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
LUC7L_chr16_183990_234449	186034	AGGAATAC others(673): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01255.hp2 HG02293.hp2 others(4): Show HG01123.hp2 HG01255.hp2 HG02293.hp2 HG02630.hp1 NA18953.hp1 NA19006.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0145 a0001c0001t0001g0201 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0145 a0001c0001t0001g0201 a0001c0001t0001g0215 a0001c0001t0001g0224 a0001c0001t0001g0234 a0001c0001t0001g0235	7	279	0.0251	-680	c.24 others(11): Show c.2484_*3163del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2955		chr16	TogoVar
LUC7L_chr16_183990_234449	186578	GGGAACAG others(673): Show GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAATACCAACACGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	320	0.0031	-680	c.19 others(11): Show c.1940_*2619del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2411		chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88728508	GCTGAACC others(673): Show GCTGAACCCACAGCCCCATCTGCCACAGAGGGAACCTCGCGACCCAAAAA CAAAGTGACCCTCGATGTTGGGGAACCCAGGACATGCTGATCTCACAGCC CCATCTGCCACAGAGGGAACCTCGCGACACAAAAACAAAGTGACCCTCGA TGCTGGGGAACCCAGGACATTCTGAACTCACAGCCCCATCTGCCACAGAG GGAACCTCGCGACACAAAAACAAAGTGACCCTCCATGCTGGGGAACCCAG GACATGCTGAACTCACAGCCCCATCTGCCACAGAGGGAACCTCGCGACAC AAAAACAAAGTGACCCTCCATGCTGGGGAACCCAGGACATGCTGAACTCA CAGCCCCATCTGCCACAGAGGGAACCTTGCGACACAAAAACAAAGTGACC CTCCATGCTGGGGAACCCAGGACATGCTGAACTCACAGCCCCATCTGCCA CAGAGGGAACCTCGCGACCCAAAAACAAAGTGACCCTCGATGTTGGGGAA CCCAGGACATGCTGAACCCACAGCCCCATCTGCCACAGAGGGAACCTCGT GACCCAAAAACAAAGTGACCCTCGATGCTGGGGAACCCAGGACATGCTGA ACCCACAGCCCCATCTGCCACAGAGGGAACCTCGCGACCCAAAAACAAAG TGACCCTCGATGCTGGGGAACCCAGGACATT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG01106.hp1 others(4): Show HG00140.hp1 HG00323.hp1 HG01106.hp1 HG01261.hp1 HG02155.hp2 HG02559.hp1 HG02683.hp2	a0003 a0007 a0003 a0007	a0003c0082 a0007c0008 a0007c0079 a0003c0082 a0007c0008 a0007c0079	a0003c0082t0002 a0007c0008t0004 a0007c0079t0004 a0003c0082t0002 a0007c0008t0004 a0007c0079t0004	a0003c0082t0002g0161 a0007c0008t0004g0162 a0007c0008t0004g0163 others(4): Show a0003c0082t0002g0161 a0007c0008t0004g0162 a0007c0008t0004g0163 a0007c0008t0004g0165 a0007c0008t0004g0224 a0007c0008t0004g0267 a0007c0079t0004g0166	7	280	0.0250	-680	c.319 others(18): Show c.3197-1527_3197-848del	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	22/50			chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88728826	CATGCTGG others(673): Show CATGCTGGGGAACCCAGGACATGCTGAACTCACAGCCCCATCTGCCACAG AGGGAACCTTGCGACACAAAAACAAAGTGACCCTCCATGCTGGGGAACCC AGGACATGCTGAACTCACAGCCCCATCTGCCACAGAGGGAACCTCGCGAC CCAAAAACAAAGTGACCCTCGATGTTGGGGAACCCAGGACATGCTGAACC CACAGCCCCATCTGCCACAGAGGGAACCTCGTGACCCAAAAACAAAGTGA CCCTCGATGCTGGGGAACCCAGGACATGCTGAACCCACAGCCCCATCTGC CACAGAGGGAACCTCGCGACCCAAAAACAAAGTGACCCTCGATGCTGGGG AACCCAGGACATTCTGAACCCACAGCCCCATCTGCCACAGAGGGAACCTC GCGACCCAAAAACAAAGTGACCCTCGATGCTGGGGAACCCAGGACATGCT GAACCCACAGCCCCATCTGCCACAGAGGGAACCTCGCGACCCAAAAACAA AGTGACCCTCGATGCTGGGGAACCCAGGACATGCTGAACCCACAGCCCCA TCTGCCACAGAGGGAACCTCGCGACCCAAAAACAAAGTGACCCTCGATGT TGGGGAACCCAGGACATGCTGATCTCACAGCCCCATCTGCCACAGAGGGA ACCTCGCGACACAAAAACAAAGTGACCCTCG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0039 a0039	a0039c0118 a0039c0118	a0039c0118t0001 a0039c0118t0001	a0039c0118t0001g0141 a0039c0118t0001g0141	1	187	0.0053	-680	c.319 others(19): Show c.3197-1845_3197-1166del	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	22/50			chr16	TogoVar
SNTG2_chr2_945849_1372613	1094194	AAAGGCCT others(673): Show AAAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCCA GCTTCCTGGCCTGCAGGCAAAGGCCTTATAGGTGTGTCCTCATATGGTAG AGTTACTGGCAAGGGCCGGCTTCCTGGACTGCAGGCGAAGGCCTTATAGG TGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCTGGCTTCCTGGACTGC AGGCGAAGGCCTTGTAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGG GCCAGCTTCCTGGCCTGCAGGCAAAGGCCTTATAGGTGTGTCCTCATATG GTAGAGTTACTGGCAAGGGCTGGCTTCCTGGACTGCAGGCGAAGGCCTTA TAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCCGGCTTCCTGGA CTGCAGGCGAAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGC AAGGGCTGGCTTCCTGGACTGCAGGCGAAGGCCTTATAGGTGTGTCCTCA TATGGTAGAGTTACTGGCAAGGGCTGGCTTCCTGGACTGCAGGCGAAGGC CTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCCAGCTTAC TGGCCTGCAGGCAAAGGCCTTATAGGTGTGTCCTCATGTGGTAGAGTTAC TGGCAAGGGCTGGCTTCCTGGGCTGCAGGCG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG02572.hp2 others(3): Show HG01891.hp1 HG02451.hp2 HG02572.hp2 HG02717.hp2 HG02976.hp1 HG03209.hp2	a0004 a0009 a0010 others(1): Show a0004 a0009 a0010 a0015	a0004c0004 a0009c0012 a0010c0029 others(1): Show a0004c0004 a0009c0012 a0010c0029 a0015c0025	a0004c0004t0001 a0004c0004t0002 a0009c0012t0001 others(2): Show a0004c0004t0001 a0004c0004t0002 a0009c0012t0001 a0010c0029t0001 a0015c0025t0001	a0004c0004t0001g0047 a0004c0004t0001g0088 a0004c0004t0002g0074 others(3): Show a0004c0004t0001g0047 a0004c0004t0001g0088 a0004c0004t0002g0074 a0009c0012t0001g0146 a0010c0029t0001g0152 a0015c0025t0001g0034	6	179	0.0335	-680	c.211 others(17): Show c.211-3954_211-3275del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1345083	TTTTCCCC others(673): Show TTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAG CTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAG AGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTG TAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGG ACATGCATAGGAAGAGTGGACTGGCACTTTCCCCCTGTTCTGGGCACGCC TGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAA TTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCT GTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTC ACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTG GCACTTTTCCCCCTGTTGTGGGCACGCCTGGCCCAGCTCTGTAGGACAGC GGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATA GGAAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGC TCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAG CAGGACATGCATAGGAAGAGTGGACTGGCAC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0086 a0005c0006t0001g0086	1	188	0.0053	-680	c.148 others(21): Show c.1489-22252_1489-21573del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TEK_chr9_27104225_27235174	27138545	GACCCAGG others(673): Show GACCCAGGAAGTCCAGCTGGCTTCACCTCTCACTTTTAAAACTGTTGAGC AGAGTTCTTGATTTATTTATATTCAGTAGTAAGCAAAGTATTTGAAACTA TACCTGACACTTGAATAACACAAGTTTGAGCTTCATGGGCCCACTTACAC CCAGCTGTTTTTCAATCACAGATGGAAAATACAGTATTCACAGGATCTGA AACTCACATAAACAGATGGGTCCAACTTTTCGTATATGCGTGTTACTAGA GTGGAGTACAGGAATTGAGTATGTGTGAATTTGGTTGTACACAAGTGGTC CTGGAACCAATCCCCTGTGTGTACCAAGGAACAGCTATGTAATGTTTTAG ATTCACTGTAGCAGTTTTGAAAGTAGGATTCTTAGATGGGCACGGTGGCT CAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAG GTCAGGAGATCAAGACCATCCTGGCTAACCTGGTGAAATCCATGTCTACT AAAAACACAAAAAAATTAGTTGGGCATGGTGGTGGGCGTCTGTAGTCCCA GCTACTCCGGAGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGC GGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCTGTCTCAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0013 a0003c0020t0013	a0003c0020t0013g0041 a0003c0020t0013g0041	1	338	0.0030	-680	c.53- others(17): Show c.53-19285_53-18606del	TEK	ENSG00000120156.22	transcript	ENST00000380036.10	protein_coding	1/22			chr9	TogoVar
