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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KIAA1549L_chr11_33371108_33679102	33653938	G G	GCTGGATC others(306): Show GCTGGATCATTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG02572.hp2 others(2): Show HG01884.hp2 HG02280.hp1 HG02572.hp2 NA19030.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0062 a0001c0063 a0001c0091 others(1): Show a0001c0062 a0001c0063 a0001c0091 a0003c0032	a0001c0062t0016 a0001c0063t0016 a0001c0091t0016 others(2): Show a0001c0062t0016 a0001c0063t0016 a0001c0091t0016 a0003c0032t0034 a0003c0032t0077	a0001c0062t0016g0057 a0001c0063t0016g0018 a0001c0091t0016g0010 others(2): Show a0001c0062t0016g0057 a0001c0063t0016g0018 a0001c0091t0016g0010 a0003c0032t0034g0141 a0003c0032t0077g0065	5	226	0.0221	313	c.576 others(332): Show c.5761-2061_5761-2060insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTGGATCATTTCT	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(306): Show CGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGC TGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAAC GGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAAC GGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAAC GGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAA CGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGGTGGGGGCG GGAACGGCGCTGCG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0233 a0001c0003t0026g0233	1	375	0.0027	313	c.317 others(330): Show c.317+1438_317+1439insGGCGGGAACGGCGCTGCGGGGCGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGCG GGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGG GGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGG GGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGC GGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGC GGGGGTGGGGGCGGGAACGGCGCTGCGGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF2A_chr5_62301206_62396025	62339523	T T	TCTGTATT others(306): Show TCTGTATTTCCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0285 a0001c0001t0005g0285	1	370	0.0027	313	c.65- others(328): Show c.65-7598_65-7597insCTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTGTATTTC	KIF2A	ENSG00000068796.19	transcript	ENST00000407818.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr5	TogoVar
KREMEN1_chr22_29068035_29151820	29120078	A A	AGGAAACA others(306): Show AGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGA GGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGA GGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAG GGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAA GGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGT GATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAG GGAGAGGTGATGAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18977.hp1 NA18944.hp2 NA18977.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0220 a0002c0003t0003g0221 a0002c0003t0003g0220 a0002c0003t0003g0221	2	368	0.0054	313	c.353 others(330): Show c.353-1274_353-1273insCAGGGAGGAGGGAGAGGTGATGAAGGAA ACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATG AAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAG GTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGG AGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACA GGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGA AGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
KREMEN1_chr22_29068035_29151820	29120084	T T	TGGAGGAA others(306): Show TGGAGGAAGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGA AGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGG TGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGA GGGAGAGGTGATGATGGAAATGGAGGAAGGAGAGGTGATGAAGGAAACAG GGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAT GGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGT GATGATGGAAACAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03195.hp2 HG02622.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0067 a0001c0002t0004g0068 a0001c0002t0004g0067 a0001c0002t0004g0068	2	368	0.0054	313	c.353 others(330): Show c.353-1267_353-1266insAGGAGAGGTGATGAAGGAAACAGGGAGG AGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACA GGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGA AGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAATGGAGGAAGGAGAGG TGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGA GGGAGAGGTGATGATGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAG GGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
