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
BCO1_chr16_81233689_81296142	81244407	T T	TAAAAAAT others(308): Show TAAAAAATTGCGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01255.hp1 HG02698.hp1 HG00099.hp2 HG01255.hp1 HG02698.hp1	a0002 a0005 a0002 a0005	a0002c0006 a0005c0010 a0002c0006 a0005c0010	a0002c0006t0001 a0005c0010t0001 a0002c0006t0001 a0005c0010t0001	a0002c0006t0001g0311 a0002c0006t0001g0312 a0005c0010t0001g0343 a0002c0006t0001g0311 a0002c0006t0001g0312 a0005c0010t0001g0343	3	402	0.0075	315	c.65- others(330): Show c.65-1058_65-1057insGGCCGGGCGCGGTGGCTCAAGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTGC	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
BDH1_chr3_197504783_197560968	197517781	T T	TCAGTCAC others(308): Show TCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCTTCAGGCCGACCCCCC CATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCGACCCC CCCCAGTCACTTCCTGCTCTATGGTCTCCATCTCCCCCTCAGGCTGACCC CCCCAATCAGTCACTTCCTGCTGTATGTCTCCATCCCCTCCTCAGGCTGA CCCCCCCACCCCATCAGTCATTTCCTGCTCTATGGTCTCCATCCCCCCTC AGGCCGACCCCCTCATCAGTCATTTCCTGCTCTATGGTCTCCATCCCCCC TCAGGCCGACCCCCCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0071 a0001c0003t0071	a0001c0003t0071g0069 a0001c0003t0071g0069	1	319	0.0031	315	c.410 others(332): Show c.410-3366_410-3365insGGGGGGGTCGGCCTGAGGGGGGATGGAG ACCATAGAGCAGGAAATGACTGATGAGGGGGTCGGCCTGAGGGGGGATGG AGACCATAGAGCAGGAAATGACTGATGGGGTGGGGGGGTCAGCCTGAGGA GGGGATGGAGACATACAGCAGGAAGTGACTGATTGGGGGGGTCAGCCTGA GGGGGAGATGGAGACCATAGAGCAGGAAGTGACTGGGGGGGGTCGGCCTG AGGGGGGATGGAGACCATAGAGCAGGAAGTGACTGATGGGGGGGTCGGCC TGAAGGGGGATGGAGACCATAGAGCAGGAAGTGACTG	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BICD1_chr12_32101847_32388633	32252110	A A	ATATTATA others(308): Show ATATTATATATTTATAATAAATATATATTATATATTTATATTATATATTT ATTATAAATATATAATATATATTTATAATAAATATTATATATTATATATT ATATTTATAATAAATATTATATATTATATATTATATTTATAATAAATATT ATATATTATATATTATATTTATAATAAATATTATATATTATATATTATAT TTATAATAAATATTATATATTATATATTATATTTATAATAAATATTCTAT ATTATATATTATATTTATAATAAATATTCTATATTATATATTATATTTAT AATAAATATTCTATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0084 a0001c0001t0009g0084	1	290	0.0035	315	c.426 others(334): Show c.426+35654_426+35655insTATATATTTATAATAAATATATATTA TATATTTATATTATATATTTATTATAAATATATAATATATATTTATAATA AATATTATATATTATATATTATATTTATAATAAATATTATATATTATATA TTATATTTATAATAAATATTATATATTATATATTATATTTATAATAAATA TTATATATTATATATTATATTTATAATAAATATTATATATTATATATTAT ATTTATAATAAATATTCTATATTATATATTATATTTATAATAAATATTCT ATATTATATATTATATTTATAATAAATATTCTATATTAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BIN1_chr2_127043032_127112154	127105467	C C	CCCTCCTC others(308): Show CCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	344	0.0029	315	c.84+ others(330): Show c.84+1392_84+1393insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG	BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/18			chr2	TogoVar
BMAL2_chr12_27327836_27430286	27358971	G G	GTGACTAA others(308): Show GTGACTAAGGATCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGCTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGTGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03041.hp2 HG02723.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0256 a0001c0001t0022g0257 a0001c0001t0022g0256 a0001c0001t0022g0257	2	310	0.0065	315	c.32- others(330): Show c.32-9277_32-9276insTTTTTTTTTTTTTTTTTTTGAGATGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGCTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGTGCCCGGCCATGACTAAGGATCTT	BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
BTAF1_chr10_91918770_92036437	92012179	C C	CCCTCCCC others(308): Show CCCTCCCCTCCTCCCCTCCCCTCCTCTCCCCTCCTCCCCTCCCCTCCTCT CCTCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCCCTTCTCCCCTCCCCTCCCCTCCTCCC CTCCCCTCCCCTTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03490.hp2 HG03492.hp1 HG02698.hp2 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116	3	330	0.0091	315	c.431 others(332): Show c.4311+766_4311+767insTCCCCTCCTCCCCTCCCCTCCTCTCCCC TCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCTCCCCT CCCCTCCCCTCCCCTCCTCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTTCTCC CCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTTCTCCCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTD_chr3_15596745_15658714	15597657	T T	TGGATCAT others(308): Show TGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02572.hp2 HG02886.hp2 others(8): Show HG02145.hp2 HG02572.hp2 HG02886.hp2 HG03579.hp1 NA18747.hp2 NA18959.hp1 NA18960.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0023 a0001c0002t0004 others(2): Show a0001c0001t0004 a0001c0001t0023 a0001c0002t0004 a0001c0002t0034 a0001c0002t0042	a0001c0001t0004g0230 a0001c0001t0023g0229 a0001c0001t0023g0244 others(8): Show a0001c0001t0004g0230 a0001c0001t0023g0229 a0001c0001t0023g0244 a0001c0002t0004g0212 a0001c0002t0004g0215 a0001c0002t0004g0217 a0001c0002t0004g0224 a0001c0002t0004g0226 a0001c0002t0004g0240 a0001c0002t0034g0007 a0001c0002t0042g0007	11	416	0.0264	315	c.-42 others(326): Show c.-4254_-4253insGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCC CGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGC	BTD	ENSG00000169814.17	transcript	ENST00000643237.3	protein_coding		4087		chr3	TogoVar
