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
UBR7_chr14_93202256_93234215	93224276	A A	AAAAAAAA others(89): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAGAAAAAAAAAAAA AAAAAAAAAAAACCAACCAAAAAACACATCACACACGCGAGACAGAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0058 a0002c0002t0004g0058	1	408	0.0025	96	c.118 others(115): Show c.1185+1903_1185+1904insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAACAGAAAAAAAAAAAAAAAAAAAAAAAACCAACCAAAAAACACA TCACACACGCGAGACAGATA	UBR7	ENSG00000012963.15	transcript	ENST00000013070.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
UCN3_chr10_5359966_5379692	5370209	G G	GTATGTGC others(89): Show GTATGTGCGTGTGTATGTGCGTGTGTATGTGTGTGTATATGTGTGTATAT GTGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0110 a0002c0002t0008g0111 a0002c0002t0008g0110 a0002c0002t0008g0111	2	339	0.0059	96	c.-6- others(111): Show c.-6-3500_-6-3499insCGTGTGTATGTGCGTGTGTATGTGTGTGTA TATGTGTGTATATGTGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATA TGCGTGTGTATATGTG	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370211	A A	ATGTGTGT others(89): Show ATGTGTGTGTGTATGCGTGTGTGTATGCGTGTGTGTATGCGTGTGTATAT GCGTGTGTATGTGCGTGTGTATGTGCGTGTGTATGTGTGTGTGTATG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG04115.hp2 HG01433.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0251 a0001c0001t0007g0231 a0001c0001t0002g0251 a0001c0001t0007g0231	2	253	0.0079	96	c.-6- others(111): Show c.-6-3495_-6-3494insGTATGCGTGTGTGTATGCGTGTGTGTATGC GTGTGTATATGCGTGTGTATGTGCGTGTGTATGTGCGTGTGTATGTGTGT GTGTATGTGTGTGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370214	T T	TGTGTGTA others(89): Show TGTGTGTATATGCGTGTGTGTATGCGTGTGTGTATGCGTGTGTATATGCG TGTGTATGTGCGTGTGTATGTGCGTGTGTATGTGTGTGTGTATATGC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02897.hp2 HG02717.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	2	435	0.0046	96	c.-6- others(111): Show c.-6-3493_-6-3492insATGCGTGTGTGTATGCGTGTGTGTATGCGT GTGTATATGCGTGTGTATGTGCGTGTGTATGTGCGTGTGTATGTGTGTGT GTATATGCGTGTGTAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370233	G G	GTATGCGT others(89): Show GTATGCGTGTGTGTATGCGTGTGTATATGCGTGTGTATATGCGTGTGTAT GTGCGTGTGTATGTGTGTGTGTATGTGTGTGTGTATATGCGTGTGTA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02818.hp2 HG03453.hp2 HG01255.hp2 HG02818.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0234 a0001c0001t0002g0031 a0001c0001t0002g0234	3	238	0.0126	96	c.-6- others(111): Show c.-6-3433_-6-3432insGTGCGTGTGTATGTGTGTGTGTATGTGTGT GTGTATATGCGTGTGTATATGCGTGTGTGTATGCGTGTGTATATGCGTGT GTATATGCGTGTGTAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370252	T T	TGTGTGTA others(89): Show TGTGTGTATATGTGTGTGTGTATGTGTGTGTATATGTGTGTGTGTATATG CGTGTGTATATGCGTGTATATGCGTGTATATGTGTGTGTGTATATGC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18980.hp2 NA18998.hp1 others(1): Show NA18969.hp2 NA18980.hp2 NA18998.hp1 NA19006.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0206 a0002c0002t0004g0207 a0002c0002t0004g0217 others(1): Show a0002c0002t0004g0206 a0002c0002t0004g0207 a0002c0002t0004g0217 a0002c0002t0004g0229	4	447	0.0089	96	c.-6- others(111): Show c.-6-3459_-6-3458insGTATATGTGTGTGTGTATGTGTGTGTATAT GTGTGTGTGTATATGCGTGTGTATATGCGTGTATATGCGTGTATATGTGT GTGTGTATATGCGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370404	T T	TATATGTG others(89): Show TATATGTGTGTGTATGCGTGTGTATATGCGTGTATATGCGTGTGTATATG CGTGTGTATGTGCGTGTGTATGTGCGTGTATATGTGTGTGTATGTGC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0068 a0002c0002t0002g0068	1	462	0.0022	96	c.-6- others(111): Show c.-6-3311_-6-3310insATATGTGTGTGTATGCGTGTGTATATGCGT GTATATGCGTGTGTATATGCGTGTGTATGTGCGTGTGTATGTGCGTGTAT ATGTGTGTGTATGTGC	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1			chr10	TogoVar
