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
DNAH10_chr12_123757301_123940714	123872645	T T	TAAAAAAA others(310): Show TAAAAAAAATACCCTAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18977.hp1 NA18979.hp2 NA18964.hp1 NA18977.hp1 NA18979.hp2	a0006 a0006	a0006c0026 a0006c0027 a0006c0083 a0006c0026 a0006c0027 a0006c0083	a0006c0026t0002 a0006c0027t0001 a0006c0083t0001 a0006c0026t0002 a0006c0027t0001 a0006c0083t0001	a0006c0026t0002g0079 a0006c0027t0001g0115 a0006c0083t0001g0157 a0006c0026t0002g0079 a0006c0027t0001g0115 a0006c0083t0001g0157	3	170	0.0177	317	c.778 others(334): Show c.7786-906_7786-905insATACCCTAGAGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	45/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911779	G G	GGGGGGGT others(310): Show GGGGGGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGG GTTTGTCCTGGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGAGGGGTC TGTCCTGGGGGGGTCTGTCCTGGGGGGGGGGTCTGTCCTGGGGGGGTCTG TCCTGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGAGGGGTCTGTCCTGG GGGTTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTT TGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTTTGTC CTGGGAGGGGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0096 a0001c0002t0002g0096	1	170	0.0059	317	c.101 others(338): Show c.10134+1113_10134+1114insTCTGTCCTGGGGGAGTCTGTCCTG GGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGGTCTGTCCTGGGGGC GTCTGTCCTGGGAGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGGG TCTGTCCTGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGTTTGTCC TGGGAGGGGTCTGTCCTGGGGGTTCTGTCCTGGGGGGGTCTGTCCTGGGG GGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGT CTGTCCTGGGGGGTTTGTCCTGGGAGGGGTCTGTCCTGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH11_chr7_21538039_21906839	21584948	T T	TAAAAAAA others(310): Show TAAAAAAAATGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0079 a0079	a0079c0170 a0079c0170	a0079c0170t0001 a0079c0170t0001	a0079c0170t0001g0117 a0079c0170t0001g0117	1	298	0.0034	317	c.171 others(336): Show c.1710+2940_1710+2941insTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCC GGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATGTAG	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	9/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH12_chr3_57288700_57549344	57390422	A A	ATATATAT others(310): Show ATATATATATATATATATATATATATATACACATACATATACATATATAC ACATACATATACATATATACACATACATATACATATATACACATACATAT ACATATATACACATACATATATATATACATATATATACATATATATATAC GTATATATATACGTGTATATATATACACGTATATATATATACGTGTGTAT ATATACACATATATATATACACATATATATATATACACATATATATATAC ACATATATATATATACACATATATATATATACACATATATATATACACAC ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0089 a0004c0004t0001g0089	1	266	0.0038	317	c.730 others(336): Show c.7305+1449_7305+1450insATATATATATATATATATGTGTGTAT ATATATATGTGTATATATATATATGTGTATATATATATATGTGTATATAT ATATGTGTATATATATATATGTGTATATATATATGTGTATATATACACAC GTATATATATATACGTGTATATATATACACGTATATATATACGTATATAT ATATGTATATATATGTATATATATATGTATGTGTATATATGTATATGTAT GTGTATATATGTATATGTATGTGTATATATGTATATGTATGTGTATATAT GTATATGTATGTGTATATATATATATATATATATATATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAATATAT others(310): Show AAATATATATATATATATATATACACATACATATACATATATACACATAC ATATACATATATACACATACATATACATATATACACATACATATATATAT ACATATATATATACATATATATATACGTATATATATATACGTGTATATAT ATATACATATATATATATACGTGTGTATATATATACACATATATATATAC ACGTATATATATACACATATATATATATACACATATATATATATACACAC ATATATATATATACACATATATATATATACACATATATATATATATACAC ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0158 a0002c0002t0001g0158	1	266	0.0038	317	c.730 others(336): Show c.7305+1447_7305+1448insATATATATATATATATATGTGTATAT ATATATATATGTGTATATATATATATGTGTATATATATATATGTGTGTAT ATATATATATGTGTATATATATATATGTGTATATATATACGTGTATATAT ATATGTGTATATATATACACACGTATATATATATATGTATATATATATAC ACGTATATATATATACGTATATATATATGTATATATATATGTATATATAT ATGTATGTGTATATATGTATATGTATGTGTATATATGTATATGTATGTGT ATATATGTATATGTATGTGTATATATATATATATATATATT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	ATATATAT others(310): Show ATATATATATATATATATATATATACACATACATATACATATATACACAT ACATATACATATATACACATACATATACATATATACACATACATATATAT ATACATATATATATACATATATATATACGTATATATATATACGTGTATAT ATATATACATATATATATACGTGTGTATATATATACACATATATATATAC ACGTATATATATACACATATATATATATACACATATATATATATACACAT ATATATATATACACATATATATATATACACATATATATATATATACACAT ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0120	1	266	0.0038	317	c.730 others(336): Show c.7305+1447_7305+1448insATATATATATATATATATATGTGTAT ATATATATATATGTGTATATATATATATGTGTATATATATATATGTGTAT ATATATATATGTGTATATATATATATGTGTATATATATACGTGTATATAT ATATGTGTATATATATACACACGTATATATATATGTATATATATATACAC GTATATATATATACGTATATATATATGTATATATATATGTATATATATAT GTATGTGTATATATGTATATGTATGTGTATATATGTATATGTATGTGTAT ATATGTATATGTATGTGTATATATATATATATATATATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	