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
COL4A1_chr13_110143963_110312157	110255826	A A	AGGGGAAA others(377): Show AGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCA GGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGA AGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0125 a0001c0010t0001g0125	1	294	0.0034	384	c.85- others(401): Show c.85-13093_85-13092insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCC CCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL5A1_chr9_134636803_134849843	134729517	T T	TGTGTGTG others(377): Show TGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGCATGCGGGCA CGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATG CGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0003 a0001c0065t0003	a0001c0065t0003g0009 a0001c0065t0003g0009	1	177	0.0056	384	c.925 others(399): Show c.925-674_925-673insCGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTG AGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(377): Show AGGGAGGGGCTGGGCGCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGC TGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTG GGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGG CTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0339 a0001c0004t0002g0339	1	220	0.0045	384	c.630 others(399): Show c.630+123_630+124insGCCGGCGGGAGGGAGGGGCTGGGCTCCGGC GGGAGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGG GGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGA GGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGG GAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGG GGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGG CTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCT GGGC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(377): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGAGG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAG GGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGC TGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTG GGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGG CTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0057 a0001c0057	a0001c0057t0001 a0001c0057t0001	a0001c0057t0001g0300 a0001c0057t0001g0300	1	220	0.0045	384	c.630 others(399): Show c.630+155_630+156insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGG GGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCT GGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGG GCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGC TCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTC CGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCG GCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(377): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAG GGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGC TGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTG GGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGG CTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	220	0.0045	384	c.630 others(399): Show c.630+179_630+180insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGG GGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCT GGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGG GCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGC TCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTC CGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCG GCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(377): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAG GGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGC TGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTG GGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGG CTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0278 a0001c0003t0001g0278	1	220	0.0045	384	c.630 others(399): Show c.630+179_630+180insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGG GGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCT GGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGG GCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGC TCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTC CGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCG GCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(377): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAG GGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGC TGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTG GGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGG CTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0070 a0001c0001t0006g0070	1	220	0.0045	384	c.630 others(399): Show c.630+179_630+180insGGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGG GGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCT GGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGG GCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGC TCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTC CGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCG GCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COMMD9_chr11_36267292_36294424	36287046	A A	ATATGTAT others(377): Show ATATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACT ATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTAT GTATACTACATACTATGTATATCATATAGTATGTATACTACATACTATGT ATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTAT ACTACATACTATGTATATCATATAGTATGTATACTACATACTATGTATAT CATATAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTA CATACTATGTATATCATATAGTATGTATACTACATACTATGTATATCATA TAGTATGTATACTACATACTATGTATATCATATAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01123.hp1 HG01168.hp2 others(12): Show HG00621.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG02083.hp2 HG02155.hp2 HG04184.hp1 NA18947.hp2 NA18972.hp2 NA18994.hp1 NA19000.hp1 NA19057.hp2 NA19064.hp2 NA19076.