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
CHST13_chr3_126519155_126548291	126539874	C C	CACACACC others(445): Show CACACACCCCAAACCACACATGGACCCTCCACACACCACACACACACCAC ACATTCCACACAAGCACACTACACCACACAAGCACACCACACGCATACCA CACAAAAATGCCACACATTCCCACACACCACAAACACACCACCCACATGA CACACACTACACACACACCACACACCATATATGCCACACACAACACACAC AACACACGCTACACACACACCCCATACACACACACCACACACACCAGACA CACACAAACACCACACACACCAGACACAACACACAACACACACACACCAC AGGTGTGCACCACACACACACCACATGCACACAGACATACCACCTACCAA AAGTGTGCACCACACGCACCACGTGCATACCAACACACACCACACACACC ATACAGACACACCACACACACACCACACACACTCCATACACATACAACAC ACA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	364	0.0028	452	c.181 others(469): Show c.181-1853_181-1852insCCCAAACCACACATGGACCCTCCACACA CCACACACACACCACACATTCCACACAAGCACACTACACCACACAAGCAC ACCACACGCATACCACACAAAAATGCCACACATTCCCACACACCACAAAC ACACCACCCACATGACACACACTACACACACACCACACACCATATATGCC ACACACAACACACACAACACACGCTACACACACACCCCATACACACACAC CACACACACCAGACACACACAAACACCACACACACCAGACACAACACACA ACACACACACACCACAGGTGTGCACCACACACACACCACATGCACACAGA CATACCACCTACCAAAAGTGTGCACCACACGCACCACGTGCATACCAACA CACACCACACACACCATACAGACACACCACACACACACCACACACACTCC ATACACATACAACACACAACACAC	CHST13	ENSG00000180767.11	transcript	ENST00000319340.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL19A1_chr6_69861556_70217468	69920979	T T	TGATATAT others(445): Show TGATATATATCATATATACATATGATATATACATGATATATATGATATAT ATGATACATATGATATATATGATATATATATGATACAAATGATATATATG ATATATATGATATATATCAGATATATATATCATATATATCATATATATCA TTTGTATCATATATATATCATATATATCATATGTATCATATATATCATAT ATATCATGTATATATCATATATATCATATATGTATTCATATATATCATAT ATTCATATATAATATATATTCATATATCATATATATTCATATATATCATA TAAATTCATATATCATATATATTCATATATATCATATATATTCATATATA TATCATATATATTCATATATATCATATATATTCATATATATATCATATAT ATTCATATATATCATATATATTCATATATATATCATATATATTCATATAT ATA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0021 a0002c0003t0021	a0002c0003t0021g0015 a0002c0003t0021g0015	1	182	0.0055	452	c.267 others(469): Show c.267-6930_267-6929insGATATATATCATATATACATATGATATA TACATGATATATATGATATATATGATACATATGATATATATGATATATAT ATGATACAAATGATATATATGATATATATGATATATATCAGATATATATA TCATATATATCATATATATCATTTGTATCATATATATATCATATATATCA TATGTATCATATATATCATATATATCATGTATATATCATATATATCATAT ATGTATTCATATATATCATATATTCATATATAATATATATTCATATATCA TATATATTCATATATATCATATAAATTCATATATCATATATATTCATATA TATCATATATATTCATATATATATCATATATATTCATATATATCATATAT ATTCATATATATATCATATATATTCATATATATCATATATATTCATATAT ATATCATATATATTCATATATATA	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098162	T T	TATATATA others(445): Show TATATATATAAATATATATAAATATATAACTATATAAATAAATATATATA AATATATAAATATATAAAAATATATATAAATATATATGTAAATATATAAA TATATATAAATATATATAAATATATATAAGTATATAAATATATATATAAA TATATATAAGTATATAAATATATATATAAATATATATAAGTATATAAATA TATATAAATATATATAAGTATATAAATATATATATAAATATATATAAGTA TATATAAATATATATAAATATATATAAGTATATATAAATATATAAAAATA TATATAAGTATATATAAATATATATAAATATATATAAATATATGCAAATA TATATAAATATATATAAATAGATATATAAATAGATATAAATAGATATAAA TAGATATATAAATACATATATAAATAGATATAAATACATATATAAATATA TAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA18747.hp2 HG03017.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0235 a0001c0001t0009g0039 a0001c0001t0005g0235 a0001c0001t0009g0039	2	264	0.0076	452	c.181 others(471): Show c.1812+3309_1812+3310insTTATATATTTATATATGTATTTATAT CTATTTATATATGTATTTATATATCTATTTATATCTATTTATATCTATTT ATATATCTATTTATATATATTTATATATATTTGCATATATTTATATATAT TTATATATATTTATATATACTTATATATATTTTTATATATTTATATATAC TTATATATATTTATATATATTTATATATACTTATATATATTTATATATAT ATTTATATACTTATATATATTTATATATATTTATATACTTATATATATTT ATATATATATTTATATACTTATATATATTTATATATATATTTATATACTT ATATATATTTATATATATTTATATATATTTATATATTTACATATATATTT ATATATATTTTTATATATTTATATATTTATATATATTTATTTATATAGTT ATATATTTATATATATTTATATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098174	T T	TATATATA others(445): Show TATATATAAATATATATAAATATATAACTATATAAATAAATATATATAAA TATATAAATATATAAAAATATATATAAATATATATGTAAATATATAAATA TATATAAATATATATAAATATATATAAGTATATAAATATATATAAATATA TATAAGTATATAAATATATATATAAATATATATAAGTATATAAATATATA TATAAATATATATAAGTATATAAATATATATAAATATATATAAGTATATA AATATATATATAAATATATATAAGTATATATAAATATATATAAATATATA TAAGTATATATAAATATATAAAAATATATATAAGTATATATAAATATATA TAAATATATATAAATATATGCAAATATATATAAATATATATAAATAGATA TATAAATAGATATAAATAGATATAAATAGATATATAAATACATATATAAA TAG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0001 a0013c0020t0001	a0013c0020t0001g0181 a0013c0020t0001g0181	1	264	0.0038	452	c.181 others(471): Show c.1812+3297_1812+3298insCTATTTATATATGTATTTATATATCT ATTTATATCTATTTATATCTATTTATATATCTATTTATATATATTTATAT ATATTTGCATATATTTATATATATTTATATATATTTATATATACTTATAT ATATTTTTATATATTTATATATACTTATATATATTTATATATATTTATAT ATACTTATATATATTTATATATATATTTATATACTTATATATATTTATAT ATATTTATATACTTATATATATTTATATATATATTTATATACTTATATAT ATTTATATATATATTTATATACTTATATATATTTATATATATTTATATAC TTATATATATTTATATATATTTATATATATTTATATATTTACATATATAT TTATATATATTTTTATATATTTATATATTTATATATATTTATTTATATAG TTATATATTTATATATATTTATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL5A1_chr9_134636803_134849843	134729517	T T	TGTGTGTG others(445): Show TGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGCGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTG TGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCA CGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATG CGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTG TGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTG AGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02145.hp1 others(5): Show HG01243.hp1 HG01884.hp2 HG02145.hp1 HG02723.hp2 HG02922.hp1 HG03139.hp2 HG03471.hp2 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0007 a0001c0026 others(1): Show a0001c0005 a0001c0007 a0001c0026 a0001c0050	a0001c0005t0045 a0001c0007t0001 a0001c0007t0004 others(5): Show a0001c0005t0045 a0001c0007t0001 a0001c0007t0004 a0001c0007t0006 a0001c0007t0017 a0001c0026t0006 a0001c0026t0041 a0001c0050t0004	a0001c0005t0045g0267 a0001c0007t0001g0195 a0001c0007t0004g0028 others(5): Show a0001c0005t0045g0267 a0001c0007t0001g0195 a0001c0007t0004g0028 a0001c0007t0006g0002 a0001c0007t0017g0241 a0001c0026t0006g0101 a0001c0026t0041g0036 a0001c0050t0004g0034	8	272	0.0294	452	c.925 others(467): Show c.925-674_925-673insCGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTG AGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCDC2_chr6_24166755_24363059	24238179	A A	AGGGAGGA others(445): Show AGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGAAT GGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGG GAGGGTGAGGGGAGGGGAAGGGTGAGGGGAGGGGGAGGGGAGTGGAAGGG GGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGTG GAAGGGGGAGGGGGAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0109 a0002c0002t0003g0109	1	216	0.0046	452	c.923 others(471): Show c.923-33078_923-33077insCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCC CTCCCCCTCCCCTCCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCC CCTCACCCTTCCCCTCCCCTCACCCTCCCCTCCCCCTCCCCATCCCTCCA TTCCTCCATTCCTCCCTCCCTCCCTCCATTCCTTCCTCCCTCCCTCCCTT CATTCCTCCCTCCCTCCCTTCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DIDO1_chr20_62872743_62931505	62875320	C C	CCACCCCC others(445): Show CCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCGC ACCCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCCGACCCCCACCCGCACCCCCACCCCCACCC CCACCCGCACCCGCACCCCCACCCGCACCCGCACCCGCACCCCCACCCCC ACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCCACCCCCACCCGCACCCCCACCCCCACCCCCCACCCCCAC CCGCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCC CCACCCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCC ACCCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCAC CCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0013 a0005c0005t0013	a0005c0005t0013g0162 a0005c0005t0013g0162	1	320	0.0031	452	c.39 others(463): Show c.3912_*3913insCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTG GGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGG GGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGGTGGGGGTGGGGGTGCGG GTGGGGGTGGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTCGG GGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGCGGGTG GGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2422		chr20	TogoVar