C20orf96_chr20_265863_295750	279062	G G	GGGAGGGA others(308): Show GGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGG GAGGGAGGGCGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGA GGGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGG GAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGC GGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGG AGGGCGGGACGGAGGGTGGGAGGGAGGGTGGGAGGGAGGGAGGGATGGAG GGAGGGCGGGCGGGAC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0253 a0001c0003t0001g0253	1	410	0.0024	315	c.465 others(330): Show c.465+109_465+110insGTCCCGCCCGCCCTCCCTCCATCCCTCCCT CCCTCCCACCCTCCCTCCCACCCTCCGTCCCGCCCTCCCTCCCTCCGTCC CGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTC CCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGTCCC GCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTC CCGCCGTCCCGCCCTCCGTCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCC TCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CA10_chr17_51625320_52163714	51972366	C C	CAAGATTA others(308): Show CAAGATTATCGATGGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01256.hp2 HG01258.hp1 others(10): Show HG00544.hp2 HG01256.hp2 HG01258.hp1 HG01884.hp1 HG02055.hp1 HG02056.hp1 HG02572.hp2 HG02615.hp1 HG02809.hp1 HG03041.hp2 HG03704.hp2 NA18950.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0041 a0001c0001t0001g0111 a0001c0001t0001g0115 others(10): Show a0001c0001t0001g0041 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0152 a0001c0001t0002g0008 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0127 a0001c0001t0003g0068 a0001c0001t0003g0114 a0001c0001t0003g0138 a0001c0002t0001g0089 a0001c0002t0001g0144	13	156	0.0833	315	c.137 others(334): Show c.137-41235_137-41234insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCACCATCGATAATCTT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	2/8			chr17	TogoVar
CA8_chr8_60180412_60286400	60282281	T T	TTCCTGTG others(308): Show TTCCTGTGCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTATATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG03195.hp1 HG02572.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0030 a0001c0005t0032 a0001c0002t0030 a0001c0005t0032	a0001c0002t0030g0089 a0001c0005t0032g0092 a0001c0002t0030g0089 a0001c0005t0032g0092	2	344	0.0058	315	c.-11 others(326): Show c.-1135_-1134insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAGGCACAGGA	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding		882		chr8	TogoVar
CADM2_chr3_84953989_86079429	85853102	T T	TAAAAAAA others(308): Show TAAAAAAATTCTTTCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0002 a0001c0001t0052g0002	1	146	0.0069	315	c.239 others(334): Show c.239-30174_239-30173insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATTCTTTCC	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CAMK1D_chr10_12344547_12840545	12415208	T T	TAAAAACA others(308): Show TAAAAACAAAGTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01346.hp1 HG02886.hp2 others(4): Show HG01261.hp1 HG01346.hp1 HG02886.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0037 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0037 a0001c0001t0069 a0001c0001t0082 a0001c0001t0086 a0001c0002t0032	a0001c0001t0002g0003 a0001c0001t0003g0004 a0001c0001t0037g0011 others(4): Show a0001c0001t0002g0003 a0001c0001t0003g0004 a0001c0001t0037g0011 a0001c0001t0069g0044 a0001c0001t0082g0067 a0001c0001t0086g0181 a0001c0002t0032g0008	7	214	0.0327	315	c.92+ others(332): Show c.92+65310_92+65311insGGCTGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAGTG	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK4_chr5_111219384_111499886	111321444	A A	AAGGAGTA others(308): Show AAGGAGTAATTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTG GGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGCATTTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGCGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA20129.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0131 a0001c0001t0103 a0001c0001t0131	a0001c0001t0103g0162 a0001c0001t0131g0034 a0001c0001t0103g0162 a0001c0001t0131g0034	2	246	0.0081	315	c.162 others(334): Show c.162-22566_162-22565insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGCAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGC ATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGCGAGCCACCGCGCCCGGCCAGGAGTAATTTTCT	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMKMT_chr2_44356947_44777592	44598696	T T	TAAAATCA others(308): Show TAAAATCAGAAGTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG03516.hp1 HG01891.hp1 HG02055.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0100 a0001c0001t0001g0162 a0001c0001t0001g0004 a0001c0001t0001g0100 a0001c0001t0001g0162	3	198	0.0152	315	c.377 others(336): Show c.377-105572_377-105571insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAATCAGAAGTCCT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CANT1_chr17_78986716_79014764	79004293	G G	GGAGAGGG others(308): Show GGAGAGGGGAGCTGGGGGGGAGTTATGGAGCAAGGAGTTAGGGAGGGGGG AGTTAGGGAGATGGGAGTTAGGGAGAGGGGAGCTAGGGAGAGGGGGGTTA GGGAGGGGGGAGTTAGGGAAGGGGGAGTTAGGGAGGGGAGTTAGGGAGAG GGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGGGTTAGGGAGAGGGGAGTT AGTGAGTGGGGAGTTAGGGAGGGGGAGTTAGGGAGAGGGGGCTTAGGGAG GGGGGAGTTAGGGAGAGGGGAGTTAGGGAGAGGAGTTGGGGGGGAGTTAG GGAGGGGTGTTAGGGA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0236 a0003c0007t0006g0236	1	394	0.0025	315	c.-14 others(334): Show c.-147+5370_-147+5371insTCCCTAACACCCCTCCCTAACTCCCC CCCAACTCCTCTCCCTAACTCCCCTCTCCCTAACTCCCCCCTCCCTAAGC CCCCTCTCCCTAACTCCCCCTCCCTAACTCCCCACTCACTAACTCCCCTC TCCCTAACCCCCCTCTCCCTAACTCCCCTCCCTAACTCCCCTCTCCCTAA CTCCCCTCCCTAACTCCCCCTTCCCTAACTCCCCCCTCCCTAACCCCCCT CTCCCTAGCTCCCCTCTCCCTAACTCCCATCTCCCTAACTCCCCCCTCCC TAACTCCTTGCTCCATAACTCCCCCCCAGCTCCCCTCTC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANX_chr5_179693967_179736641	179695492	G G	GCTAATTT others(308): Show GCTAATTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGTGTAG CTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0224 a0001c0001t0005g0224	1	380	0.0026	315	c.