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
CFAP61_chr20_20047532_20365698	20357749	C C	CACTGAGG others(370): Show CACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAG AGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAC ACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCATAGTGTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC TGTGAGGGGAGGTGGTCACATTGAGGAGAGGTGGTCATAGTGTGAGGGGA GGTGGTCACACTGAGGGGAGGTGGTCAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0224 a0001c0006t0002g0224	1	236	0.0042	377	c.351 others(396): Show c.3514-2460_3514-2459insCTGAGGGGAGGTGGTCATAGTGTGAG GGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGT CACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCAC AGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGG GAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATA GTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACATTGAGGAG AGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAT A	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CLPTM1L_chr5_1312752_1350099	1328767	C C	CTCCATCC others(370): Show CTCCATCCAGATCCTTCTCTACAGACACATTTCATCCAGCTCCTGCTCTA CAGACACATTGCATCCAGCTCCTCCTCTACAGACACATTTCATCCAGCTC CTCCTCTACAGACACATTCCATCCAGCTCCTCCTCTACAGACACATTTCA TCCAGCTCCTCCTCTACAGACACATTCCATCCAGCTCCTCCTCTACAGAC ACATTCCATCCAGCTCCTCCTCTACAGACACACTTCATCCAGCTCCTCCT CTACAGACAGTTTTCTTCCAGCTCCTTGTCTACAGACACATTTCATCCAG CTCCTCCTCTATAGACACATTCCATCCAGCTCCTCCTCTACAGACACATT TCATCCAGCTCCTCCTCTACAGGGACAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	370	0.0027	377	c.108 others(396): Show c.1080+1512_1080+1513insATGTCCCTGTAGAGGAGGAGCTGGAT GAAATGTGTCTGTAGAGGAGGAGCTGGATGGAATGTGTCTATAGAGGAGG AGCTGGATGAAATGTGTCTGTAGACAAGGAGCTGGAAGAAAACTGTCTGT AGAGGAGGAGCTGGATGAAGTGTGTCTGTAGAGGAGGAGCTGGATGGAAT GTGTCTGTAGAGGAGGAGCTGGATGGAATGTGTCTGTAGAGGAGGAGCTG GATGAAATGTGTCTGTAGAGGAGGAGCTGGATGGAATGTGTCTGTAGAGG AGGAGCTGGATGAAATGTGTCTGTAGAGGAGGAGCTGGATGCAATGTGTC TGTAGAGCAGGAGCTGGATGAAATGTGTCTGTAGAGAAGGATCTGGATGG A	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1328782	C C	CCTCTACA others(370): Show CCTCTACAGACACATTCCATCCAGCTCCTCCTCTACAGACACATTTCATC CAGCTCCTCCTCTACAGGGACACTCCATCCAGCTCCTCCTCTACAGACAC ATTTCATCCAGCTCCTCCTCTGCAGACACATTTCATCCAGCTCCTCCTCT ACGGACACATTTCATCCAGCTCCTCCTCTACAGACAGATTTCATCCAGCT CCTCCTCTACAGACACACTTCATCCAGCTCCTCCTCTACAGACAGTTTTC TTCCAGCTCCTTGTCTACAGACACATTTCATCCAGCTCCTCCTCTATAGA CACATTCCATCCAGCTCCTCCTCTACAGACACATTTCATCCAGCTCCTCC TCTACAGGGACACTCCATCCAGATCCTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	370	0.0027	377	c.108 others(396): Show c.1080+1497_1080+1498insAAGGATCTGGATGGAGTGTCCCTGTA GAGGAGGAGCTGGATGAAATGTGTCTGTAGAGGAGGAGCTGGATGGAATG TGTCTATAGAGGAGGAGCTGGATGAAATGTGTCTGTAGACAAGGAGCTGG AAGAAAACTGTCTGTAGAGGAGGAGCTGGATGAAGTGTGTCTGTAGAGGA GGAGCTGGATGAAATCTGTCTGTAGAGGAGGAGCTGGATGAAATGTGTCC GTAGAGGAGGAGCTGGATGAAATGTGTCTGCAGAGGAGGAGCTGGATGAA ATGTGTCTGTAGAGGAGGAGCTGGATGGAGTGTCCCTGTAGAGGAGGAGC TGGATGAAATGTGTCTGTAGAGGAGGAGCTGGATGGAATGTGTCTGTAGA G	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CUL4A_chr13_113204613_113272108	113232154	G G	GTCACCAC others(370): Show GTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACCACCCGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCA CTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCTGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0216 a0001c0001t0008g0216	1	396	0.0025	377	c.513 others(394): Show c.513-1023_513-1022insTCACCACTACCCGCCCACCACCATTACT GCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGTCACCACCACCCGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CUX2_chr12_111029165_111355554	111326378	T T	TGTGGGGG others(370): Show TGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGTTGGGGGAGGGGTG GGTTTTGTTTATAGTGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGT GTTGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGG TGGGTTTTGTTTATAGTGTTGTGATGGGGAGGGGTTGGTTTTGTTTATAG TGTTGTGGTGGGGGAGGGGTGGGTTTGTTTATAGTGTTGTGGTGGGGGAG GGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTTGGTTTTGTTT ATAGTGTGATGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGG AGGGGTTGGTTTTGTTTATAGTGTTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02965.hp1 HG03098.hp1 HG02809.hp2 HG02965.hp1 HG03098.hp1	a0001 a0001	a0001c0009 a0001c0019 a0001c0009 a0001c0019	a0001c0009t0001 a0001c0019t0004 a0001c0009t0001 a0001c0019t0004	a0001c0009t0001g0049 a0001c0009t0001g0050 a0001c0019t0004g0029 a0001c0009t0001g0049 a0001c0009t0001g0050 a0001c0019t0004g0029	3	100	0.0300	377	c.292 others(396): Show c.2926+3862_2926+3863insGTTGTGTTGGGGGAGGGGTGGGTTTT GTTTATAGTGTTGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTG GGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGATGGGGAGGGGTTGGTTT TGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTGTTTATAGTGTTGTG GTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTTG GTTTTGTTTATAGTGTGATGGGGGAGGGGTGGGTTTTGTTTATAGTGTTG TGGTGGGGGAGGGGTTGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGT GGGTTTTGTTTATAGTGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAG T	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CYP4F11_chr19_15907377_15939529	15933885	A A	AGGAATGA others(370): Show AGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGT GAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAG AGGAATGAGTGAGCGGGGAGAGGAGTGAGTGAGCGAGGAGAGGAGTGAGT GAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAG AGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAATGAGT GAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAG AGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGT GAGCGGGGAGAGGAATGAGTGAGCGGGC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0018 a0002c0001t0018	a0002c0001t0018g0133 a0002c0001t0018g0133	1	386	0.0026	377	c.198 others(392): Show c.198+325_198+326insGCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCT GCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCAC TCACTCCTCTCCTCGCTCACTCACTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DCDC2_chr6_24166755_24363059	24238178	G G	GAGGGAGG others(370): Show GAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGAA TGGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGG GGAGGGGGAGGGGAGTGGAAGGGTGAGGGGAGGGGGAGGGGAGTGGAAGG GGGAGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGG GGGAGGGGGAGGGGAGGGGAAGGGGAGGGGGAGGGGAGGGGGAGGGGAAG GGGAGGGGGGAGGGGGAGGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0012 a0002c0002t0003g0012	1	216	0.0046	377	c.923 others(396): Show c.923-33077_923-33076insTCCCCTCCCCCTCCCCCTCCCCCCTC CCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCTCCCCCTC CCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTC CCCCTTCCACTCCCCTCCCCCTCCCCTCACCCTTCCACTCCCCTCCCCCT CCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTC CATTCCTTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCC T	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DDX53_chrX_22994960_23008589	23002319	T T	TGAGAGAG others(370): Show TGAGAGAGAGACTATGTGAAGAGAAGGTAAATGTTATGTGTTGGTTAAAG TTTAATTTCTCCTAAAAATACTTTTATTTTAGGTTTGGGGGTATTTGTGA AGGTTTGTTAAAGAAACACGTGTCATGGGGGTTTATCAACTTTCAATATT GTGTATGCTCCTTAATTTTAAAAAAGTCTCAAAAATGAGAGAGTGAGAGA CTGTGTGAAGAGAAAGTGAATGTTACGTGTTGGTTAAAGTTTAATTTCTC TTAAAAATACTTTTATTTTAGGTTTGGGGGTATATGTGAAGGTTTGTTAA AGAAACACGTGCCATGGGGGTTTATCAACTTTCAATATTGTGTATGTTCC TTAATTTTAGAAAAAGTCTCAAAAATGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0000 a0001c0001t0018g0000	1	358	0.0028	377	c.56 others(386): Show c.567_*568insGTGTGAAGAGAAAGTGAATGTTACGTGTTGGTTAAA GTTTAATTTCTCTTAAAAATACTTTTATTTTAGGTTTGGGGGTATATGTG AAGGTTTGTTAAAGAAACACGTGCCATGGGGGTTTATCAACTTTCAATAT TGTGTATGTTCCTTAATTTTAGAAAAAGTCTCAAAAATGAGAGAGAGAGA CTATGTGAAGAGAAGGTAAATGTTATGTGTTGGTTAAAGTTTAATTTCTC CTAAAAATACTTTTATTTTAGGTTTGGGGGTATTTGTGAAGGTTTGTTAA AGAAACACGTGTCATGGGGGTTTATCAACTTTCAATATTGTGTATGCTCC TTAATTTTAAAAAAGTCTCAAAAATGAGAGAGTGAGAGACT	DDX53	ENSG00000184735.7	transcript	ENST00000327968.7	protein_coding	1/1	568	INFO_REALIGN_3_PRIME	chrX	TogoVar
DIDO1_chr20_62872743_62931505	62875296	G G	GCACCGGC others(370): Show GCACCGGCACCCCCACCCGCACCGGCACCCCCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCAC CCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCC CCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCACCCCCACCCCCA CCCCCACCCCCCACCCCCACCCGCACCCTCACCCCCACCCCCACCCTCAC CCCCACCCCCACCCGCACCCGCACCCGCACCCCCACCCCCACCCCCACCC GCACCCCCACCCCCACCCTCACCCTCACCCGCACCCGCACCCCCACCCTC ACCCCACCCCCACCCTCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0245 a0003c0003t0001g0245	1	320	0.0031	377	c.39 others(388): Show c.3936_*3937insGGGGTGGGGGTGAGGGTGGGGGTGGGGTGAGGGT GGGGGTGCGGGTGCGGGTGAGGGTGAGGGTGGGGGTGGGGGTGCGGGTGG GGGTGGGGGTGGGGGTGCGGGTGCGGGTGCGGGTGGGGGTGGGGGTGAGG GTGGGGGTGGGGGTGAGGGTGCGGGTGGGGGTGGGGGGTGGGGGTGGGGG TGGGGGTGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGG GGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGG GTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGT GGGGGTGGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCCGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2446		chr20	TogoVar
DNAJB6_chr7_157332004_157422439	157411220	T T	TTCCCTGC others(370): Show TTCCCTGCACTGAGCGGGGTGGGGGAGGCTCCCCAGGATCCCTGCACTGA GCGGGGTGGGGGAGACTCCCCACGGTTCCCTGCACTGAGCGGGCGTGGGG AAGGTTCCCAGGATCCCTGCACTGAGCGGGGTGGGGGAGACTCCCCACGG TTCCCTGCACTGAGCGGGGTGGGGGAGGCTCCCCACGGTTCCCTGCACTG AGCGGGGTGGGGGAGGCTCCCCACGGTTCCCTGCACTGAGCGGGGTGGGG GAGGCTCCCCACGGTTCCCTGCACTGAGCGGGGTGGGGGAGGCTCCCCAC GGTTCCCTGCACTGAGCGGGGTGGGGGAGGCTCCCCACGGTTCCCTGCAC TGAGCGGGGTGGGGGAGGCTCCCCAGGA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0240 a0001c0001t0004g0240	1	372	0.0027	377	c.898 others(394): Show c.898+1245_898+1246insGCTCCCCAGGATCCCTGCACTGAGCGGG GTGGGGGAGACTCCCCACGGTTCCCTGCACTGAGCGGGCGTGGGGAAGGT TCCCAGGATCCCTGCACTGAGCGGGGTGGGGGAGACTCCCCACGGTTCCC TGCACTGAGCGGGGTGGGGGAGGCTCCCCACGGTTCCCTGCACTGAGCGG GGTGGGGGAGGCTCCCCACGGTTCCCTGCACTGAGCGGGGTGGGGGAGGC TCCCCACGGTTCCCTGCACTGAGCGGGGTGGGGGAGGCTCCCCACGGTTC CCTGCACTGAGCGGGGTGGGGGAGGCTCCCCACGGTTCCCTGCACTGAGC GGGGTGGGGGAGGCTCCCCAGGATCCCTGCACTGAGCGGGGTGGGGGAG	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
EHMT1_chr9_137614005_137841127	137716289	T T	TGGGGGGA others(370): Show TGGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTG TCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGG AGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCAT GGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGGT GGGGGAGGAAGTTGTGTTGGTGTCGTGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0066 a0007c0015t0001g0066	1	170	0.0059	377	c.86- others(390): Show c.86-332_86-331insGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAA GTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGT CATGGTGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTC ATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGTTGTGG TGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCGTGGGGGGG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(370): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCC CACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCC ACCTCCCTCCCGGAAGGGGTGGCTGGCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0140 a0001c0003t0005g0140	1	422	0.0024	377	c.145 others(394): Show c.145+3470_145+3471insGGCTGGCCGGGCGGGGGGCTGACCCCCC CCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CCCACCTCCCTCCCGGACAGGGCGGCTGGCTGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGCG GCTGGCCGGGTGGGGGGATGACCCCCCCACCTCCCTCCTGGACGGGGCGG CTGGCCGGGTGGGGGGCTGACCTCCCCACCTCCCTCCCGGAAGGGGTGGC TGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(370): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCC CACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCC ACCTCCCTCCCGGAAGGGGTGGCTGGCT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0131 a0001c0002t0002g0131	1	422	0.0024	377	c.145 others(394): Show c.145+3496_145+3497insCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCC CCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCC CACCTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(370): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCC CACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCC ACCTCCCTCCCGGAAGGGGTGGCTGGCT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0120 a0001c0002t0002g0120	1	422	0.0024	377	c.145 others(394): Show c.145+3496_145+3497insCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCC CCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCC CACCTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(370): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCC CCACCTCCCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCC CACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCC ACCTCCCTCCCGGAAGGGGTGGCTGGCT	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0216 a0001c0001t0057g0216	1	422	0.0024	377	c.145 others(394): Show c.145+3496_145+3497insCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCACCTCCCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCC CCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCC CACCTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(370): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCC CACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCC ACCTCCCTCCCGGAAGGGGTGGCTGGCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0064 a0001c0002t0002g0064	1	422	0.0024	377	c.145 others(394): Show c.145+3496_145+3497insCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCC CCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCC CACCTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(370): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCACCTCCCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCC CACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCC ACCTCCCTCCCGGAAGGGGTGGCTGGCT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	422	0.0024	377	c.145 others(394): Show c.145+3496_145+3497insCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCC CCCCACCTCCCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCC CCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCC CACCTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(370): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCACCTCCCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCC CACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCC ACCTCCCTCCCGGAAGGGGTGGCTGGCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	422	0.0024	377	c.145 others(394): Show c.145+3496_145+3497insCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCC CCCCACCTCCCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCC CCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCC CACCTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(370): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCACCTCTCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCC CACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCC ACCTCCCTCCCGGAAGGGGTGGCTGGCT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0146 a0001c0003t0001g0146	1	422	0.0024	377	c.145 others(394): Show c.145+3496_145+3497insCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCC CCCCACCTCTCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCC CCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCC CACCTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(370): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCC CCACCTCCCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCC CACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCC ACCTCCCTCCCGGAAGGGGTGGCTGGCT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	422	0.0024	377	c.145 others(394): Show c.145+3496_145+3497insCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCACCTCCCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCC CCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCC CACCTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4EBP2_chr10_70399145_70433618	70408035	A A	ACCCCCCC others(370): Show ACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCTGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCCACCTCCCTCCTGGA CGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCACCTCCCTCCCGGAA GGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0138 a0001c0003t0005g0138	1	422	0.0024	377	c.145 others(394): Show c.145+3496_145+3497insCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCC ACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCA CCTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4EBP2_chr10_70399145_70433618	70408035	A A	ACCCCCCC others(370): Show ACCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCTGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTTCC GGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCCACCTCCCTCCTGG ACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCACCTCCCTCCCGGA AGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	422	0.0024	377	c.145 others(394): Show c.145+3496_145+3497insCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCACCTCCCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCC CACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCC ACCTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIPR1_chr2_3183970_3382818	3221594	T T	TCGGGAAC others(370): Show TCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAG TGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTC ACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGC ACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTA GAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACAC TCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGT ACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCG AGGTACACTCTAGAGCACTCACAGTGAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	250	0.0040	377	c.417 others(394): Show c.417-7347_417-7346insCTCACTGTGAGTGCTCTAGAGTGTACCT CGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGT ACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGA GTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTC TAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGT GCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGT GAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCA CTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EVC_chr4_5706201_5819305	5706437	G G	GATACATA others(370): Show GATACATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATACA TAGATAACATACATAGATAGATAGATACATACATACATACATACATACAT AGATACATAGATAGATAGATACATAGATACATAGATAGATAGATAGATAC ATACATACATACATACATAGATACATAGATAGATAGATAGATAGATACAT AGATAGATACATAGATAGATAGATAGATACATAGATACATACATAGATAG ATAGATAGATACATAGATAGATAGATACATAGATACATAGATAGATAGAT AGATACATAGATAGATAGATAGACACATAGATAGATACATAGATAGATAG ATACATAGATACATAGATAGATAGATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0046 a0001c0008t0001g0046	1	369	0.0027	377	c.-49 others(388): Show c.-4944_-4943insATACATAGATAGATAGATAGATAGATAGATACAT AGATAGATAGATACATAGATAACATACATAGATAGATAGATACATACATA CATACATACATACATAGATACATAGATAGATAGATACATAGATACATAGA TAGATAGATAGATACATACATACATACATACATAGATACATAGATAGATA GATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGA TACATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATA CATAGATAGATAGATAGATACATAGATAGATAGATAGACACATAGATAGA TACATAGATAGATAGATACATAGATACATAGATAGATAGATAC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4763		chr4	TogoVar
EVC_chr4_5706201_5819305	5706437	G G	GATACATA others(370): Show GATACATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATACA TAGATAACATACATAGATAGATAGATAGATACATACATACATACATACAT AGATACATAGATAGATAGATACATAGATACATAGATAGATAGATAGATAC ATACATACATACATACATAGATACATAGATAGATAGATAGATAGATACAT AGATAGATACATAGATAGATAGATAGATACATAGATACATACATAGATAG ATAGATAGATACATAGATAGATAGATACATAGATACATAGATAGATAGAT AGATACATAGATAGATAGATAGACACATAGATAGATACATAGATAGATAG ATACATAGATACATAGATAGATAGATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18966.hp2 NA18747.hp1 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0017 a0001c0002 a0001c0017	a0001c0002t0003 a0001c0017t0003 a0001c0002t0003 a0001c0017t0003	a0001c0002t0003g0025 a0001c0017t0003g0023 a0001c0002t0003g0025 a0001c0017t0003g0023	2	369	0.0054	377	c.-49 others(388): Show c.-4944_-4943insATACATAGATAGATAGATAGATAGATAGATACAT AGATAGATAGATACATAGATAACATACATAGATAGATAGATAGATACATA CATACATACATACATAGATACATAGATAGATAGATACATAGATACATAGA TAGATAGATAGATACATACATACATACATACATAGATACATAGATAGATA GATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGA TACATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATA CATAGATAGATAGATAGATACATAGATAGATAGATAGACACATAGATAGA TACATAGATAGATAGATACATAGATACATAGATAGATAGATAC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4763		chr4	TogoVar
FAM234A_chr16_229821_271096	267540	C C	CATGCATG others(370): Show CATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCACAC GTGCTATGCATACACACCACACGTGTGCCTCACAGTGCTACACATGCCTC ATACACATGACACGTGCACACACCACATATGCATGCCTCAGTACACCTGC ACACGTGCACTAAACACAATCACACATGCTATGCGTACACACCACACGTG TGCCTCACAGTGCTACACATGCATCCTACACGACACGTGCACACACACCA CACATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCAC ACATGCTATGTGTACACACCACACGTGTGCCTCAGTGCTACACATGCCTC ATACACACGACACGTGCACACACCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01361.hp2 HG02015.hp2 others(13): Show HG00621.hp1 HG01361.hp2 HG02015.hp2 HG02074.hp2 HG02083.hp2 HG03486.hp2 HG06807.hp1 NA18943.hp1 NA18959.hp2 NA18969.hp1 NA18982.hp2 NA19001.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19064.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0003 a0008c0013 a0001c0001 a0002c0003 a0008c0013	a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 a0008c0013t0008	a0001c0001t0001g0060 a0001c0001t0003g0036 a0002c0003t0001g0017 others(12): Show a0001c0001t0001g0060 a0001c0001t0003g0036 a0002c0003t0001g0017 a0002c0003t0001g0364 a0002c0003t0001g0365 a0002c0003t0001g0366 a0002c0003t0001g0367 a0002c0003t0001g0369 a0002c0003t0001g0370 a0002c0003t0001g0371 a0002c0003t0001g0372 a0002c0003t0001g0374 a0002c0003t0001g0375 a0002c0003t0001g0376 a0008c0013t0008g0368	16	408	0.0392	377	c.25 others(388): Show c.2518_*2519insATGCATGCCTCACAGTACACCTGCACACGTGCAC TACACACAATCACACGTGCTATGCATACACACCACACGTGTGCCTCACAG TGCTACACATGCCTCATACACATGACACGTGCACACACCACATATGCATG CCTCAGTACACCTGCACACGTGCACTAAACACAATCACACATGCTATGCG TACACACCACACGTGTGCCTCACAGTGCTACACATGCATCCTACACGACA CGTGCACACACACCACACATGCATGCCTCACAGTACACCTGCACACGTGC ACTACACACAATCACACATGCTATGTGTACACACCACACGTGTGCCTCAG TGCTACACATGCCTCATACACACGACACGTGCACACACCACAT	FAM234A	ENSG00000167930.17	transcript	ENST00000399932.8	protein_coding		1445		chr16	TogoVar
FAM234A_chr16_229821_271096	267540	C C	CATGCATG others(370): Show CATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCACAC GTGCTATGCATACACACCACACGTGTGCCTCACAGTGCTACACATGCCTC ATACACATGACACGTGCACACACCACATATGCATGCCTCAGTACACCTGC ACACGTGCACTAAACACAATCACACATGCTATGCGTACACACCACACGTG TGCCTCTCAGTGCTACACACGCATCCTACACGACACGTGCACACACACCA CACATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCAC ACATGCTATGTGTACACACCACACGTGTGCCTCAGTGCTACACATGCCTC ATACACACGACACGTGCACACACCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02886.hp2 HG02717.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0244 a0001c0001t0004g0245	2	408	0.0049	377	c.25 others(388): Show c.2518_*2519insATGCATGCCTCACAGTACACCTGCACACGTGCAC TACACACAATCACACGTGCTATGCATACACACCACACGTGTGCCTCACAG TGCTACACATGCCTCATACACATGACACGTGCACACACCACATATGCATG CCTCAGTACACCTGCACACGTGCACTAAACACAATCACACATGCTATGCG TACACACCACACGTGTGCCTCTCAGTGCTACACACGCATCCTACACGACA CGTGCACACACACCACACATGCATGCCTCACAGTACACCTGCACACGTGC ACTACACACAATCACACATGCTATGTGTACACACCACACGTGTGCCTCAG TGCTACACATGCCTCATACACACGACACGTGCACACACCACAT	FAM234A	ENSG00000167930.17	transcript	ENST00000399932.8	protein_coding		1445		chr16	TogoVar