TMEM132D_chr12_129066726_129909025	129088815	GGGTGTCC others(673): Show GGGTGTCCTCCATGACCGGGATGTCCTCCATGACCGGGTGTCCTCCATGA CCGGGTGTCCTCTATGACCGGGTGTCCTCCCTGACCGGGTGTCCTCCATG ACCGGGATGTCCTCCATGACCGGGTGTCCTCCATGACCGGGTGTCCTCCC TGACCGGGATGTCCTCCATGACCGGGGTGTCCTCTATGACCGGGATGTCC TCCATGACCGGGTGTCCTCCCTGACCGGGATGTCCTCCATGACCGGGGTG TCCTCTATGACCGGGATGTCCTCCATGACCGGGGTGTCCTCCATGACCGG GGTGTCCTCTATGACCGGGTGTCCTCTATGACCGGGTGTCCTCCCTGACC GGGTGTCCTCCATGACCGGGATGTCCTCCATGACCGGGTGTCCTCTATGA CCGGGTGTCCTCTATGACCGGGTGTCCTCCCTGACCGGGTGTCCTCCATG ACCGGGATGTCCTCCATGACCGGGTGTCCTCTATGACCGGGTGTCCTCCA TGACCGGGTGTCCTCCCTGACCGGGATGTCCTCCATGACCGGGGTGTCCT CTATGACCGGGATGTCCTCCATGACCGGGTGTCCTCCCTGACCGGGATGT CCTCCATGACCGGGGTGTCCTCCATGACCGGGGTGTCCTCTATGACCGGG TGTCCTCCATGACCGGGTGTCCTCCATGACC	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0062 a0002c0003t0001g0062	1	86	0.0116	-680	c.144 others(19): Show c.1444-4793_1444-4114del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
DENND1A_chr9_123374658_123935126	123854725	ATGAAATA others(672): Show ATGAAATAAAAAATGAAGCAACTGATTTAATCAATTTAAGCAAATGGTTA CCAGTTCACATGAAGTTTCTCTCTCCTCTTCTGTCTCTTGGTCGAATATA TCTTCATCTTATCAGCTACCGAGATAGTACCAGACATTGCCACAACCTAC TGCATGCAAAGTGGTAATAAATGCAGTGGAAGGGAAATAGAAGATAATGA ACCGATCCTTCATATACTCTAAATCTCTTTTCTACCTTGCTAAGAAAAAC AAGATAAGTCCCTGGAGATACTCTAGAAGTAAATGTAACCATAGGTAAAA CTCCACTCTAAAAAACACAATTATAATGTCCAGTTCTATGTAAATGGAGC TATTTCAAAAGCCTCACAAACAACTGATACTAACATTGCCTTGCTTATTT GGACATAACAAATTCCACTGAATGAGATATTTTTAAATATCTCTTCATTT AGCTAGCTACCTACTGAATACGATTATTCTTCAAGGGAGAATTCAAGCAA GAAGGTTCCTGCCCTCAAGAAAAACAGAAAAGACAATTATAATACGATAT GCAGGGTGCCAAGAGGGAGGGTATCTAACCAAGTCTGTGAAGGATGGCAG AGAGGGGGAAGCAAGGGTAGACAGAAAAAAATGGAGGATTAGAGAAGGCC TCCTAAAAGAGGTGGCACCTTGTCTAAGTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp1 HG02723.hp1 others(3): Show HG01891.hp1 HG02615.hp1 HG02723.hp1 HG03453.hp2 NA19043.hp2 NA20129.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0012 a0006c0020 a0001c0001 a0001c0012 a0006c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0012t0007 a0006c0020t0006	a0001c0001t0001g0077 a0001c0001t0001g0137 a0001c0001t0002g0078 others(3): Show a0001c0001t0001g0077 a0001c0001t0001g0137 a0001c0001t0002g0078 a0001c0001t0006g0142 a0001c0012t0007g0141 a0006c0020t0006g0140	6	158	0.0380	-679	c.88+ others(17): Show c.88+23547_88+24225del	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	2/23			chr9	TogoVar
IDI1_chr10_1034419_1054119	1046891	CTGTCTAC others(672): Show CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCAC ACAGCCCAGCTGCTCCACTGTCTGGTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19012.hp2 HG02572.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0003 a0001c0001t0005g0033 a0001c0001t0003g0003 a0001c0001t0005g0033	2	436	0.0046	-679	c.140 others(17): Show c.140+1294_140+1972del	IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding	1/4			chr10	TogoVar
NCAPG2_chr7_158626169_158709804	158667304	CCCTTAGC others(672): Show CCCTTAGCCGCTACTGTGTCCCTCCGCTACTGTGTCCCTCCGCTCCTTAG CCACTACCGGATCCCTCCGCCCCCCCTTACCCACTACTGGGTCCCTCCGC CCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGT CCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCAC TACTGGGTCCCTCCGCCCTCCTTACCTACCCTGTGGCCCTCCACCCGCTT ACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCC GCCCTCCTTACCTACCCTGTGGCCCTCCACCCTCTTACCCACTACTGGGT CCCTCCGCCTTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCAC TACTGGGTCCCTCCGCCCTCCTTACCTACCCTGTGGCCCTCCGCCCTCCC TTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCT CCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTAC TGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTA CCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTCTGGCCCTCCACC CTCTTACCCACTACTGGGTCCCTCCGCCTT	C C	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	355	0.0028	-679	c.148 others(19): Show c.1480-3233_1480-2555del	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667320	TGTCCCTC others(672): Show TGTCCCTCCGCTACTGTGTCCCTCCGCTCCTTAGCCACTACCGGATCCCT CCGCCCCCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTAC TGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTA CCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGC CCTCCTTACCTACCCTGTGGCCCTCCACCCGCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACC CTGTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCTTCCTTA CCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGC CCTCCTTACCTACCCTGTGGCCCTCCGCCCTCCCTTACCCACTACTGGGT CCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCA CTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCT CCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCC TCCGCCCTCCTTACCTACCCTCTGGCCCTCCACCCTCTTACCCACTACTG GGTCCCTCCGCCTTCCTTACCCACTACTGG	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	129	0.0078	-679	c.148 others(19): Show c.1480-3249_1480-2571del	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
ROR2_chr9_91717601_91955228	91797053	TGGCTCTG others(672): Show TGGCTCTGTGGGCGGGGCTGACACCCTGGGATCTGTGGATAGGGCTGACA CCCTGGGCTCTGTGGGTGGGGCTGACACCCTGGGCTCTGTGGGTGGGGAA TGACACACTGGGCTTTGTGGGAGAGGCTGACACCCTGGGCTAGTGGGTAG AGTTGACACCATGGGGTCTGTTAGTGGGGAATGACACCCTGGGCTCTGTG GGTGGGGCTGACACCCTGCATTCTGTGGGCAGGGCTGACACCCTGGGCTC TGTGGGTGGGGAATGACACCCTGGGATCTGTGGGTGGGGCTGACACCCTG GGCTCTGTGGGTGGGGCTGACACCCTGGGATCTGTGGATAGGGCTGACAC CCTGGGCTCTGTGGGTGGGGCTGACACCCTGGGCTCTGTGGGTGGGGAAT GACACACTGGGCTCTGTGGGCGAGGCTGACACCCTGGGCTAGTGGGTGGA GTTGACACCATGGGGTCTGTTAGTGGGGAATGACACCCTGGGCTCTGTGG GTGGGGCTGACACCCTGCATTCTGTGGGCGGGGCTGACACCCTAGGCTCT GTGGGTGGGGAATGACACCCTGGGATCTGTGGGTGGGGCTGACACCCTGG GCTCTGTGGGTGGGGCTGACACCCTGGGATCTGTGGATAGGGCTGACACC CTGGGCTCTGTGGGTGGGGCTGACACCCTG	T T	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0085 a0002c0007t0001g0085	1	224	0.0045	-679	c.98- others(17): Show c.98-21914_98-21236del	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
TMEM40_chr3_12728528_12764259	12729690	CCTATAAT others(672): Show CCTATAATCCCAGCACTTTGAGAGGCCAAGGTGGGCGGATCACTTGAGGT CAAGACTTCAAGATTAGCCTGGTCAATATGGTGAAATCCTGTCTCTACTA AAAAAAAAAAAAAAAAAAAAAAAAAATTCCAGGTATGGTGGCAGGTGCCT GTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCCCTCAAGTCTGG GAGGCAGAGGTTGCAATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGT GAGACTCCATCTCAAAAAAAAAAAAAAGTGGCCGGGCATGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCA GGAGATCGAGACCATCCTGGCTAACAGGGTGAAACCCCATCTCTACTAAA ACTGCAAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAGTCCCAGCTA CCCAGGAAGCTGAGGCAGGAGAATCGCTTGAACCTGCGAGGCGGAGGTTG CAGTGAGCCGAGATGGGGCCATTGCACTACAGCCTGGGCGACAGAGCAAA ACTCTGTCTCAAAAAAAAAAAAAAGTGGTAAAATAGACATAAAATTAACC ACCATAACCATTTTTAAGTGTACAGTTCAGTGGCGTTAAATACTTTCACA GTGTTGTGCAATTATCACAACCATCCATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02647.hp2 HG02895.hp1 others(4): Show HG01081.hp1 HG02647.hp2 HG02895.hp1 HG02897.hp1 HG03486.hp2 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 others(4): Show a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217	7	342	0.0205	-679	c.44 others(11): Show c.4405_*5083del	TMEM40	ENSG00000088726.16	transcript	ENST00000314124.12	protein_coding		3837		chr3	TogoVar