ATATATAT others(310): Show ATATATATATATATATATATATATATACACATACATATACATATATACAC ATACATATACATATATACACATACATATACATATATACACATACATATAT ATATACATATATATACATATATATATACGTATATATATATACGTGTATAT ATATACACGTATATATATATACGTGTGTATATATACACATATATATATAC ACATATATATATATACACATATATATATACACATATATATATATACACAT ATATATATACACATATATATATATACACATATATATATACACACATATAT ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0018 a0018	a0018c0011 a0018c0011	a0018c0011t0001 a0018c0011t0001	a0018c0011t0001g0090 a0018c0011t0001g0090	1	266	0.0038	317	c.730 others(336): Show c.7305+1447_7305+1448insATATATATATATATATATATATATGT GTGTATATATATATGTGTATATATATATATGTGTATATATATATGTGTAT ATATATATATGTGTATATATATATGTGTATATATATATATGTGTATATAT ATATGTGTATATATACACACGTATATATATATACGTGTATATATATACAC GTATATATATATACGTATATATATATGTATATATATGTATATATATATGT ATGTGTATATATGTATATGTATGTGTATATATGTATATGTATGTGTATAT ATGTATATGTATGTGTATATATATATATATATATATATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAJC17_chr15_40760161_40812473	40808120	G G	GCAAAGCT others(310): Show GCAAAGCTACTCTTTAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTT TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGACTCACTGC AAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGTGT AGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00558.hp1 others(67): Show HG00099.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01255.hp2 HG01361.hp1 HG01952.hp1 HG01975.hp1 HG02015.hp1 HG02027.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp2 HG02148.hp2 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 NA18522.hp1 NA18522.hp2 NA18940.hp2 NA18944.hp1 NA18950.hp1 NA18950.hp2 NA18960.hp2 NA18964.hp2 NA18965.hp1 NA18972.hp1 NA18972.hp2 NA18977.hp2 NA18982.hp1 NA18994.hp1 NA18999.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19056.hp2 NA19062.hp1 NA19065.hp1 NA19070.hp1 NA19091.hp1 NA20129.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0014 a0001c0001t0030 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 others(53): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0118 a0001c0001t0002g0039 a0001c0001t0004g0052 a0001c0001t0004g0056 a0001c0001t0004g0084 a0001c0001t0007g0064 a0001c0001t0014g0045 a0001c0001t0014g0063 a0001c0001t0030g0086 a0002c0002t0001g0067 a0003c0003t0001g0081	70	358	0.1955	317	c.-67 others(326): Show c.-675_-674insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCATGGTGGCGCGTGCCTGTAGTCCCAGCTACACAGGAGGCTGAGGCA GGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATTGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAATTAAAGAGTAGCTTTG	DNAJC17	ENSG00000104129.10	transcript	ENST00000220496.9	protein_coding		648		chr15	TogoVar
DNM2_chr19_10713079_10836903	10758435	C C	CTCCCTCC others(310): Show CTCCCTCCTTCCTTCCCTCCCTCCTTCCCTTCCCTCCCTCCCTTCCCTCC CTCCTTCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTC CTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCC TCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCTTCCTTC CCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCT TCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTC CTTCCTTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0078 a0001c0002t0002g0078	1	278	0.0036	317	c.162 others(334): Show c.162-1276_162-1275insCTTCCCTCCCTCCCTTCCCTCCCTCCTT CTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCC TCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTC CTTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCTTCCTTCCCTCCC TCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCTC CCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCT TCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOCK2_chr5_169632275_170088382	169939239	T T	TAAAAACT others(310): Show TAAAAACTAAGACACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0013 a0013	a0013c0066 a0013c0066	a0013c0066t0003 a0013c0066t0003	a0013c0066t0003g0104 a0013c0066t0003g0104	1	184	0.0054	317	c.280 others(338): Show c.2800-43813_2800-43812insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACTAAGACACAA	DOCK2	ENSG00000134516.20	transcript	ENST00000520908.7	protein_coding	27/51		INFO_REALIGN_3_PRIME	chr5	TogoVar
DOCK5_chr8_25179689_25420711	25315130	A A	AATATAAA others(310): Show AATATAAAAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCTGGCTAATT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02165.hp2 HG03239.hp1 HG00438.hp2 HG02165.hp2 HG03239.hp1	a0002 a0002	a0002c0006 a0002c0007 a0002c0010 a0002c0006 a0002c0007 a0002c0010	a0002c0006t0076 a0002c0007t0002 a0002c0010t0017 a0002c0006t0076 a0002c0007t0002 a0002c0010t0017	a0002c0006t0076g0081 a0002c0007t0002g0056 a0002c0010t0017g0135 a0002c0006t0076g0081 a0002c0007t0002g0056 a0002c0010t0017g0135	3	210	0.0143	317	c.131 others(336): Show c.1319-1873_1319-1872insAAAAATTCTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGG AGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATAT	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	