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0001 a0001c0001t0003 a0001c0001t0014	a0001c0001t0001g0039 a0001c0001t0001g0131 a0001c0001t0001g0132 others(7): Show a0001c0001t0001g0039 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0003g0019 a0001c0001t0003g0048 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0014g0146	15	288	0.0521	384	c.51+ others(399): Show c.51+2315_51+2316insCTATATGATATACATAGTATGTAGTATACA TACTATATGATATACATAGTATGTAGTATACATACTATATGATATACATA GTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACT ATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGTAT GTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTATAT GATATACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAG TATACATACTATATGATATACATAGTATGTAGTATACATACTATATGATA TACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATA CATA	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287075	G G	ATAGCATG others(377): Show ATAGCATGTATACTACATACTATGTATATCATGTAGCATGTATACTACAT ACTATGTATATCATGTAGCATGTATACTACATACTATGTATATCATGTAG CATGTATACTACATACTATGTATATCATGTAGCATGTATACTACATACTA TGTATATCATGTAGCATGTATACTACATACTATGTATATCATGTAGCATG TATACTACATACTATGTATATCATGTAGCATGTATACTACATACTATGTA TATCATGTAGCATGTATACTACATACTATGTATATCATGTAGCATGTATA CTACATACTATGTATATCATGTAGCATGTATACTACATACTATGTATATC ATGTAGCATGTATACTACATACTATGTATATCATG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02080.hp1 HG02080.hp2 HG01981.hp2 HG02080.hp1 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0045 a0001c0001t0004g0157 a0001c0001t0004g0045 a0001c0001t0004g0157	3	130	0.0231	384	c.51+ others(399): Show c.51+2287_51+2288insATGATATACATAGTATGTAGTATACATGCT ACATGATATACATAGTATGTAGTATACATGCTACATGATATACATAGTAT GTAGTATACATGCTACATGATATACATAGTATGTAGTATACATGCTACAT GATATACATAGTATGTAGTATACATGCTACATGATATACATAGTATGTAG TATACATGCTACATGATATACATAGTATGTAGTATACATGCTACATGATA TACATAGTATGTAGTATACATGCTACATGATATACATAGTATGTAGTATA CATGCTACATGATATACATAGTATGTAGTATACATGCTACATGATATACA TAGTATGTAGTATACATGCTACATGATATACATAGTATGTAGTATACATG CTAT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CROCC2_chr2_240901336_240998311	240924689	G G	GGCCCCCA others(377): Show GGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTGACC CAGTCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCCCCACACTGA CCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGTCCCCACACTG ACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACA CTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCA CACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCC CAACACTAACCCGGCCCCCCACACTAACCCAGTCCCCCACACTAACCCAG CCCCCCACACTAACCCAGCCCCCCACACTAACCCA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0057 a0057	a0057c0031 a0057c0031	a0057c0031t0001 a0057c0031t0001	a0057c0031t0001g0179 a0057c0031t0001g0179	1	284	0.0035	384	c.489 others(401): Show c.489-1029_489-1028insACACTAACCCGGCCCCCACACTAACCCG GCCCCCACACTGACCCAGTCCCCACACTGACCCGGCCCCCCACACTGACC CGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCACACTGAC CCGGTCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTA ACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACA CTGACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCA CACTAACCCAGCCCCCAACACTAACCCGGCCCCCCACACTAACCCAGTCC CCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCCACACTAACCCA GCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924811	C C	CCCCCACA others(377): Show CCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACC CGGCCCCCCACACTGACCCAGTCCCCACACTAACCCGGCCCCCACACTGA CCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACT AACCCGGCCCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCCACA CTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCC ACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAATCCGGCC CCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCCACACTAACCCAG TCCCCACACTAACCCAGTCCCCACACTAACCCAGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0147 a0012c0013t0001g0147	1	326	0.0031	384	c.489 others(399): Show c.489-892_489-891insCACACTAACCCGGCCCCCCACACTAACCCG GCCCCCCACACTGACCCAGTCCCCACACTAACCCGGCCCCCACACTGACC CAGTCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAA CCCGGCCCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCCACACT AACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCAC ACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAATCCGGCCCC CACACTAACCCGGCCCCCACACTAACCCAGCCCCCCACACTAACCCAGTC CCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCGGC CCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSMD1_chr8_2930361_4999914	3043155	C C	CGATATAT others(377): Show CGATATATACAGATTATATAGTATCATAGGTCACTATAGCGATAGGTTTC TATGACCTATAAATACTAGATATGACCTAGTACTGTAGGATTGTATGTCC ATATAGTACTATAGCGAATATAGTACATGTAAACCTACAGTACTAGGTCA CTATGGTGATATATATAGTATATAAAGTGATATACATATAGCGATATATA CAGATTATATAGTACCATAGGTCACTATAGCGATAGGTTTCTATGACCTA TAAATACTAGATATGACCTAGTACTGTGGGATTATATGTACATATAGTAC TATAGTGCATATAGTACATGTAAACCTACAGTACTAGGTCACTATGGTGA TATATATATAGTACATATAGTGATATACATATAGT	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19240.hp2 NA20129.hp2 HG03516.hp2 NA19240.hp2 NA20129.hp2	a0001 a0030 a0001 a0030	a0001c0045 a0001c0111 a0030c0106 a0001c0045 a0001c0111 a0030c0106	a0001c0045t0014 a0001c0111t0045 a0030c0106t0014 a0001c0045t0014 a0001c0111t0045 a0030c0106t0014	a0001c0045t0014g0010 a0001c0111t0045g0063 a0030c0106t0014g0042 a0001c0045t0014g0010 a0001c0111t0045g0063 a0030c0106t0014g0042	3	126	0.0238	384	c.766 others(403): Show c.7660+9306_7660+9307insACTATATGTATATCACTATATGTACT ATATATATATCACCATAGTGACCTAGTACTGTAGGTTTACATGTACTATA TGCACTATAGTACTATATGTACATATAATCCCACAGTACTAGGTCATATC TAGTATTTATAGGTCATAGAAACCTATCGCTATAGTGACCTATGGTACTA TATAATCTGTATATATCGCTATATGTATATCACTTTATATACTATATATA TCACCATAGTGACCTAGTACTGTAGGTTTACATGTACTATATTCGCTATA GTACTATATGGACATACAATCCTACAGTACTAGGTCATATCTAGTATTTA TAGGTCATAGAAACCTATCGCTATAGTGACCTATGATACTATATAATCTG TATATATC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	50/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3043178	C C	TCATAGGT others(377): Show TCATAGGTCACTATAGCGATAGGTTTCTATGACCTATAAATACTAGATAT GACCTAGTACTGTAGGATTGTATGTCCATATAGTACTATAGCGCATATAG TACATGTAAACCTACAGTACTAGGTCACTATGGTGATATATATAGTATAT AAAGTGATATACATATAGCGATATATACAGATTATATAGTACCATAGGTC ACTATAGCGATAGGTTTCTATGACCTATAAATACTAGATATGACCTAGTA CTGTGGGATTATATGTACATATAGTACTATAGTGCATATAGTACATGTAA ACCTACAGTACTAGGTCACTATGGTGATATATATATAGTACATATAGTGA TATACATATAGCGATATATACAGATTATATAGTAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp2 HG02055.hp2 HG02451.hp2	a0004 a0016 a0004 a0016	a0004c0057 a0016c0028 a0004c0057 a0016c0028	a0004c0057t0080 a0016c0028t0024 a0004c0057t0080 a0016c0028t0024	a0004c0057t0080g0075 a0016c0028t0024g0040 a0004c0057t0080g0075 a0016c0028t0024g0040	2	126	0.0159	384	c.766 others(403): Show c.7660+9284_7660+9285insTACTATATAATCTGTATATATCGCTA TATGTATATCACTATATGTACTATATATATATCACCATAGTGACCTAGTA CTGTAGGTTTACATGTACTATATGCACTATAGTACTATATGTACATATAA TCCCACAGTACTAGGTCATATCTAGTATTTATAGGTCATAGAAACCTATC GCTATAGTGACCTATGGTACTATATAATCTGTATATATCGCTATATGTAT ATCACTTTATATACTATATATATCACCATAGTGACCTAGTACTGTAGGTT TACATGTACTATATGCGCTATAGTACTATATGGACATACAATCCTACAGT ACTAGGTCATATCTAGTATTTATAGGTCATAGAAACCTATCGCTATAGTG