UCN3_chr10_5359966_5379692	5370572	C C	CGTGTGTA others(89): Show CGTGTGTATATGTGTGTGTATATGTGTGTGTGTATGTGTGTGTGTATGCG TGTGTATATGCGTGTGTGTATGCGTGTGTATATGCGTGTGTATATGT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0347 a0002c0002t0003g0347	1	377	0.0027	96	c.-6- others(111): Show c.-6-3139_-6-3138insGTATATGTGTGTGTATATGTGTGTGTGTAT GTGTGTGTGTATGCGTGTGTATATGCGTGTGTGTATGCGTGTGTATATGC GTGTGTATATGTGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
ULK1_chr12_131889622_131928150	131917167	C C	CGGAGGCT others(89): Show CGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG03688.hp2 HG01981.hp2 HG03688.hp2	a0001 a0001	a0001c0010 a0001c0030 a0001c0010 a0001c0030	a0001c0010t0004 a0001c0030t0002 a0001c0010t0004 a0001c0030t0002	a0001c0010t0004g0208 a0001c0030t0002g0199 a0001c0010t0004g0208 a0001c0030t0002g0199	2	69	0.0290	96	c.218 others(113): Show c.2182+106_2182+107insGAGGCTGTGGGATGGGGGTCGGGTGGGG CTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGG GGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917214	G G	GGGGTTGG others(89): Show GGGGTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGG ATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0169 a0001c0006t0003g0169	1	340	0.0029	96	c.218 others(113): Show c.2182+154_2182+155insGTTGGAGGCTGTGGGACGGGGGTCGGGT GGGGCTTGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GACGGGGGTCGGGTTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UPF3A_chr13_114276601_114310817	114295302	G G	GCTGGCCT others(89): Show GCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGC TCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02922.hp2 HG02970.hp2 HG01496.hp2 HG02922.hp2 HG02970.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0116 a0004c0004t0003g0188 a0004c0004t0003g0189 a0004c0004t0003g0116 a0004c0004t0003g0188 a0004c0004t0003g0189	3	403	0.0074	96	c.847 others(113): Show c.847-3510_847-3509insGGCTCTGGCGTGCTCCCCAGCTCGTCTC CAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCT CCCCAGCTCGTCTCCAGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295302	G G	GCTGGCGT others(89): Show GCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGC TCGTCTCCAGCAGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18948.hp1 NA18952.hp1 HG02451.hp2 NA18948.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0165 a0001c0001t0001g0304 a0001c0001t0012g0164 a0001c0001t0001g0165 a0001c0001t0001g0304 a0001c0001t0012g0164	3	403	0.0074	96	c.846 others(113): Show c.846+3515_846+3516insGTGCTCCCCAGCTCGTCTCCAGCGGCTC TGGCGTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCCTGCTCCCCAGCTC GTCTCCAGCGGCTCTGGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295302	G G	GCTGGCGT others(89): Show GCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGC TCGTCTCCAGCAGTTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	401	0.0025	96	c.846 others(113): Show c.846+3515_846+3516insGTGCTCCCCAGCTCGTCTCCAGCGGCTC TGGCGTGCTCCCCAGCTCGTCTCCAGCAGTTCTGGCGTGCTCCCCAGCTC GTCTCCAGCGGCTCTGGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295308	C C	CTGCTCCC others(89): Show CTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCT CCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCG	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	346	0.0029	96	c.847 others(113): Show c.847-3510_847-3509insGGCTCTGGCGTGCTCCCCAGCTCGTCTC CAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCT CCCCAGCTCGTCTCCAGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295308	C C	GTGCTCCC others(89): Show GTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCT CCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCC	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19070.hp2 NA19090.hp1 NA19058.hp2 NA19070.