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
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(188): Show ATGTGTGTGTGTATATACATATATATACTATATGTGTGTATATATATACA TATATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTA TATATATACATATATATACTATATATGTGTGTGTGTGTGTATATATATAT ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0104 a0001c0002t0005g0104	1	282	0.0035	195	c.-11 others(206): Show c.-1175_-1174insTGTGTGTGTGTATATACATATATATACTATATGT GTGTATATATATACATATATACTATATGTGTGTATATATATACATATATA CTATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTG TGTGTATATATATATATATATATATATATATATATATTTTTTTTTTTTTT TTTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(188): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA19056.hp1 NA19067.hp1 others(1): Show NA18955.hp1 NA19056.hp1 NA19067.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0036 a0001c0001t0001g0116 a0001c0004t0001g0100 a0001c0001t0001g0036 a0001c0001t0001g0116 a0001c0004t0001g0100	4	167	0.0240	195	c.-42 others(206): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DIP2C_chr10_269201_694668	429406	C C	CCCCCCGG others(188): Show CCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCC GGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCCC TGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGCTG CCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCGGACCCTGGCTGCCT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	84	0.0119	195	c.395 others(212): Show c.395-6374_395-6373insAGGCAGCCAGGGTCCGGGGGGAGGCAGC CAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGGC CCGGGGGGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGGG GGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGGGGGGAGG CAGCCAGGGCCCGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478189	G G	GAAGGGAG others(188): Show GAAGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGG GAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGG GAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAA GAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	85	0.0118	195	c.158 others(212): Show c.158-5641_158-5640insTTTCTCCCCTCCCTTCTTCTCCCCTCCC TTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTT CTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCC CTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCC CTCCCCTCCCCTCCCTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478191	A A	AGGGAGGG others(188): Show AGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGA GGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGA GAAAAAGGGAGGGGAGAAGAAGGGAGGAGAGGGGAGGGGAGGGGAGAAGA AGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0047 a0001c0012t0002g0047	1	54	0.0185	195	c.158 others(212): Show c.158-5643_158-5642insCTCCCCTCCCTTCTTCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCTCCTCCCTTC TTCTCCCCTCCCTTTTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTC CCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTC CCTTCTTCTCCCCTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	556266	G G	GCACCCAC others(188): Show GCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCAC CCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGC CGGATCCCAGGACGGCACCCACCCACCCCCTCCCACAGCCGGATCCCAGG ACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0055 a0001c0002t0003g0055	1	49	0.0204	195	c.86- others(212): Show c.86-69737_86-69736insGGTGCCGTCCTGGGATCCGGCTGTGGGA GGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGGTGGGTGG GTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGG GATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTG GGAGGGGTGGGTGGGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1508492	C C	CCCCACCC others(188): Show CCCCACCCCTCACCACCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCC CACCACCCCCCACCCCTCACCACCCCCTGCAAACCCCCACCCCCCCACAC AAACCCCCGCCACCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCAC CACCCCCCACCCCTCACCACCCCCCGCAAACCCCCGCCACCCCCCA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0007 a0001c0003t0013g0007	1	39	0.0256	195	c.172 others(212): Show