0243 a0001c0005t0001g0253 a0001c0005t0001g0255 a0003c0032t0001g0309 a0005c0039t0003g0196 a0005c0039t0003g0209 a0006c0013t0001g0315 a0006c0013t0001g0333 a0006c0013t0001g0335 a0011c0077t0001g0189	10	380	0.0263	320	c.296 others(339): Show c.2965-1510_2965-1509insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCTCTTTTTTTTTTTTT	MROH7	ENSG00000184313.20	transcript	ENST00000421030.7	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPL21_chr11_68886278_68908832	68892612	G G	GGTGGAGG others(313): Show GGTGGAGGAGAAGGGGAGCGAGGTGGGGTCACGCGCGGAGGGTGGAGGAG AAGTGGAGCGAGGTGGGGTCACGCGCGGAGCGTGGAGGAGAAGGGGAGCG AGGTGGGGTCACGCGCGGAGGGTGGAGGAGAAGGGGAGCGAGGTGGGGTC ACGCGCGGAGGGTGGAGGAGAAGGGGAGCGAGGTGGGGTCACGCGCGGAG GGTGGAGGAGAAGGGGAGCGAGGTGGGGTCACGCGCGGAGGGTGGAGGAG AAGGGGAGCGAGGTGGGGTCACGCGCGGAGGGTGGAGGAGAAGGGGAGCG AGGTGGGGTCACGCGCGGAGC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0099 a0002c0002t0002g0099	1	395	0.0025	320	c.553 others(335): Show c.553+277_553+278insGCTCCGCGCGTGACCCCACCTCGCTCCCCT TCTCCTCCACCCTCCGCGCGTGACCCCACCTCGCTCCCCTTCTCCTCCAC CCTCCGCGCGTGACCCCACCTCGCTCCCCTTCTCCTCCACCCTCCGCGCG TGACCCCACCTCGCTCCCCTTCTCCTCCACCCTCCGCGCGTGACCCCACC TCGCTCCCCTTCTCCTCCACCCTCCGCGCGTGACCCCACCTCGCTCCCCT TCTCCTCCACGCTCCGCGCGTGACCCCACCTCGCTCCACTTCTCCTCCAC CCTCCGCGCGTGACCCCACCTCGCTCCCCTTCTCCTCCAC	MRPL21	ENSG00000197345.13	transcript	ENST00000362034.7	protein_coding	6/6			chr11	TogoVar
MRPL3_chr3_131457212_131507971	131482744	T T	TTCAAATT others(313): Show TTCAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGCGTAGCT GGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTGTGTTT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02615.hp2 NA20300.hp2 HG01981.hp2 HG02615.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0069	3	390	0.0077	320	c.629 others(337): Show c.629+4935_629+4936insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAACACA AAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACG CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTGA	MRPL3	ENSG00000114686.9	transcript	ENST00000264995.8	protein_coding	6/9			chr3	TogoVar
MRPS35_chr12_27705832_27761295	27711862	A A	AATAATTG others(313): Show AATAATTGTCTATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp2 NA19088.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0299 a0001c0001t0001g0300	2	358	0.0056	320	c.112 others(335): Show c.112+923_112+924insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCATAATTGTCTATTTTT	MRPS35	ENSG00000061794.13	transcript	ENST00000081029.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
MSH3_chr5_80649652_80881815	80693360	G G	GATAAATA others(313): Show GATAAATATACATGCACATGTATATGTTTATATAGATAAATATACATGCA CATGTATGTGTTTATATAAATATGCACATGTATATGTTTAGATAAATATA CATGCACATGTATGTGTTTAGATAAATATACATGCACATGTATGTGTTTA GATAAATATACATGCACATGTATATGTTTATATAGATAAATATACATGCA CATGTATATGTTTATATAGATAAATATACATGCACATGTATGTTTATATA GATAAATATACATGCACATGTATGTTTATATAGATAAATATACATGCACA TGTATATGTTTATATAGATAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0039 a0039	a0039c0045 a0039c0045	a0039c0045t0005 a0039c0045t0005	a0039c0045t0005g0028 a0039c0045t0005g0028	1	362	0.0028	320	c.134 others(341): Show c.1340+14270_1340+14271insAATATACATGCACATGTATATGTT TATATAGATAAATATACATGCACATGTATGTGTTTATATAAATATGCACA TGTATATGTTTAGATAAATATACATGCACATGTATGTGTTTAGATAAATA TACATGCACATGTATGTGTTTAGATAAATATACATGCACATGTATATGTT TATATAGATAAATATACATGCACATGTATATGTTTATATAGATAAATATA CATGCACATGTATGTTTATATAGATAAATATACATGCACATGTATGTTTA TATAGATAAATATACATGCACATGTATATGTTTATATAGATAAATA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSI2_chr17_57251523_57689689	57390366	T T	TAAAAATA others(313): Show TAAAAATACTGATGCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0075 a0001c0001t0031g0075	1	168	0.0060	320	c.313 others(339): Show c.313-10994_313-10993insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAATACTGATGCCCAGG	MSI2	ENSG00000153944.12	transcript	ENST00000284073.7	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSLN_chr16_755734_773862	767711	G G	GGTGTGGA others(313): Show GGTGTGGAGGGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGCGTGGAGGAG GGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGG GTGTGTGGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGGGTGCGTGG AGGAGGGGCGCGTGGAGGGAGGGGGCGCGTGGAGGAGGGGCGCGTGGAGG GGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGG GGGTGTGTGGAGGGGGGCGCGTGGGGGGGGGCGCATGGGGGGGCGTGGAG GGGGGTGCGTGGAGGAGGGGC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	388	0.0026	320	c.159 others(337): Show