-36 others(326): Show c.-3614_-3613insCTAATTTTGTATTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGACTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCTGTGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTA ATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGC	CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding		3474		chr5	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(308): Show GAGGGAGGGAGGAGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAGG AGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGGG GAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTGA GAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAGGG AGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGGGG GGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAGGGA GAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0229 a0003c0004t0001g0229	1	276	0.0036	315	c.286 others(332): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCTCCTTCT CCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCTC CTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCTC TCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCCCC CCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCCC CTCTTTCCCTTCCCCCTCCCCCTCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(308): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGAGGGGGG GAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTGA GAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAGGG AGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGGGG GGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAGGGA GAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02132.hp1 HG02055.hp1 HG02132.hp1	a0002 a0005 a0002 a0005	a0002c0021 a0005c0020 a0002c0021 a0005c0020	a0002c0021t0001 a0005c0020t0001 a0002c0021t0001 a0005c0020t0001	a0002c0021t0001g0032 a0005c0020t0001g0037 a0002c0021t0001g0032 a0005c0020t0001g0037	2	276	0.0073	315	c.286 others(332): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCTCCTTCT CCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCTC CTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCTC TCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCCCC CAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCCCC TCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(308): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTGA GAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAGGG AGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGGGG GGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGGAGGGA GAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0002 a0001c0042t0002	a0001c0042t0002g0193 a0001c0042t0002g0193	1	276	0.0036	315	c.286 others(332): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTCCCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCTCCTTCT CCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCTC CTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCTC TCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCTCCCCCC CAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCCCC TCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(308): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTGA GAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGGAGG GAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGGG GGGAGGGAGAGAGAGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGGAGGGA GAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0190 a0001c0002t0002g0190	1	276	0.0036	315	c.286 others(332): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTCCCCCTT CTCTCCCTCCCCACTCCCTCCCCCTCTCTCTCCCTCCCCCCCTCCTTCTC CCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCCTC CTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCTC TCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCTCCCCCC CAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCCCC TCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(308): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGTTGAG AAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGGAGGG AGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGGGG GGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGGAGGGA GAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0002 a0001c0043t0002	a0001c0043t0002g0201 a0001c0043t0002g0201	1	276	0.0036	315	c.286 others(332): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTCCCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCTCCTTCT CCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCCT CCTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCTCTC TCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCTCCCCCC CAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCCCC TCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(308): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTG AGAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAGG GAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGGG GGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGGAGGGA GAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0058 a0003c0008t0001g0058	1	276	0.0036	315	c.286 others(332): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTCCCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCTCCTTCTC CCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCTCC TCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCTCT CTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCCCCC CAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCCCC TCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(308): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTG AGAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAGG GAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGGG GGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAGGGA GAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(94): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01169.