KRT75_chr12_52419070_52439371	52419896	A A	AAGTTGTC others(306): Show AAGTTGTCATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTG TCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCG CCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01261.hp1 HG02027.hp1 others(2): Show HG00597.hp1 HG01261.hp1 HG02027.hp1 HG04115.hp2 NA19091.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0003 a0003c0003t0003g0005 a0003c0003t0003g0003 a0003c0003t0003g0005	5	416	0.0120	313	c.46 others(324): Show c.4620_*4621insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAATGACAACT	KRT75	ENSG00000170454.6	transcript	ENST00000252245.6	protein_coding		4173		chr12	TogoVar
KRT81_chr12_52280913_52296534	52291701	T T	TAAAAGAT others(306): Show TAAAAGATGTCAGTCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0004 a0003c0004t0001g0004	1	454	0.0022	313	c.-23 others(322): Show c.-237_-236insTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTC GCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCC CCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCAAGACTGACATCTTTT	KRT81	ENSG00000205426.11	transcript	ENST00000327741.9	protein_coding		168		chr12	TogoVar
LHFPL3_chr7_104323603_104913561	104412152	A A	AGTATTTA others(306): Show AGTATTTAGTATACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	86	0.0116	313	c.445 others(332): Show c.445+82945_445+82946insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCGTATTTAGTATACTTTT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LMLN_chr3_197955217_198048720	198040574	C C	CCTCCTAT others(306): Show CCTCCTATTCCTCCATGGCATTGTAACCACAACCCTCGGACAGACTCCTC CTACTCCTCCATGGCATTGTAACCACAACCCTCGGACAGACTCCTCCTAC TCCTCCATGGCATTGTAACCACAACCCTCGGACAGACTCCTCCTATTCCT CCATGGCATTGTAACCACAACCCTCGGACAGACTCCTATTCCTCCATGGC ATTGTAACCACAACCCTCGGACAGACTCCTCCTACTCCTCCATGGCATTG TAACCACAACCCTCGGACAGACTCCTATTCCTCCATGGCATTGTAACCAC AACCCTCGGACAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 NA18906.hp1 HG01884.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0034 a0002c0002t0035 a0002c0002t0034 a0002c0002t0035	a0002c0002t0034g0101 a0002c0002t0035g0100 a0002c0002t0034g0101 a0002c0002t0035g0100	2	258	0.0078	313	c.20 others(324): Show c.2051_*2052insTTCCTCCATGGCATTGTAACCACAACCCTCGGAC AGACTCCTATTCCTCCATGGCATTGTAACCACAACCCTCGGACAGACTCC TCCTACTCCTCCATGGCATTGTAACCACAACCCTCGGACAGACTCCTATT CCTCCATGGCATTGTAACCACAACCCTCGGACAGACTCCTATTCCTCCAT GGCATTGTAACCACAACCCTCGGACAGACTCCTCCTACTCCTCCATGGCA TTGTAACCACAACCCTCGGACAGACTCCTCCTACTCCTCCATGGCATTGT AACCACAACCCTCGGACAGACTCCTCCTA	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	17/17	2052	INFO_REALIGN_3_PRIME	chr3	TogoVar
LMO7_chr13_75631330_75864866	75705912	T T	TAAAGGAT others(306): Show TAAAGGATGTTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp1 HG01433.hp2 HG00280.hp1 HG01070.hp1 HG01433.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0141 a0003c0002t0001g0157 a0003c0002t0001g0158 a0003c0002t0001g0141 a0003c0002t0001g0157 a0003c0002t0001g0158	3	272	0.0110	313	c.70- others(328): Show c.70-7258_70-7257insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAGGATGTTGC	LMO7	ENSG00000136153.20	transcript	ENST00000377534.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr13	TogoVar
LNP1_chr3_100396539_100461319	100458407	T T	TAAAAACC others(306): Show TAAAAACCCCAAAACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01192.hp2 HG01952.hp1 others(17): Show HG00140.hp2 HG01192.hp2 HG01952.hp1 HG02055.hp2 HG02738.hp1 HG02896.hp1 HG02970.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 NA18906.hp2 NA18944.hp1 NA18957.hp2 NA18965.hp2 NA18975.hp2 NA18981.hp1 NA19009.hp2 NA19060.hp1 NA19085.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0283 a0001c0001t0001g0368 a0001c0001t0002g0308 a0001c0001t0002g0314 a0001c0001t0002g0321 a0001c0001t0002g0337 a0001c0001t0002g0345 a0001c0001t0002g0353 a0001c0001t0002g0371 a0001c0001t0003g0144	20	398	0.0503	313	c.24 others(324): Show c.2481_*2482insAAAAACCCCAAAACAGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAA	LNP1	ENSG00000206535.8	transcript	ENST00000383693.8	protein_coding		2089		chr3	TogoVar
LNPEP_chr5_96931080_97042513	96962836	T T	TGAATGTT others(306): Show TGAATGTTGGCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGCTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp2 HG01975.hp2 others(3): Show HG00738.hp2 HG01167.hp2 HG01975.hp2 HG01981.hp2 HG02738.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0015 a0001c0001 a0001c0012 a0001c0015	a0001c0001t0016 a0001c0012t0028 a0001c0015t0028 a0001c0001t0016 a0001c0012t0028 a0001c0015t0028	a0001c0001t0016g0190 a0001c0001t0016g0191 a0001c0001t0016g0192 others(3): Show a0001c0001t0016g0190 a0001c0001t0016g0191 a0001c0001t0016g0192 a0001c0001t0016g0193 a0001c0012t0028g0189 a0001c0015t0028g0194	6	352	0.0171	313	c.20- others(330): Show c.20-16288_20-16287insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGCTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCGAATGTTGGCTTTT	LNPEP	ENSG00000113441.16	transcript	ENST00000231368.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