VAV2_chr9_133756894_133997324	133827437	CTGAGTGG others(672): Show CTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACT GAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGA GCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGC ACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGG GGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGG GCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGC ATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCAT CACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCA CCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCC AGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCAC CTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCT ACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTAC CGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTG CTGTGCCCACTGGGGCTGACCACTGAGCGG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00140.hp2 HG00544.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0020 a0002c0001 a0003c0020	a0002c0001t0001 a0003c0020t0006 a0002c0001t0001 a0003c0020t0006	a0002c0001t0001g0065 a0003c0020t0006g0047 a0002c0001t0001g0065 a0003c0020t0006g0047	2	173	0.0116	-679	c.449 others(17): Show c.449+6156_449+6834del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827629	CTGAGTGG others(672): Show CTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACT GAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGA GCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGC ACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGG GGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGG GCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGC ATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCAT CACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCA CCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCC AGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCAC CTACCGCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCT ACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTAC CGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCG CTGCGCCCACTGGGGCTGACCACTGAGTGG	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0091 a0001c0002t0002g0091	1	184	0.0054	-679	c.449 others(17): Show c.449+5964_449+6642del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
ZNF516_chr18_76352682_76500242	76393789	GGGGAAGG others(672): Show GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAG CCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGG GAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGG GCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAA GGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTG GTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCA GGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0158 a0001c0012t0158	a0001c0012t0158g0117 a0001c0012t0158g0117	1	337	0.0030	-679	c.181 others(21): Show c.1811-14165_1811-13487del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
CYP4F11_chr19_15907377_15939529	15931087	AAGGGAGT others(671): Show AAGGGAGTGGCCAACTTTTATTCAGGCAGGTAACAAGGCCGACTGGGACA TGTTAGTGAGGAAGAGCAAGATAGGAGGAAGGTGCCTCCAGAAAAGGAGG CAGCGGGAGACTGCCCACACTTCTCTTCTGGACCCTCTGTGTCCCTGCGT ATGGAAAGGGGCTCAGAGCTAATTCCTGTGAGAAAGCAGCAGCACAGAGA TGGGCAGACACAAGCAAATGGGCCAGGCAGGGAGTAGTCCCTGGACAGTA GACTCAGGAGGCCTCAAGTCCAGCAGTGGAGAAGGTGCAAATGCCAGGAG ATCTTTGCTCTGTGCACCCATACCACTCCCACAGGAGACCCTCAGAGGTG CAGTAACACAGGGAAGACAGGCAGGAAAAAGATCCAAGCAGGCTGGAGTG GGAGGACAGGGAGGTGAGAAAGACTTGGGATGGCACATCAGAGGAATGAG TGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGA GAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAG TGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGA GAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAG TGAGTGAGGAGAGGAATGAGTGAGTGAGG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0053 a0003c0003t0053	a0003c0003t0053g0072 a0003c0003t0053g0072	1	382	0.0026	-678	c.199 others(17): Show c.199-2164_199-1487del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DIP2C_chr10_269201_694668	321775	GCGGGGCT others(671): Show GCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTG CGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGC GGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCG GGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGG GGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGG GCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGG CTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGC TCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCT CCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTC CGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCC GGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCG GCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGG CGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGC GAGAGACCGGCGCTGTTAGAACAGTCAGT	G G	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0066 a0001c0002t0003g0066	1	83	0.0120	-678	c.392 others(19): Show c.3924+4553_3924+5230del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
RNASE10_chr14_20500537_20518884	20506313	GGGGGGGT others(671): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGTCCCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCTATCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCAGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCAGTCCAGGAGGGA GGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTG GCCAGCCGCCCCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGT	G G	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA19000.hp1 NA19010.hp2 others(3): Show NA18959.hp2 NA19000.hp1 NA19010.hp2 NA19012.hp1 NA19065.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	6	394	0.0152	-678	c.-6+ others(13): Show c.-6+300_-6+977del	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
TPO_chr2_1408463_1548673	1532028	CCCCTCAC others(671): Show CCCCTCACTGTGTGCAACCTCCCCAAATACCCCCCACTGTGTGCACCTTC CTCAAGTCCCCCACTGTGTGCAACCCCCACAAATCCCCCCACTGTGCGCA ACCTCCTCTAATCCCCTCACTGTGTGCAACCTACACAAATGCCCCCCACA GTGCGCAACCTCCTCAAATCCCCCACCACTGTGAGCAACCTCCTCAAATC CCCCCACTGCCTGCAACCTCCTCAAATCCCCCCACTGTGTGCAACCTCCT CAAGTCCCCCACTGTGTGCAACCCCCACAAAACTCCCACTGTGCGCAACC TCCTCTAATCCCCTGTGTGCAACCTCCACAAATACCCCCCACAGTGCGCA ACCTCCTCAAATCCCCCACCACTGTGAGCAACCTCCCCAAATCCCCCCAC TGTGAGTAACCTCCTGCAATTGCCCCGCACTGTGCAACCTCCTCAAATCC CCCCCACAGTGCAAAACCTCCTCAAAACCCCCGCCACTCTGAGCAACCTC CTCAAATACCCCACTGTCAGCAACCTCCTCAAATCCCCCCAACTGTGTGC GACCTCCCCAAATCCCCCCCACAGTGTGCAATCTCCACAAATCCCCCCCC ACTCTGTACAACCTCCCCAAACCCCCCCAACTGTGTACAACTTCCTCACA ACCACCCACTCTGTGCAACCTCCCCAAAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(86): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01192.hp1 HG01934.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03654.hp1 HG03654.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18971.hp2 NA18985.hp1 NA18985.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19058.hp2 NA19088.hp2 NA19240.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0017 a0018 a0019 a0020	a0001c0001 a0001c0004 a0002c0002 others(24): Show a0001c0001 a0001c0004 a0002c0002 a0002c0015 a0003c0003 a0003c0006 a0003c0018 a0004c0005 a0005c0008 a0005c0014 a0006c0020 a0006c0022 a0006c0027 a0007c0009 a0007c0013 a0009c0012 a0009c0034 a0010c0010 a0011c0025 a0012c0033 a0013c0023 a0014c0029 a0015c0035 a0017c0031 a0018c0019 a0019c0017 a0020c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0004t0001 a0001c0004t0009 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0013 a0002c0015t0004 a0003c0003t0001 a0003c0003t0004 a0003c0003t0005 a0003c0006t0004 a0003c0006t0011 a0003c0018t0002 a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 a0004c0005t0007 a0005c0008t0001 a0005c0008t0002 a0005c0014t0001 a0006c0020t0004 a0006c0022t0002 a0006c0027t0002 a0007c0009t0001 a0007c0009t0003 a0007c0009t0006 a0007c0013t0007 a0009c0012t0002 a0009c0012t0006 a0009c0034t0003 a0010c0010t0002 a0010c0010t0007 a0011c0025t0002 a0012c0033t0001 a0013c0023t0001 a0014c0029t0001 a0015c0035t0002 a0017c0031t0001 a0018c0019t0004 a0019c0017t0002 a0020c0024t0005	a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0031 others(84): Show a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0084 a0001c0001t0001g0117 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0087 a0001c0001t0007g0014 a0001c0001t0010g0054 a0001c0004t0001g0073 a0001c0004t0001g0074 a0001c0004t0001g0091 a0001c0004t0001g0106 a0001c0004t0001g0109 a0001c0004t0001g0113 a0001c0004t0001g0114 a0001c0004t0009g0102 a0002c0002t0001g0006 a0002c0002t0002g0004 a0002c0002t0003g0011 a0002c0002t0003g0053 a0002c0002t0007g0119 a0002c0002t0013g0121 