ACCTATGA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	50/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3558334	G G	GTAGTACC others(377): Show GTAGTACCCCGTGTCCACTCCTCCAATGATGAATGGTGCCTCAATGGTAC CCCGTGTCCACCCCTCCAATGATGAATGCCTCAGTAGTACCCCGTGTCCA CTTCTCCAATGATGAACAGTGCCTCAATGGTACCCCGTGTCCACTCCTGC AATGATGAATAGTGTCTCAATAGTACCCCATGTCCACTCCTCCAATGATG AACGGTGCCTCAATGGTACCCCATGTCGACTCCTCCAACGATGAACGGTG TCTCAATGGTACCCCGTGTCCACTCCTGCAATGATGAATGGTGCCTCAAT AGTACCCCATGTCCACTCCTCCAATGATGAATGGTGCCTCAATGGTACCC CGTGTCCACTCCTGCAATGATGAATGGTGCCTCAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0075 a0002c0075	a0002c0075t0028 a0002c0075t0028	a0002c0075t0028g0051 a0002c0075t0028g0051	1	116	0.0086	384	c.134 others(405): Show c.1344+16610_1344+16611insTTGAGGCACCATTCATCATTGCAG GAGTGGACACGGGGTACCATTGAGGCACCATTCATCATTGGAGGAGTGGA CATGGGGTACTATTGAGGCACCATTCATCATTGCAGGAGTGGACACGGGG TACCATTGAGACACCGTTCATCGTTGGAGGAGTCGACATGGGGTACCATT GAGGCACCGTTCATCATTGGAGGAGTGGACATGGGGTACTATTGAGACAC TATTCATCATTGCAGGAGTGGACACGGGGTACCATTGAGGCACTGTTCAT CATTGGAGAAGTGGACACGGGGTACTACTGAGGCATTCATCATTGGAGGG GTGGACACGGGGTACCATTGAGGCACCATTCATCATTGGAGGAGTGGACA CGGGGTACTA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3558334	G G	GTAGTACC others(377): Show GTAGTACCCCGTGTCCACTCCTCCAATGATGAATGGTGCCTCAATGGTAC CCCGTGTCCACCCCTCCAATGATGAATGCCTCAGTAGTACCCCGTGTCCA CTTCTCCAATGATGAACGGTGCCTCAATGGTACCCCGTGTCCACTCCTGC AATGATGAATAGTGTCTCAATAGTACCCCATGTCCACTCCTCCAATGATG AACGGTGCCTCAATGGTACCCCATGTCGACTCCTCCAACGATGAACGGTG TCTCAATGGTACCCCGTGTCCACTCCTGCAATGATGAATGGTGCCTCAAT AGTACCCCGTGTCCACTCCTCCAATGATGAATGGTGCCTCAATGGTACCC CGTGTCCACTCCTGCAATGATGAATGGTGCCTCAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0107 a0001c0003t0019g0107	1	116	0.0086	384	c.134 others(405): Show c.1344+16610_1344+16611insTTGAGGCACCATTCATCATTGCAG GAGTGGACACGGGGTACCATTGAGGCACCATTCATCATTGGAGGAGTGGA CACGGGGTACTATTGAGGCACCATTCATCATTGCAGGAGTGGACACGGGG TACCATTGAGACACCGTTCATCGTTGGAGGAGTCGACATGGGGTACCATT GAGGCACCGTTCATCATTGGAGGAGTGGACATGGGGTACTATTGAGACAC TATTCATCATTGCAGGAGTGGACACGGGGTACCATTGAGGCACCGTTCAT CATTGGAGAAGTGGACACGGGGTACTACTGAGGCATTCATCATTGGAGGG GTGGACACGGGGTACCATTGAGGCACCATTCATCATTGGAGGAGTGGACA CGGGGTACTA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CUL4A_chr13_113204613_113272108	113263068	C C	CGGGTCTG others(377): Show CGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCT GCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTCGC TTATACGTGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTCGCTTATACG TGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTT GCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGTCCTTGCTGATG GCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATG TCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGGTC TGCCTCGCTTATACGTGCCCTTGCTGATGGCAGAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG02965.hp2 others(3): Show HG02280.hp2 HG02451.hp1 HG02965.hp2 HG03195.hp2 HG03516.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0003t0007 a0001c0001t0007 a0001c0003t0007	a0001c0001t0007g0336 a0001c0001t0007g0337 a0001c0003t0007g0338 others(3): Show a0001c0001t0007g0336 a0001c0001t0007g0337 a0001c0003t0007g0338 a0001c0003t0007g0339 a0001c0003t0007g0340 a0001c0003t0007g0341	6	386	0.0155	384	c.218 others(401): Show c.2185-374_2185-373insATCTGCCTCGCTTATACGTGCCCTTGCT GATGGCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCA GATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCG GATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGC CTCGCTTATACGTGTCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTT ATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTG CCCTTGCTGATGGCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGC TGATGGCAGATGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGA TGTCGG	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL4A_chr13_113204613_113272108	113263139	G G	GCTGATGG others(377): Show GCTGATGGCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATG GCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATG TCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATC TGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCG CTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATAC GTGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCT TGCTGATGGCAGATGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGC AGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02647.hp2 HG00741.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0259 a0001c0001t0001g0187 a0001c0001t0001g0259	2	68	0.0294	384	c.218 others(401): Show c.2185-331_2185-330insGTCTGCCTCGCTTATACGTGCCCTTGCT GATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCA GATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCG GATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGC CTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTT ATACGTGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTCGCTTATACGTG CCCTTGCTGATGGCAGATGGGTCTGCCTCGCTTATACGTGCCCTTGCTGA TGGCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTACTGATGGCAGA TGTCGG	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(377): Show ATATATATGTGTATATATATATATATATATATATATGTGTATATATATAT ATATATATATATATGTGTGTGTATATATATATATATATATATATATGTGT ATATATATATATATATATATATGTGTATATATATATATATATATATATAT ATGTGTATATATATATATATATATATATATGTGTATATATATATATATAT ATATATGTGTATATATATATATATATATGTGTATATATATATATATATAT ATATGTGTATATATATATATATATATATATGTGTATATATATATATATAT ATATGTGTATATATATATATATATATGTGTATATATATATATATATATAT ATGTGTATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0132 a0002c0002t0132	a0002c0002t0132g0175 a0002c0002t0132g0175	1	218	0.0046	384	c.290 others(399): Show c.290-150_290-149insTATATGTGTATATATATATATATATATATA TATGTGTATATATATATATATATATATATATGTGTGTGTATATATATATA TATATATATATATGTGTATATATATATATATATATATATGTGTATATATA TATATATATATATATATATGTGTATATATATATATATATATATATATGTG TATATATATATATATATATATATGTGTATATATATATATATATATGTGTA TATATATATATATATATATATGTGTATATATATATATATATATATATGTG TATATATATATATATATATATGTGTATATATATATATATATATGTGTATA TATATATATATATATATATGTGTATATATATATATATATATATATATATA TGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DECR2_chr16_396885_417482	397703	G G	GGGGGGTG others(377): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGG TGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	324	0.0031	384	c.-42 others(395): Show c.-4261_-4260insGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGG GGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4181		chr16	TogoVar