13/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK8_chr9_209865_470255	262448	T T	TAAAAAAA others(310): Show TAAAAAAAACCATGTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0005 a0005	a0005c0158 a0005c0158	a0005c0158t0001 a0005c0158t0001	a0005c0158t0001g0140 a0005c0158t0001g0140	1	256	0.0039	317	c.54- others(332): Show c.54-9164_54-9163insTGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAACCATGTT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400472	C C	CCTCCACC others(310): Show CCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACC ACCACCTCCACCATCACCACCACCTCCACCACCACCACCTCCACCACCAG CACTTCCACCATCACCACCTCCACCACCTCCACCACCACCGTCACCACCT TCTCCACCACCACCATCTTCACCACCACCACCATCGCCCTGCCCACCTCT AGCAATATTATCACCTTTCCTATCACCTCCAATATCACTACCTCCTCCAC CATCACCACCATCACCTCCACCACCACCACCTCCTCCACCATCACCACCT CCTTCACCATCACCATCA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01952.hp1 HG02273.hp2 others(7): Show HG00621.hp2 HG01952.hp1 HG02273.hp2 HG02293.hp1 NA18961.hp1 NA18968.hp1 NA18970.hp2 NA18997.hp1 NA19010.hp2 NA19091.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0062 a0002c0006 others(2): Show a0001c0003 a0001c0062 a0002c0006 a0003c0001 a0003c0004	a0001c0003t0001 a0001c0062t0001 a0002c0006t0001 others(2): Show a0001c0003t0001 a0001c0062t0001 a0002c0006t0001 a0003c0001t0001 a0003c0004t0001	a0001c0003t0001g0108 a0001c0062t0001g0164 a0002c0006t0001g0222 others(7): Show a0001c0003t0001g0108 a0001c0062t0001g0164 a0002c0006t0001g0222 a0002c0006t0001g0223 a0002c0006t0001g0226 a0002c0006t0001g0237 a0002c0006t0001g0238 a0003c0001t0001g0138 a0003c0004t0001g0161 a0003c0004t0001g0162	10	256	0.0391	317	c.323 others(336): Show c.3234+1214_3234+1215insTCCACCATCACCACCACCTCCACCAT CACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCA CCACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCACCACC TCCACCACCACCGTCACCACCTTCTCCACCACCACCATCTTCACCACCAC CACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCT CCAATATCACTACCTCCTCCACCATCACCACCATCACCTCCACCACCACC ACCTCCTCCACCATCACCACCTCCTTCACCATCACCATCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400472	C C	CCTCCACC others(310): Show CCTCCACCATCACCACCACCTCCATCACCACCACCTCCACCACCACCACC ACCTCCACCATCACCACCTCCTTCACCATCACCACCACCACCACCTCCAC TATCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCA TCTTCACCAACACCACCACCTCCACCACCACCAGCATCTTCACCATCACC ACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCAT CACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCT CCACCTCCACCATCACCA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0044 a0001c0003t0001g0044	1	256	0.0039	317	c.323 others(336): Show c.3234+1214_3234+1215insTCCACCATCACCACCACCTCCATCAC CACCACCTCCACCACCACCACCACCTCCACCATCACCACCTCCTTCACCA TCACCACCACCACCACCTCCACTATCACCACCACCACCTCCACCATCACC ACCACCTCCACCACCACCAGCATCTTCACCAACACCACCACCTCCACCAC CACCAGCATCTTCACCATCACCACCACCTCCACCATCACCACCACCTCCA CCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACC TCCTTCACCATCACCATCACCTCCACCTCCACCATCACCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPP10_chr2_114437641_115850780	114633146	T T	TAAAATGG others(310): Show TAAAATGGAAATCAGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19030.hp1 HG03098.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0007 a0001c0002t0001 a0001c0004t0007	a0001c0002t0001g0038 a0001c0004t0007g0055 a0001c0002t0001g0038 a0001c0004t0007g0055	2	56	0.0357	317	c.60+ others(336): Show c.60+190321_60+190322insGGCCGGGCGCGGTGGCTCACACCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATGGAAATCA	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115076289	T T	TGAGATCC others(310): Show TGAGATCCTTTTTCTTTCTTTTTTTTTTTTTTTCCGAGACGGAGTCTCGC TCTGTCCCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCGCTGCAAGC TCTGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCAGAGTAGCT GGGACTACAGGCGCTCGCCACCACGCCCGGCTAATTTTTTCTATTTTTTA AGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTTCCGA CCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0030 a0004c0005t0003g0030	1	56	0.0179	317	c.61- others(336): Show c.61-232936_61-232935insTTCTTTTTTTTTTTTTTTCCGAGACG GAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC GCTGCAAGCTCTGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCC AGAGTAGCTGGGACTACAGGCGCTCGCCACCACGCCCGGCTAATTTTTTC TATTTTTTAAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTTCCGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCGAGATCCTTTTTCT	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP6_chr7_154047398_154899285	154590555	A A	ATGGAGTT others(310): Show ATGGAGTTTAACTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02280.hp1 HG02486.hp2 others(3): Show HG01433.hp2 HG02280.hp1 HG02486.hp2 HG03453.hp2 HG03579.