c.172+7063_172+7064insCACCCCTCACCACCCCCTGCAAACCCCC GCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACCACCCCCTGCA AACCCCCACCCCCCCACACAAACCCCCGCCACCCCCTGCAAACCCCCGCC ACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACCACCCCCCGCAAAC CCCCGCCACCCCCCACC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1562274	G G	GGTGTCCG others(188): Show GGTGTCCGTGCCTCGTTGCTGGTGGACTGTGTGGTGTTGGGTGTCCGCGC CTTGTTGCTGGGGGACTGTGTGGTGTTGGGGTGTCCGTGCCTCATTGCTG GGGGACTGTGTGGTGTTGGGGTGTCCACGCCTCGTTACTGGGGGGCTGTG TGGTGTTGGGGTGTCTGCGCCTCGTTACTGGGGGACTGGTGTTGGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02922.hp1 HG01496.hp2 HG02922.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0004 a0003c0005t0002 a0003c0005t0004	a0003c0005t0002g0030 a0003c0005t0004g0037 a0003c0005t0002g0030 a0003c0005t0004g0037	2	40	0.0500	195	c.123 others(214): Show c.1231-3404_1231-3403insCGTGCCTCGTTGCTGGTGGACTGTGT GGTGTTGGGTGTCCGCGCCTTGTTGCTGGGGGACTGTGTGGTGTTGGGGT GTCCGTGCCTCATTGCTGGGGGACTGTGTGGTGTTGGGGTGTCCACGCCT CGTTACTGGGGGGCTGTGTGGTGTTGGGGTGTCTGCGCCTCGTTACTGGG GGACTGGTGTTGGAGTGTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK1_chr10_126900428_127457516	126947417	G G	GTGGTGGT others(188): Show GTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTA CTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTAC TGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0135 a0001c0004t0002g0135	1	126	0.0079	195	c.47- others(212): Show c.47-23255_47-23254insATGGTGGTTGGTAGTATTACTGTTGGTG GTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTA GTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGG TGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAG TATTACTGTTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947541	G G	GTGATGAT others(188): Show GTGATGATGGTGGTGGTTGGTAGTACTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGGTGATGGTAGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTTGG TAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0048 a0001c0011t0001g0048	1	132	0.0076	195	c.47- others(212): Show c.47-23159_47-23158insATGATGGTGGTGGTTGGTAGTACTACTG TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTAGTTGGTAGTATTACTGT TGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGT TGGTAGTATTACTGTTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947606	T T	TTGGTGGT others(188): Show TTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTG GTAGTATTACTGTTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGG TGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAG TATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0130 a0001c0005t0012g0130	1	38	0.0263	195	c.47- others(212): Show c.47-23091_47-23090insGTGATGGTGGTTGGTAGTATTACTGTTG GTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTTGGTA GTATTACTGTTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA TGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAG TATTACTGTTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOP1A_chr6_83062671_83173471	83145192	A A	ATATATAT others(188): Show ATATATATATAATATATATAATATGTATATATAATATATATATAATATGT ATATATAATATATATATAATATATATAATATATATAATATATATATAATA TATATAATATATATATAATATATATATTATATATATTATATATATAATAT ATATATAATATATATATAATATATATATAATATATATATTTAAAAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	176	0.0057	195	c.554 others(212): Show c.5542-322_5542-321insATATATATAATATGTATATATAATATAT ATATAATATGTATATATAATATATATATAATATATATAATATATATAATA TATATATAATATATATAATATATATATAATATATATATTATATATATTAT ATATATAATATATATATAATATATATATAATATATATATAATATATATAT TTAAAAGTATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DPYSL4_chr10_132181948_132210759	132184179	C C	CACCAGTG others(188): Show CACCAGTGTGTTGTTTACCTTGTGCCCATGGTCCAGATTTTGAGCTGGAG AAGGACTATGGCTGTTCCTTAAAGTCTCTGCCCTTGCAGAATCTGTAGCC TTCAGGATACCCCGAGTGCCTTACAGGGCTTGTGAACACCGATACTAGAA GTCAAAAAGAAGAGAGTGCCCAAGTGTGGGTTTGGAGGCACTGACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0020 a0001c0001t0009g0020	1	416	0.0024	195	c.-28 others(206): Show c.-2885_-2884insACCAGTGTGTTGTTTACCTTGTGCCCATGGTCCA GATTTTGAGCTGGAGAAGGACTATGGCTGTTCCTTAAAGTCTCTGCCCTT GCAGAATCTGTAGCCTTCAGGATACCCCGAGTGCCTTACAGGGCTTGTGA ACACCGATACTAGAAGTCAAAAAGAAGAGAGTGCCCAAGTGTGGGTTTGG AGGCACTGACG	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding		2768		chr10	TogoVar