LOC122526780_chr17_6631780_6645316	6635337	T T	TAAAAGCA others(306): Show TAAAAGCAACCACACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	428	0.0023	313	c.14 others(324): Show c.1442_*1443insTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCGTGTGGTTGCTTTT	LOC122526780	ENSG00000282936.3	transcript	ENST00000713584.1	protein_coding		1442		chr17	TogoVar
LRBA_chr4_150259435_151020284	150372750	G G	GCAGTAAG others(306): Show GCAGTAAGTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCCCGCT GTTTAGCCCAGGCCGGATTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCT TGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCAGC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0011 a0002c0003t0001g0011	1	180	0.0056	313	c.719 others(334): Show c.7195-22592_7195-22591insGCTGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAG ATCGAGACCATCTTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAATCCGGCCTGGGCTAAACAGCGGGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAACTTACTG	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	47/56			chr4	TogoVar
LRRC23_chr12_6899822_6919229	6909079	T T	TTATATAT others(306): Show TTATATATTATATATAATTATATATATTATATATAATATATAATATATAA TATATAATATATAATATATATTTATTAATAATATATATAATATATTTATT TATTTATATATATATATTATTATATATATATAAATATATATATTTATTAA TATATATATAAATATATATATTTATTAATAATATATATAATATATATATT TATTACACACTCTATCAGATTAAATATATATATTTATTAATAATATATAT AATATATATATAATATATAATATAATATAATAATATATATTTATATATAA TATATAATATATAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0199 a0002c0002t0003g0199	1	316	0.0032	313	c.622 others(328): Show c.622-805_622-804insTTATATATAATTATATATATTATATATAAT ATATAATATATAATATATAATATATAATATATATTTATTAATAATATATA TAATATATTTATTTATTTATATATATATATTATTATATATATATAAATAT ATATATTTATTAATATATATATAAATATATATATTTATTAATAATATATA TAATATATATATTTATTACACACTCTATCAGATTAAATATATATATTTAT TAATAATATATATAATATATATATAATATATAATATAATATAATAATATA TATTTATATATAATATATAATATATAATATATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRC4C_chr11_40109209_41464652	40472454	T T	TAAAGAAG others(306): Show TAAAGAAGTGTTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01261.hp2 HG02055.hp1 others(11): Show HG01074.hp2 HG01261.hp2 HG02055.hp1 HG02698.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03453.hp1 HG03540.hp2 NA18906.hp2 NA18989.hp1 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0002g0009 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0002t0001g0022 a0001c0002t0002g0012	14	48	0.2917	313	c.-26 others(336): Show c.-269-152734_-269-152733insTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCTAAACACTTCTTT	LRRC4C	ENSG00000148948.8	transcript	ENST00000528697.6	protein_coding	3/6			chr11	TogoVar
LRRK2_chr12_40219997_40374285	40279207	T T	TGCCAATA others(306): Show TGCCAATAGTTTACTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCACCCG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0354 a0001c0005t0002g0354	1	382	0.0026	313	c.224 others(330): Show c.2241+964_2241+965insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCACCCGGCCAATAGTTTACTTTTT	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	18/50		INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRK2_chr12_40219997_40374285	40279207	T T	TGCCAATA others(306): Show TGCCAATAGTTTACTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19062.hp2 NA18955.hp2 NA19062.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0044 a0002c0001t0001g0074 a0002c0001t0001g0044 a0002c0001t0001g0074	2	382	0.0052	313	c.224 others(330): Show c.2241+964_2241+965insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCAATAGTTTACTTTTT	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	18/50		INFO_REALIGN_3_PRIME	chr12	TogoVar
LTV1_chr6_143838338_143868812	143861811	A A	ATGAGTTA others(306): Show ATGAGTTATGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02976.hp1 HG02809.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0001g0043 a0001c0003t0001g0044	2	412	0.0049	313	c.924 others(328): Show c.924-277_924-276insTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCTGAGTTATGCTTTTTT	LTV1	ENSG00000135521.9	transcript	ENST00000367576.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