DECR2_chr16_396885_417482	397709	T T	TGGGGGGG others(377): Show TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAG GGAGTCGGGGGGTGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	307	0.0033	384	c.-42 others(395): Show c.-4255_-4254insGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGTGTGGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4175		chr16	TogoVar
DEPTOR_chr8_119868722_120055918	120021083	T T	TAAAATAA others(377): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0005 a0002c0001t0001g0005	1	196	0.0051	384	c.110 others(405): Show c.1101+11956_1101+11957insAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAAAAAATA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAI7_chr12_25103289_25200160	25174371	G G	GATATATA others(377): Show GATATATATATGATATATATATCCCATATATATGATATATATATGATATA TATATCCCATATATATGATATATATATGATATATATATCCCATATATATG ATATATATGATATATATATCATATATATGGGATATATATATATCATATAT ATCATATATATGGGATATATATATCATATATATCATATATATGGGATATA TATATCATATATATCATATATATGGGATATATATATCATATATATCATAT ATATGGGATATATATATCATATATATCATATATATGGGATATATATATCA TATATATCATATATATGGGATATATATATCATATATATCATATATATGGG ATATATATATCATATATATGGGATATATATATCAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp2 HG01071.hp1 others(3): Show HG00733.hp2 HG01069.hp2 HG01071.hp1 HG01109.hp2 HG01358.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0176 a0001c0001t0001g0179 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0186	6	60	0.1000	384	c.22- others(401): Show c.22-13175_22-13174insATGATATATATATCCCATATATATGATA TATATATCCCATATATATGATATATATGATATATATATCCCATATATATG ATATATATGATATATATATCCCATATATATGATATATATGATATATATAT CCCATATATATGATATATATGATATATATATCCCATATATATGATATATA TGATATATATATCCCATATATATGATATATATGATATATATATCCCATAT ATATGATATATATGATATATATATATCCCATATATATGATATATATATCA TATATATCATATATATGGGATATATATATCATATATATATCATATATATG GGATATATATATCATATATATATCATATATATGGGATATATATATCATAT ATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DNAJB6_chr7_157332004_157422439	157369968	T T	TTTCTTAA others(377): Show TTTCTTAACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAAG AGGCCCTTTCTTAACATTATTATTAAACAGGTCTTTCATAACGTTATTAT TAAACGGGCCCCTTCTTAACATTATTATTAAACAGGCCCCTTCTTAACAT TATTATTAAATGGGACCCTTCTTAAGATTATTAAACGGGCCCCTTCTTAA CATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAAGAGGCCCTT TCTTAACATTATTATTAAACAGGTCTTTCATAACGTTATTATTAAACGGG CCCCTTCTTAACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTA AATGGGACCCTTCTTAAGATTATTAAACGGGCCCC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	352	0.0028	384	c.346 others(401): Show c.346+2738_346+2739insAACATTATTATTAAACAGGTCTTTCATA ACGTTATTATTAAACGGGCCCCTTCTTAACATTATTATTAAACAGGCCCC TTCTTAACATTATTATTAAATGGGACCCTTCTTAAGATTATTAAACGGGC CCCTTCTTAACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAA AGAGGCCCTTTCTTAACATTATTATTAAACAGGTCTTTCATAACGTTATT ATTAAACGGGCCCCTTCTTAACATTATTATTAAACAGGCCCCTTCTTAAC ATTATTATTAAATGGGACCCTTCTTAAGATTATTAAACGGGCCCCTTCTT AACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAAGAGGCCC TTTCTT	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157369990	A A	AGGCCCCT others(377): Show AGGCCCCTTCTTAACATTATTATTAAAGAGGCCCTTTCTTAACATTATTA TTAAACAGGTCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTAACAT TATTATTAAACAGGCCCCTTCTTAACATTATTATTAAATGGGACCCTTCT TAAGATTATTAAACGGGCCCCTTCTTAACATTATTATTAAACAGGCCCCT TCTCAACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACGG GACCCTTCTTAAGATTATTAAACGGGCCCTTTCTTAACATTATTATTAAA CAGGCCCCTTCTTAACATTATTATTAAAGAGGCCCTTTCTTAACATTATT ATTAAACAGGTCTTTCATAACGTTATTATTAAACG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0346 a0001c0001t0003g0346	1	362	0.0028	384	c.346 others(401): Show c.346+2709_346+2710insCAACATTATTATTAAACAGGCCCCTTCT TAACATTATTATTAAACGGGACCCTTCTTAAGATTATTAAACGGGCCCTT TCTTAACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAAGAG GCCCTTTCTTAACATTATTATTAAACAGGTCTTTCATAACGTTATTATTA AACGGGCCCCTTCTTAACATTATTATTAAAGAGGCCCTTTCTTAACATTA TTATTAAACAGGTCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTAA CATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAATGGGACCCT TCTTAAGATTATTAAACGGGCCCCTTCTTAACATTATTATTAAACAGGCC CCTTCT	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNM2_chr19_10713079_10836903	10758363	T T	TTCCCTCC others(377): Show TTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTTCCCTCCCTCC TTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCT CCTTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	160	0.0063	384	c.162 others(401): Show c.162-1332_162-1331insTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC CTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCT CCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCC CTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTT CCTTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DNM2_chr19_10713079_10836903	10758363	T T	TTCCCTCC others(377): Show TTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCC CTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTT CCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCC TTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTT CCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	160	0.0063	384	c.162 others(401): Show c.162-1332_162-1331insTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTT CCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCC CTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTT CCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCC CTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTT CCTTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DNM2_chr19_10713079_10836903	10758403	T T	TTCCTTCC others(377): Show TTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC TTCCCTCCCTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG03492.hp2 HG00423.hp2 HG00558.