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091	3	348	0.0086	96	c.846 others(113): Show c.846+3515_846+3516insGTGCTCCCCAGCTCGTCTCCAGCGGCTC TGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTC GTCTCCAGCGGCTCTGGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9			chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295331	A A	AGCTCTGG others(89): Show AGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCGTGCTCCCC AGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCG	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	304	0.0033	96	c.847 others(113): Show c.847-3478_847-3477insAGCTCTGGCGTGCTCCCCAGCTCGTCTC CAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCT CCCCAGCTCGTCTCCAGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295331	A A	AGCTCTGG others(89): Show AGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCC AGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	304	0.0033	96	c.847 others(113): Show c.847-3437_847-3436insCTGCTCCCCAGCTCGTCTCCAGCGGCTC TGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTC GTCTCCAGCGGCTCTGGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295331	A A	AGCTCTGG others(89): Show AGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCC AGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG03654.hp1 NA18965.hp2 others(1): Show HG02129.hp2 HG03654.hp1 NA18965.hp2 NA20905.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0013 a0001c0001 a0010c0013	a0001c0001t0001 a0010c0013t0001 a0001c0001t0001 a0010c0013t0001	a0001c0001t0001g0035 a0001c0001t0001g0249 a0001c0001t0001g0276 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0249 a0001c0001t0001g0276 a0010c0013t0001g0035	4	307	0.0130	96	c.847 others(113): Show c.847-3495_847-3400dupCCCCAGCTCGTCTCCAGCGGCTCTGGCG TGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTC CAGCGGCTCTGGCCTGCT	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295340	C C	CTGCTCCC others(89): Show CTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCCTGCTCCCCAGCTCGTCT CCAGCAGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0371 a0001c0001t0001g0371	1	349	0.0029	96	c.847 others(113): Show c.847-3478_847-3477insAGCTCTGGCCTGCTCCCCAGCTCGTCTC CAGCAGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCT CCCCAGCTCGTCTCCAGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295340	C C	CTGCTCCC others(89): Show CTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCGTGCTCCCCAGCTCGTCT CCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCG	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19030.hp2 HG03130.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	2	350	0.0057	96	c.847 others(113): Show c.847-3478_847-3477insAGCTCTGGCGTGCTCCCCAGCTCGTCTC CAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCT CCCCAGCTCGTCTCCAGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295340	C C	CTGCTCCC others(89): Show CTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCT CCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0349 a0002c0002t0001g0349	1	349	0.0029	96	c.847 others(113): Show c.847-3469_847-3468insCTGCTCCCCAGCTCGTCTCCAGCGGCTC TGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTC GTCTCCAGCGGCTCTGGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295340	C C	CTGCTCCC others(89): Show CTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCT CCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03209.hp2 NA19240.hp2 HG00609.hp1 HG03209.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0257 a0002c0002t0001g0215 a0002c0002t0001g0220 a0001c0001t0001g0257 a0002c0002t0001g0215 a0002c0002t0001g0220	3	351	0.0085	96	c.847 others(113): Show c.847-3437_847-3436insCTGCTCCCCAGCTCGTCTCCAGCGGCTC TGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTC GTCTCCAGCGGCTCTGGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295340	C C	CTGCTCCC others(89): Show CTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCT CCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	349	0.0029	96	c.847 others(113): Show