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03669.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04204.hp2 HG04228.hp2 NA18906.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18964.hp2 NA18971.hp1 NA18973.hp1 NA18980.hp2 NA18983.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19062.hp2 NA19066.hp2 NA19088.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0010 a0011 a0012 a0013 a0014	a0001c0003 a0001c0006 a0001c0007 others(15): Show a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0016 a0002c0001 a0002c0013 a0002c0036 a0002c0038 a0003c0005 a0003c0008 a0003c0009 a0003c0028 a0010c0029 a0011c0037 a0012c0035 a0013c0040 a0014c0034	a0001c0003t0001 a0001c0006t0001 a0001c0007t0001 others(17): Show a0001c0003t0001 a0001c0006t0001 a0001c0007t0001 a0001c0010t0001 a0001c0016t0001 a0002c0001t0001 a0002c0001t0009 a0002c0001t0013 a0002c0013t0001 a0002c0036t0001 a0002c0038t0001 a0003c0005t0001 a0003c0008t0001 a0003c0009t0001 a0003c0028t0001 a0010c0029t0001 a0011c0037t0001 a0012c0035t0001 a0013c0040t0001 a0014c0034t0001	a0001c0003t0001g0008 a0001c0003t0001g0128 a0001c0003t0001g0147 others(90): Show a0001c0003t0001g0008 a0001c0003t0001g0128 a0001c0003t0001g0147 a0001c0003t0001g0150 a0001c0003t0001g0176 a0001c0003t0001g0178 a0001c0003t0001g0189 a0001c0003t0001g0194 a0001c0003t0001g0202 a0001c0003t0001g0251 a0001c0006t0001g0023 a0001c0006t0001g0024 a0001c0006t0001g0025 a0001c0006t0001g0026 a0001c0006t0001g0027 a0001c0006t0001g0028 a0001c0006t0001g0029 a0001c0007t0001g0003 a0001c0007t0001g0134 a0001c0007t0001g0249 a0001c0010t0001g0130 a0001c0016t0001g0135 a0001c0016t0001g0141 a0001c0016t0001g0144 a0002c0001t0001g0004 a0002c0001t0001g0059 a0002c0001t0001g0075 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0080 a0002c0001t0001g0082 a0002c0001t0001g0083 a0002c0001t0001g0085 a0002c0001t0001g0087 a0002c0001t0001g0090 a0002c0001t0001g0091 a0002c0001t0001g0093 a0002c0001t0001g0096 a0002c0001t0001g0097 a0002c0001t0001g0099 a0002c0001t0001g0103 a0002c0001t0001g0104 a0002c0001t0001g0108 a0002c0001t0001g0109 a0002c0001t0001g0110 a0002c0001t0001g0111 a0002c0001t0001g0112 a0002c0001t0001g0114 a0002c0001t0001g0115 a0002c0001t0001g0116 a0002c0001t0001g0117 a0002c0001t0001g0118 a0002c0001t0001g0120 a0002c0001t0001g0136 a0002c0001t0001g0137 a0002c0001t0001g0138 a0002c0001t0001g0151 a0002c0001t0001g0152 a0002c0001t0001g0153 a0002c0001t0001g0156 a0002c0001t0001g0157 a0002c0001t0001g0158 a0002c0001t0001g0159 a0002c0001t0001g0160 a0002c0001t0001g0161 a0002c0001t0001g0162 a0002c0001t0001g0163 a0002c0001t0001g0165 a0002c0001t0001g0166 a0002c0001t0001g0167 a0002c0001t0001g0171 a0002c0001t0009g0106 a0002c0001t0009g0119 a0002c0001t0013g0076 a0002c0013t0001g0131 a0002c0013t0001g0132 a0002c0013t0001g0133 a0002c0036t0001g0094 a0002c0038t0001g0074 a0003c0005t0001g0010 a0003c0005t0001g0213 a0003c0005t0001g0215 a0003c0005t0001g0227 a0003c0005t0001g0228 a0003c0005t0001g0232 a0003c0008t0001g0038 a0003c0009t0001g0046 a0003c0028t0001g0053 a0010c0029t0001g0048 a0011c0037t0001g0107 a0012c0035t0001g0084 a0013c0040t0001g0092 a0014c0034t0001g0223	97	276	0.3515	315	c.286 others(332): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCTCCTTCTC CCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCTCC TCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCTCT CTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCCCCC CAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCCCC TCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(308): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTG AGAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAGG GAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGGG GGGAGGGAGAGAGGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAGGGA GAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02559.hp1 HG02615.hp2 others(1): Show HG01167.hp2 HG02559.hp1 HG02615.hp2 HG03579.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0001 a0002c0022 others(1): Show a0001c0003 a0002c0001 a0002c0022 a0003c0008	a0001c0003t0001 a0002c0001t0008 a0002c0022t0004 others(1): Show a0001c0003t0001 a0002c0001t0008 a0002c0022t0004 a0003c0008t0001	a0001c0003t0001g0127 a0002c0001t0008g0169 a0002c0022t0004g0034 others(1): Show a0001c0003t0001g0127 a0002c0001t0008g0169 a0002c0022t0004g0034 a0003c0008t0001g0056	4	276	0.0145	315	c.286 others(332): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCCTCCCCCCCTCTCTCCCTCCCCCCCTCCTTCTC CCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCTCC TCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCTCT CTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCCCCC CAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCCCC TCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(308): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGTGG GGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTG AGAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAGG GAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGGG GGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAGGGA GAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0122 a0002c0001t0001g0122	1	276	0.0036	