a0002c0015t0004g0112 a0003c0003t0001g0010 a0003c0003t0001g0045 a0003c0003t0004g0012 a0003c0003t0004g0034 a0003c0003t0004g0050 a0003c0003t0005g0001 a0003c0006t0004g0097 a0003c0006t0004g0103 a0003c0006t0011g0090 a0003c0018t0002g0005 a0004c0005t0001g0019 a0004c0005t0001g0079 a0004c0005t0002g0088 a0004c0005t0003g0017 a0004c0005t0007g0080 a0005c0008t0001g0093 a0005c0008t0002g0068 a0005c0008t0002g0070 a0005c0014t0001g0002 a0006c0020t0004g0018 a0006c0022t0002g0033 a0006c0027t0002g0111 a0007c0009t0001g0123 a0007c0009t0003g0051 a0007c0009t0006g0089 a0007c0013t0007g0118 a0009c0012t0002g0126 a0009c0012t0006g0124 a0009c0012t0006g0125 a0009c0034t0003g0120 a0010c0010t0002g0024 a0010c0010t0002g0067 a0010c0010t0007g0086 a0011c0025t0002g0044 a0012c0033t0001g0098 a0013c0023t0001g0016 a0014c0029t0001g0096 a0015c0035t0002g0105 a0017c0031t0001g0104 a0018c0019t0004g0007 a0019c0017t0002g0023 a0020c0024t0005g0009	89	128	0.6953	-678	c.261 others(19): Show c.2619-8562_2619-7885del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CACNA1H_chr16_1148106_1226768	1191194	CTTACTCA others(670): Show CTTACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTC TCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGT CTCTCTTACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCCGGCACACTCGG GGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCG GGGTTTCGGTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACAC TCAGGGTTTTGGTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCA CACTTGGGGTCTCTGACCCAGTAGGCTGGCCTGGCTGTGTGGCCTCAGGC ACACTCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGG CACACTCGGGGTTTCGGTGACCCAGCAGGCTGGCCTGGTTGTGTGGCCTC AGGCACACTCAGGGTTTTGGTGACCCAGCAGGCTGGCCTGGCTGTGTGGC CTCAGGCACACTCGGGGTCTCTGACCCAGTAGGCTGGCCTGGCTGTGTGG CCTCAGGCACACTCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTG GCCTCAGGCACACTCGGGGTTTCGGTGACCCAGCAGGCTGGCCTGGTTGT GTGGCCTCAGGCACACTCAGGGTTTTGG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0135 a0002c0135	a0002c0135t0040 a0002c0135t0040	a0002c0135t0040g0282 a0002c0135t0040g0282	1	329	0.0030	-677	c.300 others(17): Show c.300-3776_300-3100del	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAJC13_chr3_132412502_132544032	132470714	GGCTCCTC others(670): Show GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCC TGGACAGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCC GGACAGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGG AGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGG GGGCTTACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGG GGGCTGACCCCCCCATCTCCCTCCTGGACGGGGTGGCTGGCCCGGCTGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGATGGCACGGCTGGCCGGTCGGGGGGGCTGACCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCCCACCTCCCTC CCGGACGGGGTGGCTGCCGGGCGGAGAT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	316	0.0032	-677	c.220 others(19): Show c.2209-2414_2209-1738del	DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	20/55		INFO_REALIGN_3_PRIME	chr3	TogoVar
GNA12_chr7_2723105_2849308	2848631	GAGACCAG others(670): Show GAGACCAGCCAGGTCAACATGGTGAAACCTTCTCTCTACTAAAAATACAA AAATTAGCTGGGTGTGGAGGCACGTGCTACTTGGGAGACTGAGGCAGGAG AATCGCTTGAATCCAGGAGGCAGGGGTTACAGTGAACTGATATCGCACCA CTGCACTCCAGCCTGGGCAACAGAGCGAGACTGTCTCAAAAAACAAACAA AATAACATATTATTCCTAAAAAGAATATGCAAGACTAAAATGTGTAAATA GATGGCCCACAGACATGCTTTCTTGGTCTACCAGCTGTTAAAAAAAATTG GTAGAGAGTAGGAGGAATAGACTGAATGTTCCTCCCAACTTGTATTCAGT TCCACCTCTGGAGCTAAGGAGAAGCCAGGAAGGGGGAGTCCGACAGCAGG GCCTGAAACCTTCATGTGACACGGTAAGCTCACCTGAAATCTCTAGGAAA GGAAGCAGCCACAGGGACTCTCACTCTCCAGTGGGCCAGCAGTGAGGGGA TCAGGAACTCAGAGGCCTGGTATAGGGCCCAAGACGCTGGGATTCCCAAT AGGAACAGGATCCCCTTAGGTCCCATGCATGCAGTCTCCTTTTGAGGTCC TAGTAGGGCCTTTCTGGCCTGGGGAGAATGTGGGTGATATGGTTTGGCTG TGTCCCCACCCAAATCTCATCTTTAATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0297 a0001c0001t0034g0297	1	320	0.0031	-677	c.-51 others(11): Show c.-5147_-4471del	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding		4324		chr7	TogoVar
OTUD7A_chr15_31470398_31875673	31510655	AACATACA others(670): Show AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATATATGTATATCTATATGTAACATATATGTATATCTATATGTAACA TATATGTATATCTATATGTAACATATATGTATATCTATATGTAACATATA TGTATATCTATATGTAACATATGTATATCTATATGTAACATATGTATATC TATATGTAACATACATGTATATCTATATGTAACATACATGTATATCTATA TGTAACATACATATATATGTATATCTATATGTAACATACATATGTATATC TATATGTAACATACATATGTATATCTATATGTAACATACATATGTATATC TATATGTAACATACATATGTATATCTATATGTAACACACATATGTATATC TATATGTAACACACATACATATGTATATCTATATGTAACACACATACATA TGTATATCTATATGTAACACACATACATATGTATATCTATATGTAACACA CATATATATGTATATCTATATGTAACAC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01517.hp2 HG01952.hp2 others(2): Show HG01261.hp2 HG01517.hp2 HG01952.hp2 HG02132.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0072 a0001c0001t0005 a0001c0001t0006 a0001c0001t0072	a0001c0001t0005g0032 a0001c0001t0005g0114 a0001c0001t0005g0151 others(2): Show a0001c0001t0005g0032 a0001c0001t0005g0114 a0001c0001t0005g0151 a0001c0001t0006g0099 a0001c0001t0072g0147	5	234	0.0214	-677	c.894 others(17): Show c.894-7514_894-6838del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
SUPT6H_chr17_28657205_28707679	28692261	CTGCAGTG others(670): Show CTGCAGTGAGCCGAGATTGCACCACTGTACTCCAGCCTGGGCGACAGCGA GACTCTGTCTCAAAAAAAAAAAAAAAGTGGGGAGGGGCCAGGCCGGGCAC AGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCTGAGGCAGTTGGA TCACCTGAGGTCAGGAGTTCCAGACCAGCCTGACCAACATGATGAAACCC CATCTCTACTAAAAATATAAGGATTAGCAGGGTGTGGTGGTGAGACTCCT ATCTCAAAAAAAAACACAAAAGGGAGGGGCCTCAGTTGCAGCTAAAGGGA TCTAAGTTGGATAAACATAAAAGAGGATGGGGCACAGTCACACCAGTAAT CCCAGCACTTTCAGGGGCCGAGGCAGGTGGAGTGCTTGCCCAGGAGTTCA AGACCAACCTGAGCAACATGGCAAAACCCTATCTCTACAAAATAAAATTA GCCAGGCTTAACCGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTG GGAGGCCAAGGTAGGTGGATCACGAGGTCAGGAGATCGAGGCCATCCTGG CTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGG CATGGTGGCGGGCGCTTGTAGTCCCAGCTACTCGGGAGGCAGAGGCAGGA GAATGGCGTGAACCCGGGAGGCAGAGCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00609.hp2 others(46): Show HG00140.hp2 HG00408.hp1 HG00609.hp2 HG00735.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01433.hp1 HG01496.hp2 HG01884.hp2 HG02015.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02293.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02922.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp2 HG04184.hp2 NA18612.hp1 NA18906.hp2 NA18941.hp1 NA18946.hp1 NA18955.hp2 NA18957.hp2 NA18969.hp1 NA18971.hp2 NA18973.hp1 NA18980.hp1 NA18982.hp1 NA19000.hp2 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19067.hp2 NA19240.hp1 NA20129.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0001c0006 a0001c0007 others(4): Show a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0003c0009 a0004c0010	a0001c0003t0001 a0001c0006t0001 a0001c0007t0001 others(4): Show a0001c0003t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0011t0001 a0003c0009t0001 a0004c0010t0001	a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0018 others(43): Show a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0038 a0001c0003t0001g0041 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0059 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0158 a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0166 a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0174 a0001c0003t0001g0175 a0001c0003t0001g0182 a0001c0003t0001g0188 a0001c0003t0001g0193 a0001c0003t0001g0195 a0001c0003t0001g0196 a0001c0006t0001g0165 a0001c0007t0001g0054 a0001c0008t0001g0169 a0001c0011t0001g0138 a0003c0009t0001g0183 a0004c0010t0001g0200	49	234	0.2094	-677	c.363 others(18): Show c.3633+1210_3634-747del	SUPT6H	ENSG00000109111.15	transcript	ENST00000314616.11	protein_coding	27/36		INFO_REALIGN_3_PRIME	chr17	TogoVar
