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
ZNF365_chr10_62369369_62407450	62371269	C C	CATATATA others(170): Show CATATATATATCATATATATGATATATATCTCATATATATATCATATATA TGATATATATCTCATATATATATCATATATATGATATATATCTCATATAT ATATCATATATATGATATATATCTCATATATATATCATATATATGATATA TATCTCATATATCTATCATATATATGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	350	0.0029	177	c.-32 others(188): Show c.-3203_-3202insATATATATATCATATATATGATATATATCTCATA TATATATCATATATATGATATATATCTCATATATATATCATATATATGAT ATATATCTCATATATATATCATATATATGATATATATCTCATATATATAT CATATATATGATATATATCTCATATATCTATCATATATATGAG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3099		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62371269	C C	CATATATA others(170): Show CATATATATATCATATATATGATATATATCTCATATATATATCATATATA TGATATATATCTCATATATCTATCATATATATGATATATATCTCATATAT CTATCATATATATGATATATATCTCATATATCTATCATATATATGATATA TATCTCATATATCTATCATATATATGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	350	0.0029	177	c.-32 others(188): Show c.-3203_-3202insATATATATATCATATATATGATATATATCTCATA TATATATCATATATATGATATATATCTCATATATCTATCATATATATGAT ATATATCTCATATATCTATCATATATATGATATATATCTCATATATCTAT CATATATATGATATATATCTCATATATCTATCATATATATGAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3099		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62371269	C C	CATATATA others(170): Show CATATATATATCATATATATGATATATATCTCATATATCTATCATATATA TGATATATATCTCATATATCTATCATATATATGATATATATCTCATATAT CTATCATATATATGATATATATCTCATATATCTATCATATATATGATATA TATCTCATATATCTATCATATATATGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	350	0.0029	177	c.-32 others(188): Show c.-3203_-3202insATATATATATCATATATATGATATATATCTCATA TATCTATCATATATATGATATATATCTCATATATCTATCATATATATGAT ATATATCTCATATATCTATCATATATATGATATATATCTCATATATCTAT CATATATATGATATATATCTCATATATCTATCATATATATGAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3099		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62371269	C C	CATATATA others(170): Show CATATATATATCGTATATATGATATATATCTCATATATATATCATATATA TGATATATATCTCATATATATATCATATATATGATATATATCTCATATAT ATATCATATATATGATATATATCTCATATATATATCATATATATGAGATA TATCTCATATATATATCATATATATGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	350	0.0029	177	c.-32 others(188): Show c.-3203_-3202insATATATATATCGTATATATGATATATATCTCATA TATATATCATATATATGATATATATCTCATATATATATCATATATATGAT ATATATCTCATATATATATCATATATATGATATATATCTCATATATATAT CATATATATGAGATATATCTCATATATATATCATATATATGAG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3099		chr10	TogoVar
ZNF512B_chr20_63951704_63974930	63970942	C C	CCTTCCTT others(170): Show CCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCCTCCCTCCCT TCCTCCCTTCCTTCTCTTCCTTCCCTTACCTTCCTCCCTCCCTTCTTCCT TCCTTTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCT TCCCTCCCTCCCTACCTCCCTTCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0022 a0001c0003t0001g0022	1	356	0.0028	177	c.-11 others(188): Show c.-1132_-1131insAGAAGGAAGGGAGGTAGGGAGGGAGGGAAGAGAA GAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAAG AAGGGAGGGAGGAAGGTAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGAG GGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGAAGGAAG	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding		1013		chr20	TogoVar