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0020 a0002c0009 others(3): Show a0001c0003 a0001c0020 a0002c0009 a0002c0014 a0002c0026 a0002c0028	a0001c0003t0007 a0001c0020t0001 a0002c0009t0004 others(3): Show a0001c0003t0007 a0001c0020t0001 a0002c0009t0004 a0002c0014t0025 a0002c0026t0026 a0002c0028t0002	a0001c0003t0007g0024 a0001c0020t0001g0010 a0002c0009t0004g0004 others(3): Show a0001c0003t0007g0024 a0001c0020t0001g0010 a0002c0009t0004g0004 a0002c0014t0025g0029 a0002c0026t0026g0006 a0002c0028t0002g0016	6	38	0.1579	317	c.627 others(336): Show c.627+23654_627+23655insTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTGGAGTTTAACTCTT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	5/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DROSHA_chr5_31395494_31537093	31509247	T T	TAAAAAAA others(310): Show TAAAAAAAAAATATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp2 HG02486.hp1 others(5): Show HG01243.hp2 HG02451.hp2 HG02486.hp1 HG02970.hp1 HG03453.hp2 HG03516.hp2 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0008 a0001c0021 a0001c0008 a0001c0021	a0001c0008t0002 a0001c0021t0001 a0001c0008t0002 a0001c0021t0001	a0001c0008t0002g0041 a0001c0008t0002g0042 a0001c0008t0002g0043 others(5): Show a0001c0008t0002g0041 a0001c0008t0002g0042 a0001c0008t0002g0043 a0001c0008t0002g0044 a0001c0008t0002g0046 a0001c0008t0002g0047 a0001c0008t0002g0048 a0001c0021t0001g0250	8	322	0.0248	317	c.143 others(334): Show c.1433-473_1433-472insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTATATTTTTTTTTT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	9/35			chr5	TogoVar
DST_chr6_56452996_56959830	56837910	T T	TAAAGGAC others(310): Show TAAAGGACAAGCAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0052 a0007c0008t0001g0052	1	84	0.0119	317	c.625 others(336): Show c.625+13486_625+13487insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTCTGCTTGTCCTTT	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	4/103			chr6	TogoVar
EARS2_chr16_23515754_23562350	23521764	T T	TGACCACT others(310): Show TGACCACTCACTTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02293.hp1 HG02300.hp1 HG02293.hp1 HG02300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0030 a0001c0003t0014g0031 a0001c0003t0014g0030 a0001c0003t0014g0031	2	286	0.0070	317	c.26 others(328): Show c.2606_*2607insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAACAAAGTGAGTGGTC	EARS2	ENSG00000103356.18	transcript	ENST00000449606.7	protein_coding	9/9	2606		chr16	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124761401	T T	TAAAATGG others(310): Show TAAAATGGTATGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACGCGGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTGGTCCCGGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03225.hp2 HG01891.hp2 HG03225.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0004 a0001c0001 a0006c0004	a0001c0001t0006 a0006c0004t0006 a0001c0001t0006 a0006c0004t0006	a0001c0001t0006g0156 a0006c0004t0006g0155 a0001c0001t0006g0156 a0006c0004t0006g0155	2	358	0.0056	317	c.875 others(332): Show c.875+898_876-898insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGACCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCCGGGACCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGGCGGGGTTTCACCGCGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCAACATACCATTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	6/6			chr10	TogoVar
EIF3B_chr7_2349827_2385745	2378317	C C	CCTGGGAT others(310): Show CCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCG AGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAG GAGAAGGCGCGAGCACTG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	384	0.0026	317	c.215 others(334): Show c.2155-357_2155-356insCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTT CTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTC TGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCA GGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCG AGGAAGGAGAAGGCGCGAGCACTGCTGGGATGCTGTGTT	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF4EBP1_chr8_38025534_38065365	38052417	T T	TGCCTGGT others(310): Show TGCCTGGTTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	2	344	0.0058	317	c.146 others(334): Show c.146-4648_146-4647insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGCCTGGTTAATTTTTT	EIF4EBP1	ENSG00000187840.5	transcript	ENST00000338825.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ELMOD3_chr2_85349769_85396748	85362448	T T	TAAGATAA others(310): Show TAAGATAATTGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	386	0.0026	317	c.129 others(332): Show c.129+201_129+202insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAGATAATTGCCA	ELMOD3	ENSG00000115459.18	transcript	ENST00000409013.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54889450	T T	TAAAGTCT others(310): Show TAAAGTCTGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGG CTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02886.hp2 NA18983.hp2 HG02257.hp2 HG02886.