FAM234A_chr16_229821_271096	267540	C C	CATGCATG others(370): Show CATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCACAC GTGCTATGCATACACACCACACGTGTGCCTCACAGTGCTACACATGCCTC ATACACATGACACGTGCACACACCACATATGCATGCCTCAGTACACCTGC ACACGTGCACTAAACACAATCACACATGCTATGCGTACACACCACACGTG TGCCTCTCAGTGCTACACATGCATCCTACACGACACGTGCACACACACCA CACATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCAC ACATGCTATGTGTACACACCACACGTGTGCCTCAGTGCTACACATGCCTC ATACACACGACACGTGCACACACCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02109.hp1 others(29): Show HG01243.hp2 HG01891.hp2 HG02109.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp2 NA18906.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0001c0012 others(1): Show a0001c0001 a0001c0006 a0001c0012 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0006t0001 a0001c0012t0004 a0004c0007t0001	a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0230 others(29): Show a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0243 a0001c0001t0001g0287 a0001c0001t0001g0341 a0001c0001t0001g0356 a0001c0001t0001g0361 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0283 a0001c0001t0003g0288 a0001c0001t0003g0347 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0228 a0001c0001t0005g0009 a0001c0001t0005g0127 a0001c0001t0005g0240 a0001c0001t0005g0242 a0001c0001t0007g0377 a0001c0001t0007g0378 a0001c0001t0008g0247 a0001c0006t0001g0037 a0001c0006t0001g0038 a0001c0006t0001g0055 a0001c0012t0004g0238 a0004c0007t0001g0050 a0004c0007t0001g0051	32	408	0.0784	377	c.25 others(388): Show c.2518_*2519insATGCATGCCTCACAGTACACCTGCACACGTGCAC TACACACAATCACACGTGCTATGCATACACACCACACGTGTGCCTCACAG TGCTACACATGCCTCATACACATGACACGTGCACACACCACATATGCATG CCTCAGTACACCTGCACACGTGCACTAAACACAATCACACATGCTATGCG TACACACCACACGTGTGCCTCTCAGTGCTACACATGCATCCTACACGACA CGTGCACACACACCACACATGCATGCCTCACAGTACACCTGCACACGTGC ACTACACACAATCACACATGCTATGTGTACACACCACACGTGTGCCTCAG TGCTACACATGCCTCATACACACGACACGTGCACACACCACAT	FAM234A	ENSG00000167930.17	transcript	ENST00000399932.8	protein_coding		1445		chr16	TogoVar
FAM234A_chr16_229821_271096	267540	C C	CATGCATG others(370): Show CATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCACAC GTGCTATGCGTACACACCACACGTGTGCCTCACAGTGCTACACATGCCTC ATACACATGACACGTGCACACACCACATATGCATGCCTCAGTACACCTGC ACACGTGCACTAAACACAATCACACATGCTATGCGTACACACCACACGTG TGCCTCTCAGTGCTACACATGCATCCTACACGACACGTGCACACACACCA CACATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCAC ACATGCTATGTGTACACACCACACGTGTGCCTCAGTGCTACACATGCCTC ATACACACGACACGTGCACACACCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0363 a0001c0006t0006g0363	1	408	0.0025	377	c.25 others(388): Show c.2518_*2519insATGCATGCCTCACAGTACACCTGCACACGTGCAC TACACACAATCACACGTGCTATGCGTACACACCACACGTGTGCCTCACAG TGCTACACATGCCTCATACACATGACACGTGCACACACCACATATGCATG CCTCAGTACACCTGCACACGTGCACTAAACACAATCACACATGCTATGCG TACACACCACACGTGTGCCTCTCAGTGCTACACATGCATCCTACACGACA CGTGCACACACACCACACATGCATGCCTCACAGTACACCTGCACACGTGC ACTACACACAATCACACATGCTATGTGTACACACCACACGTGTGCCTCAG TGCTACACATGCCTCATACACACGACACGTGCACACACCACAT	FAM234A	ENSG00000167930.17	transcript	ENST00000399932.8	protein_coding		1445		chr16	TogoVar
FAM234A_chr16_229821_271096	267569	G G	GTGCACTA others(370): Show GTGCACTACACACAATCACACGTGCTATGCATACACACCACACGTGTGCC TCACAGTGCTACACATGCCTCATACACATGACACGTGCACACACCACATA TGCATGCCTCAGTACACCTGCACACGTGCACTAAACACAATCACACATGC TATGCGTACACACCACACGTGTGCCTCTCAGTGCTACACATGCATCCTAC ACGACACGTGCACACACACCACACATGCATGCCTCACAGTACACCTGCAC ACGTGCACTACACACAATCACACATGCTATGTGTACACACCACACGTGTG CCTCAGTGCTACACATGCCTCATACACACGACACGTGCACACACCACATA TGCATGCCTCACAGTACACCTGCACACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG03209.hp1 HG01106.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0246 a0001c0001t0001g0231 a0001c0001t0001g0246	2	408	0.0049	377	c.25 others(388): Show c.2547_*2548insTGCACTACACACAATCACACGTGCTATGCATACA CACCACACGTGTGCCTCACAGTGCTACACATGCCTCATACACATGACACG TGCACACACCACATATGCATGCCTCAGTACACCTGCACACGTGCACTAAA CACAATCACACATGCTATGCGTACACACCACACGTGTGCCTCTCAGTGCT ACACATGCATCCTACACGACACGTGCACACACACCACACATGCATGCCTC ACAGTACACCTGCACACGTGCACTACACACAATCACACATGCTATGTGTA CACACCACACGTGTGCCTCAGTGCTACACATGCCTCATACACACGACACG TGCACACACCACATATGCATGCCTCACAGTACACCTGCACACT	FAM234A	ENSG00000167930.17	transcript	ENST00000399932.8	protein_coding		1474		chr16	TogoVar
FAM3B_chr21_41311801_41362727	41313621	G G	GATCCATT others(370): Show GATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTGAT CCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTGATCCA TTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTGATCCATTC TTGAACCTCATGATACAGTATGTATGCATGTCGCATTTGATCCATTCTTG AACCTCATGATACAGTATGTATGCATGTCGCATTTGATCCATTCTTGAAC CTCATGATACAGTATGTATGCATGTCGCATTTGATCCATTCTTGAACCTC ATCATACAGTATGTATGCATGTCGCATTTGATCCATTCTTGAACCTCATC ATACAGTATGTATGCATGTCGCATTTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0016 a0003c0004t0001g0016	1	314	0.0032	377	c.-32 others(388): Show c.-3259_-3258insATCCATTCTTGAACCTCATCATACAGTATGTATG CATGTCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCAT GTCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTC GCATTTGATCCATTCTTGAACCTCATGATACAGTATGTATGCATGTCGCA TTTGATCCATTCTTGAACCTCATGATACAGTATGTATGCATGTCGCATTT GATCCATTCTTGAACCTCATGATACAGTATGTATGCATGTCGCATTTGAT CCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTGATCCA TTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTGA	FAM3B	ENSG00000183844.17	transcript	ENST00000357985.7	protein_coding		3179		chr21	TogoVar