ZNF787_chr19_56082366_56126295	56105887	G G	GCCGCGCC others(170): Show GCCGCGCCCACGGCAGTCACCGCGCACTCCGCCCTCCGCGCCCACGGCAG TCACCGCGCATTCCCCCCTCCGCGCCCACGACAGTCACCGCGCATTCCCC CCTCCGCGCCCACGGCAGTCACCGCGCATTCCCCCCTCCGCGCCCACGGC AGTCACCGCGCATTCCGCATTCCCCCCT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18989.hp2 NA19070.hp2 NA18952.hp2 NA18989.hp2 NA19070.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0005 a0002c0003 a0004c0005	a0002c0003t0026 a0004c0005t0020 a0002c0003t0026 a0004c0005t0020	a0002c0003t0026g0044 a0002c0003t0026g0045 a0004c0005t0020g0026 a0002c0003t0026g0044 a0002c0003t0026g0045 a0004c0005t0020g0026	3	410	0.0073	177	c.-10 others(194): Show c.-10-2661_-10-2660insAGGGGGGAATGCGGAATGCGCGGTGACT GCCGTGGGCGCGGAGGGGGGAATGCGCGGTGACTGCCGTGGGCGCGGAGG GGGGAATGCGCGGTGACTGTCGTGGGCGCGGAGGGGGGAATGCGCGGTGA CTGCCGTGGGCGCGGAGGGCGGAGTGCGCGGTGACTGCCGTGGGCGCGG	ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	1/2			chr19	TogoVar
ZNF787_chr19_56082366_56126295	56105981	T T	TTCCCCCC others(170): Show TTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCGCATTCCCCCCT CCGCGCCCACGGCAGTCACCGCGCATTCCGCCCTCCGCGCCCACGGCAGT CACCGCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCCCC CTCCGCGCCCACGGCAGTCACCGCGCAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp2 HG02559.hp1 others(1): Show HG01109.hp1 HG02257.hp2 HG02559.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0002c0007 a0001c0010 a0002c0007	a0001c0010t0024 a0002c0007t0050 a0002c0007t0057 a0001c0010t0024 a0002c0007t0050 a0002c0007t0057	a0001c0010t0024g0059 a0001c0010t0024g0060 a0002c0007t0050g0064 others(1): Show a0001c0010t0024g0059 a0001c0010t0024g0060 a0002c0007t0050g0064 a0002c0007t0057g0063	4	410	0.0098	177	c.-10 others(194): Show c.-10-2755_-10-2754insTTGCGCGGTGACTGCCGTGGGCGCGGAG GGGGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGAATGCGCGGTG ACTGCCGTGGGCGCGGAGGGCGGAATGCGCGGTGACTGCCGTGGGCGCGG AGGGGGGAATGCGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGA	ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	1/2			chr19	TogoVar
ZNF791_chr19_12605920_12638834	12621766	T T	TGGGGGTG others(170): Show TGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA21309.hp1 NA18522.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0216 a0001c0001t0038g0221 a0001c0001t0038g0216 a0001c0001t0038g0221	2	382	0.0052	177	c.4-1 others(190): Show c.4-1929_4-1928insTGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG	ZNF791	ENSG00000173875.14	transcript	ENST00000343325.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZSCAN22_chr19_58321994_58347332	58326569	G G	GCCTCACA others(170): Show GCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCTC TCACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCA CACAGGCACCCTCAGCCTCACACAGGCACCCTCAGCCCTCACACAGCCAA CCCCATCCCTCACACAGGCACCCTCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA19059.hp2 NA18974.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	400	0.0050	177	c.-59 others(186): Show c.-597_-596insCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAG GCACCCTCAGCTCTCACACAGGCACCCTCAGCCCTCACACAGCCGCCCTC ACCCTCAGCCTCACACAGGCACCCTCAGCCTCACACAGGCACCCTCAGCC CTCACACAGCCAACCCCATCCCTCACACAGGCACCCTCAGC	ZSCAN22	ENSG00000182318.6	transcript	ENST00000329665.5	protein_coding		424		chr19	TogoVar