DIP2C_chr10_269201_694668	478370	A A	AGAAGAAG others(445): Show AGAAGAAGGGAGTGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGAAG AAGGGAGAAGAAGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAAGGGAGGGGAAGGG AGGGGAGAGGAGGAGAGAAGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCG GAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAG GGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCG GGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCG GAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGGGCG GGGCGGGGCGGGGCGGGGGAGGGGAGGGGCAGACGGGGAGGGGAGGGGCA GAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0003 a0001c0022t0003	a0001c0022t0003g0002 a0001c0022t0003g0002	1	88	0.0114	452	c.158 others(469): Show c.158-5822_158-5821insGTCTGCCCCTCCCCTCCCCGTCTGCCCC TCCCCTCCCCCGCCCCGCCCCGCCCCGCCCCGCCCCGCCCCTCTCCGCCC CGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCC CTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTC CGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCC CGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCC CTCTCCTTCTCTCCTCCTCTCCCCTCCCTTCCCCTCCCTTCCTCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCTTCTTCTCCCTTCTTCTCCCTTCTTCTCCCTTCTTCTCCCCTCCCCT CCCCTCCCCTCCACTCCCTTCTTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1097901	C C	CACTCAGT others(445): Show CACTCAGTAGAGTGGAGCTGGGAGCCCCGGGGCAGGCCTTCACCCTCTGT GGCATGGAGAGGTCCCCTCCAGTGTGAGACCCACCTCCCTGCACTCAGTA GAGTGGAGCTGGGAGCCCCGGGGCAGGCCTTCACCCTCTGTGGCATGGAG AGGTCCCCTCCAGCGTGAGACCCAGCTCCCTCTGCTCAGGAGAGTCGAGC TGGGAGCCCGGGGCAGGCCTTCACCCTCTGTGGCATGGAGAGGTCTCCTC CAGTGTGAGACCCACCTCCCTGTGCTCAGGAGAGTCTAGCTGGGAGCCCG GGGCAGGCCTTCACCCTCTGTGGCATGGAGAGGTCCCCTCCAGCGTGAGA CCCAGCTCCCTCTGCTCAGGAGAGTCGAGCTGGGAGCCCGGGGCAGGCCT TCGCCCTCTGTGGCATGGAGAGGTCTCCTCCAGTGTGAGACCCACCTCCC TGT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02818.hp2 HG03486.hp1 others(1): Show HG02698.hp2 HG02818.hp2 HG03486.hp1 HG03710.hp1	a0002 a0002	a0002c0001 a0002c0004 a0002c0006 a0002c0001 a0002c0004 a0002c0006	a0002c0001t0003 a0002c0001t0005 a0002c0004t0018 others(1): Show a0002c0001t0003 a0002c0001t0005 a0002c0004t0018 a0002c0006t0021	a0002c0001t0003g0022 a0002c0001t0005g0035 a0002c0004t0018g0010 others(1): Show a0002c0001t0003g0022 a0002c0001t0005g0035 a0002c0004t0018g0010 a0002c0006t0021g0014	4	40	0.1000	452	c.74- others(471): Show c.74-160950_74-160949insACTCAGTAGAGTGGAGCTGGGAGCCC CGGGGCAGGCCTTCACCCTCTGTGGCATGGAGAGGTCCCCTCCAGTGTGA GACCCACCTCCCTGCACTCAGTAGAGTGGAGCTGGGAGCCCCGGGGCAGG CCTTCACCCTCTGTGGCATGGAGAGGTCCCCTCCAGCGTGAGACCCAGCT CCCTCTGCTCAGGAGAGTCGAGCTGGGAGCCCGGGGCAGGCCTTCACCCT CTGTGGCATGGAGAGGTCTCCTCCAGTGTGAGACCCACCTCCCTGTGCTC AGGAGAGTCTAGCTGGGAGCCCGGGGCAGGCCTTCACCCTCTGTGGCATG GAGAGGTCCCCTCCAGCGTGAGACCCAGCTCCCTCTGCTCAGGAGAGTCG AGCTGGGAGCCCGGGGCAGGCCTTCGCCCTCTGTGGCATGGAGAGGTCTC CTCCAGTGTGAGACCCACCTCCCTGT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
DPEP1_chr16_89608642_89643433	89635163	C C	CTCCTTTC others(445): Show CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCCTTCCT TCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	250	0.0040	452	c.105 others(467): Show c.105-745_105-744insTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCCTTC CTTCTCCTTTCCCCTTCCTTCT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
EEF1A2_chr20_63483014_63504083	63492360	G G	GGATGGAT others(445): Show GGATGGATAGAGAGAAGGATGGATGGGTGGGGAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATAGAGAGAAGGATGGATGGTTGAGA CAATGGATGGATGGATGGATGGATGGAGAGATGGATGGATGGATGGATGG ACAGAAGGATGGATGGGTGGGGAGGTGGATGGATGGATTGAAGGATGGAC GGGTGGGGAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ACAGAAGGATGTATGGGTGGGGAGGTGGGTGGATAGATGGATGGATGGAT GGATGGGGAAATGGATGGATGGAAGGATGGATGGATAGGGAGGTGGGTGG ATGGATGGATGGATGGATGTACAGAAGGATGGATGGGTGGGGAGGTGGGT GAGTGGATGAATGGATGGATGGATAGATAGAAGGATGGATGGGTGGGACA ACA	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA19240.hp1 HG02738.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0150 a0001c0002t0001g0211 a0001c0002t0001g0150 a0001c0002t0001g0211	2	374	0.0054	452	c.772 others(467): Show c.772+776_772+777insTGTTGTCCCACCCATCCATCCTTCTATCTA TCCATCCATCCATTCATCCACTCACCCACCTCCCCACCCATCCATCCTTC TGTACATCCATCCATCCATCCATCCACCCACCTCCCTATCCATCCATCCT TCCATCCATCCATTTCCCCATCCATCCATCCATCCATCTATCCACCCACC TCCCCACCCATACATCCTTCTGTCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCTCCCCACCCGTCCATCCTTCAATCCATCCATCCACC TCCCCACCCATCCATCCTTCTGTCCATCCATCCATCCATCCATCTCTCCA TCCATCCATCCATCCATCCATTGTCTCAACCATCCATCCTTCTCTCTATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTCCCCACCCA TCCATCCTTCTCTCTATCCATC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EVC2_chr4_5557439_5713559	5706405	G G	GATACATA others(445): Show GATACATAGATAGATACATAGATACATAGATAGACAGATAGATAGATACA TAGATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATACATA GATAGATAGATACATAGATAGATACATAGATAGATAGATAGATAGATAGA TAGATAGATACATAGATACATACATAGATAGATAGATACATACATACATA CATACATACATACATAGATACAGATAGATAGATACATAGATACATAGATA CATAGATAGATAGATACATACATACATACATACATAGATACATAGATAGA TAGATAGATACATAGATAGATAGATACATAGATACATACATAGATAGATA GATACATAGATAGATAGATAGATAGATACATAGATACATAGATAGATAGA TACATAGATAGATAGACACATAGATAGATACATAGATAGATAGATAGATA CAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	292	0.0034	452	c.228 others(469): Show c.228+1880_228+1881insATGTATCTATCTATCTATCTATGTATCT ATCTATGTGTCTATCTATCTATGTATCTATCTATCTATGTATCTATGTAT CTATCTATCTATCTATCTATGTATCTATCTATCTATGTATGTATCTATGT ATCTATCTATCTATGTATCTATCTATCTATCTATGTATCTATGTATGTAT GTATGTATGTATCTATCTATCTATGTATCTATGTATCTATGTATCTATCT ATCTGTATCTATGTATGTATGTATGTATGTATGTATGTATCTATCTATCT ATGTATGTATCTATGTATCTATCTATCTATCTATCTATCTATCTATCTAT GTATCTATCTATGTATCTATCTATCTATGTATCTATCTATCTATCTATCT ATGTATCTATCTATCTATCTATCTATGTATCTATCTATCTGTCTATCTAT GTATCTATGTATCTATCTATGTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	1/21			chr4	TogoVar
GALR1_chr18_77244848_77282900	77259304	G G	GATGGTCA others(445): Show GATGGTCATGGTGGTGATGATGGTGATCATGGTGGTGATGGTGGTGATGG TGGCGATTGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGGTAGTGAT GGTGGTGGTGGTCATAGGGGTGGTGGTGATGGTGGTGATGATGGTGGTCA TGGCAGTGATGGTGATGGTGGCGATTGTGATGGTGATGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTCATAGTGGTGGTGGTGCTGGTGATGGTGGT GATGGTGGTGGTGATGGTGGTGATGATGGTGGTCATAGTGGTGATGGTGG TGGTGATGGTGGTGATGTTGGTGGTGATGGTGGTGATGATGGTGGTCATA GTGGTGATGATGGTGGTGATGGTGGTGATGTTGGTGGTGATGGTGGTGAT GATGGTGGTCATAGTGGTGATGGTGGTGGGCGGTAGTGGTGGTGATGATG GTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0117 a0002c0006t0117	a0002c0006t0117g0314 a0002c0006t0117g0314	1	366	0.0027	452	c.732 others(469): Show c.732+3086_732+3087insCATGGTGGTGATGATGGTGATCATGGTG GTGATGGTGGTGATGGTGGCGATTGTGATGGTGATGGTGGTGGTGGTGAT GGTGGTGGGTAGTGATGGTGGTGGTGGTCATAGGGGTGGTGGTGATGGTG GTGATGATGGTGGTCATGGCAGTGATGGTGATGGTGGCGATTGTGATGGT GATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTCATAGTGGTGGTGG TGCTGGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGATGATGGTGGTC ATAGTGGTGATGGTGGTGGTGATGGTGGTGATGTTGGTGGTGATGGTGGT GATGATGGTGGTCATAGTGGTGATGATGGTGGTGATGGTGGTGATGTTGG TGGTGATGGTGGTGATGATGGTGGTCATAGTGGTGATGGTGGTGGGCGGT AGTGGTGGTGATGATGGTCATGGT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GLIS1_chr1_53501239_53744164	53525463	A A	AGGCTGGG others(445): Show AGGCTGGGGAGACTGGGGAGGTTGGGGGTGCTGGGAGTCTGGGGAGGCTG GGGAGGTGGGGGGCTGGGGAGGCTGGGGAGGTGGAGGCTGGGGAGGTGGG GAGGCTGGGGGCTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGGCTGGGG AGGCTGGGGAGGTGGGGGGCTGGGAAGGCTGGGGAGGTGGGGGGCTAAGA AGGCTGGGGGGCTGGGGTGCTGGGGAGGCTGGGGAGGTGGGGGCTGGGGA GGCTGGGGGGCTGGGGCGCTGGGGAGGCTGGGGAGGCTGGGGGTGCTGGG CAGGCTGAGGAGGTGGGGAGGCTGGGGGAGCAAGGGGTGGGGGAGGTAGG GAGGCTGGGGAGGCTGGGGGCGGGGGAGTCTGGGGAGGCTGGGGGGGTGG GGGGCTAGGAGGTGGGGGAGGCGGGGAGGCTGGGGAGGCTGGGGGGGCTG GGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG01891.hp2 others(16): Show HG01109.hp2 HG01884.hp2 HG01891.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03225.hp1 HG03486.hp2 HG03540.hp1 HG06807.hp2 NA18522.hp1 NA19240.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0007 a0007c0008 a0008c0011	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(11): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0018 a0002c0002t0004 a0002c0002t0005 a0002c0002t0010 a0003c0003t0004 a0004c0004t0003 a0004c0004t0009 a0006c0007t0007 a0006c0007t0009 a0007c0008t0007 a0008c0011t0010	a0001c0001t0002g0096 a0001c0001t0002g0133 a0001c0001t0004g0229 others(16): Show a0001c0001t0002g0096 a0001c0001t0002g0133 a0001c0001t0004g0229 a0001c0001t0005g0097 a0001c0001t0018g0212 a0002c0002t0004g0093 a0002c0002t0005g0094 a0002c0002t0010g0102 a0002c0002t0010g0206 a0003c0003t0004g0131 a0003c0003t0004g0132 a0004c0004t0003g0018 a0004c0004t0003g0038 a0004c0004t0009g0020 a0006c0007t0007g0032 a0006c0007t0007g0035 a0006c0007t0009g0051 a0007c0008t0007g0055 a0008c0011t0010g0099	19	236	0.0805	452	c.148 others(469): Show c.1483-577_1483-576insCCCCAGCCCCCCCAGCCTCCCCAGCCTC CCCGCCTCCCCCACCTCCTAGCCCCCCACCCCCCCAGCCTCCCCAGACTC CCCCGCCCCCAGCCTCCCCAGCCTCCCTACCTCCCCCACCCCTTGCTCCC CCAGCCTCCCCACCTCCTCAGCCTGCCCAGCACCCCCAGCCTCCCCAGCC TCCCCAGCGCCCCAGCCCCCCAGCCTCCCCAGCCCCCACCTCCCCAGCCT CCCCAGCACCCCAGCCCCCCAGCCTTCTTAGCCCCCCACCTCCCCAGCCT TCCCAGCCCCCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCCCCAGCCT CCCCAGCCCCCCAGCCCCCAGCCTCCCCACCTCCCCAGCCTCCACCTCCC CAGCCTCCCCAGCCCCCCACCTCCCCAGCCTCCCCAGACTCCCAGCACCC CCAACCTCCCCAGTCTCCCCAGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	5/10			chr1	TogoVar