MACF1_chr1_39199695_39492138	39281485	T T	TAAAACTT others(306): Show TAAAACTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0244 a0006c0005t0001g0244	1	246	0.0041	313	c.529 others(328): Show c.529-712_529-711insTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCAAAACTTTTTT	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	6/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP7_chr6_136337734_136555422	136528883	T T	TAAGACAT others(306): Show TAAGACATAAATTCGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATCGC GCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0003 a0002c0002t0003g0003	1	248	0.0040	313	c.67+ others(330): Show c.67+21458_67+21459insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTTTCGCTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCGAATTTATGTCTT	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17			chr6	TogoVar
MARCHF3_chr5_126862714_127035558	126966470	A A	AAGGATGT others(306): Show AAGGATGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCACGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03041.hp2 NA19030.hp2 HG01884.hp1 HG03041.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0047 a0001c0001t0048 a0001c0001t0010 a0001c0001t0047 a0001c0001t0048	a0001c0001t0010g0002 a0001c0001t0047g0215 a0001c0001t0048g0235 a0001c0001t0010g0002 a0001c0001t0047g0215 a0001c0001t0048g0235	3	296	0.0101	313	c.-56 others(332): Show c.-56-48244_-56-48243insGGCCGGGCGTGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACATCCT	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding	1/4			chr5	TogoVar
MBP_chr18_76973833_77137783	77044931	G G	GCCGGGCG others(306): Show GCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01975.hp1 HG02056.hp1 others(14): Show HG00639.hp1 HG01975.hp1 HG02056.hp1 HG03471.hp1 NA18944.hp1 NA18947.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18973.hp2 NA18999.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19063.hp1 NA19081.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0010 a0001c0001 a0001c0002 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0036 a0001c0002t0001 a0001c0002t0002 a0001c0002t0019 a0006c0010t0019	a0001c0001t0001g0052 a0001c0001t0001g0158 a0001c0001t0001g0174 others(14): Show a0001c0001t0001g0052 a0001c0001t0001g0158 a0001c0001t0001g0174 a0001c0001t0002g0262 a0001c0001t0003g0186 a0001c0001t0005g0267 a0001c0001t0007g0341 a0001c0001t0007g0342 a0001c0001t0010g0123 a0001c0001t0036g0200 a0001c0002t0001g0063 a0001c0002t0001g0192 a0001c0002t0002g0275 a0001c0002t0002g0283 a0001c0002t0002g0296 a0001c0002t0019g0286 a0006c0010t0019g0282	17	396	0.0429	313	c.139 others(332): Show c.139+21366_139+21367insTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGG CGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTC CTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77130404	T T	TGAAGATA others(306): Show TGAAGATATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02630.hp2 HG02922.hp1 others(3): Show HG01891.hp1 HG02630.hp2 HG02922.hp1 HG02976.hp2 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0001 a0001c0002t0012 others(1): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0012 a0001c0003t0010	a0001c0001t0003g0161 a0001c0002t0001g0142 a0001c0002t0001g0162 others(3): Show a0001c0001t0003g0161 a0001c0002t0001g0142 a0001c0002t0001g0162 a0001c0002t0001g0181 a0001c0002t0012g0160 a0001c0003t0010g0141	6	396	0.0152	313	c.-26 others(330): Show c.-26+2175_-26+2176insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTCATATCTTC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MBTPS1_chr16_84048763_84121942	84051532	C C	CCCGCATG others(306): Show CCCGCATGTGCTTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGC TACAAGGCCGCATGTAGGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAG GAGAGCTGCAAGGCCCACATGTGGGTAAGGAGAGCTGCAAGGCCGCATGT GGGTAAGGAGAGCTGCAAGGCCCACATGTGGGTAAGGAGAGCTGCAAGGC CGCATGTGGGTAAGGAGAGCTGCAAGGCCCGCATGTGGGTAAGGAGAGCG GCAAGGCCCGCATGTGGGTAAGGAGAGCTACAAGGCCCGCATGTGCGTAA GGAGAGCTGCAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03209.hp1 HG03471.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0286 a0001c0002t0009g0289 a0001c0002t0009g0290 a0001c0002t0009g0286 a0001c0002t0009g0289 a0001c0002t0009g0290	3	424	0.0071	313	c.29 others(324): Show c.2916_*2917insCCTTGCAGCTCTCCTTACGCACATGCGGGCCTTG TAGCTCTCCTTACCCACATGCGGGCCTTGCCGCTCTCCTTACCCACATGC GGGCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACC CACATGTGGGCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCT CCTTACCCACATGTGGGCCTTGCAGCTCTCCTTACCCACATGCGGCCTTG CAGCTCTCCTTACCTACATGCGGCCTTGTAGCTCTCCTTACCCACATGCG GCCTTGCAGCTCTCCTTAAGCACATGCGG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2230		chr16	TogoVar