ZSCAN22_chr19_58321994_58347332	58326636	G G	GCCCTCAC others(170): Show GCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCT CTCACACAGGCACCCTCAGCCCTCACACAGCCAACCCCATCCCTCACACA GGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGC ACCCTCAGCTCTCACACAGGCACCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	400	0.0025	177	c.-53 others(186): Show c.-530_-529insCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACA GGCACCCTCAGCTCTCACACAGGCACCCTCAGCCCTCACACAGCCAACCC CATCCCTCACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCA GCCTCACACAGGCACCCTCAGCTCTCACACAGGCACCCTCA	ZSCAN22	ENSG00000182318.6	transcript	ENST00000329665.5	protein_coding		357		chr19	TogoVar
A2M_chr12_9062708_9120919	9093829	G G	GGCGGGTG others(171): Show GGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGA TGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTGGTG GCGGGCGCCTGCAGTCCCAGCTACTTGGGAGGCTGACGCAGGAAAATGGC GTGAACCCGGGAGGCAGAGCTTGTAGTAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02647.hp1 HG02809.hp1 others(5): Show HG02145.hp2 HG02647.hp1 HG02809.hp1 HG02970.hp2 HG03130.hp2 HG03540.hp2 NA18906.hp1 NA19240.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0009 a0010c0019 a0001c0001 a0001c0009 a0010c0019	a0001c0001t0002 a0001c0001t0003 a0001c0009t0002 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0009t0002 a0010c0019t0002	a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 others(5): Show a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0003g0037 a0001c0009t0002g0082 a0001c0009t0002g0083 a0010c0019t0002g0043	8	332	0.0241	178	c.212 others(195): Show c.2126-251_2126-250insTTACTACAAGCTCTGCCTCCCGGGTTCA CGCCATTTTCCTGCGTCAGCCTCCCAAGTAGCTGGGACTGCAGGCGCCCG CCACCACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTC ATCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGC	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding	17/35			chr12	TogoVar
ABR_chr17_998519_1184981	1143169	G G	GGGGGACA others(171): Show GGGGGACAGCTCGCTCCTGGGGACAGCTCGCTCCTGGGGGACAGCTCGCT CCTGGGGGGCAGCTCGCTCCTGGGGGACAGCTCGCTCCTGGGGGGCAGCT CGCTCCTGGGGGACAGCTCATTCCTGGGGGACAGCTCGCTCCTGGGGGAC AGCTCGCTCCTGGGGGACAGCTCATTCCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0116 a0001c0001t0029g0116	1	337	0.0030	178	c.62- others(195): Show c.62-17803_62-17802insAGGAATGAGCTGTCCCCCAGGAGCGAGC TGTCCCCCAGGAGCGAGCTGTCCCCCAGGAATGAGCTGTCCCCCAGGAGC GAGCTGCCCCCCAGGAGCGAGCTGTCCCCCAGGAGCGAGCTGCCCCCCAG GAGCGAGCTGTCCCCCAGGAGCGAGCTGTCCCCAGGAGCGAGCTGTCCCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACACB_chr12_109111587_109273226	109210235	A A	ATATATAC others(171): Show ATATATACACACACGTGTGTATATGTATATATACACACACGTGTGTATAT GTATATATACACACACGTGTGTATATGTATATATACACACACGTGTGTAT ATGTATATATACACACACGTGTGTATATGTATATATACACACACGTGTGT ATATGTATATATACACACATATCTGTGTG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0097 a0002c0097	a0002c0097t0003 a0002c0097t0003	a0002c0097t0003g0124 a0002c0097t0003g0124	1	308	0.0033	178	c.324 others(195): Show c.3249+887_3249+888insACACACACGTGTGTATATGTATATATAC ACACACGTGTGTATATGTATATATACACACACGTGTGTATATGTATATAT ACACACACGTGTGTATATGTATATATACACACACGTGTGTATATGTATAT ATACACACACGTGTGTATATGTATATATACACACATATCTGTGTGTATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109210255	A A	ATGTGTGT others(171): Show ATGTGTGTATATGTATATATGTACATATACACACATGTGTGTATATGTAC ATATACACACATGTGTGTATATGTACATATACACACATGTGTGTATATGT ACATATACACACATATCTGTGTGTATATGTACATATACACACATATCTGT GTGTATATGTATATATACACACACATATC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0003 a0002c0028t0003	a0002c0028t0003g0228 a0002c0028t0003g0228	1	308	0.0033	178	c.324 others(195): Show c.3249+916_3249+917insTATATGTACATATACACACATGTGTGTA TATGTACATATACACACATGTGTGTATATGTACATATACACACATGTGTG TATATGTACATATACACACATATCTGTGTGTATATGTACATATACACACA TATCTGTGTGTATATGTATATATACACACACATATCTGTGTGTATATGTA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP3_chr1_1287391_1312930	1289337	C C	CCGTGTCC others(171): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTGCTCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp2 HG02572.