315	c.286 others(332): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCTCCTTCTC CCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCTCC TCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCTCT CTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCACCTCCCCCC CAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCCCC TCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CATSPERB_chr14_91575698_91737086	91658709	T T	TAAAAAAA others(308): Show TAAAAAAAGGAAGGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0149 a0002c0003t0001g0149	1	271	0.0037	315	c.143 others(334): Show c.1432+1127_1432+1128insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTCCCTTCCTTTTTTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	15/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91658709	T T	TAAAAAAA others(308): Show TAAAAAAAGGAAGGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp2 HG01168.hp1 others(62): Show HG00735.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02280.hp2 HG02300.hp1 HG02559.hp2 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG03017.hp1 HG03209.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18950.hp2 NA18956.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18982.hp2 NA18990.hp1 NA18997.hp1 NA19012.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp1 NA19064.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19085.hp2 NA19087.hp2 NA19091.hp1 NA20905.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0006c0010t0001	a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0036 others(62): Show a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0111 a0001c0001t0001g0133 a0001c0001t0001g0152 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0002g0033 a0001c0001t0002g0175 a0001c0001t0002g0181 a0001c0002t0001g0140 a0001c0002t0001g0154 a0001c0002t0001g0178 a0001c0002t0002g0076 a0001c0002t0002g0085 a0001c0002t0002g0099 a0001c0002t0002g0136 a0001c0002t0002g0189 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0262 a0002c0003t0001g0145 a0006c0010t0001g0125	65	271	0.2399	315	c.143 others(334): Show c.1432+1127_1432+1128insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCAATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTCCCTTCCTTTTTTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	15/26			chr14	TogoVar
CBFA2T3_chr16_88869858_88982207	88933252	G G	GCACGCCT others(308): Show GCACGCCTCACAGTGCCACACGTCTGCACGCCTCTGCACACGTCACGTGC CTCTATACGCCTCACACGCCTCACAGTGCCACACGTCTGCACGCCTCTGC ACACGTCACGTGCCTCTATACGCCTCACACGCCTCACAGTGCCACACGTC TGCACGCCTCTGCACACGTCACGTGCCTCTATACGCCTCACACGCCTCAC AGTGCCACACGTCTGCACGCCTCTGCACACGTCACGTGCCTCTATACGCC TCACACGCCTCACAGTGCCACACGTCTGCACGCCTCTGCACACGTCACGT GCCTCTATACGCCTCA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03195.hp1 HG02486.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0002 a0001c0016t0005 a0001c0001t0002 a0001c0016t0005	a0001c0001t0002g0265 a0001c0016t0005g0069 a0001c0001t0002g0265 a0001c0016t0005g0069	2	284	0.0070	315	c.152 others(334): Show c.152-31911_152-31597dupTGAGGCGTATAGAGGCACGTGACGTG TGCAGAGGCGTGCAGACGTGTGGCACTGTGAGGCGTGTGAGGCGTATAGA GGCACGTGACGTGTGCAGAGGCGTGCAGACGTGTGGCACTGTGAGGCGTG TGAGGCGTATAGAGGCACGTGACGTGTGCAGAGGCGTGCAGACGTGTGGC ACTGTGAGGCGTGTGAGGCGTATAGAGGCACGTGACGTGTGCAGAGGCGT GCAGACGTGTGGCACTGTGAGGCGTGTGAGGCGTATAGAGGCACGTGACG TGTGCAGAGGCGTGCAGACGTGTGGCACTGTGAGGCGTG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCBE1_chr18_59425939_59702423	59482875	T T	TAAATTAC others(308): Show TAAATTACCGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp2 HG02698.hp1 others(2): Show HG02572.hp2 HG02615.hp2 HG02698.hp1 HG02738.hp2 HG04184.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0002c0002t0001	a0001c0001t0001g0226 a0001c0001t0002g0174 a0001c0001t0003g0086 others(2): Show a0001c0001t0001g0226 a0001c0001t0002g0174 a0001c0001t0003g0086 a0001c0001t0014g0090 a0002c0002t0001g0003	5	242	0.0207	315	c.213 others(332): Show c.213-2638_213-2637insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAACGGTAATTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCDC146_chr7_77117615_77300204	77229765	T T	TTACACAG others(308): Show TTACACAGAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA21309.hp2 HG00639.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0007 a0003c0003 a0001c0007 a0003c0003	a0001c0007t0002 a0003c0003t0001 a0001c0007t0002 a0003c0003t0001	a0001c0007t0002g0130 a0003c0003t0001g0039 a0001c0007t0002g0130 a0003c0003t0001g0039	2	248	0.0081	315	c.157 others(332): Show c.157-7169_157-7168insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTACACAGAAAATT	CCDC146	ENSG00000135205.15	transcript	ENST00000285871.5	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC148_chr2_158166073_158461753	158426109	T T	TAAAACTG others(308): Show TAAAACTGTGGTAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	264	0.0038	315	c.25+ others(332): Show c.25+30305_25+30306insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCGCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCCCTACCACAGTTTT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC148_chr2_158166073_158461753	158428619	T T	TAAAAAGT others(308): Show TAAAAAGTCAGGAAACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATT AGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGA TCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTCCATCTCAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02965.hp2 HG01169.hp1 HG02965.hp2	a0003 a0004 a0003 a0004	a0003c0006 a0004c0003 a0003c0006 a0004c0003	a0003c0006t0003 a0004c0003t0001 a0003c0006t0003 a0004c0003t0001	a0003c0006t0003g0096 a0004c0003t0001g0025 a0003c0006t0003g0096 a0004c0003t0001g0025	2	264	0.0076	315	c.25+ others(332): Show c.25+27795_25+27796insTTTTTTTTTTTTTTTTTTTGAGATGGAG TTTCGCTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATT TTTAGTAGAGACGGGGTTTCACCATGTCAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTGTTTCCTGACTTTTT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC171_chr9_15548043_15979037	15831809	A A	ACAAAACT others(308): Show ACAAAACTGCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGACTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02965.hp1 HG03041.hp2 others(1): Show HG01891.hp2 HG02965.hp1 HG03041.hp2 NA18522.