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0001t0001 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0178 a0001c0002t0001g0234 a0001c0005t0001g0092 a0001c0001t0001g0178 a0001c0002t0001g0234 a0001c0005t0001g0092	3	264	0.0114	317	c.243 others(336): Show c.2439-1589_2439-1588insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTC ACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCAAAGTCTGCCTTTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54889450	T T	TAAAGTCT others(310): Show TAAAGTCTGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGG CTCCGCCCCCTGGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03486.hp2 HG02145.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0014 a0001c0002 a0001c0014	a0001c0002t0001 a0001c0014t0003 a0001c0002t0001 a0001c0014t0003	a0001c0002t0001g0236 a0001c0014t0003g0128 a0001c0002t0001g0236 a0001c0014t0003g0128	2	264	0.0076	317	c.243 others(336): Show c.2439-1589_2439-1588insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTC ACTGCAGGCTCCGCCCCCTGGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCAAAGTCTGCCTTTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
ENTPD5_chr14_73958230_74024288	73978270	T T	TAAAAATG others(310): Show TAAAAATGGACGTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAG CCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03453.hp1 HG02280.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0135 a0001c0001t0011g0136 a0001c0001t0011g0135 a0001c0001t0011g0136	2	380	0.0053	317	c.442 others(332): Show c.442-897_442-896insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GTGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTGACGTCCATTTTT	ENTPD5	ENSG00000187097.13	transcript	ENST00000334696.11	protein_coding	6/15			chr14	TogoVar
EPB41L2_chr6_130834347_131068245	130854323	T T	TAAATACT others(310): Show TAAATACTTTTTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGA GGCAGGAGAATGGCATGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03834.hp2 HG03669.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0292 a0001c0001t0002g0255 a0001c0001t0002g0292	2	356	0.0056	317	c.5+ others(332): Show c.5+3807_*5+3808insTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGTGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTCAAAAAGTATTT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	19/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130854323	T T	TAAATACT others(310): Show TAAATACTTTTTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp2 HG01081.hp1 others(13): Show HG00642.hp2 HG00673.hp2 HG01081.hp1 HG01099.hp2 HG01123.hp2 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03688.hp2 HG04184.hp2 NA18955.hp1 NA19083.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0159 a0001c0001t0002g0290 others(13): Show a0001c0001t0002g0006 a0001c0001t0002g0159 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0303 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346	16	356	0.0449	317	c.5+ others(332): Show c.5+3807_*5+3808insTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGTGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTCAAAAAGTATTT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	19/19			chr6	TogoVar
EPB41L4A_chr5_112157619_112424277	112322978	T T	TAGAAGAC others(310): Show TAGAAGACAAGAAAGGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp2 HG01261.hp1 others(36): Show HG00438.hp1 HG00621.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp2 HG01993.hp1 HG02040.hp2 HG02109.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02300.hp1 HG02523.hp2 HG02630.hp1 HG02886.hp2 HG03239.hp1 HG03669.hp2 HG03688.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp2 NA18747.hp2 NA18950.hp2 NA18960.hp2 NA18963.hp1 NA18983.hp2 NA18988.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19003.hp2 NA19010.hp1 NA19058.hp2 NA19064.hp1 NA19068.hp1 NA19087.hp1 NA20300.hp2	a0001 a0005 a0009 others(1): Show a0001 a0005 a0009 a0015	a0001c0001 a0001c0002 a0001c0021 others(3): Show a0001c0001 a0001c0002 a0001c0021 a0005c0015 a0009c0029 a0015c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0038 a0001c0001t0045 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0022 a0001c0002t0039 a0001c0002t0041 a0001c0021t0002 a0005c0015t0004 a0009c0029t0010 a0015c0027t0010	a0001c0001t0001g0103 a0001c0001t0002g0008 a0001c0001t0005g0123 others(36): Show a0001c0001t0001g0103 a0001c0001t0002g0008 a0001c0001t0005g0123 a0001c0001t0005g0139 a0001c0001t0005g0177 a0001c0001t0005g0178 a0001c0001t0005g0179 a0001c0001t0005g0180 a0001c0001t0005g0184 a0001c0001t0005g0199 a0001c0001t0008g0009 a0001c0001t0008g0010 a0001c0001t0008g0017 a0001c0001t0008g0018 a0001c0001t0008g0019 a0001c0001t0008g0024 a0001c0001t0038g0169 a0001c0001t0045g0200 a0001c0002t0001g0201 a0001c0002t0002g0012 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0003g0097 a0001c0002t0003g0118 a0001c0002t0003g0146 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0198 a0001c0002t0003g0213 a0001c0002t0005g0142 