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0002g0011 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0002g0011	3	249	0.0120	384	c.162 others(401): Show c.162-1332_162-1331insTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC CTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCT CCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCCTTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DNM2_chr19_10713079_10836903	10758403	T T	TTCCTTCC others(377): Show TTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC TTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0143 a0001c0005t0001g0143	1	247	0.0040	384	c.162 others(401): Show c.162-1332_162-1331insTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC CTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCT CCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DNM2_chr19_10713079_10836903	10758403	T T	TTCCTTCC others(377): Show TTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC TTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	247	0.0040	384	c.162 others(401): Show c.162-1332_162-1331insTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC CTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCT CCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DNM2_chr19_10713079_10836903	10758403	T T	TTCCTTCC others(377): Show TTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC TTCCCTCCCTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0090 a0001c0002t0002g0090	1	247	0.0040	384	c.162 others(401): Show c.162-1332_162-1331insTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC CTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCT CCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCCTTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTT CCCTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DNM2_chr19_10713079_10836903	10758403	T T	TTCCTTCC others(377): Show TTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC TTCCCTCCCTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01358.hp2 others(8): Show HG01069.hp2 HG01071.hp2 HG01358.hp2 HG01934.hp2 HG02071.hp1 HG02135.hp1 HG02735.hp1 HG02922.hp2 HG03209.hp1 NA18747.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0016 a0001c0001t0003g0155 a0001c0002t0002g0012 others(8): Show a0001c0001t0001g0016 a0001c0001t0003g0155 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0017 a0001c0002t0002g0019 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0269 a0001c0002t0002g0273 a0001c0002t0002g0274	11	257	0.0428	384	c.162 others(401): Show c.162-1332_162-1331insTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC CTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCT CCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCCTTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOCK8_chr9_209865_470255	400963	C C	CACCACCA others(377): Show CACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCACCTCCA CCACCACCACCACCTCCACCACCTCCACCATCACCATCTTCACCATCACC ATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCACCTC CACCATCACCACCACCTCCACCACCACCACCACCACCTCCACCACCACCA CCACCTCCACCATCACCACCACCTCCACCACCACCTCCACCTCCACCACC ACCACCTCCACCACCACCACCACCTCCACCACCACCCTCACCACCTTCTC CACCACCACCATCTTCACCATCACCACCATCGCCCTGCCCACCTCTAGCA ATATTATCACCTTTCCTATCACCTCCAATATCACT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0061 a0061	a0061c0123 a0061c0123	a0061c0123t0001 a0061c0123t0001	a0061c0123t0001g0240 a0061c0123t0001g0240	1	227	0.0044	384	c.323 others(403): Show c.3234+1707_3234+1708insACCACCTCCACCATCACCACCACCAC CTCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCTCCACCA TCACCATCTTCACCATCACCATCACCACCACCTCCACCATCACCACCACC TCCACCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAC CACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCACCA CCACCTCCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACC ACCACCCTCACCACCTTCTCCACCACCACCATCTTCACCATCACCACCAT CGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATA TCACTACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CACCACCA others(377): Show CACCACCACCTCCTCCACCATCACCACCAGCTCCACCATCACCACCTCCT TCACCACCACCACCACCACCTCCACCACCACCTCCTCCACTACCACCACC ATCTTCACCATCACCACCATCTTCACCATCACCACCACCTCCACCACCAC CACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCACCA CCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCC ATCACCACCACCTCCACCACCACCACCACCTCCACCACCACCGTCACCAC CTTCTCCACCACCACCATCTTCACCATCACCACCATCGCCCTGCCCACCT CTAGCAATATTATCACCTTTCCTATCACCTCCAAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19030.hp2 NA18906.hp2 NA19030.hp2	a0015 a0055 a0015 a0055	a0015c0057 a0055c0102 a0015c0057 a0055c0102	a0015c0057t0001 a0055c0102t0007 a0015c0057t0001 a0055c0102t0007	a0015c0057t0001g0021 a0055c0102t0007g0055 a0015c0057t0001g0021 a0055c0102t0007g0055	2	156	0.0128	384	c.323 others(403): Show c.3234+1717_3234+1718insCCACCACCTCCTCCACCATCACCACC AGCTCCACCATCACCACCTCCTTCACCACCACCACCACCACCTCCACCAC CACCTCCTCCACTACCACCACCATCTTCACCATCACCACCATCTTCACCA TCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCC ACCATCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCAC CTCCACCACCACCACCACCTCCATCACCACCACCTCCACCACCACCACCA CCTCCACCACCACCGTCACCACCTTCTCCACCACCACCATCTTCACCATC ACCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCAC CTCCAATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF3B_chr7_2349827_2385745	2377509	G G	GTGTGAAT others(377): Show GTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCC TGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCA GGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGC CGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGTGAG CTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTC	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0269 a0001c0003t0001g0269	1	276	0.0036	384	c.215 others(401): Show c.2154+455_2154+456insTGGAGGAAGGAGCAGGCGCGAGCTCTCC TGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCA GGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGC CGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGTGAG CTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCA	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377531	A A	AGGAGGAA others(377): Show AGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGC CGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGTGAG CTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	264	0.0038	384	c.215 others(401): Show c.2154+472_2154+473insGCGAGCGCTCCTGGGATGCTGTGTTCTG TGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGG GAAGCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGC GTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGG AGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGAC CCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGT GTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGC TCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGA GCAGGC	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377618	T T	TCTCCTGG others(377): Show TCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAG GAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGG TGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTCTG TGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGTGAGCTCTTCTGG GAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGC GCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGG AGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGAC CCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	356	0.0028	384	c.215 others(401): Show c.2154+583_2154+584insTGGAGGAAGGAGCAGGCGTGAGCTCTTC TGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCGCTCCTGGGAAGCCGTGTTCTGTGAATGACCCTGGGTGTCA AGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCA	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