MCHR2_chr6_99913519_99999223	99959609	T T	TAAAACAA others(306): Show TAAAACAATACAGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGCGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCTGCCTGGGCGACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	316	0.0032	313	c.-27 others(330): Show c.-27-3436_-27-3435insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTCGCCCAGGCAGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCGCCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTCCTGTATTGTTTT	MCHR2	ENSG00000152034.11	transcript	ENST00000281806.7	protein_coding	1/5			chr6	TogoVar
MCHR2_chr6_99913519_99999223	99959609	T T	TAAAACAA others(306): Show TAAAACAATACAGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGAGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCTGCCTGGGCGACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	316	0.0032	313	c.-27 others(330): Show c.-27-3436_-27-3435insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTCGCCCAGGCAGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCTCGCTCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTCCTGTATTGTTTT	MCHR2	ENSG00000152034.11	transcript	ENST00000281806.7	protein_coding	1/5			chr6	TogoVar
MCHR2_chr6_99913519_99999223	99959609	T T	TAAAACAA others(306): Show TAAAACAATACAGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGAGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCTGCCTGGGCGACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01109.hp1 HG01168.hp2 others(17): Show HG00140.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp2 HG01257.hp1 HG01496.hp2 HG01891.hp2 HG02258.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG03209.hp1 HG03516.hp2 HG03540.hp1 NA19043.hp2 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0029 a0001c0002t0006 a0001c0002t0025	a0001c0001t0001g0145 a0001c0001t0001g0284 a0001c0001t0006g0179 others(15): Show a0001c0001t0001g0145 a0001c0001t0001g0284 a0001c0001t0006g0179 a0001c0001t0006g0182 a0001c0001t0006g0184 a0001c0001t0009g0004 a0001c0001t0009g0047 a0001c0001t0009g0054 a0001c0001t0009g0072 a0001c0001t0011g0286 a0001c0001t0011g0288 a0001c0001t0011g0289 a0001c0001t0016g0008 a0001c0001t0029g0285 a0001c0002t0006g0113 a0001c0002t0006g0181 a0001c0002t0006g0232 a0001c0002t0025g0106	20	316	0.0633	313	c.-27 others(330): Show c.-27-3436_-27-3435insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTCGCCCAGGCAGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCTGCCACCTCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTCCTGTATTGTTTT	MCHR2	ENSG00000152034.11	transcript	ENST00000281806.7	protein_coding	1/5			chr6	TogoVar
MCHR2_chr6_99913519_99999223	99959609	T T	TAAAACAA others(306): Show TAAAACAATACAGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCTGCCTGGGCGACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(79): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00558.hp1 HG00639.hp1 HG00642.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01167.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01433.hp2 HG01884.hp2 HG01934.hp2 HG01978.hp1 HG02015.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02135.hp2 HG02273.hp1 HG02273.hp2 HG02572.hp1 HG02602.hp2 HG02698.hp2 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03239.hp1 HG03492.hp1 HG03654.hp1 HG03710.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18943.hp2 NA18951.hp1 NA18952.hp2 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18969.hp2 NA18973.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19054.hp1 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19065.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0026 a0001c0001t0027 a0001c0001t0033 a0002c0003t0001	a0001c0001t0001g0010 a0001c0001t0001g0091 a0001c0001t0001g0093 others(77): Show a0001c0001t0001g0010 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0278 a0001c0001t0001g0298 a0001c0001t0002g0125 a0001c0001t0002g0229 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0037 a0001c0001t0005g0058 a0001c0001t0014g0013 a0001c0001t0014g0215 a0001c0001t0018g0090 a0001c0001t0018g0108 a0001c0001t0019g0016 a0001c0001t0026g0169 a0001c0001t0027g0213 a0001c0001t0033g0300 a0002c0003t0001g0122	82	316	0.2595	313	c.-27 others(330): Show c.-27-3436_-27-3435insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTCGCCCAGGCAGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTCCTGTATTGTTTT	MCHR2	ENSG00000152034.11	transcript	ENST00000281806.7	protein_coding	1/5			chr6	TogoVar