a0001c0002t0022g0109 a0001c0002t0039g0173 a0001c0002t0041g0082 a0001c0021t0002g0016 a0005c0015t0004g0161 a0009c0029t0010g0037 a0015c0027t0010g0036	39	228	0.1711	317	c.100 others(336): Show c.100-15489_100-15488insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCA CTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCACCTTTCTTGTCTTCT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41_chr1_28909569_29125041	29055652	T T	TAGAAAAT others(310): Show TAGAAAATAACTATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACGCCGTCTCAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0044 a0001c0001t0035g0044	1	312	0.0032	317	c.184 others(336): Show c.1845+2355_1845+2356insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACGCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAATAACTATGG	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	29100313	C C	CAAAAAAA others(310): Show CAAAAAAATTAGCTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGTCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	312	0.0032	317	c.231 others(336): Show c.2313+2394_2313+2395insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGG	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ERBB4_chr2_211370717_212543802	211843607	T T	TAAAAATG others(310): Show TAAAAATGTTTTTCTAGACATCCTTGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03486.hp1 HG02965.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0021 a0001c0001t0012g0001 a0001c0001t0001g0021 a0001c0001t0012g0001	2	56	0.0357	317	c.422 others(336): Show c.422-55449_422-55448insTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCAAGGATGTCTAGAAAAACATTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212164961	T T	TCTTTTTC others(310): Show TCTTTTTCGCATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTT GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03453.hp2 HG02258.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0047 a0001c0002t0001g0048 a0001c0001t0002g0047 a0001c0002t0001g0048	2	56	0.0357	317	c.83- others(334): Show c.83-40059_83-40058insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAATGCGAAAAAG	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERC2_chr3_55503311_56473467	55851188	T T	TTTTTTTT others(310): Show TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCC CGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC CTAGATAATGATTTTTTA	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA19043.hp2 HG02738.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0035 a0001c0001t0001g0041	2	74	0.0270	317	c.256 others(338): Show c.2564+37200_2564+37201insTAAAAAATCATTATCTAGGCCGGG CGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERP44_chr9_99974185_100104000	100087012	T T	TAAAAAAA others(310): Show TAAAAAAAAAAACTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	220	0.0046	317	c.57+ others(334): Show c.57+11771_57+11772insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCAAAGTTTTTTTTTTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar
ESF1_chr20_13709325_13789919	13723498	T T	TCCTAGAT others(310): Show TCCTAGATGATATTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTT GCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCAGCTATTTTTTTGTATTTTT AGTAGAGACGGAGTTTCACTGTGTTATCCAGGATGGTCTCGATCTCCTGA ACTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG02559.hp2 others(3): Show HG02055.hp2 HG02486.hp1 HG02559.hp2 HG03540.hp1 HG03831.hp2 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0002 a0001c0001t0002 a0003c0004t0002	a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 others(3): Show a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0003c0004t0002g0339 a0003c0004t0002g0348	6	390	0.0154	317	c.203 others(336): Show c.2039-4515_2039-4514insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGTTCAGGAGA TCGAGACCATCCTGGATAACACAGTGAAACTCCGTCTCTACTAAAAATAC AAAAAAATAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCC ATCTCAAAAAAAAAAAAAAAAAAAAAAAAATATCATCTAGG	ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	11/13			chr20	TogoVar
EXOC4_chr7_133248078_134070761	133557343	T T	TTTTGTTT others(310): Show TTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	102	0.0098	317	c.141 others(338): Show c.1418-72693_1418-72692insTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTGTTTTT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72777778	T T	TAAAGATG others(310): Show TAAAGATGTAATTTATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0008 a0001c0006t0010g0008	1	104	0.0096	317	c.114 others(336): Show c.114-36310_114-36309insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCATAAATTACATCTTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	1/21			chr2	TogoVar