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0032 a0006c0006t0003g0033 a0006c0006t0003g0034 others(1): Show a0006c0006t0003g0032 a0006c0006t0003g0033 a0006c0006t0003g0034 a0006c0006t0003g0035	4	266	0.0150	315	c.326 others(336): Show c.3268-14879_3268-14878insTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGACTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCAAAACTGCCTTTT	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC172_chr10_116319448_116385029	116370181	C C	CTACACAA others(308): Show CTACACAACCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTAT TTTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01934.hp1 HG01978.hp2 others(8): Show HG00558.hp2 HG01934.hp1 HG01978.hp2 HG01993.hp2 HG02148.hp2 NA18939.hp1 NA18952.hp2 NA18994.hp1 NA18999.hp1 NA19003.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0165 a0001c0001t0002g0246 others(5): Show a0001c0001t0002g0006 a0001c0001t0002g0165 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0262	11	338	0.0325	315	c.654 others(332): Show c.654-8229_654-8228insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTTGTATTTTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGTACACAACCTTTT	CCDC172	ENSG00000182645.6	transcript	ENST00000333254.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
CD163_chr12_7465811_7508777	7471584	T T	TAAGATTA others(308): Show TAAGATTAAGAAATGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCGGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0190 a0001c0003t0001g0190	1	428	0.0023	315	c.32 others(330): Show c.32-188_*32-187insTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCTGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCGGCATTTCTTAATCTT	CD163	ENSG00000177575.13	transcript	ENST00000432237.3	protein_coding	16/16			chr12	TogoVar
CD163_chr12_7465811_7508777	7471584	T T	TAAGATTA others(308): Show TAAGATTAAGAAATGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG01123.hp1 others(37): Show HG00609.hp1 HG00639.hp2 HG01123.hp1 HG01256.hp1 HG01258.hp1 HG01515.hp1 HG01517.hp1 HG02015.hp2 HG02027.hp1 HG02165.hp1 HG02300.hp1 HG03098.hp1 HG03579.hp1 HG03710.hp2 NA18939.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18968.hp1 NA18970.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA18988.hp2 NA18993.hp1 NA18997.hp2 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19078.hp1 NA19081.hp2 NA19084.hp2 NA19090.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0002c0002t0001	a0001c0001t0001g0230 a0001c0001t0001g0249 a0001c0001t0001g0250 others(28): Show a0001c0001t0001g0230 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0271 a0001c0001t0001g0289 a0001c0001t0001g0299 a0001c0003t0001g0017 a0001c0003t0001g0029 a0001c0003t0001g0062 a0001c0003t0001g0071 a0001c0003t0001g0166 a0001c0003t0001g0183 a0001c0003t0001g0186 a0001c0003t0001g0189 a0001c0005t0001g0008 a0001c0005t0001g0191 a0001c0005t0001g0192 a0001c0005t0001g0193 a0001c0005t0001g0194 a0001c0005t0001g0195 a0001c0005t0001g0196 a0001c0005t0001g0197 a0001c0005t0001g0200 a0001c0005t0001g0214 a0001c0005t0001g0221 a0002c0002t0001g0007 a0002c0002t0001g0098 a0002c0002t0001g0101 a0002c0002t0001g0127 a0002c0002t0001g0129 a0002c0002t0001g0150	40	428	0.0935	315	c.32 others(330): Show c.32-188_*32-187insTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCGGCATTTCTTAATCTT	CD163	ENSG00000177575.13	transcript	ENST00000432237.3	protein_coding	16/16			chr12	TogoVar
CD209_chr19_7734993_7752534	7739125	A A	ACAAAAAA others(308): Show ACAAAAAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 NA18968.hp2 HG02523.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	454	0.0044	315	c.39 others(326): Show c.3913_*3914insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAATTTTTTG	CD209	ENSG00000090659.18	transcript	ENST00000315599.12	protein_coding		867		chr19	TogoVar
CD44_chr11_35134171_35237402	35234841	T T	TAAAACAA others(308): Show TAAAACAATCAATGTTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGAGC GCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAAGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGC CTGGGCTACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0359 a0001c0002t0005g0359	1	378	0.0027	315	c.55 others(326): Show c.5508_*5509insAAAACAATCAATGTTGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTAGCGAGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCTACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CD44	ENSG00000026508.21	transcript	ENST00000428726.8	protein_coding		2440		chr11	TogoVar
CD48_chr1_160673746_160716822	160700779	T T	TAAAGAAT others(308): Show TAAAGAATCTCTCCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0351 a0001c0005t0003g0351	1	442	0.0023	315	c.82+ others(332): Show c.82+10902_82+10903insTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTAGGAGAGATTCTTT	CD48	ENSG00000117091.10	transcript	ENST00000368046.8	protein_coding	1/3			chr1	TogoVar