GLIS1_chr1_53501239_53744164	53525463	A A	AGGCTGGG others(445): Show AGGCTGGGGAGGCTGGGGAGGTTGGGGGTGCTGGGAGTCTGGGGAGGCTG GGGAGGTGGGGGGCTGGGGAGGCTGGGGAGGTGGAGGCTGGGGAGGTGGG GAGGCTGGGGGCTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGGCTGGGG AGGCTGGGGAGGTGGGGGGCTGGGAAGGCTGGGGAGGTGGGGGGCTAAGA AGGCTGGGGGGCTGGGGTGCTGGGGAGGCTGGGGAGGTGGGGGCTGGGGA GGCTGGGGGGCTGGGGCGCTGGGGAGGCTGGGGACGCTGGGGGTGCTGGG CAGGCTGAGGAGGTGGGGAGGCTGGGGGAGCAAGGGGTGGGGGAGGTAGG GAGGCTGGGGAGGCTGGGGGCGGGGGAGTCTGGGGAGGCTGGGGGGGTGG GGGGCTAGGAGGTGGGGGAGGCGGGGAGGCTGGGGAGGCTGGGGGGGCTG GGG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0127 a0002c0006t0001g0127	1	236	0.0042	452	c.148 others(469): Show c.1483-577_1483-576insCCCCAGCCCCCCCAGCCTCCCCAGCCTC CCCGCCTCCCCCACCTCCTAGCCCCCCACCCCCCCAGCCTCCCCAGACTC CCCCGCCCCCAGCCTCCCCAGCCTCCCTACCTCCCCCACCCCTTGCTCCC CCAGCCTCCCCACCTCCTCAGCCTGCCCAGCACCCCCAGCGTCCCCAGCC TCCCCAGCGCCCCAGCCCCCCAGCCTCCCCAGCCCCCACCTCCCCAGCCT CCCCAGCACCCCAGCCCCCCAGCCTTCTTAGCCCCCCACCTCCCCAGCCT TCCCAGCCCCCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCCCCAGCCT CCCCAGCCCCCCAGCCCCCAGCCTCCCCACCTCCCCAGCCTCCACCTCCC CAGCCTCCCCAGCCCCCCACCTCCCCAGCCTCCCCAGACTCCCAGCACCC CCAACCTCCCCAGCCTCCCCAGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	5/10			chr1	TogoVar
GLIS1_chr1_53501239_53744164	53525463	A A	AGGCTGGG others(445): Show AGGCTGGGGAGGCTGGGGAGGTTGGGGGTGCTGGGAGTCTGGGGAGGCTG GGGAGGTGGGGGGCTGGGGAGGCTGGGGAGGTGGAGGCTGGGGAGGTGGG GAGGCTGGGGGCTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGGCTGGGG AGGCTGGGGAGGTGGGGGGCTGGGAAGGCTGGGGAGGTGGGGGGCTAAGA AGGCTGGGGGGCTGGGGTGCTGGGGAGGCTGGGGAGGTGGGGGCTGGGGA GGCTGGGGGGCTGGGGCGCTGGGGAGGCTGGGGAGGCTGGGGGTGCTGGG CAGGCTGAGGAGGTGGGGAGGCTGGGGGAGCAAGGGGTGGGGGAGGTAGG GAGGCTGGGGAGGCTGGGGGCGGGGGAGTCTGGGGAGGCTGGGGGGGTGG GGGGCTAGGAGGTGGGGGAGGCGGGGAGGCTGGGGAGGCTGGGGGGGCTG GGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG01123.hp2 others(39): Show HG00544.hp2 HG00621.hp2 HG01123.hp2 HG01515.hp1 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG02056.hp1 HG02083.hp1 HG02148.hp1 HG02155.hp1 HG02523.hp1 HG02896.hp2 HG04199.hp2 HG04228.hp1 NA18906.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18985.hp2 NA18986.hp1 NA18990.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19009.hp1 NA19043.hp2 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA20905.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0007 a0011 a0028	a0001c0001 a0001c0005 a0002c0002 others(11): Show a0001c0001 a0001c0005 a0002c0002 a0002c0006 a0002c0035 a0002c0036 a0002c0037 a0003c0003 a0003c0010 a0005c0013 a0006c0007 a0007c0008 a0011c0040 a0028c0024	a0001c0001t0002 a0001c0001t0017 a0001c0005t0001 others(20): Show a0001c0001t0002 a0001c0001t0017 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0005t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0006t0001 a0002c0006t0002 a0002c0035t0004 a0002c0036t0002 a0002c0037t0001 a0003c0003t0001 a0003c0010t0001 a0003c0010t0002 a0005c0013t0006 a0005c0013t0007 a0006c0007t0004 a0007c0008t0008 a0011c0040t0002 a0028c0024t0006	a0001c0001t0002g0104 a0001c0001t0002g0217 a0001c0001t0017g0118 others(39): Show a0001c0001t0002g0104 a0001c0001t0002g0217 a0001c0001t0017g0118 a0001c0005t0001g0056 a0001c0005t0001g0126 a0001c0005t0001g0128 a0001c0005t0001g0146 a0001c0005t0001g0167 a0001c0005t0001g0216 a0001c0005t0001g0218 a0001c0005t0001g0223 a0001c0005t0002g0105 a0001c0005t0002g0191 a0001c0005t0004g0166 a0001c0005t0005g0195 a0002c0002t0001g0109 a0002c0002t0002g0106 a0002c0002t0002g0156 a0002c0002t0004g0130 a0002c0006t0001g0117 a0002c0006t0001g0151 a0002c0006t0001g0165 a0002c0006t0002g0063 a0002c0006t0002g0072 a0002c0006t0002g0107 a0002c0035t0004g0074 a0002c0036t0002g0075 a0002c0037t0001g0069 a0003c0003t0001g0163 a0003c0003t0001g0207 a0003c0010t0001g0175 a0003c0010t0001g0179 a0003c0010t0002g0070 a0003c0010t0002g0124 a0003c0010t0002g0158 a0003c0010t0002g0235 a0005c0013t0006g0024 a0005c0013t0007g0022 a0006c0007t0004g0091 a0007c0008t0008g0027 a0011c0040t0002g0078 a0028c0024t0006g0007	42	236	0.1780	452	c.148 others(469): Show c.1483-577_1483-576insCCCCAGCCCCCCCAGCCTCCCCAGCCTC CCCGCCTCCCCCACCTCCTAGCCCCCCACCCCCCCAGCCTCCCCAGACTC CCCCGCCCCCAGCCTCCCCAGCCTCCCTACCTCCCCCACCCCTTGCTCCC CCAGCCTCCCCACCTCCTCAGCCTGCCCAGCACCCCCAGCCTCCCCAGCC TCCCCAGCGCCCCAGCCCCCCAGCCTCCCCAGCCCCCACCTCCCCAGCCT CCCCAGCACCCCAGCCCCCCAGCCTTCTTAGCCCCCCACCTCCCCAGCCT TCCCAGCCCCCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCCCCAGCCT CCCCAGCCCCCCAGCCCCCAGCCTCCCCACCTCCCCAGCCTCCACCTCCC CAGCCTCCCCAGCCCCCCACCTCCCCAGCCTCCCCAGACTCCCAGCACCC CCAACCTCCCCAGCCTCCCCAGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	5/10			chr1	TogoVar
GLIS1_chr1_53501239_53744164	53525463	A A	AGGCTGGG others(445): Show AGGCTGGGGAGGCTGGGGAGGTTGGGGGTGCTGGGAGTCTGGGGAGGCTG GGGAGGTGGGGGGCTGGGGAGGCTGGGGAGGTGGAGGCTGGGGAGGTGGG GAGGCTGGGGGCTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGGCTGGGG AGGCTGGGGAGGTGGGGGGCTGGGAAGGCTGGGGAGGTGGGGGGCTAAGA AGGCTGGGGGGCTGGGGTGCTGGGGAGGCTGGGGAGGTGGGGGCTGGGGA GGCTGGGGGGCTGGGGCGCTGGGGAGGCTGGGGAGGCTGGGGGTGCTGGG CAGGCTGAGGAGGTGGGGAGGCTGGGGGAGCAAGGGGTGGGGGAGGTAGG GAGGCTGGGGAGGCTGGGGGCGGGGGAGTCTGGGGAGGCTGGGGGGGTGG GGGGCTAGGAGGTGGGGGAGGCGGTGAGGCTGGGGAGGCTGGGGGGGCTG GGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0007 a0007	a0007c0029 a0007c0029	a0007c0029t0003 a0007c0029t0003	a0007c0029t0003g0028 a0007c0029t0003g0028	1	236	0.0042	452	c.148 others(469): Show c.1483-577_1483-576insCCCCAGCCCCCCCAGCCTCCCCAGCCTC ACCGCCTCCCCCACCTCCTAGCCCCCCACCCCCCCAGCCTCCCCAGACTC CCCCGCCCCCAGCCTCCCCAGCCTCCCTACCTCCCCCACCCCTTGCTCCC CCAGCCTCCCCACCTCCTCAGCCTGCCCAGCACCCCCAGCCTCCCCAGCC TCCCCAGCGCCCCAGCCCCCCAGCCTCCCCAGCCCCCACCTCCCCAGCCT CCCCAGCACCCCAGCCCCCCAGCCTTCTTAGCCCCCCACCTCCCCAGCCT TCCCAGCCCCCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCCCCAGCCT CCCCAGCCCCCCAGCCCCCAGCCTCCCCACCTCCCCAGCCTCCACCTCCC CAGCCTCCCCAGCCCCCCACCTCCCCAGCCTCCCCAGACTCCCAGCACCC CCAACCTCCCCAGCCTCCCCAGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	5/10			chr1	TogoVar