F10_chr13_113117799_113154529	113154196	G G	GAGGCGGG others(310): Show GAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGG CGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCG GGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGG GCGCGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCG TGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACG TGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGG AGGCGGGGCGCGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0241 a0001c0002t0001g0241	1	412	0.0024	317	c.46 others(328): Show c.4679_*4680insAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAG GAGGGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAG GGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGG CGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCG TGGGGGGGCGGGCCGTGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGG GAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGA GGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGGA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4668		chr13	TogoVar
FAF1_chr1_50432028_50965267	50446976	T T	TCCCTAAT others(310): Show TCCCTAATAATTTTCTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACTGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0061 a0001c0001t0037g0061	1	190	0.0053	317	c.187 others(336): Show c.1870-5454_1870-5453insGGCCGGGCGCAGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAGAAAGAAAATTATTAGGG	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	18/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50446976	T T	TCCCTAAT others(310): Show TCCCTAATAATTTTCTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACTGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0078 a0001c0001t0022g0078	1	190	0.0053	317	c.187 others(336): Show c.1870-5454_1870-5453insGGCCGGGCGCAGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAGAAAGAAAATTATTAGGG	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	18/18			chr1	TogoVar
FAM168A_chr11_73395487_73603112	73565588	C C	CAAGATAA others(310): Show CAAGATAAAAGGAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp2 HG02723.hp2 others(12): Show HG02451.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03139.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 others(12): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019	15	180	0.0833	317	c.-19 others(336): Show c.-19+32334_-19+32335insTATTTATTTATTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTTTCCTTTTATCTT	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7			chr11	TogoVar
FASTKD1_chr2_169523508_169578865	169578493	C C	CAAAAAAA others(310): Show CAAAAAAAAAAAAAAAATTAAGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA20129.hp2 NA20300.hp1 NA18906.hp2 NA20129.hp2 NA20300.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0274 a0002c0004t0005g0275 a0002c0004t0005g0280 a0002c0004t0005g0274 a0002c0004t0005g0275 a0002c0004t0005g0280	3	392	0.0077	317	c.-49 others(328): Show c.-4968_-4967insTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCTTAATTTTTTTTTTTTTTTT	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding		4629		chr2	TogoVar
FBXO34_chr14_55266421_55358611	55331803	T T	TATATATA others(310): Show TATATATATATATACACCACCGTGGTGTATATATAAAAATATATATATAC ACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTAT ATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATA TATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGG TGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAAT ATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCAC CGTGGTGTATATATAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0317 a0001c0001t0007g0317	1	334	0.0030	317	c.-10 others(336): Show c.-10-18567_-10-18566insTACACCACCGTGGTGTATATATAAAA ATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACC ACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATA TAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGT ATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATA TATATACACCACCGTGGTGTATATATAAAAATATATATATA	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(310): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCG GACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCT GCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCC TCGGCCTCCCAAAGTGCT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02145.hp1 HG04228.hp2 HG02056.hp2 HG02145.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0237 a0001c0003t0001g0021 a0001c0003t0001g0031 a0001c0001t0002g0237 a0001c0003t0001g0021 a0001c0003t0001g0031	3	370	0.0081	317	c.189 others(336): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGATTT	FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