FEM1A_chr19_4786734_4806273	4798488	T T	TAGTCCCA others(370): Show TAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACTCAGG AGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTCGG TGACAGAGCGAGACTCCGTCTCAAAAAACAAACAAACAAACAAACAAAAC AAAGCAGGTCCGGTATGGCAGGCGGGGGAACTGAGGCTACTAAGAGACAT TAAGATGCTTAAGGACAGCCGGGCGCGGTGGCAGACGCCTGTAATCCCAG CACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGACCAAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTCTACTAAAAGCACAAAAAA TTAGCCAGGCATGGTGGTGGGCGCTTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0057 a0005c0017t0057	a0005c0017t0057g0000 a0005c0017t0057g0000	1	430	0.0023	377	c.47 others(388): Show c.4720_*4721insCGGTGACAGAGCGAGACTCCGTCTCAAAAAACAA ACAAACAAACAAACAAAACAAAGCAGGTCCGGTATGGCAGGCGGGGGAAC TGAGGCTACTAAGAGACATTAAGATGCTTAAGGACAGCCGGGCGCGGTGG CAGACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACG AGGTCAGGAGACCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT CTACTAAAAGCACAAAAAATTAGCCAGGCATGGTGGTGGGCGCTTGCAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACTCAGGAGGC GGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCT	FEM1A	ENSG00000141965.5	transcript	ENST00000269856.5	protein_coding	1/1	4721	INFO_REALIGN_3_PRIME	chr19	TogoVar
FHIT_chr3_59742277_61256452	60861197	T T	TCTGTTCT others(370): Show TCTGTTCTATGATATATATGATACATATCATCTATGATATATATGATACA TATCATCTATGATATATATGATACATATCATCTATGATATATATCATATA TCATATATATCATATCATATCATCTATGATATATATCATATATCATATAT ATCATATCATATCATATATGATATATATGATATATATGATATATCATATA TAATATATGATATATATGATATATATGATATATCATATATAATATATGAT ATATATGATATATCATATATAATATATGATATATATGATATATCATATCA TATAATATATGATATATATGATATATATGATATATCATATCATATAATAT ATGATATATATGATATATATGATATATC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0003 a0001c0001t0013g0003	1	46	0.0217	377	c.-11 others(398): Show c.-110-39187_-110-39186insGATATATCATATATATCATATATA TCATATATTATATGATATGATATATCATATATATCATATATATCATATAT TATATGATATGATATATCATATATATCATATATTATATATGATATATCAT ATATATCATATATTATATATGATATATCATATATATCATATATATCATAT ATTATATATGATATATCATATATATCATATATATCATATATGATATGATA TGATATATATGATATATGATATATATCATAGATGATATGATATGATATAT ATGATATATGATATATATCATAGATGATATGTATCATATATATCATAGAT GATATGTATCATATATATCATAGATGATATGTATCATATATATCATAGAA CAG	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(370): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA GGGAGACGGGGAGAGGGGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGG AGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAG GGAGACGAGAGGGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0026 a0002c0002t0002g0026	1	370	0.0027	377	c.39 others(388): Show c.3959_*3960insTCTCCCTCTCCCTCTCCCTCTCGTCTCCCTCTCC CTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGC CTCCCTCTCCCTCTCCCCGTCTCCCTCCCCTCTCCCCGTCTCCCTCTCCC TCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTC CCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCG TCTCCCTCTCCCTCTCCCCGTCTCCCGTCTCCCTCTCCCTCTCCCTCTCC CCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGT CTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar
FLT3_chr13_27998274_28105576	27998891	T T	TATTTATA others(370): Show TATTTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATATTTATATACATATAAATATATATATT TATATACATATAAATATATATATTTATATACATATAAATATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATATTTATA TACATATAAATATATATATTTATATACATATAAATATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATATTTATATACA TATAAATATATATATTTATATACATATAAATATATATATTTATATACATA TAAATATATATATTTATATACATATAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0016 a0016	a0016c0044 a0016c0044	a0016c0044t0004 a0016c0044t0004	a0016c0044t0004g0224 a0016c0044t0004g0224	1	292	0.0034	377	c.51 others(388): Show c.5160_*5161insTTTATATGTATATAAATATATATATTTATATGTA TATAAATATATATATTTATATGTATATAAATATATATATTTATATGTATA TAAATATATATATTTATATGTATATAAATATATATATTTATATGTATATA AATATATATATTTATATGTATATAAATATATATATTTATATGTATATAAA TATATATATTTATATGTATATAAATATATATATTTATATGTATATAAATA TATATATTTATATGTATATAAATATATATATTTATATGTATATAAATATA TATATTTATATGTATATAAATATATATATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATATTTATATGTATATAAAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4382		chr13	TogoVar
GPATCH2_chr1_217421992_217636090	217524926	G G	GGGAGAGG others(370): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18983.hp1 HG02145.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0049 a0001c0001t0001g0023 a0001c0001t0001g0049	2	188	0.0106	377	c.109 others(398): Show c.1099-10038_1099-10037insTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCC	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GRIN3A_chr9_101564352_101743647	101659358	T T	TGTATCTA others(370): Show TGTATCTATGTATTTATTTATACATAGAAAGTATCTATGTATTTATTTAT ACATAGAAAGTATCTATGTATTTATTTATACATAGAAAGTATCTATGTAT TTATTTATACATAGAAAGTATCTATGTATTTATTTATACATAGAAAGTAT CTATGTATTTATTTATACATAGAAAGTATCTATGTATTTATTTATACATA GAAAGTATCTATGTATTTATTTATACATAGAAAGTATCTATGTATTTATT TATACATAGAAAGTATCTATGTATTTATTTATACATAGAAAGTATCTATG TATTTATTTATACATAGAAAGTATCTATGTATTTATTTATACATAGAAAG TATCTATGTATTTATTTATACATAGAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0036 a0001c0015t0036	a0001c0015t0036g0217 a0001c0015t0036g0217	1	324	0.0031	377	c.235 others(398): Show c.2352+10701_2352+10702insTTTCTATGTATAAATAAATACATA GATACTTTCTATGTATAAATAAATACATAGATACTTTCTATGTATAAATA AATACATAGATACTTTCTATGTATAAATAAATACATAGATACTTTCTATG TATAAATAAATACATAGATACTTTCTATGTATAAATAAATACATAGATAC TTTCTATGTATAAATAAATACATAGATACTTTCTATGTATAAATAAATAC ATAGATACTTTCTATGTATAAATAAATACATAGATACTTTCTATGTATAA ATAAATACATAGATACTTTCTATGTATAAATAAATACATAGATACTTTCT ATGTATAAATAAATACATAGATACTTTCTATGTATAAATAAATACATAGA TAC	GRIN3A	ENSG00000198785.7	transcript	ENST00000361820.6	protein_coding	3/8			chr9	TogoVar