GLIS1_chr1_53501239_53744164	53525463	A A	AGGCTGGG others(445): Show AGGCTGGGGAGGCTGGGGAGGTTGGGGGTGCTGGGAGTCTGGGGAGGCTG GGGAGGTGGGGGGCTGGGGAGGCTGGGGAGGTGGAGGCTGGGGAGGTGGG GAGGCTGGGGGCTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGGCTGGGG AGGCTGGGGAGGTGGGGGGCTGGGAAGGCTGGGGAGGTGGGGGGCTAAGA AGGCTGGGGGGCTGGGGTGCTGGGGAGGCTGGGGAGGTGGGGGCTGGGGA GGCTGGGGGGCTGGGGCGCTGGGGAGGCTGGGGAGGCTGGGGGTGCTGGG CAGGCTGAGGAGGTGGGGAGGCTGGGGGGGCAAGGGGTGGGGGAGGTAGG GAGGCTGGGGAGGCTGGGGGCGGGGGAGTCTGGGGAGGCTGGGGGGGTGG GGGGCTAGGAGGTGGGGGAGGCGGGGAGGCTGGGGAGGCTGGGGGGGCTG GGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(126): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01978.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp2 NA18906.hp1 NA18944.hp2 NA18945.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18970.hp2 NA18974.hp2 NA18977.hp1 NA18982.hp2 NA18986.hp2 NA18990.hp1 NA18999.hp1 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19064.hp1 NA19064.hp2 NA19079.hp1 NA19085.hp2 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(21): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0016 a0017 a0018 a0019 a0020 a0023 a0024 a0026 a0027 a0029 a0031	a0001c0001 a0002c0002 a0002c0018 others(25): Show a0001c0001 a0002c0002 a0002c0018 a0003c0003 a0003c0043 a0004c0004 a0004c0014 a0005c0009 a0006c0007 a0007c0008 a0008c0011 a0009c0012 a0010c0016 a0010c0017 a0011c0020 a0013c0015 a0014c0021 a0016c0032 a0017c0034 a0018c0033 a0019c0028 a0020c0030 a0023c0025 a0024c0038 a0026c0031 a0027c0041 a0029c0023 a0031c0046	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0018t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0016 a0003c0043t0001 a0004c0004t0003 a0004c0004t0007 a0004c0004t0009 a0004c0014t0003 a0005c0009t0003 a0005c0009t0006 a0005c0009t0007 a0005c0009t0008 a0006c0007t0003 a0006c0007t0006 a0006c0007t0009 a0006c0007t0011 a0007c0008t0003 a0007c0008t0008 a0007c0008t0012 a0007c0008t0015 a0008c0011t0002 a0008c0011t0005 a0008c0011t0013 a0009c0012t0002 a0009c0012t0005 a0010c0016t0003 a0010c0016t0014 a0010c0017t0006 a0011c0020t0004 a0011c0020t0005 a0013c0015t0011 a0014c0021t0001 a0016c0032t0001 a0017c0034t0002 a0018c0033t0002 a0019c0028t0005 a0020c0030t0008 a0023c0025t0003 a0024c0038t0004 a0026c0031t0004 a0027c0041t0002 a0029c0023t0002 a0031c0046t0002	a0001c0001t0001g0067 a0001c0001t0001g0080 a0001c0001t0001g0081 others(126): Show a0001c0001t0001g0067 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0138 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0002g0077 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0123 a0001c0001t0002g0129 a0001c0001t0002g0134 a0001c0001t0002g0142 a0001c0001t0002g0170 a0001c0001t0002g0174 a0001c0001t0002g0201 a0001c0001t0004g0082 a0001c0001t0005g0068 a0001c0001t0005g0088 a0001c0001t0005g0139 a0001c0001t0005g0160 a0001c0001t0005g0184 a0001c0001t0005g0209 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0062 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0108 a0002c0002t0001g0115 a0002c0002t0001g0155 a0002c0002t0001g0169 a0002c0002t0001g0208 a0002c0002t0001g0214 a0002c0002t0001g0222 a0002c0002t0002g0125 a0002c0002t0002g0152 a0002c0002t0002g0154 a0002c0002t0002g0189 a0002c0002t0002g0236 a0002c0002t0004g0230 a0002c0002t0005g0103 a0002c0018t0002g0143 a0003c0003t0001g0085 a0003c0003t0001g0086 a0003c0003t0001g0122 a0003c0003t0001g0141 a0003c0003t0001g0147 a0003c0003t0001g0148 a0003c0003t0001g0159 a0003c0003t0001g0162 a0003c0003t0001g0202 a0003c0003t0001g0215 a0003c0003t0002g0119 a0003c0003t0002g0190 a0003c0003t0002g0198 a0003c0003t0002g0226 a0003c0003t0002g0228 a0003c0003t0002g0234 a0003c0003t0004g0220 a0003c0003t0016g0227 a0003c0043t0001g0061 a0004c0004t0003g0009 a0004c0004t0003g0052 a0004c0004t0007g0012 a0004c0004t0007g0042 a0004c0004t0007g0053 a0004c0004t0009g0005 a0004c0004t0009g0054 a0004c0014t0003g0013 a0004c0014t0003g0017 a0005c0009t0003g0001 a0005c0009t0003g0031 a0005c0009t0006g0026 a0005c0009t0006g0030 a0005c0009t0007g0025 a0005c0009t0008g0002 a0005c0009t0008g0023 a0006c0007t0003g0036 a0006c0007t0006g0033 a0006c0007t0006g0037 a0006c0007t0009g0034 a0006c0007t0011g0008 a0007c0008t0003g0014 a0007c0008t0003g0041 a0007c0008t0008g0044 a0007c0008t0012g0021 a0007c0008t0015g0029 a0008c0011t0002g0098 a0008c0011t0005g0076 a0008c0011t0013g0193 a0009c0012t0002g0205 a0009c0012t0005g0136 a0009c0012t0005g0187 a0010c0016t0003g0049 a0010c0016t0014g0047 a0010c0017t0006g0046 a0010c0017t0006g0050 a0011c0020t0004g0185 a0011c0020t0005g0180 a0013c0015t0011g0045 a0013c0015t0011g0048 a0014c0021t0001g0112 a0014c0021t0001g0173 a0016c0032t0001g0057 a0017c0034t0002g0168 a0018c0033t0002g0073 a0019c0028t0005g0092 a0020c0030t0008g0019 a0023c0025t0003g0010 a0024c0038t0004g0095 a0026c0031t0004g0171 a0027c0041t0002g0204 a0029c0023t0002g0090 a0031c0046t0002g0087	129	236	0.5466	452	c.148 others(469): Show c.1483-577_1483-576insCCCCAGCCCCCCCAGCCTCCCCAGCCTC CCCGCCTCCCCCACCTCCTAGCCCCCCACCCCCCCAGCCTCCCCAGACTC CCCCGCCCCCAGCCTCCCCAGCCTCCCTACCTCCCCCACCCCTTGCCCCC CCAGCCTCCCCACCTCCTCAGCCTGCCCAGCACCCCCAGCCTCCCCAGCC TCCCCAGCGCCCCAGCCCCCCAGCCTCCCCAGCCCCCACCTCCCCAGCCT CCCCAGCACCCCAGCCCCCCAGCCTTCTTAGCCCCCCACCTCCCCAGCCT TCCCAGCCCCCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCCCCAGCCT CCCCAGCCCCCCAGCCCCCAGCCTCCCCACCTCCCCAGCCTCCACCTCCC CAGCCTCCCCAGCCCCCCACCTCCCCAGCCTCCCCAGACTCCCAGCACCC CCAACCTCCCCAGCCTCCCCAGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	5/10			chr1	TogoVar
GLIS1_chr1_53501239_53744164	53525463	A A	AGGCTGGG others(445): Show AGGCTGGGGAGGCTGGGGAGGTTGGGGGTGCTGGGAGTCTGGGGAGGCTG GGGAGGTGGGGGGCTGGGGAGGCTGGGGAGGTGGAGGCTGGGGAGGTGGG GAGGCTGGGGGCTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGGCTGGGG AGGCTGGGGAGGTGGGGGGCTGGGAAGGCTGGGGAGGTGGGGGGCTAAGA AGGCTGGGGGGCTGGGGTGCTGGGGAGGCTGGGGAGGTGGGGGCTGGGGA GGCTGGGGGGCTGGGGCGCTGGGGAGGCTGGGGAGGCTGGGGGTGCTGGG CAGGCTGAGGAGGTGGGGAGGCTGGGGGGGCAAGGGGTGGGGGAGGTAGG GAGGCTGGGGAGGCTGGGGGCGGGGGAGTCTGGGGAGGCTGGGGGGGTGG GGGGCTAGGAGGTGGGGGGGGCGGGGAGGCTGGGGAGGCTGGGGGGGCTG GGG	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0001 a0002c0018t0001	a0002c0018t0001g0145 a0002c0018t0001g0145	1	236	0.0042	452	c.148 others(469): Show c.1483-577_1483-576insCCCCAGCCCCCCCAGCCTCCCCAGCCTC CCCGCCCCCCCCACCTCCTAGCCCCCCACCCCCCCAGCCTCCCCAGACTC CCCCGCCCCCAGCCTCCCCAGCCTCCCTACCTCCCCCACCCCTTGCCCCC CCAGCCTCCCCACCTCCTCAGCCTGCCCAGCACCCCCAGCCTCCCCAGCC TCCCCAGCGCCCCAGCCCCCCAGCCTCCCCAGCCCCCACCTCCCCAGCCT CCCCAGCACCCCAGCCCCCCAGCCTTCTTAGCCCCCCACCTCCCCAGCCT TCCCAGCCCCCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCCCCAGCCT CCCCAGCCCCCCAGCCCCCAGCCTCCCCACCTCCCCAGCCTCCACCTCCC CAGCCTCCCCAGCCCCCCACCTCCCCAGCCTCCCCAGACTCCCAGCACCC CCAACCTCCCCAGCCTCCCCAGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	5/10			chr1	TogoVar
GLIS1_chr1_53501239_53744164	53525463	A A	AGGCTGGG others(445): Show AGGCTGGGGAGGCTGGGGAGGTTGGGGGTGCTGGGAGTCTGGGGAGGCTG GGGAGGTGGGGGGCTGGGGAGGCTGGGGAGGTGGAGGCTGGGGAGGTGGG GAGGCTGGGGGTTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGGCTGGGG AGGCTGGGGAGGTGGGGGGCTGGGAAGGCTGGGGAGGTGGGGGGCTAAGA AGGCTGGGGGGCTGGGGTGCTGGGGAGGCTGGGGAGGTGGGGGCTGGGGA GGCTGGGGGGCTGGGGCGCTGGGGAGGCTGGGGAGGCTGGGGGTGCTGGG CAGGCTGAGGAGGTGGGGAGGCTGGGGGGGCAAGGGGTGGGGGAGGTAGG GAGGCTGGGGAGGCTGGGGGCGGGGGAGTCTGGGGAGGCTGGGGGGGTGG GGGGCTAGGAGGTGGGGGAGGCGGGGAGGCTGGGGAGGCTGGGGGGGCTG GGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01106.hp1 HG00738.hp1 HG01106.hp1	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0001 a0012c0019t0002 a0012c0019t0001 a0012c0019t0002	a0012c0019t0001g0083 a0012c0019t0002g0084 a0012c0019t0001g0083 a0012c0019t0002g0084	2	236	0.0085	452	c.148 others(469): Show c.1483-577_1483-576insCCCCAGCCCCCCCAGCCTCCCCAGCCTC CCCGCCTCCCCCACCTCCTAGCCCCCCACCCCCCCAGCCTCCCCAGACTC CCCCGCCCCCAGCCTCCCCAGCCTCCCTACCTCCCCCACCCCTTGCCCCC CCAGCCTCCCCACCTCCTCAGCCTGCCCAGCACCCCCAGCCTCCCCAGCC TCCCCAGCGCCCCAGCCCCCCAGCCTCCCCAGCCCCCACCTCCCCAGCCT CCCCAGCACCCCAGCCCCCCAGCCTTCTTAGCCCCCCACCTCCCCAGCCT TCCCAGCCCCCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCCCCAGCCT CCCCAGCCCCCCAACCCCCAGCCTCCCCACCTCCCCAGCCTCCACCTCCC CAGCCTCCCCAGCCCCCCACCTCCCCAGCCTCCCCAGACTCCCAGCACCC CCAACCTCCCCAGCCTCCCCAGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	5/10			chr1	TogoVar
GLIS1_chr1_53501239_53744164	53525463	A A	AGGCTGGG others(445): Show AGGCTGGGGAGGCTGGGGAGGTTGGGGGTGCTGGGAGTCTGGGGAGGCTG GGGAGGTTGGGGGCTGGGGAGGCTGGGGAGGTGGAGGCTGGGGAGGTGGG GAGGCTGGGGGCTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGGCTGGGG AGGCTGGGGAGGTGGGGGGCTGGGAAGGCTGGGGAGGTGGGGGGCTAAGA AGGCTGGGGGGCTGGGGTGCTGGGGAGGCTGGGGAGGTGGGGGCTGGGGA GGCTGGGGGGCTGGGGCGCTGGGGAGGCTGGGGAGGCTGGGGGTGCTGGG CAGGCTGAGGAGGTGGGGAGGCTGGGGGGGCAAGGGGTGGGGGAGGTAGG GAGGCTGGGGAGGCTGGGGGCGGGGGAGTCTGGGGAGGCTGGGGGGGTGG GGGGCTAGGAGGTGGGGGAGGCGGGGAGGCTGGGGAGGCTGGGGGGGCTG GGG	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA20300.hp2 HG03579.hp2 NA20300.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0011 a0002c0002 a0008c0011	a0002c0002t0002 a0008c0011t0002 a0002c0002t0002 a0008c0011t0002	a0002c0002t0002g0186 a0008c0011t0002g0135 a0002c0002t0002g0186 a0008c0011t0002g0135	2	236	0.0085	452	c.148 others(469): Show c.1483-577_1483-576insCCCCAGCCCCCCCAGCCTCCCCAGCCTC CCCGCCTCCCCCACCTCCTAGCCCCCCACCCCCCCAGCCTCCCCAGACTC CCCCGCCCCCAGCCTCCCCAGCCTCCCTACCTCCCCCACCCCTTGCCCCC CCAGCCTCCCCACCTCCTCAGCCTGCCCAGCACCCCCAGCCTCCCCAGCC TCCCCAGCGCCCCAGCCCCCCAGCCTCCCCAGCCCCCACCTCCCCAGCCT CCCCAGCACCCCAGCCCCCCAGCCTTCTTAGCCCCCCACCTCCCCAGCCT TCCCAGCCCCCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCCCCAGCCT CCCCAGCCCCCCAGCCCCCAGCCTCCCCACCTCCCCAGCCTCCACCTCCC CAGCCTCCCCAGCCCCCAACCTCCCCAGCCTCCCCAGACTCCCAGCACCC CCAACCTCCCCAGCCTCCCCAGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	5/10			chr1	TogoVar