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0063 a0001c0001t0001g0008 a0001c0001t0001g0063	2	295	0.0068	178	c.42 others(189): Show c.4226_*4227insACGGAGCAGAGACACGGGACGGAGCAGACACGGG ACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGGGACGGGGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCA GACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3053		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289357	C C	CCGTGTCT others(171): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	295	0.0034	178	c.42 others(189): Show c.4206_*4207insACGGAGCAGAGACACGGGACGGAGCAGGGACACG GGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGA CACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCA GAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3033		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289471	C C	CCCCGTGT others(171): Show CCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCCCGTGTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	295	0.0034	178	c.40 others(189): Show c.4092_*4093insACGGAGCAGACACGGGGGACGGAGCAGGGACACG GGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGA CACGGGACGGGGCAGAGACACGGGACGGAGCAGACACGGGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2919		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1293764	G G	GGAGGCCC others(171): Show GGAGGCCCCGCCCCTGCCCTGGAGCCCCGCCCCTGCCCTGGAGGCCCCGC CCCTGCCCTGGAGGCCCCGCCCCTGCCCTGGAGGCCCCGCCCCTGCCCTG GAGGCCCCGCCCCTGCCCTGGAGCCCCGCCCCTGCCCTGGAGTTCCCGCC CCTGCCCTGGAGGCCCCGCCCCTGCCCTT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	295	0.0034	178	c.236 others(193): Show c.2361-57_2361-56insAAGGGCAGGGGCGGGGCCTCCAGGGCAGGG GCGGGAACTCCAGGGCAGGGGCGGGGCTCCAGGGCAGGGGCGGGGCCTCC AGGGCAGGGGCGGGGCCTCCAGGGCAGGGGCGGGGCCTCCAGGGCAGGGG CGGGGCCTCCAGGGCAGGGGCGGGGCTCCAGGGCAGGGGCGGGGCCTC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	23/23			chr1	TogoVar
ACAT1_chr11_108116567_108152603	108150760	C C	CCATTTAC others(171): Show CCATTTACTTTTCTGGTTCTCTATTTTTTTTTTTTTTTTTTTTCTTTTTT TTTTTTTTTTTTTTTTTTTCTTGTTTTGTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTCCTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT TTTTTTTGTCTTCTTTTTTTTAAAGAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	386	0.0026	178	c.33 others(189): Show c.3370_*3371insCATTTACTTTTCTGGTTCTCTATTTTTTTTTTTT TTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTCTTGTTTTGTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTGTTTT TTTTTTTTTTTTTTTTTTTTTTGTCTTCTTTTTTTTAAAGAATA	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding		3158		chr11	TogoVar
ACSM2B_chr16_20531226_20581367	20566673	A A	ATATAGTA others(171): Show ATATAGTATATATAGTATATATAGTATATATAGTATATATACTATATATA GTATATATAGTATATATACTATATATAGTATATATAGTATATATATACTA TATATAGTATATATACTATATATAGTATATATATACTATATATACTATAT ATAGTATATACTATATATACTATATATAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp1 HG02896.hp1 others(1): Show HG02615.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0015 a0003c0008t0001 a0003c0008t0015	a0003c0008t0001g0319 a0003c0008t0015g0031 a0003c0008t0015g0318 a0003c0008t0001g0319 a0003c0008t0015g0031 a0003c0008t0015g0318	4	388	0.0103	178	c.