ETDB_chrX_135113955_135125526	135115022	T T	TATATAAT others(377): Show TATATAATTATATATGATATATAATTATATATATTACATATCATATATAA TCTTAATATATTATATATTATATTATATATTATTATATATAATATATTAT ATATTACATAACATATATATTATTATAATATATAATATATTATATATTAT ATTATATATAATAATATATTATATATTATATTATATATAATAATATATAA TATGTTATATTATATATTATATTATATATAATAATATGTAATATATAATT ATATTATATACTATTATAATAATTATAATAATATTAATATTATATTATAA TTATAATAGACACATATAATAATAATTATAATAATTAGCAGATTATTTTA TAATAATATTATATAATATGTATTAATAACATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01256.hp1 HG00741.hp2 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	313	0.0064	384	c.40 others(395): Show c.4059_*4060insTATATGTTATTAATACATATTATATAATATTATT ATAAAATAATCTGCTAATTATTATAATTATTATTATATGTGTCTATTATA ATTATAATATAATATTAATATTATTATAATTATTATAATAGTATATAATA TAATTATATATTACATATTATTATATATAATATAATATATAATATAACAT ATTATATATTATTATATATAATATAATATATAATATATTATTATATATAA TATAATATATAATATATTATATATTATAATAATATATATGTTATGTAATA TATAATATATTATATATAATAATATATAATATAATATATAATATATTAAG ATTATATATGATATGTAATATATATAATTATATATCATATATAATTATAT	ETDB	ENSG00000224107.5	transcript	ENST00000423661.1	protein_coding		3932		chrX	TogoVar
EVC2_chr4_5557439_5713559	5706433	G G	GATAGATA others(377): Show GATAGATACATAGATAGATAGATAGATAGATACATAGATAGATAGATACA TAGATACATACATAGATAGATAGATAGATACATACATACATACATACATA GATACATAGATAGATAGATACATAGATAGATACATAGATAGATAGATAGA TACATACATACATACATACATACATAGATACATAGATAGATAGATAGATA GATACATAGATAGATACATAGATAGATAGATAGATACATAGATACATACA TAGATAGATACATAGATAGATACATAGATACATAGATAGATAGATAGATA CATAGATAGATAGATAGACACATAGATACATAGATAGATAGATACATAGA TACATAGATAGATAGATAGATACATAGATAGATAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0007 a0007	a0007c0028 a0007c0028	a0007c0028t0001 a0007c0028t0001	a0007c0028t0001g0216 a0007c0028t0001g0216	1	256	0.0039	384	c.228 others(401): Show c.228+1852_228+1853insGTATCTATCTATGTATCTATCTATCTAT CTATGTATCTATGTATCTATCTATCTATGTATCTATGTGTCTATCTATCT ATCTATGTATCTATCTATCTATCTATGTATCTATGTATCTATCTATGTAT CTATCTATGTATGTATCTATGTATCTATCTATCTATCTATGTATCTATCT ATGTATCTATCTATCTATCTATCTATGTATCTATGTATGTATGTATGTAT GTATGTATCTATCTATCTATCTATGTATCTATCTATGTATCTATCTATCT ATGTATCTATGTATGTATGTATGTATGTATCTATCTATCTATCTATGTAT GTATCTATGTATCTATCTATCTATGTATCTATCTATCTATCTATCTATGT ATCTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	1/21			chr4	TogoVar
EVC2_chr4_5557439_5713559	5706433	G G	GATAGATG others(377): Show GATAGATGCATAGATAGATAGATAGATACATAGATAGATAGATACATAGA TACATACATAGATAGATAGATACATACATACATACATACATACATAGATA CATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGA TAGATAGATAGATACATACATACATACATACATACATAGATACATAGATA GATAGATAGATAGATACATAGATAGATACATAGATAGATACATAGATACA TACATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATA GATACACAGATAGATAGACACATAGATAGATACATAGATACATAGATACA TAGATAGATAGATAGATACATAGATAGATAGATAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18522.hp1 HG03098.hp1 NA18522.hp1	a0005 a0013 a0005 a0013	a0005c0031 a0013c0042 a0005c0031 a0013c0042	a0005c0031t0001 a0013c0042t0001 a0005c0031t0001 a0013c0042t0001	a0005c0031t0001g0053 a0013c0042t0001g0052 a0005c0031t0001g0053 a0013c0042t0001g0052	2	257	0.0078	384	c.228 others(401): Show c.228+1852_228+1853insGTATCTATCTATCTATGTATCTATCTAT CTATCTATGTATCTATGTATCTATGTATCTATCTATGTGTCTATCTATCT GTGTATCTATCTATCTATGTATCTATCTATCTATCTATGTATCTATCTAT CTATGTATGTATCTATGTATCTATCTATGTATCTATCTATGTATCTATCT ATCTATCTATCTATGTATCTATGTATGTATGTATGTATGTATGTATCTAT CTATCTATCTATCTATCTATGTATCTATCTATGTATCTATCTATCTATCT ATCTATGTATCTATGTATGTATGTATGTATGTATGTATCTATCTATCTAT GTATGTATCTATGTATCTATCTATCTATGTATCTATCTATCTATCTATGC ATCTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	1/21			chr4	TogoVar
EVC_chr4_5706201_5819305	5706433	G G	GATAGATA others(377): Show GATAGATACATAGATAGATAGATAGATAGATACATAGATAGATAGATACA TAGATACATACATAGATAGATAGATAGATACATACATACATACATACATA GATACATAGATAGATAGATACATAGATAGATACATAGATAGATAGATAGA TACATACATACATACATACATACATAGATACATAGATAGATAGATAGATA GATACATAGATAGATACATAGATAGATAGATAGATACATAGATACATACA TAGATAGATACATAGATAGATACATAGATACATAGATAGATAGATAGATA CATAGATAGATAGATAGACACATAGATACATAGATAGATAGATACATAGA TACATAGATAGATAGATAGATACATAGATAGATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0033 a0004c0006t0033	a0004c0006t0033g0323 a0004c0006t0033g0323	1	322	0.0031	384	c.-49 others(395): Show c.-4948_-4947insATAGATACATAGATAGATAGATAGATAGATACAT AGATAGATAGATACATAGATACATACATAGATAGATAGATAGATACATAC ATACATACATACATAGATACATAGATAGATAGATACATAGATAGATACAT AGATAGATAGATAGATACATACATACATACATACATACATAGATACATAG ATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGATAGAT ACATAGATACATACATAGATAGATACATAGATAGATACATAGATACATAG ATAGATAGATAGATACATAGATAGATAGATAGACACATAGATACATAGAT AGATAGATACATAGATACATAGATAGATAGATAGATACATAGATAGATAC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4767		chr4	TogoVar
EVC_chr4_5706201_5819305	5706433	G G	GATAGATG others(377): Show GATAGATGCATAGATAGATAGATAGATACATAGATAGATAGATACATAGA TACATACATAGATAGATAGATACATACATACATACATACATACATAGATA CATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGA TAGATAGATAGATACATACATACATACATACATACATAGATACATAGATA GATAGATAGATAGATACATAGATAGATACATAGATAGATACATAGATACA TACATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATA GATACACAGATAGATAGACACATAGATAGATACATAGATACATAGATACA TAGATAGATAGATAGATACATAGATAGATAGATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 NA18522.hp2 HG03098.hp2 NA18522.hp2	a0002 a0043 a0002 a0043	a0002c0005 a0043c0070 a0002c0005 a0043c0070	a0002c0005t0014 a0043c0070t0004 a0002c0005t0014 a0043c0070t0004	a0002c0005t0014g0355 a0043c0070t0004g0354 a0002c0005t0014g0355 a0043c0070t0004g0354	2	323	0.0062	384	c.-49 others(395): Show c.-4948_-4947insATAGATGCATAGATAGATAGATAGATACATAGAT AGATAGATACATAGATACATACATAGATAGATAGATACATACATACATAC ATACATACATAGATACATAGATAGATAGATAGATAGATACATAGATAGAT ACATAGATAGATAGATAGATAGATAGATACATACATACATACATACATAC ATAGATACATAGATAGATAGATAGATAGATACATAGATAGATACATAGAT AGATACATAGATACATACATAGATAGATAGATACATAGATAGATAGATAG ATACATAGATAGATAGATACACAGATAGATAGACACATAGATAGATACAT AGATACATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4767		chr4	TogoVar