c.847-3405_847-3404insGTGCTCCCCAGCTCGTCTCCAGCGGCTC TGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTC GTCTCCAGCGGCTCTGGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295340	C C	GTGCTCCC others(89): Show GTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCT CCAGCAGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0006 a0005c0006t0006	a0005c0006t0006g0219 a0005c0006t0006g0219	1	349	0.0029	96	c.847 others(113): Show c.847-3501_847-3500insGTGCTCCCCAGCTCGTCTCCAGCGGCTC TGGCCTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCGTGCTCCCCAGCTC GTCTCCAGCGGCTCTGGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9			chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295363	G G	GGCTCTGG others(89): Show GGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCCTGCTCCCC AGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0115 a0001c0001t0013g0115	1	439	0.0023	96	c.847 others(113): Show c.847-3446_847-3445insAGCTCTGGCCTGCTCCCCAGCTCGTCTC CAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCGTGCT CCCCAGCTCGTCTCCAGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295372	G G	GTGCTCCC others(89): Show GTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCCTGCTCCCCAGCTCGTCT CCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCC	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18942.hp1 NA18959.hp1 others(4): Show NA18940.hp2 NA18942.hp1 NA18959.hp1 NA18962.hp2 NA18989.hp2 NA18994.hp1 NA19057.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0118 a0002c0002t0001g0125 a0003c0003t0001g0071 others(4): Show a0002c0002t0001g0118 a0002c0002t0001g0125 a0003c0003t0001g0071 a0003c0003t0001g0117 a0003c0003t0001g0123 a0003c0003t0001g0126 a0003c0003t0001g0127	7	293	0.0239	96	c.847 others(113): Show c.847-3446_847-3445insAGCTCTGGCCTGCTCCCCAGCTCGTCTC CAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCCTGCT CCCCAGCTCGTCTCCAGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295372	G G	GTGCTCCC others(89): Show GTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCCTGCTCCCCAGCTCGTCT CCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCC	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0010 a0003c0003t0001g0010	1	287	0.0035	96	c.847 others(113): Show c.847-3446_847-3445insAGCTCTGGCCTGCTCCCCAGCTCGTCTC CAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCT CCCCAGCTCGTCTCCAGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295372	G G	GTGCTCCC others(89): Show GTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCT CCAGCAGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0228 a0002c0002t0001g0228	1	287	0.0035	96	c.847 others(113): Show c.847-3437_847-3436insCTGCTCCCCAGCTCGTCTCCAGCAGCTC TGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTC GTCTCCAGCGGCTCTGGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295372	G G	GTGCTCCC others(89): Show GTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCT CCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCC	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19043.hp2 NA19058.hp1 HG03471.hp1 NA19043.hp2 NA19058.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0003 a0001c0001t0001 a0004c0004t0003	a0001c0001t0001g0041 a0001c0001t0001g0327 a0004c0004t0003g0190 a0001c0001t0001g0041 a0001c0001t0001g0327 a0004c0004t0003g0190	3	289	0.0104	96	c.847 others(113): Show c.847-3437_847-3436insCTGCTCCCCAGCTCGTCTCCAGCGGCTC TGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTC GTCTCCAGCGGCTCTGGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295372	G G	GTGCTCCC others(89): Show GTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCT CCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	287	0.0035	96	c.847 others(113): Show c.847-3437_847-3436insCTGCTCCCCAGCTCGTCTCCAGCGGCTC TGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTC GTCTCCAGCGGCTCTGGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295372	G G	GTGCTCCC others(89): Show GTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCT CCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01928.hp1 HG02004.hp2 HG00558.hp2 HG01928.hp1 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0260 a0001c0001t0001g0003 a0001c0001t0001g0260	3	289	0.0104	96	c.847 others(113): Show c.847-3400_847-3399insCCCCAGCTCGTCTCCAGCGGCTCTGGCC TGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTC CAGCGGCTCTGGCCTGCT	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295372	G G	GTGCTCCC others(89): Show GTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCT CCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG01358.hp1 others(3): Show HG00099.hp2 HG00323.hp2 HG01358.hp1 HG02572.hp1 HG02622.hp2 HG02886.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0315 a0001c0001t0001g0333 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0315 a0001c0001t0001g0333 a0002c0002t0001g0028 a0002c0002t0001g0231	6	292	0.0205	96	c.847 others(113): Show c.847-3405_847-3404insGTGCTCCCCAGCTCGTCTCCAGCGGCTC TGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTC GTCTCCAGCGGCTCTGGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295404	G G	GTGCTCCC others(89): Show GTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCT CCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02109.hp1 HG01346.hp2 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0336 a0001c0001t0001g0141 a0001c0001t0001g0336	2	274	0.0073	96	c.847 others(113): Show c.847-3400_847-3399insCCCCAGCTCGTCTCCAGCGGCTCTGGCG TGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTC CAGCGGCTCTGGCCTGCT	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPK3A_chr22_45279949_45300874	45282130	A A	AGAAGGAA others(89): Show AGAAGGAAGGAAGGAGAAAGAAAGAAGGAAGGAAAGAAAGGAAGGAAGGA AGGTAGAAAGAAAGAAAGAAAGAAAGACAAAGAAAGAAGAAAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG03098.hp1 NA21309.hp2 HG02818.hp2 HG03098.hp1 NA21309.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0172 a0001c0011t0002g0173 a0001c0011t0002g0174 a0001c0011t0002g0172 a0001c0011t0002g0173 a0001c0011t0002g0174	3	329	0.0091	96	c.-28 others(107): Show c.-2884_-2883insGAAGGAAGGAAGGAGAAAGAAAGAAGGAAGGAAA GAAAGGAAGGAAGGAAGGTAGAAAGAAAGAAAGAAAGAAAGACAAAGAAA GAAGAAAGAGAG	UPK3A	ENSG00000100373.10	transcript	ENST00000216211.9	protein_coding		2818		chr22	TogoVar
UPK3A_chr22_45279949_45300874	45282183	T T	TAGAAAGA others(89): Show TAGAAAGAAAGAAAGAAGGACAAAGAAAGAAGAAAGAGAGGAAGGAAGGA AGGAGAAAGAAAGAAGGAAGGAAAGAAAGGAAGGAAGGAAGGTAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0087	1	234	0.0043	96	c.-28 others(107): Show c.-2831_-2830insAGAAAGAAAGAAAGAAGGACAAAGAAAGAAGAAA GAGAGGAAGGAAGGAAGGAGAAAGAAAGAAGGAAGGAAAGAAAGGAAGGA AGGAAGGTAGAA	UPK3A	ENSG00000100373.10	transcript	ENST00000216211.9	protein_coding		2765		chr22	TogoVar
URAD_chr13_27972717_27993693	27991328	G G	GGTATATG others(89): Show GGTATATGTATAGGTATAGGTATAGTTATATGTATATGTATAGGTGTAGG TGTAGGTATAGTTATAGGTATAGGTATAGGTATATGTATAGGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG03516.hp1 HG02559.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	2	421	0.0048	96	c.-26 others(107): Show c.-2692_-2691insATATACCTATACATATACCTATACCTATACCTAT AACTATACCTACACCTACACCTATACATATACATATAACTATACCTATAC CTATACATATAC	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2636		chr13	TogoVar
URB2_chr1_229621247_229665200	229628191	A A	ATATATAT others(89): Show ATATATATGTATATATATTATACATATACATATTATATATGTATATATAT TATACATATACATATTATATATGTATATATATTATACATATACATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02145.hp2 HG02451.hp2 others(1): Show HG00140.hp1 HG02145.hp2 HG02451.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0117 a0001c0001t0004g0209 a0001c0001t0006g0110 others(1): Show a0001c0001t0004g0117 a0001c0001t0004g0209 a0001c0001t0006g0110 a0001c0001t0006g0210	4	225	0.0178	96	c.126 others(111): Show c.126+510_126+511insTATTATACATATACATATTATATATGTATA TATATTATACATATACATATTATATATGTATATATATTATACATATACAT ATTATATATGTATATA	URB2	ENSG00000135763.10	transcript	ENST00000258243.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