GPR173_chrX_53043789_53085615	53074425	T T	TATATATT others(445): Show TATATATTAATATATATTTATATTTATTTATTAATAAATATATATAAATA TATATAAATATATATTTATATTTATTTATAAATATATATTTATATTTATT TATATATAAATATATATAAATCTATATTTATAGTTATTTATATATAAATA TATAAATCTATATATATAAATATAGATTTATATATATTTATATATAAATA ACTATAAATATAGATTTATATATATTTATATATAAATAACTATAAATATA GATTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTA TATATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATA TAGATTTATATATATTTATATATAAATAACTATATAGATTTATATATATT TATTTATAAATAACTATATAGATTTATATATATTTATTTATAAATAACTA TAA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0069 a0010c0011t0069	a0010c0011t0069g0045 a0010c0011t0069g0045	1	208	0.0048	452	c.-97 others(469): Show c.-97-2095_-97-2094insTTAATATATATTTATATTTATTTATTAA TAAATATATATAAATATATATAAATATATATTTATATTTATTTATAAATA TATATTTATATTTATTTATATATAAATATATATAAATCTATATTTATAGT TATTTATATATAAATATATAAATCTATATATATAAATATAGATTTATATA TATTTATATATAAATAACTATAAATATAGATTTATATATATTTATATATA AATAACTATAAATATAGATTTATATATATTTATATATAAATAACTATATA GATTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTA TATATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATA TAGATTTATATATATTTATTTATAAATAACTATATAGATTTATATATATT TATTTATAAATAACTATAAATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
HCN2_chr19_584881_622159	602167	T T	TCTCCTGC others(445): Show TCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCC TCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTTC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGAC GCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCT CTC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0072 a0001c0006t0004g0072	1	408	0.0025	452	c.633 others(469): Show c.633-1191_633-1190insCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTT CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTC TCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGAC GCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCT CTCCTCCTGCGTGGACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602222	C C	CCCTCCTC others(445): Show CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTG GACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCC TCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCC TCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCT CCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCA CTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0068 a0001c0001t0004g0068	1	408	0.0025	452	c.633 others(469): Show c.633-1290_633-1289insTCCTCCTCTCCTGCGTGGACGCCCCACT CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTC TCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGAC GCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCT CTCCTCCTGCGTGGACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602393	C C	CCTCCTGC others(445): Show CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCT CCT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	408	0.0025	452	c.633 others(469): Show c.633-1130_633-1129insCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCT CCTCTCCTGCGTGGACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602415	T T	TCCTCCTC others(445): Show TCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGA CGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTC TCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGAC GCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCT CTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCA CTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0108 a0001c0108	a0001c0108t0004 a0001c0108t0004	a0001c0108t0004g0043 a0001c0108t0004g0043	1	408	0.0025	452	c.633 others(469): Show c.633-1097_633-1096insCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCC TCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCT CTCCTCCTGCGTGGACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
IFNAR1_chr21_33319970_33364864	33322202	T T	TATGGAAT others(445): Show TATGGAATATATATATGGAACATATATATGGAATATATATATGGAATACA TATATGGAATATATATATATGGAATATATATATGCAATATATATATATGG AATATATATATGGAATATATATGGAATATATATATGGAATATATATATGG AATATATATATGGAATATATATATGGAATATATACATGGAATATATATAT GGAATATATACATGGAATATATATATGGAATATATACATGGAATATATAT ATGGAATATATACATGGAATATATATATGGAATATATACATGGAATATAT ATATGGAATATATACATGGAATATATGTATATGGAATATATACATGGAAT ATATGTATATGGAATATATACATGGAATATATGTATATGGAATATATACA TGGAATATATGTATATGGAATATATACATGGAATATGTATATGGAATATA TAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	323	0.0031	452	c.-28 others(463): Show c.-2854_-2853insATGGAATATATATATGGAACATATATATGGAATA TATATATGGAATACATATATGGAATATATATATATGGAATATATATATGC AATATATATATATGGAATATATATATGGAATATATATGGAATATATATAT GGAATATATATATGGAATATATATATGGAATATATATATGGAATATATAC ATGGAATATATATATGGAATATATACATGGAATATATATATGGAATATAT ACATGGAATATATATATGGAATATATACATGGAATATATATATGGAATAT ATACATGGAATATATATATGGAATATATACATGGAATATATGTATATGGA ATATATACATGGAATATATGTATATGGAATATATACATGGAATATATGTA TATGGAATATATACATGGAATATATGTATATGGAATATATACATGGAATA TGTATATGGAATATATAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2767		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322237	T T	TATATATG others(445): Show TATATATGGAATATATACATGGAATATATATATGGAATATATATATCTGG AATATATATATATGGAATATATATATGGAACATATATATGGAATATATAT ATGGAATACATATATGGAATATATATATATGGAATATATATATGCAATAT ATATATATGGAATATATATATGGAATATATATAGAATATATATATGGAAT ATATATATGGAATATATATATGGAATATATATATGGAATATATATATGGA ATATATATATGGAATATATATATGGAATATATATATGGAATATATATATG GAATATATATATGGAATATATATATGGAATATATACATGGAATATATGTA TATGGAATATATACATGGAATATATGTATATGGAATATATACATGGAATA TATGTATATGGAATATATACATGGAATATATGTATATGGAATATATACAT GGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	323	0.0031	452	c.-28 others(463): Show c.-2819_-2818insATATATGGAATATATACATGGAATATATATATGG AATATATATATCTGGAATATATATATATGGAATATATATATGGAACATAT ATATGGAATATATATATGGAATACATATATGGAATATATATATATGGAAT ATATATATGCAATATATATATATGGAATATATATATGGAATATATATAGA ATATATATATGGAATATATATATGGAATATATATATGGAATATATATATG GAATATATATATGGAATATATATATGGAATATATATATGGAATATATATA TGGAATATATATATGGAATATATATATGGAATATATATATGGAATATATA CATGGAATATATGTATATGGAATATATACATGGAATATATGTATATGGAA TATATACATGGAATATATGTATATGGAATATATACATGGAATATATGTAT ATGGAATATATACATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2732		chr21	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(445): Show CTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCC CCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCC CCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCCTCCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTCTGTCCCCCTCCCCTC CCCCCTCTCCCCTCCCCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCC CCTATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCC CCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTC CTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTT CCCTCTGTCTCTCTCCCCCCCTCCCTCTCTCTCTCTCCCCCTCCTTCCCC CTG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0024 a0001c0013t0024	a0001c0013t0024g0078 a0001c0013t0024g0078	1	158	0.0063	452	c.11 others(473): Show c.1103+4101_*1103+4102insCCCCTCCCCCTCCTTCCCTCTCTC TCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCC TCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCCT CCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTC TCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCTATCCCCC TCCCCCTCCCCCTCCCCCCTATCCCCCTCCCCCTCATCCCCCTCCCCCTC CTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCT CTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTC TCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCTCCCTCTCTCTC TCTCCCCCTCCTTCCCCCTGTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(445): Show CTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCC CCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCC TCCCCCTCTCCCCTCCCCCTCTCTCCCCCTCCCCCTCCCCCTCCCCTCCC CATCCCCTCCCCCTCTCTCTCCCCCTCTCTGTCCCCCTCCCCTCCCCCCT CTCCCCCTCCCCCTCCCCCCTATCCCCCCCCTCCCCCTCCCCCCTCCCCC CATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCC CTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCT TCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCC CTCTGTCTCTCTCCCCCCCCTCCCTCTCTCTCTCTCCCCCCTCCTTCCCC CTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0003 a0003	a0003c0051 a0003c0051	a0003c0051t0001 a0003c0051t0001	a0003c0051t0001g0004 a0003c0051t0001g0004	1	158	0.0063	452	c.11 others(473): Show c.1103+4101_*1103+4102insCCCCTCCCCCTCCTTCCCTCTCTC TCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCT CCCCCTCTCTCTCCCCCTCCCCCTCTCCCCTCCCCCTCTCTCCCCCTCCC CCTCCCCCTCCCCTCCCCATCCCCTCCCCCTCTCTCTCCCCCTCTCTGTC CCCCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCCTATCCCCCCCCTC CCCCTCCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCT TCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCT CTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTC TCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCCTCTCTCTCT CTCCCCCCTCCTTCCCCCTGTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KANK1_chr9_499695_751103	514135	C C	CCTCCCTT others(445): Show CCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTC TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCTCTC CCTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCTCTCCCCTT CCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCTCC CTTCCTCCCTTCCTCTCTCCCTTCCTCCCTTCCTCCCTCCTCTCCCTCCC TCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTC CCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTTCC TCT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0145 a0002c0007t0002g0145	1	254	0.0039	452	c.-84 others(469): Show c.-84+9387_-84+9388insTCCTCTCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTTCCTCTCTCCCTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTC CCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCC TCCCTCTCTCCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCC CTCCCTCCCTCCTCCCTTCCTCCCTTCCTCTCTCCCTTCCTCCCTTCCTC CCTCCTCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTTC CTCTCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCT CCCTCCCTCCCTTCCTCTCTCCCT	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK1_chr9_499695_751103	514219	C C	CCTCCCTC others(445): Show CCTCCCTCCCTCCCTCCTCTCCCTCTCCTCCCTCCCTCCCTTCCTCTCCT CCTCCCTCCCTCCCTCCCTCCTCTCTCCCTCCTCCCTCCCTCCCTTCCTC TCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTTCC TCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTT CCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTTCCTCCCTCCCTCCC TCCCTCCCTCTCTTCCTCCCTCTCTTCCTCCCTCTCTCCCTCCTTCTCTC CCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCC TTCCTCTCTCCCTCCCTCCCTTCCTTCCTCCCTTCCTCTCTCCCTCCCTC CCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTTCCTTCCTCCCTTCCTCTC TCT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0006 a0005c0004t0006	a0005c0004t0006g0220 a0005c0004t0006g0220	1	254	0.0039	452	c.-84 others(469): Show c.-84+9467_-84+9468insCCCTCCCTCCCTCCTCTCCCTCTCCTCC CTCCCTCCCTTCCTCTCCTCCTCCCTCCCTCCCTCCCTCCTCTCTCCCTC CTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTTCCT CTCTCCCTCCCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCT CTCTTCCTCCCTCCCTCCCTCCCTCCCTCTCTTCCTCCCTCTCTTCCTCC CTCTCTCCCTCCTTCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTTCCTTCCTCC CTTCCTCTCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCT TCCTTCCTCCCTTCCTCTCTCTCT	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNMB2_chr3_178531436_178849429	178758165	G G	GATATATA others(445): Show GATATATATATATATATATATATCCAAGAGGATATATATATATATATATA TATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATA TATATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAG GATATATATATATATATATATATCCAAGAGGATATATATATATATATATA TATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATA TATATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAG GATATATATATATATATATATATCCAAGAGGATATATATATATATATATA TATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATA TATATATATATATCCAAGAGGATATATATATATATATATATCCAAGGGGA TAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0157 a0001c0001t0003g0157	1	232	0.0043	452	c.-67 others(471): Show c.-67-49162_-67-49161insATATATCCAAGAGGATATATATATAT ATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGAT ATATATATATATATATATATCCAAGAGGATATATATATATATATATATAT CCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATAT ATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGAT ATATATATATATATATATATCCAAGAGGATATATATATATATATATATAT CCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATAT ATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGAT ATATATATATATATATATATCCAAGAGGATATATATATATATATATATCC AAGGGGATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNT2_chr1_196220779_196613440	196437080	T T	TATAAATA others(445): Show TATAAATATATATTTATATACATAAATATATTTATATATAAATATATATT TTTATATATATTTATATATAAATATATATTTTTATATATATTTATGTATA TATTTATATATAAATATATATTTATATATTTATATATATTTATGTATATA CATAAATATATATTTATATATATTTATATATATACATAAATATATATTTA TATATAAATATATATTTATATATATACATAAATATATATTTATATATAAA TATATATTTATATATTTATATATATTTATATACATAAATATATATTTATA TATATTTATATATATTTATATACATAAATATATATTTATATATATTTATA TATATAAATATATATTTATATATATTTATATATATTTATATACATAAATA TATATTTATATATATTTATATACATAAATATATATTTATATATATTTATA TAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0109 a0001c0003t0001g0109	1	136	0.0074	452	c.639 others(469): Show c.639-7324_639-7323insGTATATAAATATATATAAATATATATTT ATGTATATAAATATATATAAATATATATTTATGTATATAAATATATATAA ATATATATAAATATATATTTATATATATAAATATATATAAATATATATTT ATGTATATAAATATATATAAATATATATAAATATATATTTATGTATATAA ATATATATAAATATATAAATATATATTTATATATAAATATATATTTATGT ATATATATAAATATATATTTATATATAAATATATATTTATGTATATATAT AAATATATATAAATATATATTTATGTATATACATAAATATATATAAATAT ATAAATATATATTTATATATAAATATATACATAAATATATATAAAAATAT ATATTTATATATAAATATATATAAAAATATATATTTATATATAAATATAT TTATGTATATAAATATATATTTAT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	8/27			chr1	TogoVar
KLHDC4_chr16_87702812_87770986	87739111	C C	CCTCATCC others(445): Show CCTCATCCATCCACACACCAGCATCCCATCCATCCACACACCAGCACCTC ATCCATCCACACACCAGTATCTCATCCACACACCAGCACCTCATCCATCC ACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACAC ACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCA GCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCAC CTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCA TCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCA TCCACACACCAGCACCTCATCCATCCACACACCAGCATCTCATCCACACA CCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACCAG CAT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0161 a0002c0002t0002g0161	1	380	0.0026	452	c.507 others(469): Show c.507-8468_507-8467insATGCTGGTGTGTGGATGGATGAGATGCT GGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGATGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTG GATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATG AGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGT GCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGG ATGAGATACTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGG GATGCTGGTGTGTGGATGGATGAG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87739111	C C	CCTCATCC others(445): Show CCTCATCCATCCACACACCAGCATCCCATCCATCCACACACCAGCACCTC ATCCATCCACACACCAGTATCTCATCCACACACCAGCACCTCATCCATCC ACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCA GCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCAC CTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCA TCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCA TCCACACACCAGCACCTCATCCATCCACACACCAGCATCTCATCCACACA CCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACCAG CAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0251 a0002c0002t0001g0251	1	380	0.0026	452	c.507 others(469): Show c.507-8468_507-8467insATGCTGGTGTGTGGATGGATGAGATGCT GGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGATGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTG GATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATG AGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGT GCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGG ATGAGATACTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGG GATGCTGGTGTGTGGATGGATGAG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KREMEN1_chr22_29068035_29151820	29120244	A A	AGGAAACA others(445): Show AGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAATGGAGGAAGGAGAGG TGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGAGAGGA AGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAAT GGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAA GGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGT GATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGG AGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGA GGAGGGAGAGGTGATAATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGA AACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGAT GAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0224 a0002c0003t0003g0224	1	368	0.0027	452	c.353 others(469): Show c.353-1085_353-1084insTGGAAATGGAGGAAGGAGAGGTGATGAT GGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGAGAGGAAGGAGAG GTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAG GGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATG GAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAG GAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTG ATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGA GAGGTGATAATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGG AGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAA ACAGGGAGGAGGGAGAGGTGATGA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
LINGO2_chr9_27932617_29218601	28189537	G G	GAGGAAGG others(445): Show GAGGAAGGAAGGGAGGGAAGAAGGAAGGGAGGGAGGGAGGAAGGAAGGGA GGGAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGG GAGGAAGGAAGGAAGTGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAA GTGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGAAGAAA GGAAGGAAGGGAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGG GAGGGAGGAAGGAAGGGAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGAA GGAAGGGAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGG AAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGAAGAAAGGAA GGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02056.hp1 NA18990.hp1 others(3): Show HG00408.hp1 HG02056.hp1 NA18990.hp1 NA18995.hp2 NA19060.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0017	a0001c0001t0001g0017 a0001c0001t0001g0043 a0001c0001t0002g0014 others(3): Show a0001c0001t0001g0017 a0001c0001t0001g0043 a0001c0001t0002g0014 a0001c0001t0002g0045 a0001c0001t0003g0032 a0001c0001t0017g0007	6	62	0.0968	452	c.-36 others(473): Show c.-36+105670_-36+105671insTCCTTCCTTTCTTCCTCCCTTCCT TCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTC CTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCT TCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCC CTTCCTTCCTCCCTTCCTCCCTTCCTTCCTTTCTTCCTCCCTTCCTTCCT TCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTC CTTCCTCCCTCCCTTCCTTCCTCCCTCACTTCCTTCCTTCCTCCCTCCCT TCCTTCCTCCCTCACTTCCTTCCTTCCTCCCTTCCTTCCTCCCTCCCTTC CTTCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCT CCCTTCCTTCTTCCCTCCCTTCCTTCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LRRC23_chr12_6899822_6919229	6909274	T T	TATATATA others(445): Show TATATATAATTATATATAATATATAATTATATATTATATCTAATTATATA TAATATATATATATTATATATATAATAATATATATACAATATATAATTAT ATATTATATAATTATATATAATATATAATTATATATTATATATAATATAT AATTATATATTATATAATAATATATAATTATATATTATATATAATATATA ATTATATATTATATATAATATATAATTATATATTATATAATAATATATAA TTATATATTATATATAATATATAATTATATATTATATAATAATATATAAT TATTAATATATAATTATATATAATATATAATTATATATTATATAATAATA TATAATTATATATTATATATAATTATATATTATATAATAACATATAATTA TATATAATATATAAATATATAATATATAAATATATAATATATAAATATAT ATA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18948.hp1 NA18948.hp2 others(2): Show NA18747.hp1 NA18948.hp1 NA18948.hp2 NA18960.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0113 a0001c0001t0001g0114 others(1): Show a0001c0001t0001g0034 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0126	5	316	0.0158	452	c.622 others(467): Show c.622-596_622-595insTATAATTATATATTATATCTAATTATATAT AATATATATATATTATATATATAATAATATATATACAATATATAATTATA TATTATATAATTATATATAATATATAATTATATATTATATATAATATATA ATTATATATTATATAATAATATATAATTATATATTATATATAATATATAA TTATATATTATATATAATATATAATTATATATTATATAATAATATATAAT TATATATTATATATAATATATAATTATATATTATATAATAATATATAATT ATTAATATATAATTATATATAATATATAATTATATATTATATAATAATAT ATAATTATATATTATATATAATTATATATTATATAATAACATATAATTAT ATATAATATATAAATATATAATATATAAATATATAATATATAAATATATA TAATATATAATTATATATAATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
LUZP2_chr11_24492053_25087638	24602247	T T	TATATGTA others(445): Show TATATGTACATATATGTGTATATATGTATATATGTACATATATGTATATA TGTATATATGTACATATATGTGTATATATGTATATATATGCAAACATATA TGTGTATATATGTGTATATATGCAAACATATATGTGTATATATGTATATA TATGCAAACATATATGTACATACATATATACACACATATATATGTACATA CATATATACACACATATATATGTACATACATATATACACACATATATATG TACATACATATATACACACATATATATGTACATACATATATACACACATA TATATGTACATACATATATACACACATATATATGTACATACATATATACA CACATATATATGTACATACATATATGCACACATATATATGTACATACATA TATGCACACATATATATGTACATACATATATGCACACATATATATGTACA TAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02896.hp1 NA21309.hp2 HG02717.hp1 HG02896.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0013 a0001c0003t0004 a0001c0001t0005 a0001c0001t0013 a0001c0003t0004	a0001c0001t0005g0029 a0001c0001t0013g0086 a0001c0003t0004g0004 a0001c0001t0005g0029 a0001c0001t0013g0086 a0001c0003t0004g0004	3	116	0.0259	452	c.62+ others(471): Show c.62+104946_62+104947insGTACATATATGTGTATATATGTATAT ATGTACATATATGTATATATGTATATATGTACATATATGTGTATATATGT ATATATATGCAAACATATATGTGTATATATGTGTATATATGCAAACATAT ATGTGTATATATGTATATATATGCAAACATATATGTACATACATATATAC ACACATATATATGTACATACATATATACACACATATATATGTACATACAT ATATACACACATATATATGTACATACATATATACACACATATATATGTAC ATACATATATACACACATATATATGTACATACATATATACACACATATAT ATGTACATACATATATACACACATATATATGTACATACATATATGCACAC ATATATATGTACATACATATATGCACACATATATATGTACATACATATAT GCACACATATATATGTACATACATAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	24602247	T T	TATATGTA others(445): Show TATATGTACATATATGTGTATATATGTATATATGTACATATATGTATATA TGTATATATGTACATATATGTGTATATATGTATATATATGCAAACATATA TGTGTATATATGTGTATATATGCAAACATATATGTGTATATATGTATATA TATGCAAACATATATGTACATACATATATACACACATATATATGTACATA CATATATACACACATATATATGTACATACATATATACACACATATATATG TACATACATATATACACACATATATATGTACATACATATATACACACATA TATATGTACATACATATATACACACATATATATGTACATACATATATGCA CACATATATATGTACATACATATATGCACACATATATATGTACATACATA TATGCACACATATATATGTACATACATATATGCACACATATATATGTACA TAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG03486.hp2 HG01891.hp1 HG02451.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0038 a0001c0001t0003 a0001c0001t0006 a0001c0001t0038	a0001c0001t0003g0024 a0001c0001t0006g0035 a0001c0001t0038g0090 a0001c0001t0003g0024 a0001c0001t0006g0035 a0001c0001t0038g0090	3	116	0.0259	452	c.62+ others(471): Show c.62+104946_62+104947insGTACATATATGTGTATATATGTATAT ATGTACATATATGTATATATGTATATATGTACATATATGTGTATATATGT ATATATATGCAAACATATATGTGTATATATGTGTATATATGCAAACATAT ATGTGTATATATGTATATATATGCAAACATATATGTACATACATATATAC ACACATATATATGTACATACATATATACACACATATATATGTACATACAT ATATACACACATATATATGTACATACATATATACACACATATATATGTAC ATACATATATACACACATATATATGTACATACATATATACACACATATAT ATGTACATACATATATGCACACATATATATGTACATACATATATGCACAC ATATATATGTACATACATATATGCACACATATATATGTACATACATATAT GCACACATATATATGTACATACATAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	24602247	T T	TATATGTA others(445): Show TATATGTACATATATGTGTATATATGTATATATGTACATATATGTGTATA TATGTATATATGTACATATATGTATATATGTATATATGTACATATATGTG TATATATGTATATATATGCAAACATATATGTGTATATATGTGTATATATG CAAACATATATGTGTATATATGTATATATATGCAAACATATATGTACATA CATATATACACACATATATATGTACATACATATATACACACATATATATG TACATACATATATACACACATATATATGTACATACATATATACACACATA TATATGTACATACATATATACACACATATATATGTACATACATATATGCA CACATATATATGTACATACATATATGCACACATATATATGTACATACATA TATGCACACATATATATGTACATACATATATGCACACATATATATGTACA TAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	116	0.0086	452	c.62+ others(471): Show c.62+104946_62+104947insGTACATATATGTGTATATATGTATAT ATGTACATATATGTGTATATATGTATATATGTACATATATGTATATATGT ATATATGTACATATATGTGTATATATGTATATATATGCAAACATATATGT GTATATATGTGTATATATGCAAACATATATGTGTATATATGTATATATAT GCAAACATATATGTACATACATATATACACACATATATATGTACATACAT ATATACACACATATATATGTACATACATATATACACACATATATATGTAC ATACATATATACACACATATATATGTACATACATATATACACACATATAT ATGTACATACATATATGCACACATATATATGTACATACATATATGCACAC