WWOX_chr16_78094654_79217667	78137768	AGGTAGTG others(670): Show AGGTAGTGTGCAAAATTGTCAACAGATAATAAAAGTTTTTTGCAAAGCTA TGGCTCTATGTGCTGTACTTGAGCAGTATCCATACTCTTAATAGAATTGA TATATGAAAGCAGGTCTTTTTCCTTATCCGTTTAGACCTAAATCTTATCC ATAGTGTGTGGATATCACAAACAGCACAAGAGGAAGTGAAAGGAACAGAG TGGGTGAGCAAACCATTGTTCAAAGGAAACAGAACCTCGCTCAAGGAAAA TGAGAATTCTTCTGATCAGCTTCTATAATGGATGCAATGAGGAAAGTTGT CTAGCAGACTGTTCTTGGCCAACTGTCTAAATGGCTCGCTGCATCCTCTT CACGAGAGCTGATGGTAGGACTGTAGAAGAGTCACAAAACATCACATGAC AACGCCAGTCCCTCTGATAATCCTGCAAGAGCCAGCCCAGTTTTGCTGAC AGCACAGTCTGCTGTTTAATTATTGTGTGTTCAATGACTTACCTCTTTTT AGTTTAATTAAAATTATTTCTCAGATTAAGAGCCATGCTATGATGCTTGC CAACGGATATTTAAAACATGTAACTGATTTGTTTTTTATAATGCTTCAGG AGAACTCAGTTGAGCAGTAAAGATGTGCTCGTGATGTGGTTAGCTCAGAA TAAGGATGTGAAAACCAAAAGGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02559.hp1 HG02723.hp1 others(5): Show HG01074.hp1 HG02559.hp1 HG02723.hp1 HG02809.hp2 HG02922.hp2 HG03669.hp1 NA19030.hp1 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0002c0002 a0003c0004 others(2): Show a0001c0001 a0002c0002 a0003c0004 a0005c0003 a0006c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0017 a0002c0002t0001 a0003c0004t0001 a0005c0003t0019 a0006c0005t0002	a0001c0001t0001g0054 a0001c0001t0004g0004 a0001c0001t0010g0031 others(5): Show a0001c0001t0001g0054 a0001c0001t0004g0004 a0001c0001t0010g0031 a0001c0001t0017g0103 a0002c0002t0001g0010 a0003c0004t0001g0097 a0005c0003t0019g0011 a0006c0005t0002g0009	8	142	0.0563	-677	c.409 others(19): Show c.409+22615_409+23291del	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	4/8			chr16	TogoVar
DPH7_chr9_137549444_137583925	137565396	TCTGTCTG others(669): Show TCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGA AGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0309 a0001c0001t0002g0309	1	333	0.0030	-676	c.641 others(15): Show c.641-918_641-243del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566996	TGTGAGGA others(669): Show TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	329	0.0030	-676	c.641 others(17): Show c.641-2518_641-1843del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
FAM221A_chr7_23675199_23707650	23678595	GGAAGAGT others(669): Show GGAAGAGTCCACAATTGGGCTAAATCTATTTTAACCATTTCCCTCTAGAT TTTTAAATTGTACTTGCCTACACAGACATTCCCCTGCCACTTTTCTGTAA GCCTGCAGAGCCTGGCATTTTCTTCTATTTTTCTTTGTTAGTTCAGTTGC TGCCTAAAAGCAAGACTAGGCTCTCATAGAGGTAGAATGGGGCTGGGCGT GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAAA TCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATGGTGAAACCCTG TCTCTACTAAAAATACACACACACACACACACACAAAAGCCAGGCGTGGT GGCTAGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTG CTTGAACCTAGGAGGCAGAGATTGCAGTGAGTCGAGATCCCGCCACTGCA CTCCAGCCTTGGAGACGGAGCAAGACCCCATCTGGGAGGTGTCGGGTGGA AGAGGTAAAATGGACAGCAGCAAACCACACGTGTGATAGGAGAGAATACT GAGCTGAGATCAGTTTCCTAAAATATGAATCCGATTTCAGGATCACTCAT TTATCTGACTGTCAAGAACGCCTCTGAACAGGAGGAAGACTTTGGGGAGA GGGTGGGGTTTGTTGAAAGGGTACCGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02055.hp1 others(2): Show HG01069.hp2 HG01071.hp1 HG02055.hp1 HG03209.hp2 HG03225.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0069 a0003c0003t0002g0066 a0003c0003t0002g0067 others(2): Show a0003c0003t0001g0069 a0003c0003t0002g0066 a0003c0003t0002g0067 a0003c0003t0002g0068 a0003c0003t0002g0070	5	408	0.0123	-676	c.-16 others(10): Show c.-1623_-948del	FAM221A	ENSG00000188732.11	transcript	ENST00000344962.9	protein_coding		1603		chr7	TogoVar
LMF1_chr16_848634_975984	960852	GACACAGA others(669): Show GACACAGACTCACGGTGACAACACGGGATCACGACCCAGACAGACTCACG GTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGG GATCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCA GACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACG GTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGG GATCACGACCCAGACAGACTCACGGTGACAGCACGGGATCACGACCCAGA CAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGT GACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGA CAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGT GACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGA CACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACG GTGACAGCACGGGATCACGACCCAGAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG01993.hp2 others(6): Show HG00140.hp2 HG00423.hp1 HG01993.hp2 HG02027.hp1 HG02056.hp2 HG03831.hp1 HG03927.hp2 NA18612.hp2 NA18951.hp1	a0001 a0003 a0015 a0001 a0003 a0015	a0001c0002 a0003c0014 a0003c0015 others(1): Show a0001c0002 a0003c0014 a0003c0015 a0015c0031	a0001c0002t0001 a0003c0014t0001 a0003c0015t0001 others(1): Show a0001c0002t0001 a0003c0014t0001 a0003c0015t0001 a0015c0031t0001	a0001c0002t0001g0095 a0003c0014t0001g0009 a0003c0014t0001g0012 others(6): Show a0001c0002t0001g0095 a0003c0014t0001g0009 a0003c0014t0001g0012 a0003c0014t0001g0015 a0003c0014t0001g0016 a0003c0015t0001g0011 a0003c0015t0001g0013 a0003c0015t0001g0014 a0015c0031t0001g0010	9	270	0.0333	-676	c.194 others(17): Show c.194-6862_194-6187del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMLN_chr3_197955217_198048720	198004094	CATCTATC others(669): Show CATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTT GCCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGT TTGCCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAA GTTTGCCATCTATCTATATATCATCTATACAGATACATATCATACGTAGT AAGTTTGCCATCTATCTATATATCATCTATACAGATACATATCATACGTA GTAAGTTTGCCATCTATCTATATATCATCTATACAGATACATATCATACG TAGTAAGTTTGCCATCTATCTATATATCATCTATACAGATACATATCATA CGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGATACATATCA TACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGATACATAT CATACGTAGTAAGTTTGACATCTATATATCATCTATACAGATACATATCA TACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATAT CATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACAT ATCATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATAC ATATCATACGTAGTAAGTTTGACATCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0186 a0001c0001t0009g0186	1	256	0.0039	-676	c.131 others(18): Show c.1319+976_1319+1651del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LUC7L_chr16_183990_234449	186492	GGGGAACA others(669): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	334	0.0030	-676	c.20 others(11): Show c.2030_*2705del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2497		chr16	TogoVar
MARCHF11_chr5_16062139_16184791	16124699	AAAAGATG others(669): Show AAAAGATGCTATCTCAAGGAACTTTACTTCCATTCATGTCAGTGATACCT ACAGAGAGAATTCTTAGACATTCAGTCACCAATTCAGGACAATTAAAACC TCAAGATAAAATCTGAATTTGTATCATTAGTTTATATCTTGAACACAACA CACTTAGGGGCAAGATTCATAATTAACAATAGAATATGTAAATCCATACT TCTAATAACCTCTTAGTCGTTTCTAAGTTTTTGGCTGGCATTCTGTCGAT CTGATTAGATTGTCATTATTTTCTCTAGAAACATGGCTGCACTAGTGTCA GGAATGTTGGCTTGGCCACATTCTTATTGTTTGATTAGGTTTGCATTATT ATAATTGCCTTCAATCTGAGGTTTCTTCGCAAGAATATTTTTCAGACTCT TGGCAGTTGTGTGACAGCAAAGTGGTGTTTAAGCCATACATCGTAATTTG CAATTCCAACTCAATAGCCCCCCGATAACTGTGATATGTCACTCTAGGCT GAAATGTAACACATGAGGGTGACACTGCTGATAGCTTATTGATGGCCATC TGATGTTTGAACTGAATACTGGGCCCAAAGCCAATCTGTATATTAAACAT TGGGAAAGCTGCTGTGGTATGAATTGAGGATAATACATGTCACTATCCAG AACCGAGATATCTCACAGTTCATGTTC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA19030.hp1 HG00323.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0072 a0001c0001t0001g0058 a0001c0001t0001g0072	2	296	0.0068	-676	c.694 others(19): Show c.694-34294_694-33619del	MARCHF11	ENSG00000183654.9	transcript	ENST00000332432.9	protein_coding	2/3			chr5	TogoVar