FARS2_chr6_5256513_5776583	5581773	C C	CTAAATGG others(377): Show CTAAATGGTCACGGTAACATACTTCCGGTTAATTCCTGATGCGCTTTTCT AAATGGTCACAGTAACATACTTCTGGTTAATTCCTGATGCACTTTTCTAA ATGGTCACAGTAACATACTTACGGTTAATTCCTGATGCGCTTCTATAAAT GGTCACAGTAACATACTTCCGGTTAATTCCTGATGTGCTTTTATAAATGG TCACAGTAAGATACTTCCAGTTAATTCCTGATGCGCTTTTCTAAGTGGTC ACAGTAACATACTTCCGGTTAATTCCTGATGCGCTTCTATAAATGGTCAC AGTAACATACTTCCGGTTAATTCCTGATGCGCTTCTATAAATGGTCACAG TAACATACTTCTGGTTAATTCCTGATGTGCTTTTA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	168	0.0060	384	c.106 others(405): Show c.1066-31324_1066-31323insTGGTTAATTCCTGATGCACTTTTC TAAATGGTCACAGTAACATACTTACGGTTAATTCCTGATGCGCTTCTATA AATGGTCACAGTAACATACTTCCGGTTAATTCCTGATGTGCTTTTATAAA TGGTCACAGTAAGATACTTCCAGTTAATTCCTGATGCGCTTTTCTAAGTG GTCACAGTAACATACTTCCGGTTAATTCCTGATGCGCTTCTATAAATGGT CACAGTAACATACTTCCGGTTAATTCCTGATGCGCTTCTATAAATGGTCA CAGTAACATACTTCTGGTTAATTCCTGATGTGCTTTTATAAATGGTCACG GTAACATACTTCCGGTTAATTCCTGATGCGCTTTTCTAAATGGTCACAGT AACATACTTC	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(377): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA GGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGG GAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGA GGGAGACGAGAGGGAGAGGGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01071.hp1 HG01106.hp2 others(10): Show HG00639.hp1 HG01071.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01256.hp2 HG01258.hp1 HG02683.hp1 HG03209.hp2 HG03669.hp2 HG04228.hp2 NA18906.hp2 NA19004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0021 a0002c0002t0002g0024 a0002c0002t0002g0025 others(9): Show a0002c0002t0002g0021 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0155 a0002c0002t0002g0174 a0002c0002t0002g0177 a0002c0002t0002g0186 a0002c0002t0002g0193 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0212	13	236	0.0551	384	c.39 others(395): Show c.3959_*3960insTCTCCCTCTCCCTCTCCCTCTCCCTCTCGTCTCC CTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCT CCCCGCCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCC CTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCT CCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCT CTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCGTCTCCCTCTCCCTCTC CCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTC TCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(377): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGG GAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGA GGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGA GGCGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGACGAGAGGGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01361.hp1 HG01975.hp2 HG01358.hp1 HG01361.hp1 HG01975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0027 a0002c0002t0002g0187 a0002c0002t0002g0027 a0002c0002t0002g0187	3	226	0.0133	384	c.39 others(395): Show c.3959_*3960insTCTCCCTCTCCCTCTCCCTCTCGTCTCCCTCTCC CTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGC CTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCC CTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCT CCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCC GTCTCCCTCTCCCTCTCCCCGTCTCCCGTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTC TCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar
FLT4_chr5_180596506_180654600	180615442	G G	GCCCACCG others(377): Show GCCCACCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGGCCCG CCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACT GGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCC GCCGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGG TCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGGCCTGCCGGTCACC TCCCTTCTCCACTTCCGAAATCCACTTCCTTTAGGAGCACTGGGTCCCGC TGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTC ACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0035 a0003c0005t0001g0035	1	225	0.0044	384	c.321 others(401): Show c.3219+924_3219+925insGCCCAGTGCTCCGAAAGGAAGTGGAGAA GGGAGGTGACCAGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAG GTGACCAGCGGGACCCAGTGCTCCTAAAGGAAGTGGATTTCGGAAGTGGA GAAGGGAGGTGACCGGCAGGCCCCAGTGCTCCAAAAGGAAGTGGAGAAGG GAGGTGACCAGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGT GACCGGCGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACCGG CGGGCCCAGTGCTCCGAAAGGAAGTGGATTTCGGAAGTGGAGAAGGGAGG TGACCGGCGGGCCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACC GGTGGG	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FOCAD_chr9_20679259_21000950	20974097	T T	TCTTTCAG others(377): Show TCTTTCAGCATCTGTTCATGGCCTCTGCTTCTCCTTTTTCCTATGTTTCT CCTTTCTGTAGCTGTTTTTTTCCTGCTGACTCTTGCTTCCCCATTTTAGC ATCTGCTAATTTGGTCTCTGCTTCTCCTTTTTCCTATGCTTCTCATTTCT GCTGCTGTTTTCACGTTTGCTGACTCTGCCCTACTTCCCTCTTCTTTCAG CATCTGTTCATGGCCTCTGCTTCTCCTTTTTCCTATGTTTCTCCTTTCTG CAGCTGATTTTTTCCTGCTGACTCTTGCTTCCCCATTTTAGCATCTGCTA ATTTGGCCTCTGCTTCTCCTTTTTCCTATGCTTCTCATTTCTGCTGCTGT TTTCATGTTTGCTGACTCTGCCCTACTTCCCCCTA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	318	0.0031	384	c.413 others(403): Show c.4133-2189_4133-2188insATGCTTCTCATTTCTGCTGCTGTTTT CACGTTTGCTGACTCTGCCCTACTTCCCTCTTCTTTCAGCATCTGTTCAT GGCCTCTGCTTCTCCTTTTTCCTATGTTTCTCCTTTCTGCAGCTGATTTT TTCCTGCTGACTCTTGCTTCCCCATTTTAGCATCTGCTAATTTGGCCTCT GCTTCTCCTTTTTCCTATGCTTCTCATTTCTGCTGCTGTTTTCATGTTTG CTGACTCTGCCCTACTTCCCCCTACTTTCAGCATCTGTTCATGGCCTCTG CTTCTCCTTTTTCCTATGTTTCTCCTTTCTGTAGCTGTTTTTTTCCTGCT GACTCTTGCTTCCCCATTTTAGCATCTGCTAATTTGGTCTCTGCTTCTCC TTTTTCCT	FOCAD	ENSG00000188352.13	transcript	ENST00000338382.11	protein_coding	35/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
FOCAD_chr9_20679259_21000950	20974289	T T	TCTTTCAG others(377): Show TCTTTCAGCATCTGTTAATGGCCTCTGCTTCTCCTTTTTCCTATGTTTCT CCTTTCTGTAGCTGTTTTTTTCCTGCTGACTCTTGCTTCCCCATTTTAGC ATCTGCTAATTTGGTCTCTGCTTCTCCTTTTTCCTATGCTTCTCATTTCT GCTGCTGTTTTCACGTTTGCTGACTCTGCCCTACTTCCCTCTTCTTTCAG CATCTGTTCATGGCCTCTGCTTCTCCTTTTTCCTATGTTTCTCCTTTCTG CAGCTGATTTTTTCCTGCTGACTCTTGCTTCCCCATTTTAGCATCTGCTA ATTTGGCCTCTGCTTCTCCTTTTTCCTATGCTTCTCATTTCTGCTGCTGT TTTCATGTTTGCTGACTCTGCCCTACTTCCCCCTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0071	1	211	0.0047	384	c.413 others(403): Show c.4133-2116_4133-2115insAATGGCCTCTGCTTCTCCTTTTTCCT ATGTTTCTCCTTTCTGTAGCTGTTTTTTTCCTGCTGACTCTTGCTTCCCC ATTTTAGCATCTGCTAATTTGGTCTCTGCTTCTCCTTTTTCCTATGCTTC TCATTTCTGCTGCTGTTTTCACGTTTGCTGACTCTGCCCTACTTCCCTCT TCTTTCAGCATCTGTTCATGGCCTCTGCTTCTCCTTTTTCCTATGTTTCT CCTTTCTGCAGCTGATTTTTTCCTGCTGACTCTTGCTTCCCCATTTTAGC ATCTGCTAATTTGGCCTCTGCTTCTCCTTTTTCCTATGCTTCTCATTTCT GCTGCTGTTTTCATGTTTGCTGACTCTGCCCTACTTCCCCCTACTTTCAG CATCTGTT	FOCAD	ENSG00000188352.13	transcript	ENST00000338382.11	protein_coding	35/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