FMO5_chr1_147181261_147230339	147186626	T T	TAAAGACA others(310): Show TAAAGACATACAAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCCAAA AAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01099.hp1 HG01109.hp2 HG02486.hp1 others(6): Show HG01099.hp1 HG01109.hp2 HG02486.hp1 HG02717.hp1 HG03654.hp2 HG03831.hp1 HG03927.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0006 a0001c0002t0003 a0001c0002t0006	a0001c0002t0003g0017 a0001c0002t0003g0025 a0001c0002t0003g0047 others(3): Show a0001c0002t0003g0017 a0001c0002t0003g0025 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0053 a0001c0002t0006g0049	9	406	0.0222	317	c.27 others(326): Show c.273_*274insTTTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACTGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCCTTTGTATGTCTTT	FMO5	ENSG00000131781.13	transcript	ENST00000254090.9	protein_coding	9/9	273		chr1	TogoVar
FRAS1_chr4_78052323_78549269	78368280	T T	TTCTAATG others(310): Show TTCTAATGAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC TCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTT TTTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGA CCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03486.hp1 HG02572.hp2 HG03486.hp1	a0006 a0072 a0006 a0072	a0006c0099 a0072c0098 a0006c0099 a0072c0098	a0006c0099t0007 a0072c0098t0031 a0006c0099t0007 a0072c0098t0031	a0006c0099t0007g0166 a0072c0098t0031g0159 a0006c0099t0007g0166 a0072c0098t0031g0159	2	178	0.0112	317	c.272 others(336): Show c.2723-1543_2723-1542insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAG CCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGC TAATTTTTTTTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGA TCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAAGCGTGAGCCACCGCGCCCGGCCTCTAATGAATGTTTT	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	22/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
FREM2_chr13_38682077_38892131	38878389	T T	TAAAAACA others(310): Show TAAAAACAAGGCTGGCCGGGCGCGGTGGCTCACGCCTGTAGTCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACCACACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0167 a0001c0001t0023g0167	1	262	0.0038	317	c.885 others(332): Show c.8859+82_8859+83insCCGGGCGCGGTGGCTCACGCCTGTAGTCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA ATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACCACACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAACAAGGCTGG	FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
FREM2_chr13_38682077_38892131	38878389	T T	TAAAAACA others(310): Show TAAAAACAAGGCTGGCCGGGCGCGGTGGCTCACGCCTGTAGTCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00735.hp1 HG01070.hp1 others(45): Show HG00558.hp1 HG00735.hp1 HG01070.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01516.hp2 HG01517.hp1 HG01943.hp2 HG01993.hp1 HG02004.hp1 HG02071.hp1 HG02155.hp1 HG02155.hp2 HG02280.hp2 HG02886.hp2 HG02922.hp1 HG03486.hp2 HG03492.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 NA18953.hp1 NA18955.hp2 NA18960.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18992.hp2 NA19002.hp1 NA19003.hp2 NA19009.hp1 NA19010.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19087.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0044	a0001c0001 a0001c0002 a0001c0012 others(16): Show a0001c0001 a0001c0002 a0001c0012 a0001c0029 a0001c0067 a0002c0006 a0002c0008 a0002c0010 a0002c0027 a0002c0036 a0002c0077 a0003c0005 a0003c0078 a0004c0007 a0004c0089 a0005c0014 a0008c0050 a0009c0028 a0044c0084	a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 others(24): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 a0001c0001t0027 a0001c0001t0028 a0001c0002t0001 a0001c0012t0019 a0001c0029t0001 a0001c0029t0025 a0001c0067t0001 a0002c0006t0001 a0002c0006t0013 a0002c0008t0001 a0002c0010t0001 a0002c0027t0001 a0002c0036t0007 a0002c0077t0009 a0003c0005t0001 a0003c0005t0024 a0003c0078t0001 a0004c0007t0001 a0004c0007t0018 a0004c0089t0001 a0005c0014t0001 a0008c0050t0001 a0009c0028t0001 a0044c0084t0009	a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0155 others(45): Show a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0007g0174 a0001c0001t0013g0202 a0001c0001t0027g0110 a0001c0001t0028g0056 a0001c0002t0001g0135 a0001c0012t0019g0259 a0001c0029t0001g0149 a0001c0029t0025g0003 a0001c0067t0001g0182 a0002c0006t0001g0030 a0002c0006t0001g0033 a0002c0006t0001g0079 a0002c0006t0001g0096 a0002c0006t0013g0032 a0002c0008t0001g0208 a0002c0008t0001g0212 a0002c0008t0001g0220 a0002c0010t0001g0026 a0002c0027t0001g0021 a0002c0027t0001g0027 a0002c0027t0001g0029 a0002c0036t0007g0017 a0002c0036t0007g0024 a0002c0077t0009g0139 a0003c0005t0001g0072 a0003c0005t0024g0062 a0003c0078t0001g0019 a0004c0007t0001g0013 a0004c0007t0001g0014 a0004c0007t0001g0043 a0004c0007t0001g0046 a0004c0007t0001g0047 a0004c0007t0018g0039 a0004c0089t0001g0239 a0005c0014t0001g0025 a0008c0050t0001g0123 a0009c0028t0001g0146 a0009c0028t0001g0148 a0044c0084t0009g0197	48	262	0.1832	317	c.885 others(332): Show c.8859+82_8859+83insCCGGGCGCGGTGGCTCACGCCTGTAGTCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA ATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAACAAGGCTGG	FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr13	TogoVar

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