SLC37A3_chr7_140328752_140403530	140371239	AATCTTGG others(669): Show AATCTTGGCTCACTGCAACCCCCACCTCCTGGGTGCAAGTGATTCTCCTG CCTCAGCCTCCCTCAGCTGGGATTACAGGCACGTGCCACCACGCCCAGAT AATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGATG GTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGTGCCCGACCGAGAGCTACGTTCTTTC TAACTGCAAAATGCCATGTATGATTCCGCAGGATGTTTATATTCTTCAGC TGTGTTTAAATCCAGTTTTTAAAATTCCTTTAGAATAAGAACCAAGTCTT ACACATATTTATACAGGGTCTAACAGTGAAAAGAACCCATGGTTATTTTG TCAATATCTTTTGTAATGAATTAAATAATGTCCATTCATTTTCATTTTAA AGAAAGATGAGCAGGATATATGAAACCAGGCCATGAGAGGAACCACTGAA GGAAATGGAAATACAAATTTATGCTGAAAAAAAGAGACACAAGGAATCTG TGAAAAATTATCCTCAACTTTATCTAGGGCCAGCAGTGGAAAAGAGATCT GAGTTAGTTTACAGAACTTTTTTTTTTTTTGGAGACGGAGTCTCGCTCTG TTACCCAGGCTGGAGTGCAATGGCACG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	344	0.0029	-676	c.199 others(17): Show c.199-2233_199-1558del	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	3/14			chr7	TogoVar
SMOC2_chr6_168436184_168672992	168560598	GCCCTGAG others(669): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAG GAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGG AGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTT GGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTC TTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCAT TCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGC ATTCTTGGAGGAGGTGTCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02135.hp2 NA19000.hp2 others(1): Show HG01361.hp1 HG02135.hp2 NA19000.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0007 a0001c0001t0001 a0001c0002t0002 a0001c0002t0007	a0001c0001t0001g0117 a0001c0002t0002g0007 a0001c0002t0002g0012 others(1): Show a0001c0001t0001g0117 a0001c0002t0002g0007 a0001c0002t0002g0012 a0001c0002t0007g0016	4	161	0.0248	-676	c.637 others(19): Show c.637+11421_637+12096del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560624	ATTCTTGG others(669): Show ATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA CTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACAC GAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTG AGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCC TGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGC CCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCAT ACCCTGAGACACGAGGCTCTCACTGCG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0053 a0001c0002t0007g0053	1	124	0.0081	-676	c.637 others(19): Show c.637+11445_637+12120del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560650	ACCCTGAG others(669): Show ACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTT TCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGA GGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAG GAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGG AGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTT GGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTC TTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCAT TCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGC GTTCTTGGAGGAGGTGTCATTTTCCTG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0049 a0001c0004t0005g0049	1	88	0.0114	-676	c.637 others(19): Show c.637+11472_637+12147del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560936	ATTCTTGG others(669): Show ATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACT GCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCT CTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACAC GAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTG AGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCC TGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGC CCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCAT ACCCTGAGACACGAGGCTCTCACTGCG	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	133	0.0075	-676	c.637 others(19): Show c.637+11757_637+12432del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561565	TGGAGGAG others(669): Show TGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTT CTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTG TTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTG CATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCAC TGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTC ACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTC TCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGC TCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAG GCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACA AGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACA CAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGA CACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGA GACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCT GAGACACGAGGCTCTCACTGTGTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	115	0.0087	-676	c.637 others(19): Show c.637+12381_637+13056del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1106846	GAGTGGTC others(669): Show GAGTGGTCACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGT AATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTG GTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCT TGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTG CTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGC TCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGA GCTCCTTGATAATAATGGACACGTGCTGTCACTCGGGTGCAGGGTATGGA GAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATG GAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTA TGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGG TATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAG GGTATGGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGC AGGGTATGGAGAGCTCCTTGGTAAGAGTGGTCACGTGCTGTCACTCGGGT GCAGGGTATGGAGAGCTGCTTGGTAAT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02300.hp1 HG03710.hp2 others(1): Show HG01192.hp2 HG02300.hp1 HG03710.hp2 NA18990.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0002 a0004c0014 a0008c0011 a0001c0002 a0004c0014 a0008c0011	a0001c0002t0001 a0004c0014t0001 a0008c0011t0001 a0001c0002t0001 a0004c0014t0001 a0008c0011t0001	a0001c0002t0001g0025 a0001c0002t0001g0030 a0004c0014t0001g0036 others(1): Show a0001c0002t0001g0025 a0001c0002t0001g0030 a0004c0014t0001g0036 a0008c0011t0001g0004	4	154	0.0260	-676	c.325 others(17): Show c.325+8442_325+9117del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM43_chr3_14120052_14148680	14136680	AGCCCAGA others(669): Show AGCCCAGAGCGGGGAGAGGGAGTGGGTGGGGGGGCTCCACCAAAGTCTGT GTCCTTCCAGAACATTAGGAGGGCGGGGAAGGGTTTTGGGCCTCAGCTAC CTGAGTATCCCTCTCCCATTGTAAATAGGGAGGGCTATGCCTACCCCGGG TCCCAAGGAGAAGGGGTGCCAAGATGTGCTGATTAGTTCAGTTCTGTGCC TTAAAAGTTAGCCTGTCTTCTCTAGGCAGGCAATCCTTCTCTGCAGCAGA AGAATTGAGTCTTTAGTTTTTCTGTTGTTGATGAACACAGGTATCCCTGG TGGGGCACTCTATACCTGCCCTAACCAGGACTGCTGGGGTTTTCATTCCA GAGTGGCCAGAAAGGGTCAAGGCAGCAGACAGGCATCAGGGGTTAGCTGT GACCTTTTGTTCCTATTATTAGATCCTCAGCAGCCATCTGTCCCATTAGC CTCCAGCTTGTGGTGGTGCTTGGGCCTCACCAACTCCTGGTACCTGGCCA GGGCTAGGGTGTGGTCAGGCTGTTGCCCAGGAGCCCAGTTACCAACCTCA GGGTAGGGCTGCCACCTCCCAGCCTAGAAGGCCATGAGTCACCCTTCCAC CAGCAGCTGAGGGTCCCCAGCGAGTTTCTAAAATTAGGAGGCCCAGTCCA GGCCTTGCTCTCTCTCCCAGGGCTGAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00639.hp1 others(60): Show HG00423.hp2 HG00438.hp1 HG00639.hp1 HG01243.hp2 HG01256.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01884.hp2 HG01981.hp1 HG01993.hp2 HG02040.hp2 HG02074.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp1 HG02293.hp2 HG02300.hp1 HG02602.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03139.hp1 HG03453.hp2 HG03486.hp1 NA18906.hp1 NA18940.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18951.hp1 NA18953.hp1 NA18955.hp1 NA18957.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp1 NA18983.hp1 NA18989.hp1 NA18991.hp1 NA18998.hp1 NA18999.hp1 NA19004.hp1 NA19009.hp1 NA19054.hp1 NA19058.hp1 NA19058.hp2 NA19064.hp2 NA19068.hp1 NA19074.hp1 NA19077.