UROC1_chr3_126476166_126522773	126516517	A A	ACCCCCCA others(89): Show ACCCCCCAGTGCCCACCACCTACCCTCCCCCCTCCCCCCAGTGCCCACTA CCTACCATCCCCCCTCCCCCCAGTGCCCACCACCTACCCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	377	0.0027	96	c.126 others(113): Show c.126+1076_126+1077insAGGGGGGAGGGTAGGTGGTGGGCACTGG GGGGAGGGGGGATGGTAGGTAGTGGGCACTGGGGGGAGGGGGGAGGGTAG GTGGTGGGCACTGGGGGG	UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding	1/19			chr3	TogoVar
USH2A_chr1_215617891_216428448	216355305	C C	CAGAAAGA others(89): Show CAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0055 a0055	a0055c0047 a0055c0047	a0055c0047t0003 a0055c0047t0003	a0055c0047t0003g0017 a0055c0047t0003g0017	1	72	0.0139	96	c.784 others(113): Show c.784+9647_784+9648insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCT	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	4/71			chr1	TogoVar
USP14_chr18_153557_219629	219172	C C	CAAAATAA others(89): Show CAAAATAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAA AGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02486.hp1 NA18985.hp1 others(2): Show HG02451.hp2 HG02486.hp1 NA18985.hp1 NA18995.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0039 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0039 a0001c0002t0040	a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0004g0022 others(2): Show a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0004g0022 a0001c0001t0039g0225 a0001c0002t0040g0170	5	28	0.1786	96	c.78 others(107): Show c.7888_*7889insAAAATAACCAGTGAGGATGGCATATACTCTTAAT AATAAATACTCATAAAGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCC CTGAGCGGTACA	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding		4544		chr18	TogoVar
USP14_chr18_153557_219629	219265	T T	TACAAAAA others(89): Show TACAAAAATAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCA TAAAGTGGTGGCAGGACAAGATTCTGGGCATGTGTTCCCTGAGCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0238 a0001c0001t0011g0238	1	376	0.0027	96	c.79 others(107): Show c.7981_*7982insACAAAAATAACCAGTGAGGATGGCATATACTCTT AATAATAAATACTCATAAAGTGGTGGCAGGACAAGATTCTGGGCATGTGT TCCCTGAGCGGC	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding		4637		chr18	TogoVar
USP30_chr12_109047576_109093023	109055400	A A	ATATATAT others(89): Show ATATATATATACATATATATATATATATACATATATATATATATACATAT ATATATATATATACATATATATATATATATATAATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	116	0.0086	96	c.84- others(111): Show c.84-1281_84-1280insATATATATACATATATATATATATATACAT ATATATATATATACATATATATATATATATACATATATATATATATATAT AATTTTTTTTTTTTTT	USP30	ENSG00000135093.13	transcript	ENST00000257548.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
USP30_chr12_109047576_109093023	109055400	A A	ATATATAT others(89): Show ATATATATATACATATATATATATATATACATATATATATATATACATAT ATATATATATATATATACATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	116	0.0086	96	c.84- others(111): Show c.84-1281_84-1280insATATATATACATATATATATATATATACAT ATATATATATATACATATATATATATATATATATACATATATATATATAT ATATATATTTTTTTTT	USP30	ENSG00000135093.13	transcript	ENST00000257548.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
USP30_chr12_109047576_109093023	109055400	A A	ATATATAT others(89): Show ATATATATATACATATATATATATATATATACATATATATATATATACAT ATATATATATATATATACATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp2 HG02818.hp2 HG02280.hp2 HG02486.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0139 a0001c0001t0001g0165 a0001c0001t0001g0004 a0001c0001t0001g0139 a0001c0001t0001g0165	3	118	0.0254	96	c.84- others(111): Show c.84-1281_84-1280insATATATATACATATATATATATATATATAC ATATATATATATATACATATATATATATATATATACATATATATATATAT ATATATATTTTTTTTT	USP30	ENSG00000135093.13	transcript	ENST00000257548.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