CDH5_chr16_66361691_66409784	66379928	T T	TTGGTGGT others(308): Show TTGGTGGTGATCACGGTGATGGTGGTGATGATAAAGGGGTAGGTGTTGGT GGTGATCACGGTGATGGTGGTGATGATAAAGGGGTAGGTGTTGGTGGTGA TCATGGTGATGGTGGTGATGATAAAGGGGTAGGTGTTGGTGGTGATCACG GTGATGGTGGTGATGATAAAGGGGTAGGTGGTGGTGGTGATCATGGTGAT GGTGGTGATGATAAAGGGGTAGGTGTTGGTGGTGATCACGGTGATGGTGG TGATGATAAAGGGGTAGGTGGTGGTGGTGATCATGGTGATGGTGGTGATG ATAAAGGGGTAGGTGG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	404	0.0025	315	c.210 others(330): Show c.210+470_210+471insTTGGTGGTGATCATGGTGATGGTGGTGATG ATAAAGGGGTAGGTGTTGGTGGTGATCACGGTGATGGTGGTGATGATAAA GGGGTAGGTGGTGGTGGTGATCATGGTGATGGTGGTGATGATAAAGGGGT AGGTGTTGGTGGTGATCACGGTGATGGTGGTGATGATAAAGGGGTAGGTG GTGGTGGTGATCATGGTGATGGTGGTGATGATAAAGGGGTAGGTGGTGGT GGTGATCACGGTGATGGTGGTGATGATAAAGGGGTAGGTGTTGGTGGTGA TCACGGTGATGGTGGTGATGATAAAGGGGTAGGTG	CDH5	ENSG00000179776.20	transcript	ENST00000341529.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDHR1_chr10_84189537_84223694	84223487	G G	GTTAATTG others(308): Show GTTAATTGGGTATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG01123.hp2 HG01981.hp1 others(22): Show HG00609.hp2 HG01123.hp2 HG01981.hp1 HG02129.hp2 HG02602.hp2 HG02698.hp2 HG02735.hp2 HG03239.hp2 NA18940.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp1 NA18966.hp1 NA18977.hp1 NA18980.hp1 NA18993.hp1 NA19009.hp2 NA19056.hp2 NA19064.hp2 NA19077.hp2 NA19083.hp2 NA19087.hp2 NA19091.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0015 a0001c0002t0002g0029 others(13): Show a0001c0002t0002g0009 a0001c0002t0002g0015 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0040 a0001c0002t0002g0060 a0001c0002t0002g0063 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0074 a0001c0002t0002g0078 a0001c0002t0002g0109 a0001c0002t0002g0120 a0001c0002t0002g0141	25	388	0.0644	315	c.88 others(326): Show c.8866_*8867insTTAATTGGGTATTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCC	CDHR1	ENSG00000148600.15	transcript	ENST00000623527.4	protein_coding		4794		chr10	TogoVar
CDKAL1_chr6_20529457_21237404	20887675	T T	TAGGATTA others(308): Show TAGGATTACTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGTAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02109.hp1 HG02258.hp1 others(6): Show HG01515.hp1 HG02109.hp1 HG02258.hp1 HG02647.hp2 HG02723.hp2 HG02897.hp2 HG03041.hp1 HG06807.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0012 a0002c0003 a0002c0007	a0001c0001t0001 a0001c0001t0006 a0001c0002t0043 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0043 a0001c0005t0001 a0001c0005t0021 a0001c0012t0008 a0002c0003t0003 a0002c0007t0030 a0002c0007t0036	a0001c0001t0001g0007 a0001c0001t0006g0011 a0001c0002t0043g0190 others(6): Show a0001c0001t0001g0007 a0001c0001t0006g0011 a0001c0002t0043g0190 a0001c0005t0001g0009 a0001c0005t0021g0026 a0001c0012t0008g0129 a0002c0003t0003g0107 a0002c0007t0030g0025 a0002c0007t0036g0024	9	196	0.0459	315	c.742 others(334): Show c.742+41510_742+41511insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGTAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCAGGATTACTTTCT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CELF4_chr18_37238040_37570798	37338381	T T	TGTCACTG others(308): Show TGTCACTGACACCATTGTCACCACTATCATTGTCACCACTACTGTCACTG CCACCACCACCACTGTCGCTGCCACCATCTGTTACCTTAACCTTGTCACT ATGACTGTCACTGACACCATTGTCACCACTATCATTGTCACCACTACTGT CACTGCCACCACCACCACTGTCGCTGCCACCATCTGTTACCTTAACCTTG TCACTATGACTGTCACTGACACCATTGTCACCACTATCATTGTCACCACT ACTGTCACTGCCACCACCACCACTGTCGCTGCCACCATCTGTTACCTTAA CCTTGTCACTATGACC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0024 a0001c0001t0004g0025	2	184	0.0109	315	c.370 others(334): Show c.370-16501_370-16500insGGTCATAGTGACAAGGTTAAGGTAAC AGATGGTGGCAGCGACAGTGGTGGTGGTGGCAGTGACAGTAGTGGTGACA ATGATAGTGGTGACAATGGTGTCAGTGACAGTCATAGTGACAAGGTTAAG GTAACAGATGGTGGCAGCGACAGTGGTGGTGGTGGCAGTGACAGTAGTGG TGACAATGATAGTGGTGACAATGGTGTCAGTGACAGTCATAGTGACAAGG TTAAGGTAACAGATGGTGGCAGCGACAGTGGTGGTGGTGGCAGTGACAGT AGTGGTGACAATGATAGTGGTGACAATGGTGTCAGTGAC	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELSR1_chr22_46356174_46542620	46487657	A A	AGGGTGCA others(308): Show AGGGTGCAGGTGGGGGGCGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGG GGCGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGCGCGGGGGAGGGG AGTCCAGGGTGCAGGTGGGGGGCGCGGGGGAGGGGAGTCCAGGGTGCAGG TGGGGGGTGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGCGTGGGGG AGGGGAGTCCAGGGTGCAGGTGGGGGGTGCGGGGGAGGGGAGTCCAGGGT GCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGCACGGAGGAGGGGAGT CCAGGGTGCAGGTGGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp2 HG02922.hp1 others(1): Show HG02486.hp1 HG02615.hp2 HG02922.hp1 HG02922.hp2	a0004 a0022 a0029 others(1): Show a0004 a0022 a0029 a0030	a0004c0016 a0022c0010 a0029c0064 others(1): Show a0004c0016 a0022c0010 a0029c0064 a0030c0058	a0004c0016t0003 a0022c0010t0001 a0029c0064t0001 others(1): Show a0004c0016t0003 a0022c0010t0001 a0029c0064t0001 a0030c0058t0004	a0004c0016t0003g0025 a0022c0010t0001g0007 a0029c0064t0001g0098 others(1): Show a0004c0016t0003g0025 a0022c0010t0001g0007 a0029c0064t0001g0098 a0030c0058t0004g0096	4	104	0.0385	315	c.354 others(336): Show c.3545-23313_3545-23312insCCCACCTGCACCCTGGACTCCCCT CCTCCGTGCCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCACCCTGGA CTCCCCTCCCCCGCACCCCCCACCTGCACCCTGGACTCCCCTCCCCCACG CCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCACCCCCCACCTGCACC CTGGACTCCCCTCCCCCGCGCCCCCCACCTGCACCCTGGACTCCCCTCCC CCGCGCCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCGCCCCCCACCT GCACCCTGGACTCCCCTCCCCCGCGCCCCCCACCTGCACCC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34			chr22	TogoVar