DUSP8_chr11_1549051_1577271	1550985	T T	TCATCCAT others(188): Show TCATCCATCCATCCATCCACCCACCCATCCACCCCACTCATCCCTCTACC CATTCATCCATCTGCCCATCCATCCATCCATCCACCCACCCACCCCACTC ATCCCTCTACCCATTCATCCATCTGCCCATCCATCCATCCATCCATCCAC CCACCCATCCACCCCACTCATCCCTCTACCCATTCATCCATCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA19082.hp1 NA18963.hp2 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0037 a0001c0002t0002 a0001c0002t0037	a0001c0002t0002g0002 a0001c0002t0037g0138 a0001c0002t0002g0002 a0001c0002t0037g0138	2	170	0.0118	195	c.55 others(206): Show c.5532_*5533insGGCAGATGGATGAATGGGTAGAGGGATGAGTGGG GTGGATGGGTGGGTGGATGGATGGATGGATGGATGGGCAGATGGATGAAT GGGTAGAGGGATGAGTGGGGTGGGTGGGTGGATGGATGGATGGATGGGCA GATGGATGAATGGGTAGAGGGATGAGTGGGGTGGATGGGTGGGTGGATGG ATGGATGGATG	DUSP8	ENSG00000184545.11	transcript	ENST00000397374.8	protein_coding		3065		chr11	TogoVar
EGFL7_chr9_136657916_136677678	136671231	G G	GGGGGGGC others(188): Show GGGGGGGCAGGCAGTCCAGGGTGGACCTGCTGGAGGAGGTGAGGTGTGGA GGGGCAGGCAGTCCAGGGTGAACCTGCTGGAGGAGGTGAGGCATCGGGGG GGTAGGCAGGCAGTCCAGGGTGGACCTGCTGGAGGAGGTGAGGCGTCGGG GGGGCAGGCAGTCCAGGGTGGACCTGCTGGAGGAGGTGAGGCGTCA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0073 a0002c0002t0002g0073	1	358	0.0028	195	c.636 others(210): Show c.636+254_636+255insGTGAGGTGTGGAGGGGCAGGCAGTCCAGGG TGAACCTGCTGGAGGAGGTGAGGCATCGGGGGGGTAGGCAGGCAGTCCAG GGTGGACCTGCTGGAGGAGGTGAGGCGTCGGGGGGGCAGGCAGTCCAGGG TGGACCTGCTGGAGGAGGTGAGGCGTCAGGGGGGCAGGCAGTCCAGGGTG GACCTGCTGGAGGAG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716448	T T	TTGGTGTC others(188): Show TTGGTGTCATGGTGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGGTGGTGTCGTGGGGGAGGAAGTTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0126 a0002c0010t0001g0126	1	133	0.0075	195	c.86- others(208): Show c.86-161_86-160insGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGGTGGTGTCGTGGGGGAGGAAGTTGTGGT GTCATGGTGGGGG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF3B_chr7_2349827_2385745	2377913	C C	CATGGAGG others(188): Show CATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0007	1	190	0.0053	195	c.215 others(212): Show c.2155-776_2155-775insATGGAGGAAGGAGCAGGCGCGAGCGCTC CTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGC AGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTC ATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAA TGACCCTGGGTGTCATG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18			chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377913	C C	CATGGAGG others(188): Show CATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAT GCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCACTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0007	1	190	0.0053	195	c.215 others(212): Show c.2155-776_2155-775insATGGAGGAAGGAGCAGGCGCGAGCGCTC CTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGC AGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTC ATGGAGGAAGGAGCAGGCGCGAGCACTCCTGGGAATCCGTGTTCTGTGAA TGACCCTGGGTGTCATG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18			chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377913	C C	CATGGAGG others(188): Show CATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18951.hp2 HG02486.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0129 a0001c0001t0001g0005 a0001c0001t0001g0129	2	191	0.0105	195	c.215 others(212): Show c.2155-776_2155-775insATGGAGGAAGGAGCAGGCGCGAGCTCTC CTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGC AGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTC ATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAA TGACCCTGGGTGTCATG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18			chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377913	C C	CATGGAGG others(188): Show CATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	190	0.0053	195	c.215 