MEI4_chr6_77648039_77932045	77654537	T T	TAAAAAAT others(306): Show TAAAAAATTGAAAACAATGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAG TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	360	0.0028	313	c.-15 others(330): Show c.-15+1462_-15+1463insGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCGT AGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACT GCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAATTGAAAACAAT	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
METTL24_chr6_110238940_110363349	110305537	C C	CAAAAGAA others(306): Show CAAAAGAAGACATTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGAATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0181 a0001c0001t0004g0181	1	268	0.0037	313	c.558 others(330): Show c.558-6388_558-6387insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATTCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCAAATGTCTTCTTTT	METTL24	ENSG00000053328.9	transcript	ENST00000338882.5	protein_coding	3/4			chr6	TogoVar
METTL2B_chr7_128471748_128511602	128510773	A A	AAATGTAT others(306): Show AAATGTATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAAGCTCC GCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAACTTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTGTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0048 a0001c0002t0019g0048	1	406	0.0025	313	c.88 others(324): Show c.8857_*8858insAATGTATTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAG CTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAACTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTGT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCC	METTL2B	ENSG00000165055.16	transcript	ENST00000262432.13	protein_coding		4172		chr7	TogoVar
MIA3_chr1_222613097_222673007	222645833	T T	TGTGTTGG others(306): Show TGTGTTGGTAAATTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0134 a0002c0001t0002g0134	1	370	0.0027	313	c.360 others(330): Show c.3609+164_3609+165insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCGTGTTGGTAAATTCTT	MIA3	ENSG00000154305.18	transcript	ENST00000344922.10	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
MICAL3_chr22_17782649_18029561	17876928	G G	GGGAGCTT others(306): Show GGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAGCTTATGGAG GTTAGGGAGGTTAAGGAGGTTATGGAGGGTTAGGGTTAGGGAGGTTAGGG AGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTT AGGGAGGTTAGGGAGGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGA GATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTA GGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAG GTTAGGGAGATTAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01175.hp1 HG01074.hp1 HG01175.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0117 a0005c0008t0001g0128 a0005c0008t0001g0117 a0005c0008t0001g0128	2	274	0.0073	313	c.224 others(332): Show c.2242-4906_2242-4905insATAATCTCCCTAACCTCCATAACTGC CATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCATAA GCTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCC ATAACTGCCATAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAAC TTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCC TAACCCTAACCCTCCATAACCTCCTTAACCTCCCTAACCTCCATAAGCTC CCTAACCTCCTTAACCTCCCTAACCTCCATAAGCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(306): Show CTTTCCTTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCTCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	181	0.0055	313	c.107 others(332): Show c.1074-5164_1074-5163insTTTCCTTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCT CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MLH3_chr14_75008775_75056467	75032863	T T	TTGGAAAG others(306): Show TTGGAAAGATAGATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA20300.hp1 HG02486.hp2 NA20300.hp1	a0006 a0007 a0006 a0007	a0006c0006 a0007c0009 a0006c0006 a0007c0009	a0006c0006t0001 a0007c0009t0001 a0006c0006t0001 a0007c0009t0001	a0006c0006t0001g0044 a0007c0009t0001g0054 a0006c0006t0001g0044 a0007c0009t0001g0054	2	262	0.0076	313	c.371 others(330): Show c.3715+555_3715+556insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAATCTATCTTTCCA	MLH3	ENSG00000119684.16	transcript	ENST00000355774.7	protein_coding	7/12			chr14	TogoVar