ATATATATGTACATACATATATGCACACATATATATGTACATACATATAT GCACACATATATATGTACATACATAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	24602247	T T	TATATGTA others(445): Show TATATGTACATATATGTGTATATATGTATATATGTACATATATGTGTATA TGTATATATGTACATATATGTGTATATATGTATATATATGCAAACATATA TGTGTATATATGTGTATATATGCAAACATATATGTGTATATATGTATATA TATGCAAACATATATGTACATACATATATACACACATATATATGTACATA CATATATACACACATATATATGTACATACATATATACACACATATATATG TACATACATATATACACACATATATATGTACATACATATATACACACATA TATATGTACATACATATATACACACATATATATGTACATACATATATACA CACATATATATGTACATACATATATGCACACATATATATGTACATACATA TATGCACACATATATATGTACATACATATATGCACACATATATATGTACA TAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0038 a0001c0001t0010g0038	1	116	0.0086	452	c.62+ others(471): Show c.62+104946_62+104947insGTACATATATGTGTATATATGTATAT ATGTACATATATGTGTATATGTATATATGTACATATATGTGTATATATGT ATATATATGCAAACATATATGTGTATATATGTGTATATATGCAAACATAT ATGTGTATATATGTATATATATGCAAACATATATGTACATACATATATAC ACACATATATATGTACATACATATATACACACATATATATGTACATACAT ATATACACACATATATATGTACATACATATATACACACATATATATGTAC ATACATATATACACACATATATATGTACATACATATATACACACATATAT ATGTACATACATATATACACACATATATATGTACATACATATATGCACAC ATATATATGTACATACATATATGCACACATATATATGTACATACATATAT GCACACATATATATGTACATACATAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	24602247	T T	TATATGTA others(445): Show TATATGTACATATATGTGTATATATGTATATATGTACATATATGTGTATA TGTATATATGTACATATATGTGTATATATGTATATATATGCAAACATATA TGTGTATATATGTGTATATATGCAAACATATATGTGTATATATGTATATA TATGCAAACATATATGTACATACATATATACACACATATATATGTACATA CATATATACACACATATATATGTACATACATATATACACACATATATATG TACATACATATATACACACATATATATGTACATACATATATACACACATA TATATGTACATACATATATACACACATATATATGTACATACATATATGCA CACATATATATGTACATACATATATGCACACATATATATGTACATACATA TATGCACACATATATATGTACATACATATATGCACACATATATATGTACA TAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0039 a0001c0001t0013g0039	1	116	0.0086	452	c.62+ others(471): Show c.62+104946_62+104947insGTACATATATGTGTATATATGTATAT ATGTACATATATGTGTATATGTATATATGTACATATATGTGTATATATGT ATATATATGCAAACATATATGTGTATATATGTGTATATATGCAAACATAT ATGTGTATATATGTATATATATGCAAACATATATGTACATACATATATAC ACACATATATATGTACATACATATATACACACATATATATGTACATACAT ATATACACACATATATATGTACATACATATATACACACATATATATGTAC ATACATATATACACACATATATATGTACATACATATATACACACATATAT ATGTACATACATATATGCACACATATATATGTACATACATATATGCACAC ATATATATGTACATACATATATGCACACATATATATGTACATACATATAT GCACACATATATATGTACATACATAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
MAGEF1_chr3_184705364_184717064	184712993	C C	CTTCCTTC others(445): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	456	0.0022	452	c.-11 others(463): Show c.-1173_-1172insAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGG AAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA AGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGG AAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAA	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		930		chr3	TogoVar
MBNL3_chrX_132364320_132494038	132396705	T T	TATATATA others(445): Show TATATATATTCATATATATATATTCATATATAGATTCATATATATATTCA TATATAGATTCATATATATTCATATATAGATTCATATATATTCATATATA GATTCATATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATTCATATATATATTCATA TATATATTCATATATATATTCATATATATATTCATATATATTCATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATTCA TATATATATTCATATATATATTCATATATATTCATATATATTCATATATA TTCATATATATATTCATATATATTCATATATATATTCATATATATTCATA TATATATTCATATATATATTCATATATATTCATATATATTCATATATATA TTC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0059	1	191	0.0052	452	c.343 others(469): Show c.343-4372_343-4371insGAATATATATATGAATATATATGAATAT ATATGAATATATATATGAATATATATATGAATATATATGAATATATATAT GAATATATATGAATATATATATGAATATATATGAATATATATGAATATAT ATGAATATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATATGAATATATATATGAATATATATGAATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATATATATATGAATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATGAAT ATATATATGAATATATATATGAATCTATATATGAATATATATGAATCTAT ATATGAATATATATGAATCTATATATGAATATATATATGAATCTATATAT GAATATATATATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MMD2_chr7_4900998_4964187	4960054	G G	GTGGGAAG others(445): Show GTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGAGGGAG TGGGAAGTGGGGGTGTTGGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAG GGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGGG GACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGAGTGAGG GGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGG GTGTTGGAGGGAGTGGGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGG TGTTGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTG GGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGG GGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGGG GGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG03130.hp1 HG02970.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0006 a0001c0002t0001g0008	2	382	0.0052	452	c.-10 others(463): Show c.-1038_-1037insTCCCCCCACCCCCAGGTCCCCCACTCCCTCCAAC ACCCCCACTTCCCACTCCCCCCACCCCCAGGTCCCCCACTCCCTCCAACA CCCCCACTTCCCACTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAACC CCCTCACTCCCCCCCAACACCCCCACTTCCCACTCCCCCCACCCCCAGGT CCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAACCTCCAAGTC CCTCTCTTCCCACTAACCCCCTCACTCCCCCCCAACACCCCCACTTCCCA CTCCCCCCACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTCCCAC TCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTCCCCCC CCAACACCCCCACTTCCCACTCCCTCCACCCCCAGGTCCCCCACTCCCTC CAACACCCCCACTTCCCA	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		868		chr7	TogoVar
MSLN_chr16_755734_773862	767576	A A	AGGGGCGC others(445): Show AGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGG AGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGC GTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGGGGG GGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGAGGGGCGCATG GGGGGGTGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGG GGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAG GAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGG GCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGA GGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGG AGG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0019 a0019	a0019c0045 a0019c0045	a0019c0045t0001 a0019c0045t0001	a0019c0045t0001g0034 a0019c0045t0001g0034	1	388	0.0026	452	c.159 others(469): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGG GGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGAGGGGCG CATGGGGGGGTGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCG TGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGT GGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGG AGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGG AGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGC GTGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGG GCGTGGAGGAGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTTP_chr4_99569824_99628997	99588815	A A	ACATATAT others(445): Show ACATATATATGTTCATATATATACACACATATATATGTTCATATATATAC ACACATATATATGTTCATATATATTCATATATATATGTTCATATATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATTCATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18987.hp2 NA18999.hp2 others(1): Show NA18960.hp1 NA18987.hp2 NA18999.hp2 NA19065.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0262 others(1): Show a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0262 a0003c0003t0001g0268	4	364	0.0110	452	c.394 others(467): Show c.394-819_394-818insGTTCATATATATACACACATATATATGTTC ATATATATACACACATATATATGTTCATATATATTCATATATATATGTTC ATATATATTCATATATATGTTCATATATATATTCATATATATGTTCATAT ATATTCATATATATGTTCATATATATATTCATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99588871	A A	ACATATAT others(445): Show ACATATATATGTTCATATATATTCATATATATATGTTCATATATATTCAT ATATATGTTCATATATATATTCATATATATGTTCATATATATTCATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0165 a0003c0003t0001g0165	1	364	0.0028	452	c.394 others(467): Show c.394-763_394-762insGTTCATATATATTCATATATATATGTTCAT ATATATTCATATATATGTTCATATATATATTCATATATATGTTCATATAT ATTCATATATATGTTCATATATATATTCATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar

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