others(212): Show c.2155-776_2155-775insATGGAGGAAGGAGCAGGCGCGAGCTCTC CTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGC AGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTC ATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAA TGACCCTGGGTGTCATG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18			chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378230	C C	CATGGAGG others(188): Show CATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGA ATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAT GCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	213	0.0047	195	c.215 others(212): Show c.2155-459_2155-458insATGGAGGAAGGAGCAGGCGTGAGCTCTT CTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGC AGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTC ATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAA TGACCCTGGGTGTCATG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18			chr7	TogoVar
EIF3H_chr8_116637130_116760823	116679122	G G	GGGGGGTC others(188): Show GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCATCCGGGAGGAAGGTGGGGGGGTCAGCCCCCCGCCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0010 a0001c0001t0011g0010	1	324	0.0031	195	c.290 others(214): Show c.290-20143_290-20142insGGGCGGGGGGCTGACCCCCCCACCTT CCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCC	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7			chr8	TogoVar
ENTPD8_chr9_137429364_137446357	137438550	T T	TCCGGGGC others(188): Show TCCGGGGCTCAGACGGCCTCCCGTGGCCATAGAGGCATCCCCGGGGCTCA GACGGCCTCCCGTGGCCATAGAGGCATCCCCGGGGCTCAGACGGTCTCCC GTGGCCATAGAGGCATCCCCGGGGCTCAGACGGTCTCCCGTGGCCATAGA GGCATCCCCGGGGCTCAGACGGCCTCCCGTGGCCATAGAGGCATCC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	386	0.0026	195	c.-20 others(210): Show c.-20-246_-20-245insGGATGCCTCTATGGCCACGGGAGGCCGTCT GAGCCCCGGGGATGCCTCTATGGCCACGGGAGACCGTCTGAGCCCCGGGG ATGCCTCTATGGCCACGGGAGACCGTCTGAGCCCCGGGGATGCCTCTATG GCCACGGGAGGCCGTCTGAGCCCCGGGGATGCCTCTATGGCCACGGGAGG CCGTCTGAGCCCCGG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ERICH1_chr8_659200_736224	675761	T T	TGAGGACA others(188): Show TGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGCCC CCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCG GCGGCCCCTCGGCGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAG ACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0304 a0001c0003t0002g0304	1	268	0.0037	195	c.305 others(212): Show c.305-1715_305-1714insGCCGAGGGGGCGCCGCGTCTCTGTCCTC GCCGAGGGGGCGCCGCGTCTCTGTCCTCACGAGGGGCCGCCGCGCCTCTG TCCTCGCCGAGGGGCCGCCGCGTCTCTGTCCTCGCCGAGGGGCCGCCGCG TCTCTGTCCTCGCCGAGGGGGCGCCGCGTCTCTGTCCTCGCCGAGGGGGC GCCGCGTCTCTGTCCTC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
FAM120B_chr6_170301758_170412067	170399739	T T	TCTTAGGA others(188): Show TCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAAG TAGAACTATGTCATAACTCTTAGAAGTGAGTGGGAAAGGTAGAACTATGT CATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp1 HG01071.hp1 others(19): Show HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01433.hp2 HG01978.hp2 HG02056.hp1 HG02132.hp2 HG02300.hp1 HG02523.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18959.hp1 NA18969.hp1 NA18970.hp1 NA18979.hp2 NA18982.hp1 NA18990.hp1 NA19060.hp2 NA19066.hp1 NA19076.hp1 NA19089.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0015 a0003c0004t0003 a0003c0004t0015	a0003c0004t0003g0008 a0003c0004t0003g0151 a0003c0004t0003g0152 others(18): Show a0003c0004t0003g0008 a0003c0004t0003g0151 a0003c0004t0003g0152 a0003c0004t0003g0153 a0003c0004t0003g0155 a0003c0004t0003g0156 a0003c0004t0003g0157 a0003c0004t0003g0158 a0003c0004t0003g0159 a0003c0004t0003g0160 a0003c0004t0003g0161 a0003c0004t0003g0162 a0003c0004t0003g0163 a0003c0004t0003g0164 a0003c0004t0003g0165 a0003c0004t0003g0166 a0003c0004t0003g0167 a0003c0004t0003g0168 a0003c0004t0003g0169 a0003c0004t0015g0150 a0003c0004t0015g0154	22	178	0.1236	195	c.269 others(214): Show c.2692+4174_2692+4175insGGGAAGGTAGAACTATGTCATAACTC TTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAG TGGGGAAAGTAGAACTATGTCATAACTCTTAGAAGTGAGTGGGAAAGGTA GAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCA TAACCCTTAGGAGTGAGTG	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM240C_chr2_241888988_241905464	241896714	G G	GGGGTGTG others(188): Show GGGGTGTGGGTGTTGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTGTG GGTGTGGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGAAGG GGTTTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTGGGGGTGTGGG TGTTGGGGTGTGGGTGAAGGGGTGTGTGTGTTGGGGTGTGGGTGAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0012	1	27	0.0370	195	c.161 others(210): Show c.161+471_161+472insTTCACCCACACCCCAACACACACACCCCTT CACCCACACCCCAACACCCACACCCCCACACCCACACCCCAACACCCACA CCCCAACACCCAAACCCCTTCACCCACACCCCAACACCCACACCCCAACA CCCACACCCCCACACCCACACCCCAACACCCACACCCCCACACCCACACC CCAACACCCACACCC	FAM240C	ENSG00000216921.9	transcript	ENST00000404031.6	protein_coding	2/2			chr2	TogoVar
FBN3_chr19_8060402_8154592	8086068	A A	AGGGAACA others(188): Show AGGGAACAGGCAGTGGGAGGGACAGGGAGTGAAGGGGGCAGGCAGTGGGG GGAACAGGCAGTGGGAGGGACAGGGAGTGGGGGGGGACAGGCAGTGGGGG GAACAGGCAGTGGGAGGGACAGGGAGTGAAGGGGGCAGGCAGTGGGGGGA ACAGGCAGTGGGGGGGGACAGGCAGTGGGGGGGGACAGGCAGTGGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0004 a0004	a0004c0205 a0004c0205	a0004c0205t0002 a0004c0205t0002	a0004c0205t0002g0206 a0004c0205t0002g0206	1	305	0.0033	195	c.688 others(212): Show c.6880+131_6880+132insCCCACTGCCTGTCCCCCCCCACTGCCTG TCCCCCCCCACTGCCTGTTCCCCCCACTGCCTGCCCCCTTCACTCCCTGT CCCTCCCACTGCCTGTTCCCCCCACTGCCTGTCCCCCCCCACTCCCTGTC CCTCCCACTGCCTGTTCCCCCCACTGCCTGCCCCCTTCACTCCCTGTCCC TCCCACTGCCTGTTCCC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	55/63			chr19	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATACA others(188): Show TATATACAATATATAAATATATATAAATATATACAATATATAAATATATA TAAATATATACAATATATAAATATATATAAATATATACAATATATAAATA TATATAAATATATATAATATATAAATATATATAAATATATAAATATATAT AAATATATATAATATATAAATATATAAAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	2	13	0.1538	195	c.617 others(212): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTATATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATAT ATTTATATATTGTATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATACA others(188): Show TATATACAATATATAAATATATATAAATATATACAATATATAAATATATA TAAATATATATAATATATAAATATATATAAATATATACAATATATAAATA TATATAAATATATATAATATATAAATATATATAAATATATAAATATATAT AAATATATATAATATATAAATATATAAAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG00639.hp2 others(4): Show HG00597.hp2 HG00609.hp2 HG00639.hp2 HG02683.hp1 HG02738.hp2 NA18906.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0007 a0004c0005t0001 a0001c0001t0001 a0001c0001t0007 a0004c0005t0001	a0001c0001t0001g0243 a0001c0001t0001g0262 a0001c0001t0001g0269 others(4): Show a0001c0001t0001g0243 a0001c0001t0001g0262 a0001c0001t0001g0269 a0001c0001t0001g0283 a0001c0001t0007g0012 a0004c0005t0001g0253 a0004c0005t0001g0254	7	18	0.3889	195	c.617 others(212): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTATATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTATATATATTTATATATATTTATATATTGTATATATTTATATAT ATTTATATATTGTATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FGFR4_chr5_177081915_177103144	177097100	C C	CTCCTCCT others(188): Show CTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTC CTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0015 a0003c0006t0001g0015	1	183	0.0055	195	c.215 others(212): Show c.2154-191_2154-190insCCTCCTCCTCCTCCTCCTCTTCCTCCTC CTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCC TCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTC TTCCTCCTCCTCCTCTT	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FOXJ3_chr1_42171548_42340235	42324103	T T	TGTATATA others(188): Show TGTATATATAGTATATATACTGTATATACACAGTGTATATATAGTGTATA TATACTGTATATACACAGTGTATATATAGTATATACACAGTGTATATATA CAGTATATATACTGTATATACACAGTGTATATATAGTGTATATATACACT ATATATACACTGTGTATATACAGTATATATACACTGTGTATATACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03516.hp2 HG01884.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0236 a0001c0001t0002g0228 a0001c0001t0002g0236	2	329	0.0061	195	c.-18 others(214): Show c.-18+10955_-18+10956insTGTATATACACAGTGTATATATACTG TATATACACAGTGTATATATAGTGTATATATACACTATATATACACTGTG TATATACAGTATATATACTGTATATATACACTGTGTATATACTATATATA CACTGTGTATATACAGTATATATACACTATATATACACTGTGTATATACA GTATATATACTATATATAC	FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	1/12			chr1	TogoVar