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1	a0001 a0003 a0015 a0001 a0003 a0015	a0001c0001 a0003c0003 a0015c0021 a0001c0001 a0003c0003 a0015c0021	a0001c0001t0007 a0001c0001t0027 a0003c0003t0001 others(2): Show a0001c0001t0007 a0001c0001t0027 a0003c0003t0001 a0003c0003t0015 a0015c0021t0001	a0001c0001t0007g0024 a0001c0001t0007g0058 a0001c0001t0007g0059 others(19): Show a0001c0001t0007g0024 a0001c0001t0007g0058 a0001c0001t0007g0059 a0001c0001t0007g0061 a0001c0001t0027g0057 a0003c0003t0001g0002 a0003c0003t0001g0018 a0003c0003t0001g0022 a0003c0003t0001g0033 a0003c0003t0001g0048 a0003c0003t0001g0125 a0003c0003t0001g0126 a0003c0003t0001g0127 a0003c0003t0001g0138 a0003c0003t0001g0139 a0003c0003t0001g0142 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0145 a0003c0003t0001g0152 a0003c0003t0015g0018 a0015c0021t0001g0002	63	404	0.1559	-676	c.882 others(16): Show c.882+779_882+1454del	TMEM43	ENSG00000170876.8	transcript	ENST00000306077.5	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP14_chr18_153557_219629	207030	GTGAATAT others(669): Show GTGAATATCTGGTTGTCTCAGCACCATTTTTTAAGAAGACTGTTCTTTGC CCATCAGATGGTCTTGGAACCTTTGTAGAGATTAATTTGACCATCTGTAT TTATGAGTGTATTTCTAGACTATTAATTTTATTCCATTGGTCTATATGTC TGTCCTGATGCTCATACCAGACTGACTTGATTACTGTAGTTTTCTAATAA GGCTTGAAATTGTGAAGTATCAGCCTTCACTTTTGTTCTTCTTTTTGAAA GTTATTTTAGCTATTCTGAGTCCCTTGCATTTCCATGTATATTTTAGGAT CAGCTTGTCCATTTCTTCAAAAAAGATTGACGGGGATTACACGGAATCTG TGGATCAATTAAAAAGTATTACTATCTTAATAGTATTAAGACTAATCTCA GCACTTTGGGAGGCCAAGGTGGGCAGATTGCTTGAGTCCAGAAGTTGGAG ACCAGCCTGGGCAACATGGCAAAACCCTGTCTCCACAAAAAATACAGAAA TTAGCCAGGCGTGGTGGCGTGTGCCTGTAGTCCCAGCTGTTCAGAAGGCT AAGGTGGGAGGATCACTTGAGCATGGGAAATGGAGGTCATAGTGAGCCAA AATGGTGCCACTGCACTCCAGTCTGAGTGACTGAGTAAGACTGTGTCTCA AAAAATAAAAAGTATTAAGTCTTACAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG01069.hp2 others(21): Show HG00280.hp1 HG00642.hp1 HG01069.hp2 HG01099.hp2 HG01175.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01517.hp1 HG01978.hp1 HG02055.hp2 HG02148.hp1 HG02602.hp2 HG02698.hp2 HG02809.hp2 HG02896.hp1 HG02970.hp2 HG03490.hp1 HG03579.hp2 HG03927.hp1 HG04199.hp1 HG04228.hp2 NA19030.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0006 a0001c0002t0012 others(5): Show a0001c0001t0006 a0001c0002t0006 a0001c0002t0012 a0001c0002t0016 a0001c0002t0032 a0001c0002t0033 a0001c0002t0034 a0001c0002t0035	a0001c0001t0006g0187 a0001c0001t0006g0197 a0001c0002t0006g0020 others(17): Show a0001c0001t0006g0187 a0001c0001t0006g0197 a0001c0002t0006g0020 a0001c0002t0006g0046 a0001c0002t0006g0136 a0001c0002t0006g0160 a0001c0002t0006g0166 a0001c0002t0006g0167 a0001c0002t0012g0158 a0001c0002t0012g0159 a0001c0002t0012g0161 a0001c0002t0012g0162 a0001c0002t0012g0164 a0001c0002t0016g0044 a0001c0002t0016g0045 a0001c0002t0016g0165 a0001c0002t0032g0163 a0001c0002t0033g0168 a0001c0002t0034g0157 a0001c0002t0035g0044	24	378	0.0635	-676	c.116 others(19): Show c.1164+2340_1165-2264del	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
B3GNTL1_chr17_82937149_83056770	82976167	GACTCCAT others(668): Show GACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCG GGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTTATGGGGA AACAGGGCCCCAGGACAGAGCCGGATTCCATCCTCCCAGGGGCTGGAGGC CACTTATGGGGAACGAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCA GGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACT CCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGAC AGAGCCGGACTCCATCCTCCCAGGGGCCAGAGGCCACTTATGGGGAAACA GGGCCCCAGGACAGAGCCCGACTCCATCCTCCCAGGGGCCGGAGGCCACT TATGGGGAACAAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGA CCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCAT CCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAG CCGGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCC CCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGA GAGTCAGGGCCCCGGGACAGAGCCGA	G G	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0057 a0002c0005t0003g0057	1	266	0.0038	-675	c.460 others(19): Show c.460-11096_460-10422del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
CDA_chr1_20584097_20623903	20605522	TGGTGGCG others(668): Show TGGTGGCGGATGCTTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGA ATGGTGTGAACCTGGGAGGCAGAGCTTGCAGTGAGCCGAGATGGCGCCAC TGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAA AATTTTTTTTTGCTGATGGTGGCATGCCCATAGTCCCAGCTATTTGGGAG GCTGAGGCAGGAGGATCACTTGAGCCTGGGAGTTCGAGGCTGGAATGAGC CATGATTATGCCATTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTC TCAAAAACAACACAAAACAAAAAAGCATTGAGAACAGTTTGGAAAGGTCT TCACCGGCAAGTAATTATCACAGTGTTGTACCATTGGATTCTCTTGGCTT ACTTATAGGTTCTGTATTGTTTGAATAACAAAAAAGGAATACTGAAAGCT GGGTTTAGTGCAAGGCCAGTGGGGACTGCACAGAAGCAAGCCCACGTGCC TTTTATAAGATCCTACACTTTGCCTCAGTCTGGCCCCAAGGAGACCCAGC TTAATTTGTTTCTGAGTAAGTAAAGCCCGAGGTGCACTCAAGGAGAAGGG CTCCAGTATCCGATAGCCTTCCCTGTCACCGAGGTGTGTCCTGGCTTCCT TAAGGCTTCCGGAGGAATAAATGACG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(119): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG01070.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01934.hp1 HG01943.hp2 HG01981.hp1 HG02015.hp2 HG02056.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02258.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18944.hp2 NA18947.hp1 NA18949.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18982.hp1 NA18987.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18999.hp2 NA19007.hp2 NA19012.hp1 NA19030.hp1 NA19056.hp1 NA19065.hp1 NA19066.hp2 NA19072.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp2 NA19082.hp2 NA19085.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0004 a0001c0006t0001 a0001c0006t0003 a0001c0007t0003 a0002c0003t0002 a0002c0004t0003	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 others(98): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0053 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0253 a0001c0001t0001g0292 a0001c0001t0001g0343 a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0045 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0068 a0001c0001t0003g0078 a0001c0001t0003g0081 a0001c0001t0003g0101 a0001c0001t0003g0270 a0001c0002t0002g0008 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0079 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0111 a0001c0002t0002g0150 a0001c0002t0002g0257 a0001c0002t0002g0271 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0291 a0001c0002t0004g0117 a0001c0002t0004g0151 a0001c0006t0001g0162 a0001c0006t0003g0046 a0001c0006t0003g0272 a0001c0007t0003g0017 a0001c0007t0003g0065 a0002c0003t0002g0299 a0002c0004t0003g0297 a0002c0004t0003g0298	122	416	0.2933	-675	c.266 others(16): Show c.266+485_266+1159del	CDA	ENSG00000158825.6	transcript	ENST00000375071.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