FOCAD_chr9_20679259_21000950	20974289	T T	TCTTTCAG others(377): Show TCTTTCAGCATCTGTTCATGGCCTCTGCTTCTCCTTTTTCCTATGTTTCT CCTTTCTGTAGCTGTTTTTTTCCTGCTGACTCTTGCTTCCCCATTTTAGC ATCTGCTAATTTGGTCTCTGCTTCTCCTTTTTCCTATGCTTCTCATTTCT GCTGCTGTTTTCACGTTTGCTGACTCTGCCCTACTTCCCTCTTCTTTCAG CATCTGTTCATGGCCTCTGCTTCTCCTTTTTCCTATGTTTCTCCTTTCTG CAGCTGATTTTTTCCTGCTGACTCTTGCTTCCACATTTTAGCATCTGCTA ATTTGGCCTCTGCTTCTCCTTTTTCCTATGCTTCTCATTTCTGCTGCTGT TTTCATGTTTGCTGACTCTGCCCTACTTCCCCCTA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp2 HG02897.hp2 others(1): Show HG02809.hp1 HG02896.hp2 HG02897.hp2 HG03130.hp2	a0001 a0001	a0001c0015 a0001c0016 a0001c0015 a0001c0016	a0001c0015t0001 a0001c0016t0001 a0001c0015t0001 a0001c0016t0001	a0001c0015t0001g0310 a0001c0015t0001g0311 a0001c0016t0001g0147 others(1): Show a0001c0015t0001g0310 a0001c0015t0001g0311 a0001c0016t0001g0147 a0001c0016t0001g0309	4	214	0.0187	384	c.413 others(403): Show c.4133-2095_4133-2094insTTCCTATGTTTCTCCTTTCTGTAGCT GTTTTTTTCCTGCTGACTCTTGCTTCCCCATTTTAGCATCTGCTAATTTG GTCTCTGCTTCTCCTTTTTCCTATGCTTCTCATTTCTGCTGCTGTTTTCA CGTTTGCTGACTCTGCCCTACTTCCCTCTTCTTTCAGCATCTGTTCATGG CCTCTGCTTCTCCTTTTTCCTATGTTTCTCCTTTCTGCAGCTGATTTTTT CCTGCTGACTCTTGCTTCCACATTTTAGCATCTGCTAATTTGGCCTCTGC TTCTCCTTTTTCCTATGCTTCTCATTTCTGCTGCTGTTTTCATGTTTGCT GACTCTGCCCTACTTCCCCCTACTTTCAGCATCTGTTCATGGCCTCTGCT TCTCCTTT	FOCAD	ENSG00000188352.13	transcript	ENST00000338382.11	protein_coding	35/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
FOCAD_chr9_20679259_21000950	20974289	T T	TCTTTCAG others(377): Show TCTTTCAGCATCTGTTCATGGCCTCTGCTTCTCCTTTTTCCTATGTTTCT CCTTTCTGTAGCTGTTTTTTTCCTGCTGACTCTTGCTTCCCCATTTTAGC ATCTGCTAATTTGGTCTCTGCTTCTCCTTTTTCCTATGCTTCTCATTTCT GCTGCTGTTTTCACGTTTGCTGACTCTGCCCTACTTCCCTCTTCTTTCAG CATCTGTTCATGGCCTCTGCTTCTCCTTTTTCCTATGTTTCTCCTTTCTG CAGCTGATTTTTTCCTGCTGACTCTTGCTTCCCCATTTTAGCATCTGCTA ATTTGGCCTCTGCTTCTCCTTTTTCCTATGCTTCTCATTTCTGCTGCTGT TTTCACGTTTGCTGACTCTGCCCTACTTCCCCCTA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03579.hp1 HG02615.hp1 HG03579.hp1	a0002 a0027 a0002 a0027	a0002c0002 a0027c0029 a0002c0002 a0027c0029	a0002c0002t0001 a0027c0029t0001 a0002c0002t0001 a0027c0029t0001	a0002c0002t0001g0301 a0027c0029t0001g0093 a0002c0002t0001g0301 a0027c0029t0001g0093	2	212	0.0094	384	c.413 others(403): Show c.4133-2095_4133-2094insTTCCTATGTTTCTCCTTTCTGTAGCT GTTTTTTTCCTGCTGACTCTTGCTTCCCCATTTTAGCATCTGCTAATTTG GTCTCTGCTTCTCCTTTTTCCTATGCTTCTCATTTCTGCTGCTGTTTTCA CGTTTGCTGACTCTGCCCTACTTCCCTCTTCTTTCAGCATCTGTTCATGG CCTCTGCTTCTCCTTTTTCCTATGTTTCTCCTTTCTGCAGCTGATTTTTT CCTGCTGACTCTTGCTTCCCCATTTTAGCATCTGCTAATTTGGCCTCTGC TTCTCCTTTTTCCTATGCTTCTCATTTCTGCTGCTGTTTTCACGTTTGCT GACTCTGCCCTACTTCCCCCTACTTTCAGCATCTGTTCATGGCCTCTGCT TCTCCTTT	FOCAD	ENSG00000188352.13	transcript	ENST00000338382.11	protein_coding	35/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
FOCAD_chr9_20679259_21000950	20974289	T T	TCTTTCAG others(377): Show TCTTTCAGCATCTGTTCATGGCCTCTGCTTCTCCTTTTTCCTATGTTTCT CCTTTCTGTAGCTGTTTTTTTCCTGCTGACTCTTGCTTCCCCATTTTAGC ATCTGCTAATTTGGTCTCTGCTTCTCCTTTTTCCTATGCTTCTCATTTCT GCTGCTGTTTTCACGTTTGCTGACTCTGCCCTACTTCCCTCTTCTTTCAG CATCTGTTCATGGCCTCTGCTTCTCCTTTTTCCTATGTTTCTCCTTTCTG CAGCTGATTTTTTCCTGCTGACTCTTGCTTCCCCATTTTAGCATCTGCTA ATTTGGCCTCTGCTTCTCCTTTTTCCTATGCTTCTCATTTCTGCTGCTGT TTTCATGTTTGCTGACTCTGCCCTACTTCCCCCTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00438.hp1 others(96): Show HG00280.hp1 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00735.hp2 HG01069.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01256.hp1 HG01928.hp2 HG01952.hp1 HG01981.hp1 HG02004.hp1 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02155.hp1 HG02258.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG02738.hp2 HG02895.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03491.hp1 HG03516.hp1 HG03579.hp2 HG03942.hp2 HG04184.hp2 NA18522.hp2 NA18939.hp2 NA18942.hp2 NA18944.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18961.hp2 NA18963.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18973.hp1 NA18977.hp2 NA18978.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18990.hp2 NA18994.hp1 NA18999.hp1 NA19002.hp2 NA19003.hp2 NA19006.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19054.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp2 NA19072.hp2 NA19074.hp1 NA19078.hp1 NA19084.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0005 a0006 others(7): Show a0001 a0005 a0006 a0008 a0020 a0022 a0023 a0029 a0031 a0032	a0001c0001 a0001c0010 a0001c0034 others(11): Show a0001c0001 a0001c0010 a0001c0034 a0001c0040 a0001c0046 a0005c0006 a0006c0005 a0008c0008 a0020c0045 a0022c0042 a0023c0032 a0029c0028 a0031c0027 a0032c0031	a0001c0001t0001 a0001c0001t0003 a0001c0010t0001 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0010t0001 a0001c0034t0001 a0001c0040t0001 a0001c0046t0001 a0005c0006t0001 a0006c0005t0001 a0008c0008t0001 a0020c0045t0001 a0022c0042t0001 a0023c0032t0001 a0029c0028t0004 a0031c0027t0001 a0032c0031t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(96): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0259 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0298 a0001c0001t0001g0320 a0001c0001t0003g0294 a0001c0010t0001g0099 a0001c0010t0001g0102 a0001c0010t0001g0197 a0001c0034t0001g0049 a0001c0040t0001g0089 a0001c0046t0001g0300 a0005c0006t0001g0004 a0005c0006t0001g0079 a0005c0006t0001g0121 a0005c0006t0001g0210 a0006c0005t0001g0313 a0008c0008t0001g0036 a0008c0008t0001g0104 a0008c0008t0001g0161 a0008c0008t0001g0167 a0008c0008t0001g0198 a0020c0045t0001g0249 a0022c0042t0001g0205 a0023c0032t0001g0317 a0029c0028t0004g0201 a0031c0027t0001g0097 a0032c0031t0001g0319	99	309	0.3204	384	c.413 others(403): Show c.4133-2095_4133-2094insTTCCTATGTTTCTCCTTTCTGTAGCT GTTTTTTTCCTGCTGACTCTTGCTTCCCCATTTTAGCATCTGCTAATTTG GTCTCTGCTTCTCCTTTTTCCTATGCTTCTCATTTCTGCTGCTGTTTTCA CGTTTGCTGACTCTGCCCTACTTCCCTCTTCTTTCAGCATCTGTTCATGG CCTCTGCTTCTCCTTTTTCCTATGTTTCTCCTTTCTGCAGCTGATTTTTT CCTGCTGACTCTTGCTTCCCCATTTTAGCATCTGCTAATTTGGCCTCTGC TTCTCCTTTTTCCTATGCTTCTCATTTCTGCTGCTGTTTTCATGTTTGCT GACTCTGCCCTACTTCCCCCTACTTTCAGCATCTGTTCATGGCCTCTGCT TCTCCTTT	FOCAD	ENSG00000188352.13	transcript	ENST00000338382.11	protein_coding	35/43		INFO_REALIGN_3_PRIME	chr9	TogoVar

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