c.1596+242_1596+243insTGTGGAGGGGGGCGTGTGGAGGGGGGCG CGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGT GTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGGCACGTGGAGGGGGGC GTGTGGGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGGAGGGGGCGCGT GGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGC GCGTGGAGGGGGGCGCGTGGGGGTGTGTGGAGGGGGGCGCGTGGGGGGGG GCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTARC2_chr1_220743322_220789815	220781003	A A	AAGGATTT others(313): Show AAGGATTTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	398	0.0025	320	c.885 others(335): Show c.885-761_885-760insTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCAGGATTTCTCTTTT	MTARC2	ENSG00000117791.16	transcript	ENST00000366913.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MTCL1_chr18_8700556_8837778	8718962	T T	TTTTTTTT others(313): Show TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACC GCGCCCGGCCATATTTTTTTA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0120 a0003c0120	a0003c0120t0001 a0003c0120t0001	a0003c0120t0001g0038 a0003c0120t0001g0038	1	336	0.0030	320	c.127 others(337): Show c.1278+314_1278+315insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGGGCCACCGCGCCCGGCCATATTTTTTTA	MTCL1	ENSG00000168502.18	transcript	ENST00000695636.1	protein_coding	2/14			chr18	TogoVar
MTNR1A_chr4_186528655_186560567	186546886	G G	GTGGGACA others(313): Show GTGGGACACACCGTCCACACCACACCCTGTTCGTGGGACACACCGTCCAC ACCACACCCTGTTCGTGGGACACACCGTCCACACCACACCCTGTTCGTGG GACACACCGTCCACACCACACCCTGTTCGTGGGACACACCGTCCACACCA CACCCTGTTCGTGGGACACACCGTCCACACCACACCCTGTTCCTGGGACA CACCGTCCACACCACACCCTGTTCCTGGGACACACCGTCCACACCACACC CTGTTCCTGGGACACACCGTCCACACCACACCCTGTTCCTGGGACACACC GTCCACACCACACCCTGTTCC	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18955.hp2 HG04115.hp1 NA18955.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0015 a0001c0001 a0010c0015	a0001c0001t0001 a0010c0015t0001 a0001c0001t0001 a0010c0015t0001	a0001c0001t0001g0207 a0010c0015t0001g0189 a0001c0001t0001g0207 a0010c0015t0001g0189	2	396	0.0051	320	c.184 others(337): Show c.184+8295_184+8296insGGAACAGGGTGTGGTGTGGACGGTGTGT CCCAGGAACAGGGTGTGGTGTGGACGGTGTGTCCCAGGAACAGGGTGTGG TGTGGACGGTGTGTCCCAGGAACAGGGTGTGGTGTGGACGGTGTGTCCCA GGAACAGGGTGTGGTGTGGACGGTGTGTCCCACGAACAGGGTGTGGTGTG GACGGTGTGTCCCACGAACAGGGTGTGGTGTGGACGGTGTGTCCCACGAA CAGGGTGTGGTGTGGACGGTGTGTCCCACGAACAGGGTGTGGTGTGGACG GTGTGTCCCACGAACAGGGTGTGGTGTGGACGGTGTGTCCCA	MTNR1A	ENSG00000168412.7	transcript	ENST00000307161.5	protein_coding	1/1			chr4	TogoVar
MUC4_chr3_195741771_195816929	195771146	C C	CGGGTTGG others(313): Show CGGGTTGGGGTATTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCCTG GTCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCAGTCTCGTGGTTGGG TTGGGGTATTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCA GTCTCGTGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGTGGTTGGGTTGG GGTATTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCAGTCT CGTGGTTGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTA TTCCTGGTCAGTCTCGTGGTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03540.hp2 HG01884.hp2 HG03540.hp2	a0082 a0083 a0082 a0083	a0082c0191 a0083c0190 a0082c0191 a0083c0190	a0082c0191t0005 a0083c0190t0004 a0082c0191t0005 a0083c0190t0004	a0082c0191t0005g0244 a0083c0190t0004g0241 a0082c0191t0005g0244 a0083c0190t0004g0241	2	249	0.0080	320	c.132 others(339): Show c.13242+505_13242+506insAACCACGAGACTGACCAGGAATACCC CAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCAACCACGAGACT GACCAGGAATACCCCAACCCAACCACGAGACTGACCAGGAATACCCCAAC CCAACCACGAGACTGACCAGGAATACCCCAACCCGGCCACGAGACTGACC AGGAATACCCCAACCCAACCACGAGACTGACCAGGAATACCCCAACCCAA CCACGAGACTGACCAGGAATACCCCAACCCAACCACGAGACTGACCAGGA ATACCCCAACCCAACCACGAGACTGACCAGGAATACCCCAACCC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	5/24			chr3	TogoVar
MXI1_chr10_110202605_110292365	110251010	T T	TTTTTTTT others(313): Show TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGC TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG TCCACCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCGACTAAGTATTTGTTAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0341 a0001c0001t0016g0341	1	372	0.0027	320	c.437 others(337): Show c.437+6153_437+6154insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGTCCACCACCTCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGACTAAGTATTTGTTAAA	MXI1	ENSG00000119950.21	transcript	ENST00000332674.9	protein_coding	3/5			chr10	TogoVar

Search by Variant

Search

Search Results