USP7_chr16_8887097_8968906	8951266	T T	TCTGTCAG others(89): Show TCTGTCAGGGAAACAGGCCCACATGGAAAATATTCAAAATATGCCACAAA AACAATAAATACCACACAGCCAGCTACAAGTTAATGAAGCAAGGAGA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01346.hp1 HG02300.hp2 HG01257.hp2 HG01346.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0097 a0001c0001t0001g0142 a0001c0001t0001g0143	3	33	0.0909	96	c.79+ others(113): Show c.79+11940_79+11941insTCTCCTTGCTTCATTAACTTGTAGCTGG CTGTGTGGTATTTATTGTTTTTGTGGCATATTTTGAATATTTTCCATGTG GGCCTGTTTCCCTGACAG	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	1/30			chr16	TogoVar
USP7_chr16_8887097_8968906	8951266	T T	TCTGTCAG others(89): Show TCTGTCAGGGAAAGAGGCCCACATGGAAAATATTCAAAATATGCCACAAA AACAATAAATACCACACAGCCAGCTACAAGTTAATGAAGCAAGGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(300): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0002c0007 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0002c0007t0001 a0003c0004t0005	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(289): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0004g0232 a0001c0001t0004g0234 a0001c0001t0004g0275 a0001c0001t0005g0110 a0001c0001t0007g0261 a0001c0001t0007g0262 a0001c0001t0009g0011 a0001c0001t0010g0284 a0001c0001t0011g0066 a0001c0001t0013g0058 a0001c0001t0014g0140 a0001c0001t0015g0055 a0001c0001t0016g0052 a0001c0001t0017g0226 a0001c0001t0018g0169 a0001c0001t0019g0172 a0001c0001t0020g0025 a0001c0001t0021g0151 a0001c0001t0022g0046 a0001c0001t0023g0057 a0001c0001t0025g0311 a0001c0001t0026g0318 a0001c0001t0027g0323 a0001c0001t0028g0324 a0001c0001t0029g0325 a0001c0001t0030g0326 a0001c0002t0001g0089 a0001c0002t0001g0120 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0141 a0001c0002t0001g0225 a0001c0002t0001g0237 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0005t0001g0176 a0001c0006t0001g0168 a0002c0007t0001g0036 a0003c0004t0005g0022	303	333	0.9099	96	c.79+ others(113): Show c.79+11940_79+11941insTCTCCTTGCTTCATTAACTTGTAGCTGG CTGTGTGGTATTTATTGTTTTTGTGGCATATTTTGAATATTTTCCATGTG GGCCTCTTTCCCTGACAG	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	1/30			chr16	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(89): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	27	0.0370	96	c.205 others(113): Show c.205-6028_205-6027insCCTTCCTTCCTTCCTTCCTTCCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCTTTCTTTCTTTCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(89): Show CCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	27	0.0370	96	c.205 others(113): Show c.205-6028_205-6027insCCTTCCTTCCTTCCTTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCTTTCTTTCTTTCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(89): Show CCTTCCTTCCTTCCTTTCTTTCTTCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCCTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	27	0.0370	96	c.205 others(113): Show c.205-6028_205-6027insCCTTCCTTCCTTTCTTTCTTCCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCCTTC TTTCTTTCTTTCTTTCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV2_chr9_133756894_133997324	133827187	G G	GGGCTGAC others(89): Show GGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGAG GCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0081 a0001c0006t0002g0081	1	194	0.0052	96	c.449 others(113): Show c.449+7084_449+7085insTCAGTGGGCGCAGCGGTAGGTGGTGATG CCCGTGCTCAGTGGTCAGCCTCAGTGGGCGCAGCGGTAGGTGGTGATGCC CGTGCTCAGTGGTCAGCC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar

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