FOXK2_chr17_82514732_82609602	82586258	G G	GGGGGAAA others(188): Show GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0165 a0001c0001t0028g0165	1	285	0.0035	195	c.157 others(210): Show c.1576+62_1576+63insAAAGGAGGAGAGGGGAGACCACAGGGAGGT CAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGGCGGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGGCAGTGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586353	C C	CAGTGGGG others(188): Show CAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC AGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAG TGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCGGA GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0205 a0001c0001t0033g0205	1	250	0.0040	195	c.157 others(212): Show c.1576+153_1576+154insAGTGGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTCAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTGAAAGGTGGGCG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8			chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586421	G G	GGGAGACC others(188): Show GGGAGACCACAGGGAAGTCAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGG GAGACCACAGGGAGGTGAAAGGTAGGCAGGGGGGGAAAGGAGGAGAGGGG AGACCACAGGGAGGTCAAAGGTAGGCAGTGGGGGAAAGGAGGAGAGGGGA GACCACAGGGAGGTCAAAGGTAGGCCGGGGGGGAAAGGAGGAGAAT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0092 a0001c0001t0004g0092	1	303	0.0033	195	c.157 others(212): Show c.1576+235_1576+236insAGTCAAAGGTAGGCGGAGGGGAAAGGAG GAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCAGGGGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCAGTGGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTCAAAGGTAGGCCGGGGGGGAAAGGAGGAG AATGGAGACCACAGGGA	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586499	C C	CGGGGGGG others(188): Show CGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC CGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCC AGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCA GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	271	0.0037	195	c.157 others(212): Show c.1576+299_1576+300insGGGGGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAGGTGAAAGGTGGGCCGGAGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTCAAAGGTGGGCCAGGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTCAAAGGTGGGCCAGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8			chr17	TogoVar
FOXN3_chr14_89151177_89422233	89360767	T T	TACCACCT others(188): Show TACCACCTCCAGCACCACCTCCACCACCACCTCCACCACCACCACCTCCA GCACCACCTCCACCACCACCTCCACCACCACCACCTCCAGCACCACCTCC ACCACCACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCAC CTCCAGCACCACCTCCACCACCACCTCCACCACCACCACCTCCAGC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0198 a0001c0001t0018g0198	1	148	0.0068	195	c.544 others(212): Show c.544-9960_544-9959insGCTGGAGGTGGTGGTGGTGGAGGTGGTG GTGGAGGTGGTGCTGGAGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTGGT GCTGGAGGTGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGTGGAGG TGGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGAG GTGGTGCTGGAGGTGGT	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361784	C C	CCACCTCC others(188): Show CCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACC ACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACTACCACCTC CAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCT CCACCACTACCACCTCCAGCACCACCTCCACCACTACCACCTCCAG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	219	0.0046	195	c.544 others(214): Show c.544-10977_544-10976insCTGGAGGTGGTAGTGGTGGAGGTGGT GCTGGAGGTGGTAGTGGTGGAGGTGGTGCTGGAGGTGGTAGTGGTGGAGG TGGTGGTGGAGGTGGTGCTGGAGGTGGTAGTGGTGGAGGTGGTGCTGGAG GTGGTAGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTAGTGGT GGAGGTGGTGGTGGAGGTG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FSCN2_chr17_81523377_81542130	81531336	A A	ATGGTGGT others(188): Show ATGGTGGTGGTGATGATGGTGGTGGTGATGGTGGTGATGGTGATGATGGT GATGGTGATGGTGGTGGTGATAGTGATGATGGAGATGGTGGTGATGGTGG TGGTGATGGTGATGATGGTGGTGGTGGTGATGGTGATGATGGTGATGGTG ATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	390	0.0026	195	c.826 others(212): Show c.826+1999_826+2000insGTGGTGATGGTGGTGATGGTGATGATGG TGATGGTGATGGTGGTGGTGATAGTGATGATGGAGATGGTGGTGATGGTG GTGGTGATGGTGATGATGGTGGTGGTGGTGATGGTGATGATGGTGATGGT GATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGGTGG TGGTGGTGATGATGGTG	FSCN2	ENSG00000186765.12	transcript	ENST00000417245.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
GAL3ST2_chr2_241771822_241809287	241806615	C C	CCCCCTCA others(188): Show CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCAC CCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACTCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	309	0.0032	195	c.24 others(206): Show c.2449_*2450insCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGG ACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGG CCACTCTCCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2329		chr2	TogoVar
GALR1_chr18_77244848_77282900	77252884	C C	CCACCATC others(188): Show CCACCATCACCACCACCACCACCACCATCACCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCAC CACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	350	0.0029	195	c.666 others(212): Show c.666+1675_666+1676insTCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCA CCACCACCATCACCACCACCACCATCACCACCATCACCACCACCACCATC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAC CACCACCACCATCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77252896	T T	TCACCACC others(188): Show TCACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACC ACCATCACCACCACCATCACCACCATCACCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCATCACCACCATCACCACCACCATCACCA CCATCACCACCACCACCACCACCACCACCACCACCACCACCATCAC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0020 a0002c0003t0020	a0002c0003t0020g0217 a0002c0003t0020g0217	1	279	0.0036	195	c.666 others(212): Show c.666+1708_666+1709insCCATCACCACCACCACCATCACCACCAT CACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCA CCATCACCACCACCACCATCACCACCATCACCACCACCATCACCACCATC ACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GAS6_chr13_113815549_113869076	113836850	G G	GGGGGAGG others(188): Show GGGGGAGGAGGAGGGGGAGTGGGGGGGAGGAGGAGGGGGGAGTGGGGGGG AGGAGGAGAAGAAAGAGGAGGAGGAAGATGGGGAGGAGGAGGAGGAAGAT GGGGAGGAGGAGGGGGAGTGGGGGGAGAGGAGGAGAAGAAAGAGGAGGAG GAAGATGGGGAGGAGGAGGAAGATGGGGAGGAGGAGGGGGAATGGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	4	0.2500	195	c.590 others(212): Show c.590-1216_590-1215insTCCATTCCCCCTCCTCCTCCCCATCTTC CTCCTCCTCCCCATCTTCCTCCTCCTCTTTCTTCTCCTCCTCTCCCCCCA CTCCCCCTCCTCCTCCCCATCTTCCTCCTCCTCCTCCCCATCTTCCTCCT CCTCTTTCTTCTCCTCCTCCCCCCCACTCCCCCCTCCTCCTCCCCCCCAC TCCCCCTCCTCCTCCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	6/14			chr13	TogoVar
GLIS2_chr16_4311067_4344595	4344533	T T	TGTGAGAG others(188): Show TGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGG ATTGTGTGAGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGG GGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGG AGGGGGTTCTGTGAGAGAAGGGGACTGTGTGAGAGGAGGGGGTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp2 HG02886.hp1 others(4): Show HG02486.hp1 HG02486.hp2 HG02886.hp1 HG03453.hp1 HG03471.hp1 HG06807.hp1 NA19043.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0144 others(3): Show a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0144 a0002c0003t0001g0168 a0002c0003t0001g0298 a0002c0003t0001g0299	7	382	0.0183	195	c.70 others(206): Show c.7009_*7010insGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTT CCGTGAGAGGAGGGGATTGTGTGAGAGGGGGTTCCGTGAGAGGAGGGGAC TGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGG GGATTGTGTGAGAGGAGGGGGTTCTGTGAGAGAAGGGGACTGTGTGAGAG GAGGGGGTTCC	GLIS2	ENSG00000126603.9	transcript	ENST00000433375.2	protein_coding		4939		chr16	TogoVar