-8- others(193): Show c.-8-1821_-8-1820insCTATATATAGTATATATAGTATATACTATA TATAGTATATATAGTATATATATACTATATATAGTATATATACTATATAT AGTATATATATACTATATATACTATATATAGTATATATACTATATATACT ATATATAGTATATATACTATATATACTATATATACTATATATACTATA	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	1/13			chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20566700	A A	ATATATAG others(171): Show ATATATAGTATATATATACTATATATACTATATATAGTATATATATACTA TATATACTATATATAGTATATATATACTATATATACTATATATACTATAT ATAGTATATACTATATATACTATATATAGTATATACTATATATACTATAT ATAGTATATACTATATATACTATATATAG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0028 a0001c0002t0004g0028	2	388	0.0052	178	c.-8- others(193): Show c.-8-1848_-8-1847insCTATATATAGTATATATAGTATATACTATA TATAGTATATATAGTATATACTATATATAGTATATATAGTATATACTATA TATAGTATATATAGTATATATAGTATATATATACTATATATAGTATATAT AGTATATATATACTATATATAGTATATATAGTATATATATACTATATA	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	1/13			chr16	TogoVar
ACTN4_chr19_38642649_38736589	38735937	G G	GGGGGCGG others(171): Show GGGGGCGGGGCGGGGCGGGGCGGGCGGGGCGGGGCGGGCGGGGCGGGCGG GGCGGGCGGGGCGGGGCGGGCGGGGCGGGCGGGGCGGGCGGGGCGGGCGG GGCGGGGCGGGGCGGGCGGGGCGGGGCGGGCGGGGCGGGGCGGGGCGGGG CGGGCGGGGCGGGGCGGGGCGGGCGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0245 a0001c0004t0005g0245	1	314	0.0032	178	c.65 others(189): Show c.6505_*6506insGGGGCGGGGCGGGGCGGGGCGGGCGGGGCGGGGC GGGCGGGGCGGGCGGGGCGGGCGGGGCGGGGCGGGCGGGGCGGGCGGGGC GGGCGGGGCGGGCGGGGCGGGGCGGGGCGGGCGGGGCGGGGCGGGCGGGG CGGGGCGGGGCGGGGCGGGCGGGGCGGGGCGGGGCGGGCGGGGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4349		chr19	TogoVar
ADAM9_chr8_38991973_39110261	39045385	G G	GGTGTGTC others(171): Show GGTGTGTCTACACACACCTATATGTACGTGTGTACACACACCTATATGTA CGTGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTG CGTGTGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATATG TGCGTGTGTGTACACACACCTATATGTGC	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	332	0.0030	178	c.130 others(197): Show c.1302+3274_1302+3275insCTACACACACCTATATGTACGTGTGT ACACACACCTATATGTACGTGTGTACACACACCTATATGTGCGTGTGTGT ACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGTGT GTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGT GT	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM9_chr8_38991973_39110261	39045385	G G	GGTGTGTC others(171): Show GGTGTGTCTACACACACCTATATGTACGTGTGTACACACACCTATATGTG CGTGTGTGTACACACCTATATGTGCGTGTGTGTACACACACCTATATGTG CATGTGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATATG TGCGTGTGTGTACACACACCTATATGTGC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	332	0.0030	178	c.130 others(197): Show c.1302+3274_1302+3275insCTACACACACCTATATGTACGTGTGT ACACACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGTGTGTGT ACACACACCTATATGTGCATGTGTGTACACACACCTATATGTGCGTGTGT GTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGT GT	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM9_chr8_38991973_39110261	39045385	G G	GGTGTGTC others(171): Show GGTGTGTCTACACACACCTATATGTACGTGTGTACACACACCTATATGTG CGTGTGTGTACACACCTATATGTGCGTGTGTGTACACACACCTATATGTG CGTGTGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATATG TGCGTGTGTGTACACACACCTATATGTGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01168.hp1 HG02148.hp2 others(13): Show HG00323.hp1 HG01168.hp1 HG02148.hp2 HG02735.hp1 HG03239.hp2 NA18944.hp1 NA18953.hp2 NA18961.hp1 NA18977.hp2 NA18982.hp1 NA18990.hp1 NA18995.hp2 NA19056.hp1 NA19067.hp2 NA19240.