CROCC2_chr2_240901336_240998311	240978221	TCTCTGGG others(668): Show TCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCAGGATCCCAGGCTCACCCCTCCTCAGTCTCTGGGGT AGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGAGCCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCA GGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTACGAGCCTCAGGAGC CCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGG CTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCAT CCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTG CTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAG TCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTCT GGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCCGTCTCTGTGGT AGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAG CCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCA GGAGCCCAGGCTCATCCCTGCTCAAG	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01081.hp2 HG01175.hp2 others(20): Show HG00544.hp2 HG01081.hp2 HG01175.hp2 HG01192.hp2 HG02004.hp2 HG02129.hp2 HG02300.hp2 HG03688.hp1 HG03831.hp2 NA18612.hp2 NA18952.hp1 NA18960.hp2 NA18962.hp2 NA18965.hp1 NA18984.hp1 NA18986.hp2 NA19005.hp1 NA19012.hp1 NA19012.hp2 NA19065.hp1 NA19070.hp1 NA19080.hp2 NA19082.hp2	a0001 a0005 a0006 others(4): Show a0001 a0005 a0006 a0010 a0011 a0024 a0033	a0001c0001 a0001c0022 a0005c0005 others(5): Show a0001c0001 a0001c0022 a0005c0005 a0006c0006 a0010c0010 a0011c0038 a0024c0057 a0033c0049	a0001c0001t0001 a0001c0001t0002 a0001c0022t0002 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0022t0002 a0005c0005t0001 a0006c0006t0001 a0006c0006t0009 a0010c0010t0001 a0011c0038t0001 a0024c0057t0002 a0033c0049t0001	a0001c0001t0001g0077 a0001c0001t0001g0122 a0001c0001t0001g0124 others(20): Show a0001c0001t0001g0077 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0172 a0001c0001t0001g0191 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0022t0002g0239 a0001c0022t0002g0318 a0005c0005t0001g0035 a0005c0005t0001g0093 a0006c0006t0001g0033 a0006c0006t0001g0073 a0006c0006t0009g0111 a0010c0010t0001g0145 a0010c0010t0001g0203 a0011c0038t0001g0068 a0024c0057t0002g0338 a0033c0049t0001g0200	23	280	0.0821	-675	c.440 others(19): Show c.4402-4591_4402-3917del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT9_chr12_132191372_132334589	132223361	ACNNNNNN others(668): Show ACNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNN	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01175.hp2 HG01243.hp1 others(5): Show HG00733.hp1 HG01175.hp2 HG01243.hp1 HG02735.hp2 HG03017.hp1 HG03688.hp1 HG03942.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0018 a0001c0021 a0001c0041	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0018t0001 a0001c0021t0004 a0001c0041t0015	a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0002t0001g0068 others(5): Show a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0002t0001g0068 a0001c0006t0001g0097 a0001c0006t0001g0098 a0001c0018t0001g0047 a0001c0021t0004g0155 a0001c0041t0015g0178	8	156	0.0513	-675	c.107 others(21): Show c.1078-20346_1078-19672del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
IDI1_chr10_1034419_1054119	1046924	TCTACACC others(668): Show TCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCAC ACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTG TCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCAC ACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTG TCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCAC ACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTG TCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCAC ACAGCCCAGCTGCTCCACTGTCTACTGTCTACACCACACAGCCCAGCTGC TCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTGGTCCTTTGT CTACACCACACAGCCCAGCTGCTCCA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00735.hp2 HG01069.hp2 others(33): Show HG00558.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01123.hp1 HG01496.hp2 HG02129.hp1 HG02135.hp2 HG02300.hp1 HG03239.hp2 HG04115.hp2 HG04204.hp2 NA18941.hp1 NA18944.hp2 NA18948.hp2 NA18950.hp2 NA18957.hp1 NA18964.hp1 NA18971.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18989.hp2 NA18992.hp2 NA18998.hp1 NA19002.hp1 NA19009.hp2 NA19010.hp2 NA19056.hp1 NA19058.hp1 NA19062.hp2 NA19074.hp2 NA19076.hp1 NA19080.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0070 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0003t0001g0022	36	436	0.0826	-675	c.140 others(17): Show c.140+1265_140+1939del	IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding	1/4			chr10	TogoVar
ACAP3_chr1_1287391_1312930	1288663	TCCCGTGT others(667): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTC CCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCCCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	255	0.0039	-674	c.42 others(11): Show c.4227_*4900del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3727		chr1	TogoVar
ADARB2_chr10_1172313_1742525	1701057	TCAATCCC others(667): Show TCAATCCCACTCCACCGGGAGACCAGGCGCTAGTCAATACACGCAATCCC ACTCTACCAGGAGACCGGGCACTCGCCAATACACACAATCCCACTCCACC GGGAGACCAGGCGCTCGTCAATACACTCAATCCCACTCCACCGGGAGACC AGGCACTCACCAATACACGCAATCCCACTCCACCGGGAGACCAGGCGCTA GTCAATACACGCAATCCCACTCCACCGGGAGACCAGACGCTAGTCAATAC ACGCAATCCCACTCCACCAGGAGACCGGGCACTCGCCAATACACGCAATC CCACTCCACCGGGAGACCAGGCGCTAGTCAATACACGCAATCCCACTCCA CCAGGAGACCAGGCGCTCGCCAATACACGCAATCCCACTCCACCGGGAGA CCAGGCGCTCGCCAATACACTCAATCCCACTCCACCGGGAGACCAGGCAT TCTCGCCAACACACACAATCCCACTCCACCAGGAGACCAGGCGCTCGCCA ATACACTCAATCCCACTCCACCAGGAGACCAGGCGCTAGTCAATACACGC AATCCCACTCTACCAGGAGACCGGGCACTCGCCAACACACACAATCCCAC TCCACCGGGAGACCAGGCGCTCGTCAATACACTCAATCCCACTCCACCGG GAGACCAGGCACTCGCCAATACACG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(57): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00639.hp2 HG01081.hp1 HG01081.hp2 HG01243.hp1 HG01243.hp2 HG01433.hp2 HG01934.hp1 HG01934.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02886.hp1 HG02897.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp2 HG03669.hp1 HG03669.hp2 NA18522.hp1 NA18522.hp2 NA18967.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18989.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19011.hp1 NA19070.hp1 NA19086.hp1 NA20129.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0008 a0009 a0010 a0011	a0001c0001 a0001c0003 a0001c0007 others(9): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0004 a0002c0016 a0003c0006 a0004c0005 a0008c0008 a0009c0015 a0010c0012 a0011c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(44): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0035 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0003t0009 a0001c0003t0032 a0001c0003t0039 a0001c0003t0060 a0001c0007t0066 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0026 a0002c0002t0027 a0002c0002t0041 a0002c0002t0042 a0002c0002t0043 a0002c0002t0048 a0002c0002t0053 a0002c0002t0063 a0002c0002t0064 a0002c0004t0047 a0002c0016t0006 a0003c0006t0067 a0004c0005t0002 a0004c0005t0037 a0008c0008t0016 a0009c0015t0014 a0010c0012t0007 a0011c0011t0034	a0001c0001t0001g0069 a0001c0001t0003g0085 a0001c0001t0003g0097 others(57): Show a0001c0001t0001g0069 a0001c0001t0003g0085 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0009g0055 a0001c0001t0011g0017 a0001c0001t0011g0026 a0001c0001t0013g0007 a0001c0001t0015g0005 a0001c0001t0017g0030 a0001c0001t0019g0038 a0001c0001t0022g0015 a0001c0001t0029g0031 a0001c0001t0030g0034 a0001c0001t0031g0059 a0001c0001t0035g0079 a0001c0001t0051g0051 a0001c0001t0052g0062 a0001c0001t0054g0083 a0001c0001t0056g0081 a0001c0001t0057g0103 a0001c0003t0009g0046 a0001c0003t0032g0071 a0001c0003t0039g0044 a0001c0003t0060g0104 a0001c0007t0066g0105 a0002c0002t0002g0043 a0002c0002t0002g0050 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0004g0095 a0002c0002t0004g0096 a0002c0002t0004g0101 a0002c0002t0005g0012 a0002c0002t0005g0022 a0002c0002t0006g0011 a0002c0002t0006g0018 a0002c0002t0006g0019 a0002c0002t0007g0004 a0002c0002t0008g0042 a0002c0002t0008g0047 a0002c0002t0008g0058 a0002c0002t0026g0032 a0002c0002t0027g0021 a0002c0002t0041g0074 a0002c0002t0042g0061 a0002c0002t0043g0053 a0002c0002t0048g0068 a0002c0002t0053g0106 a0002c0002t0063g0091 a0002c0002t0064g0100 a0002c0004t0047g0063 a0002c0016t0006g0010 a0003c0006t0067g0080 a0004c0005t0002g0039 a0004c0005t0037g0064 a0008c0008t0016g0003 a0009c0015t0014g0008 a0010c0012t0007g0006 a0011c0011t0034g0076	60	105	0.5714	-674	c.100 others(19): Show c.100+35320_100+35993del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar

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