MMP26_chr11_4699784_4997429	4902306	C C	CTAGAATT others(306): Show CTAGAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGACTACA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03195.hp2 HG01433.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0063 a0002c0002t0001g0166 a0001c0001t0001g0063 a0002c0002t0001g0166	2	206	0.0097	313	c.-14 others(334): Show c.-144-85751_-144-85750insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGC GGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCC CGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGC CTCGGCCTCCCAAAGTGCTGGGACTACATAGAATTTCTT	MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MOB1A_chr2_74147528_74183879	74176275	C C	CAAAAAAA others(306): Show CAAAAAAAAAAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02897.hp1 NA19240.hp2 HG02559.hp1 HG02897.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0216 a0001c0001t0011g0217 a0001c0001t0011g0218 a0001c0001t0011g0216 a0001c0001t0011g0217 a0001c0001t0011g0218	3	402	0.0075	313	c.14+ others(328): Show c.14+2385_14+2386insTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCTTTTTTTTTTTTTTTTTTTTTTTTT	MOB1A	ENSG00000114978.18	transcript	ENST00000396049.5	protein_coding	1/5			chr2	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(306): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCAGGAGGGAGGTGGGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCCG CCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03239.hp2 HG00423.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0002 a0001c0017t0001 a0001c0001t0002 a0001c0017t0001	a0001c0001t0002g0237 a0001c0017t0001g0208 a0001c0001t0002g0237 a0001c0017t0001g0208	2	256	0.0078	313	c.241 others(332): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGG CGGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537943	T T	TGGGGGGG others(306): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGT GGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCCGCCCCATCCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0147 a0001c0006t0006g0147	1	256	0.0039	313	c.241 others(332): Show c.241+14162_241+14163insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATG GGGCGGCTGTCCGGGCGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSRA_chr8_10049292_10433891	10275081	T T	TGAGAATA others(306): Show TGAGAATAATTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0286 a0001c0001t0005g0286	1	286	0.0035	313	c.332 others(332): Show c.332-26440_332-26439insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGAGAATAATTCTT	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTCL1_chr18_8700556_8837778	8718962	T T	TTTTTTTT others(306): Show TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACCGCGCCCG GCCATATTTTTTTA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0026 a0026	a0026c0106 a0026c0106	a0026c0106t0001 a0026c0106t0001	a0026c0106t0001g0301 a0026c0106t0001g0301	1	336	0.0030	313	c.127 others(330): Show c.1278+314_1278+315insTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGGGCCACCGCGCCCGGCCATATTTTTTTA	MTCL1	ENSG00000168502.18	transcript	ENST00000695636.1	protein_coding	2/14			chr18	TogoVar
MUC22_chr6_31005474_31040402	31013129	C C	CTTTTTTT others(306): Show CTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCCTT	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0041 a0041	a0041c0037 a0041c0037	a0041c0037t0001 a0041c0037t0001	a0041c0037t0001g0171 a0041c0037t0001g0171	1	461	0.0022	313	c.70+ others(328): Show c.70+2367_70+2368insTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTT	MUC22	ENSG00000261272.1	transcript	ENST00000561890.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
MUC22_chr6_31005474_31040402	31013129	C C	CTTTTTTT others(306): Show CTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18959.hp1 NA18999.hp2 HG02109.hp1 NA18959.hp1 NA18999.hp2	a0002 a0054 a0002 a0054	a0002c0006 a0002c0007 a0054c0103 a0002c0006 a0002c0007 a0054c0103	a0002c0006t0001 a0002c0007t0001 a0054c0103t0003 a0002c0006t0001 a0002c0007t0001 a0054c0103t0003	a0002c0006t0001g0177 a0002c0007t0001g0172 a0054c0103t0003g0173 a0002c0006t0001g0177 a0002c0007t0001g0172 a0054c0103t0003g0173	3	461	0.0065	313	c.70+ others(328): Show c.70+2367_70+2368insTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTT	MUC22	ENSG00000261272.1	transcript	ENST00000561890.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(306): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGCGGCGATGGT GGTGGTGGTGATGGTGGTGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGG TGATGGTGGTGGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGGTG GTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGAT GGTGGTAGTGTTCTGGTGGTAGTAGTGTTGGTTGTGGTGGTAGTCGTGGT GGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGA TGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA19060.hp1 NA18941.