GLT6D1_chr9_135618648_135644540	135620055	A A	ACTCCCCC others(188): Show ACTCCCCCGTCTCCCCCGTCTCCCCCTTTTCCCCCTACTCCCCCTTCTCC CCCATCTCCCCCTTCTCCCCCGTCTCCCCCATCTCCCCCTACTCCTTCTC CCCCTTCTCCCCCTTCCCCCTCTACTCCCCCTTCTCCCCCTACTCCCCCG TCTCCCCCTTCTCCCCCTTTTCCCCCTACTCCCCCTTCTCCCCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0193 a0001c0001t0002g0043 a0001c0001t0002g0193	2	414	0.0048	195	c.40 others(206): Show c.4041_*4042insATGGGGGAGAAGGGGGAGTAGGGGGAAAAGGGGG AGAAGGGGGAGACGGGGGAGTAGGGGGAGAAGGGGGAGTAGAGGGGGAAG GGGGAGAAGGGGGAGAAGGAGTAGGGGGAGATGGGGGAGACGGGGGAGAA GGGGGAGATGGGGGAGAAGGGGGAGTAGGGGGAAAAGGGGGAGACGGGGG AGACGGGGGAG	GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding		3592		chr9	TogoVar
GOLGA8A_chr15_34374068_34442808	34419422	C C	CTCTTTCT others(188): Show CTCTTTCTTTTCTTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTTCTTTTTCTTTCTTTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0025 a0004c0004t0025	a0004c0004t0025g0213 a0004c0004t0025g0213	1	241	0.0041	195	c.-11 others(218): Show c.-1122-11688_-1122-11687insAAGAAAGAAAAAGAAAGAAAAA GAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAAAGAAAAGAAAGA	GOLGA8A	ENSG00000175265.19	transcript	ENST00000359187.5	protein_coding	2/24			chr15	TogoVar
GRAMD1B_chr11_123425269_123632767	123457117	A A	AGAAAGAA others(188): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAG AAAGAAAGAAAGAAAGAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	119	0.0084	195	c.375 others(214): Show c.375-23699_375-23698insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19			chr11	TogoVar
GSE1_chr16_85608322_85681200	85653201	C C	CCCTCCTC others(188): Show CCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCT CTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTC CTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0273 a0001c0001t0061g0273	1	160	0.0063	195	c.427 others(212): Show c.427-1069_427-1068insTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCT CCTCCCCCTCCTCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GTPBP6_chrX_299759_323796	315827	C C	CACACACA others(188): Show CACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGAC ACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACA CAAACACATACACACGCAGACACACACACACACACACAAACAGTAAATAC ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0136	1	69	0.0145	195	c.488 others(210): Show c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT CTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCTG CGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTGT GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTG TGTGTGTGTGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
HERC6_chr4_88373852_88448097	88380374	T T	TATATATA others(188): Show TATATATAAATATATATATAATATATAAATATATATAATATATAAATATA TATATAATATATAAATATATATAATATATAAATATATATAATATATAAAT ATATATAATATATAAATATATAATATATAAATATATATAATATATAAATA TATAATATATAAATATATATAATATATAAATATATATATAATATAA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	87	0.0115	195	c.199 others(212): Show c.199+1261_199+1262insAATATATATATAATATATAAATATATAT AATATATAAATATATATATAATATATAAATATATATAATATATAAATATA TATAATATATAAATATATATAATATATAAATATATAATATATAAATATAT ATAATATATAAATATATAATATATAAATATATATAATATATAAATATATA TATAATATAAATATATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HIVEP1_chr6_12007312_12169999	12167581	C C	CATGTTAT others(188): Show CATGTTATATTACATGTATATATACATGTTATATTACATGTCATATATAC ATGTTATATTACATGTATATATACATGTTATATTACATGTATATATACAT GTTATATTACATGTATATATACATGTTATATTACATGTATATATACATGT TATATTACATGTATATATACATGTTATATTACATGTATATATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	4	0.2500	195	c.31 others(206): Show c.3120_*3121insATGTTATATTACATGTATATATACATGTTATATT ACATGTCATATATACATGTTATATTACATGTATATATACATGTTATATTA CATGTATATATACATGTTATATTACATGTATATATACATGTTATATTACA TGTATATATACATGTTATATTACATGTATATATACATGTTATATTACATG TATATATACAT	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding		2583		chr6	TogoVar

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