GSE1_chr16_85608322_85681200	85653220	T T	TCCTCCCC others(370): Show TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCC CTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCC CCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCC CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCC TCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCC TCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTC CTCCTCCCCCCTCCTCCTCCTCCTCCCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0044 a0001c0001t0029g0044	1	290	0.0035	377	c.427 others(394): Show c.427-1053_427-1052insCCCCTCCTCCCCCCTCCTCCCCCCTCCT CCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCTC CTCCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCT CCTCCCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCT CCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCC TCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCC TCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTC CTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
HCFC2_chr12_104059531_104111524	104093799	G G	GCTGTTAC others(370): Show GCTGTTACTTACTGGCTACCTGGCTGTAGGTGTATTACTTAAGTTCTCTG AGTATCATTTTCTTCATCTATAAAAAAAGGGTCAAGTTATCTTACTGATA GGATTCTTGTGAAGATTAAGTAAGATACAGAGTTTATGGATATATATAGT ACACTGCCTGCCATAATGCCTGGCATAGTTGTGGCTATCATTATCATCAT CACTTATAAACAGTAGCACCACCAATTAAGGGCAAGCACAGGGCATATTA TAGACAAGTATCCTCAGAGCTATGAGAAATTATGAGCCAACAATAAAAAT AGAGAGAGAACAGTAACAAAAAACAGGTAATTAGAAAGAACAACAATATT AGGGTATTTGAATGAAGCCAGGTCACTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	382	0.0026	377	c.146 others(394): Show c.1462+237_1462+238insTGTTACTTACTGGCTACCTGGCTGTAGG TGTATTACTTAAGTTCTCTGAGTATCATTTTCTTCATCTATAAAAAAAGG GTCAAGTTATCTTACTGATAGGATTCTTGTGAAGATTAAGTAAGATACAG AGTTTATGGATATATATAGTACACTGCCTGCCATAATGCCTGGCATAGTT GTGGCTATCATTATCATCATCACTTATAAACAGTAGCACCACCAATTAAG GGCAAGCACAGGGCATATTATAGACAAGTATCCTCAGAGCTATGAGAAAT TATGAGCCAACAATAAAAATAGAGAGAGAACAGTAACAAAAAACAGGTAA TTAGAAAGAACAACAATATTAGGGTATTTGAATGAAGCCAGGTCACTTC	HCFC2	ENSG00000111727.12	transcript	ENST00000229330.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
HECTD4_chr12_112155195_112387431	112339310	C C	CAAGAAAA others(370): Show CAAGAAAATGCAAGTCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAGAAAAAAAAGAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	270	0.0037	377	c.178 others(396): Show c.178-19569_178-19568insTTTTTTTTTTCTTTTTTTTCTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGTGACTTGCATTTTCT T	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HOMEZ_chr14_23267422_23291132	23280740	A A	ATTTTATT others(370): Show ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0043 a0001c0008t0043	a0001c0008t0043g0183 a0001c0008t0043g0183	1	394	0.0025	377	c.41- others(392): Show c.41-3554_41-3553insAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
IFNAR1_chr21_33319970_33364864	33322896	C C	CGGAATAT others(370): Show CGGAATATATACGGAATATATATACGGAATGTATATACGGAATATATATA CGGAATGTATATATATGGAATATATATACGGAATGTATATACGGAATATA TATATATGGAATATATATACGGAATATATATATATGGAATATATATACGG AATATATATATATGGAATATATATACGGAATATATATATATGGAACATAT ATATACGGAATATATACATATGGAACATATATATATGGAATATATACATA TGGAACATATATATGGAATATATACATATGGAACATATATATGGAATATA TACATATGGAACATATATATGGAATATATATATATGGAATATATATATGG AATATATATATATGGAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0123 a0003c0003t0004g0123	1	323	0.0031	377	c.-21 others(388): Show c.-2160_-2159insGGAATATATACGGAATATATATACGGAATGTATA TACGGAATATATATACGGAATGTATATATATGGAATATATATACGGAATG TATATACGGAATATATATATATGGAATATATATACGGAATATATATATAT GGAATATATATACGGAATATATATATATGGAATATATATACGGAATATAT ATATATGGAACATATATATACGGAATATATACATATGGAACATATATATA TGGAATATATACATATGGAACATATATATGGAATATATACATATGGAACA TATATATGGAATATATACATATGGAACATATATATGGAATATATATATAT GGAATATATATATGGAATATATATATATGGAATATATATATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2073		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322912	T T	TATATATG others(370): Show TATATATGGAATATATATATACGGAATATATATATAATATATATACGGAA TATATATATACGGAATGTATATATACGGAATATATATACGGAATGTATAT ATACGGAATATATATACGGAATGTATATATACGGAATATATATACGGAAT GTATATATACGGAATATATATACGGAATGTATATATACGGAATACATATA TACGGAATACATATATACGGAATACATATATACGGAATACATATATATGG AATACATATATACGGAATACATATATGGAATACATATATGGAATATATAT ATATGGAATACATATATGGAATATATATATATGGAATATATATATGGAAT ATATATATATGGAATATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0017 a0001c0001t0015g0017	1	323	0.0031	377	c.-21 others(388): Show c.-2144_-2143insATATATGGAATATATATATACGGAATATATATAT AATATATATACGGAATATATATATACGGAATGTATATATACGGAATATAT ATACGGAATGTATATATACGGAATATATATACGGAATGTATATATACGGA ATATATATACGGAATGTATATATACGGAATATATATACGGAATGTATATA TACGGAATACATATATACGGAATACATATATACGGAATACATATATACGG AATACATATATATGGAATACATATATACGGAATACATATATGGAATACAT ATATGGAATATATATATATGGAATACATATATGGAATATATATATATGGA ATATATATATGGAATATATATATATGGAATATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2057		chr21	TogoVar
LAMC1_chr1_183018420_183150592	183149881	C C	CCTCACAC others(370): Show CCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCTC ACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCCTCACACA CCACACAGCTCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCC CTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACACAC CACACAGCTCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCC TCTCCTCACACACTACACAGCTCACACCCCTCTCCTCCTCACACCACACA GCTCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCT CCTCACACACCACACAGCTCACACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0240 a0003c0004t0007g0240	1	308	0.0033	377	c.70 others(388): Show c.7091_*7092insCTCACACACCACACAGCTCACATCCCTCTCCTCA CACACCACACAGCTCACACCCCTGTCCTCCTCACACACCACACAGCCCAC ACCCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACACACC ACACAGCTCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCT CTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACACACCA CACAGCTCACACCCCTCTCCTCACACACTACACAGCTCACACCCCTCTCC TCCTCACACCACACAGCTCACACCCCTCTCCTCCTCACACACCACACAGC TCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCT	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		4290		chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(370): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 NA18998.hp1 HG00408.hp1 HG00544.hp2 NA18998.