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0074 a0001c0001t0002g0041 a0001c0001t0002g0074	2	384	0.0052	313	c.160 others(330): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACGACTACCAC CACAACCAACACTACTACCACCAGAACACTACCACCATCACCACCACCAC CATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGG TCACCACCATCATTACCACTACCACCACCACCATCACCACCACCACCACT ACTGCCACCGCCGCCACCACCACCATCACCACCACCACCATCGCCGCCAC CACCACCACCACCATCACCACCACCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(306): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGCGGCGATGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGCGGCGGTGGCAG TAGTGGTGGTGGTGGTGATGGTGGTGGTGGTAGTGGTAATGATGGTGGTG ACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGAT GGTGGTAGTGTTCTGGTGGTAGTAGTGTTGGTTGTGGTGGTAGTCGTGGT GGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGA TGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18994.hp2 NA19087.hp1 NA18967.hp2 NA18994.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0040 a0001c0001t0002g0190 a0002c0002t0001g0248 a0001c0001t0002g0040 a0001c0001t0002g0190 a0002c0002t0001g0248	3	384	0.0078	313	c.160 others(330): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACGACTACCAC CACAACCAACACTACTACCACCAGAACACTACCACCATCACCACCACCAC CACCAGCAGCACTACCACTACCACCACCATCATGGTCACCACCATCATTA CCACTACCACCACCACCATCACCACCACCACCACTACTGCCACCGCCGCC ACCACCACCATCACCACCACCACCATCACCACCACCACCATCGCCGCCAC CACCACCACCACCATCACCACCACCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYO1D_chr17_32487522_32882124	32566830	T T	TTTAAGCT others(306): Show TTTAAGCTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCT CTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCGCGCCACCATGTCCGGCTAATTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0137	1	244	0.0041	313	c.286 others(334): Show c.2864+38256_2864+38257insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAATTAGCCGGACATGGTGGCGCGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGCTTAA	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	21/21			chr17	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(306): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTCTTC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCTCCCTCCCCTTCCCCTCTCCTCTCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCTC TCCCCTCTCCCTCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0061	1	223	0.0045	313	c.289 others(330): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCTCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC TCCCTCCCCTTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCTCCTCT CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCC CCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTCCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(306): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTCTTC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCC CTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCTC TCCCCTCTCCCTCC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03130.hp1 HG06807.hp2 others(1): Show HG02723.hp1 HG03130.hp1 HG06807.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0024 a0001c0001t0003 a0001c0001t0024	a0001c0001t0003g0030 a0001c0001t0003g0075 a0001c0001t0003g0115 others(1): Show a0001c0001t0003g0030 a0001c0001t0003g0075 a0001c0001t0003g0115 a0001c0001t0024g0002	4	223	0.0179	313	c.289 others(330): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCTCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC TCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCT CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCC CCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTCCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NBAS_chr2_15161916_15566334	15379415	T T	TAAGAAGC others(306): Show TAAGAAGCTGATGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGGGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01261.hp2 HG01884.hp2 others(14): Show HG00323.hp2 HG01261.hp2 HG01884.hp2 HG02055.hp1 HG02257.hp2 HG02280.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 NA18966.hp1 NA18984.hp1 NA19077.hp2 NA20129.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0011	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0006c0008 a0007c0007 a0011c0016	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0006c0008t0001 a0007c0007t0001 a0011c0016t0001	a0001c0001t0001g0108 a0001c0003t0001g0011 a0001c0003t0001g0012 others(14): Show a0001c0001t0001g0108 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0024 a0001c0003t0001g0025 a0002c0002t0001g0167 a0002c0002t0001g0173 a0002c0002t0001g0185 a0002c0002t0001g0189 a0006c0008t0001g0222 a0007c0007t0001g0156 a0007c0007t0001g0217 a0007c0007t0001g0218 a0007c0007t0001g0220 a0011c0016t0001g0201	17	224	0.0759	313	c.359 others(330): Show c.3590+186_3590+187insCTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCCCTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTCCATCAGCTTCTT	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	30/51			chr2	TogoVar

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