CEMIP_chr15_80774370_80956771	80911941	C C	CAGAGGCT others(308): Show CAGAGGCTGGGATTGCTGGGAAAGGCTGGGAGAGCTGGGAGAGGCTGTGA GAGCTGGGAGAGGCTGTGATTGCTGGGAGAGGCTGGGAGAGGCTGGGAGA GCTGGGAGAGGCTGAGATTGCTGGGAAAGGCTGGGAGAGCTGGGAGAGGC TGGGAGAGCTGGGAGAGGCTGTGATTGCTGGGAGAGGCTGGGAGAGGCTG GGAGAGCTGGGAGAGGCTGAGATTGCTGGGAAAGGCTGGGAGAGCTGGGA GAGGCTGGGAGAGCTGGGAGAGGCTGTGATTGCTGGGAGAGGCTGGGAGA GGCTGGGAGAGCTGGG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	254	0.0039	315	c.179 others(334): Show c.1797+2681_1797+2682insTGAGAGCTGGGAGAGGCTGTGATTGC TGGGAGAGGCTGGGAGAGGCTGGGAGAGCTGGGAGAGGCTGAGATTGCTG GGAAAGGCTGGGAGAGCTGGGAGAGGCTGGGAGAGCTGGGAGAGGCTGTG ATTGCTGGGAGAGGCTGGGAGAGGCTGGGAGAGCTGGGAGAGGCTGAGAT TGCTGGGAAAGGCTGGGAGAGCTGGGAGAGGCTGGGAGAGCTGGGAGAGG CTGTGATTGCTGGGAGAGGCTGGGAGAGGCTGGGAGAGCTGGGAGAGGCT GGGATTGCTGGGAAAGGCTGGGAGAGCTGGGAGAGGCTG	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	14/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CENPJ_chr13_24877279_24927861	24882005	G G	GATACATC others(308): Show GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	440	0.0023	315	c.11 others(326): Show c.1171_*1172insAGATGTATCTATATATAGATGTATCTATATATAG ATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTA TCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATC TATATATAGATGTATCTATATATAGATGTAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		273		chr13	TogoVar
CERS6_chr2_168451272_168780134	168628830	T T	TAAGAACT others(308): Show TAAGAACTCTTCCCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGGTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp1 HG02922.hp2 others(2): Show HG02145.hp2 HG02486.hp1 HG02922.hp2 HG02976.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011	a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0034 others(2): Show a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0034 a0001c0001t0010g0033 a0001c0001t0011g0112	5	176	0.0284	315	c.408 others(332): Show c.408-2140_408-2139insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGGTAACACAGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAGAACTCTTCCCTG	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CFAP251_chr12_121913592_122008919	121993765	G G	GCCCGGCA others(308): Show GCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGC CACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGC CACCCCATCCGGGAGGGAGGTGGGGGGGTCAGCTCCCCGCCTGGCCAGCC GTGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGG GGGGTCAGTCCCCCGA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18978.hp1 NA18981.hp1 others(3): Show NA18942.hp1 NA18978.hp1 NA18981.hp1 NA18999.hp1 NA19055.hp2 NA19082.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0058 a0001c0009t0001g0059 a0001c0009t0001g0060 others(3): Show a0001c0009t0001g0058 a0001c0009t0001g0059 a0001c0009t0001g0060 a0001c0009t0001g0061 a0001c0009t0001g0062 a0001c0009t0001g0063	6	354	0.0170	315	c.300 others(334): Show c.3007-5945_3007-5944insAGCCACCCCATCTGGGAAGTGAGGAG CGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAG CCCCCCGCCCGGCCAGCCACCCCATCCGGGAGGGAGGTGGGGGGGTCAGC TCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCACCCCG TCCGGGAGGGAGATGGGGGGGTCAGTCCCCCGACCCGGC	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP46_chr10_132803392_132947570	132917914	T T	TGAACCCC others(308): Show TGAACCCCCCTCTCCACGACGCACCTCAGCACCGACGAACCCCCCTCTCC ACGACGCACCTCAGCACCGACGAACCCCCCTCTCCACGACGCACCTCAGC ACCGACGAACCCCCCTCTCCACGACGCACCTCAGCACCGACGAACCCCCC TCTCCACGACGCACCTCAGCACCGACGAACCCCCCTCTCCACGACGCACC TCAGCACCGACGAACCCCCCTCTCCACGACGCACCTCAGCACCGACGAAC CCCCCTCTCCACGACGCACCTCAGCACCGACGAACCCCCCTCTCCACGAC GCACCTCAGCACCGAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02895.hp2 HG01069.hp2 HG02895.hp2	a0012 a0033 a0012 a0033	a0012c0073 a0033c0074 a0012c0073 a0033c0074	a0012c0073t0002 a0033c0074t0002 a0012c0073t0002 a0033c0074t0002	a0012c0073t0002g0005 a0033c0074t0002g0006 a0012c0073t0002g0005 a0033c0074t0002g0006	2	246	0.0081	315	c.198 others(332): Show c.1986+478_1986+479insGTCGGTGCTGAGGTGCGTCGTGGAGAGG GGGGTTCGTCGGTGCTGAGGTGCGTCGTGGAGAGGGGGGTTCGTCGGTGC TGAGGTGCGTCGTGGAGAGGGGGGTTCGTCGGTGCTGAGGTGCGTCGTGG AGAGGGGGGTTCGTCGGTGCTGAGGTGCGTCGTGGAGAGGGGGGTTCGTC GGTGCTGAGGTGCGTCGTGGAGAGGGGGGTTCGTCGGTGCTGAGGTGCGT CGTGGAGAGGGGGGTTCGTCGGTGCTGAGGTGCGTCGTGGAGAGGGGGGT TCGTCGGTGCTGAGGTGCGTCGTGGAGAGGGGGGTTC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	16/57			chr10	TogoVar
CHFR_chr12_132827356_132892605	132836506	C C	CGGCGCAC others(308): Show CGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTC ACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCC CAGCACGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGCACGG CCCTCACAGTGACAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGACAG GCTCCCAGCACGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCACGGCG CACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGCACGGCACTCACAGT GACAGGCTCCCAGCAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18980.hp1 NA19009.hp2 NA18980.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0253 a0001c0001t0040g0265 a0001c0001t0040g0253 a0001c0001t0040g0265	2	378	0.0053	315	c.50 others(326): Show c.5047_*5048insCTGCTGGGAGCCTGTCACTGTGAGTGCCGTGCGC CGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTG TCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCCG TGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTGCTGGGA GCCTGTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAG TGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCCGTGCGCCGTGC TGGGAGCCTGGCACTGTGAGTGCCGTGCGCC	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5047		chr12	TogoVar

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