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0010 a0002c0003t0002 a0002c0003t0006 a0001c0001t0010 a0002c0003t0002 a0002c0003t0006	a0001c0001t0010g0146 a0002c0003t0002g0088 a0002c0003t0006g0091 a0001c0001t0010g0146 a0002c0003t0002g0088 a0002c0003t0006g0091	3	296	0.0101	377	c.368 others(394): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGT ATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGC CCGGTATGTAGTAAGTACGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCG GGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGT GGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC23_chr12_6899822_6919229	6909163	T T	TTTATTAA others(370): Show TTTATTAATAATATATATAATATATATATTTATTTATATATATATTATTA TATGTATATAAATATATATATTTATTAATATATATAAATATATATATTTA TTAATAATATATATAATATATATAATATATAATATATAATATATAATATA TATTTATATATAATATATAATATATAATATATAATATATTATATATAATA TATTATATATAATTATATATAATATATAATTATATATTATATATAATTAT ATAATATATAATATATATATTATTATATATATAATAATATATATATAATA TATAATTATACATAATATATAATATATAATTATAATATATAATATATATT ATATATATTAATATATAATATATAAATA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0145 a0002c0002t0002g0145	1	316	0.0032	377	c.622 others(392): Show c.622-727_622-726insTTATTAATAATATATATAATATATATATTT ATTTATATATATATTATTATATGTATATAAATATATATATTTATTAATAT ATATAAATATATATATTTATTAATAATATATATAATATATATAATATATA ATATATAATATATAATATATATTTATATATAATATATAATATATAATATA TAATATATTATATATAATATATTATATATAATTATATATAATATATAATT ATATATTATATATAATTATATAATATATAATATATATATTATTATATATA TAATAATATATATATAATATATAATTATACATAATATATAATATATAATT ATAATATATAATATATATTATATATATTAATATATAATATATAAATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
LRRC23_chr12_6899822_6919229	6909165	A A	ATATATAA others(370): Show ATATATAATATATAATATATATTTATTAATAATATATATAATATATATAT TTATTTATATATATATTATTATATATATAAATATATATATATTTATTAAT ATATATATAAATATATATATATTTATTAATAATATATATAATATATATAT ATAATATATAATATATAATATATAATATATATTTATATATAATATATAAT ATATAATATATAATTATATATTATATATAATTATATATTATATATAATTA TATAATATATAATATATATATTATTATATATATAATAATATATATATAAT ATATAATTATACATAATATATAATATATATTATAATATATAATATATATT ATATATTAATATATAATATATAAATAAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0046 a0002c0002t0002g0046	1	316	0.0032	377	c.622 others(392): Show c.622-725_622-724insTATATAATATATAATATATATTTATTAATA ATATATATAATATATATATTTATTTATATATATATTATTATATATATAAA TATATATATATTTATTAATATATATATAAATATATATATATTTATTAATA ATATATATAATATATATATATAATATATAATATATAATATATAATATATA TTTATATATAATATATAATATATAATATATAATTATATATTATATATAAT TATATATTATATATAATTATATAATATATAATATATATATTATTATATAT ATAATAATATATATATAATATATAATTATACATAATATATAATATATATT ATAATATATAATATATATTATATATTAATATATAATATATAAATAAT	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
LRRC23_chr12_6899822_6919229	6909259	T T	TTATATAA others(370): Show TTATATAATATATAATATATATATTATTATATATATAATAATATATATAT AATATATAATTATACATAATATATAATATATAATTATAATATATAATATA TATTATATATTAATATATAATATATAAATAATAATATATAATATATAATT ATATATTATATAATAATATATAATAATATATAATATAATAATATATAATA ATATATAATATATAATTATATATTATATAATAATATATAATTATATATAA TATATAATTATATATTATATAATAACATATAATTATATATAATATATAAA AATATATAATATATAAATATATAATATATAAATATATATAATATATAATT ATATATAATATATAAATATATATAATAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0150 a0002c0002t0002g0150	1	316	0.0032	377	c.622 others(392): Show c.622-625_622-624insATATATAATATATATATTATTATATATATA ATAATATATATATAATATATAATTATACATAATATATAATATATAATTAT AATATATAATATATATTATATATTAATATATAATATATAAATAATAATAT ATAATATATAATTATATATTATATAATAATATATAATAATATATAATATA ATAATATATAATAATATATAATATATAATTATATATTATATAATAATATA TAATTATATATAATATATAATTATATATTATATAATAACATATAATTATA TATAATATATAAAAATATATAATATATAAATATATAATATATAAATATAT ATAATATATAATTATATATAATATATAAATATATATAATAGTATATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRC23_chr12_6899822_6919229	6909274	T T	TATATATA others(370): Show TATATATAATTATATATAATATATAATTATATATTATATCTAATTATATA TAATATATATATTATATATATAATAATATATATACAATATATAATTATAT ATTATATAATTATATATAATATATAATTATATATTATATATAATATATAA TTATATATTATATAATAATATATAATTATATATTATATATAATATATAAT TATATATTATATAATAATATATAATTATTAATATATAATTATATATAATA TATAATTATATATTATATAATAATATATAATTATATATTATATATAATTA TATATTATATAATAACATATAATTATATATAATATATAAATATATAATAT ATAAATATATAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA18944.hp2 NA21309.hp2 HG02647.hp1 NA18944.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0085 a0001c0001t0001g0112 a0001c0001t0001g0063 a0001c0001t0001g0085 a0001c0001t0001g0112	3	316	0.0095	377	c.622 others(392): Show c.622-596_622-595insTATAATTATATATTATATCTAATTATATAT AATATATATATTATATATATAATAATATATATACAATATATAATTATATA TTATATAATTATATATAATATATAATTATATATTATATATAATATATAAT TATATATTATATAATAATATATAATTATATATTATATATAATATATAATT ATATATTATATAATAATATATAATTATTAATATATAATTATATATAATAT ATAATTATATATTATATAATAATATATAATTATATATTATATATAATTAT ATATTATATAATAACATATAATTATATATAATATATAAATATATAATATA TAAATATATAATATATAAATATATATAATATATAATTATATATAATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCGCCCC others(370): Show ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG AGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGG GGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGG GGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCTGGCGGGGGGCTGACCCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG03041.hp1 HG03130.hp2 others(1): Show HG01069.hp2 HG03041.hp1 HG03130.hp2 HG03579.hp1	a0010 a0010	a0010c0014 a0010c0048 a0010c0014 a0010c0048	a0010c0014t0001 a0010c0014t0009 a0010c0014t0010 others(1): Show a0010c0014t0001 a0010c0014t0009 a0010c0014t0010 a0010c0048t0001	a0010c0014t0001g0190 a0010c0014t0009g0192 a0010c0014t0010g0225 others(1): Show a0010c0014t0001g0190 a0010c0014t0009g0192 a0010c0014t0010g0225 a0010c0048t0001g0189	4	246	0.0163	377	c.171 others(394): Show c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCC CCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCC CCACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar

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