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0126 a0001c0001t0001g0207 a0001c0001t0001g0253 others(13): Show a0001c0001t0001g0126 a0001c0001t0001g0207 a0001c0001t0001g0253 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0299 a0001c0001t0001g0306 a0001c0001t0001g0310 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0330 a0001c0003t0001g0295	16	332	0.0482	178	c.130 others(197): Show c.1302+3274_1302+3275insCTACACACACCTATATGTACGTGTGT ACACACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGTGTGTGT ACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGTGT GTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGT GT	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM9_chr8_38991973_39110261	39045385	G G	GGTGTGTC others(171): Show GGTGTGTCTACACACACCTATATGTACGTGTGTACACACACCTATATGTG CGTGTGTGTACACACCTATATGTGCGTGTGTGTGTACACACCTATATGTG CGTGTGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATATG TGCGTGTGTGTACACACACCTATATGTGC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	332	0.0030	178	c.130 others(197): Show c.1302+3274_1302+3275insCTACACACACCTATATGTACGTGTGT ACACACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGTGTGTGT GTACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGTGT GTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGT GT	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(171): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0038 a0003c0003t0002g0038	1	218	0.0046	178	c.32- others(191): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(171): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0032 a0003c0003t0002g0032	1	218	0.0046	178	c.32- others(191): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
AFF2_chrX_148495617_149005663	148581390	A A	ATACGTGT others(171): Show ATACGTGTACACACATATACACGTCTACGTGTACACACATATACACGTCT ACGTGTACACACATATACACGTCTACGTGTACACACATATACACGTCTAC GTGTACACACATATACACGTATACGTCTACGTGTACACACATATACACGT ATACGTCTACGTGTACACACATATACACG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0115 a0001c0001t0115	a0001c0001t0115g0080 a0001c0001t0115g0080	1	169	0.0059	178	c.48- others(195): Show c.48-70607_48-70606insCGTGTACACACATATACACGTCTACGTG TACACACATATACACGTCTACGTGTACACACATATACACGTCTACGTGTA CACACATATACACGTCTACGTGTACACACATATACACGTATACGTCTACG TGTACACACATATACACGTATACGTCTACGTGTACACACATATACACGTA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGBL4_chr1_48527854_50028954	49947954	A A	ATATATAT others(171): Show ATATATATAAATATATATATTTATAAATATATATTTATATATATAAATAT ATATATTTATAAATATATATTTATATATATAAATATATATATTTATAAAT ATATATTTATATATATAAATATATATATTTATAAATATATATTTATATAT ATAAATATATATATTTATATATATATATT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp1 HG03453.hp1 others(1): Show HG02572.hp2 HG02809.hp1 HG03453.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0097 a0001c0001t0003g0101 a0001c0001t0003g0102 others(1): Show a0001c0001t0002g0097 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103	4	104	0.0385	178	c.34+ others(195): Show c.34+75808_34+75809insAATATATATATATAAATATATATATTTA TATATATAAATATATATTTATAAATATATATATTTATATATATAAATATA TATTTATAAATATATATATTTATATATATAAATATATATTTATAAATATA TATATTTATATATATAAATATATATTTATAAATATATATATTTATATATA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AK3_chr9_4704556_4746202	4735254	T T	TATACATA others(171): Show TATACATATATAAATATATATATACATATATAAATATATATATACATATA TAAATATATATATACATATATAAATATATATACATATATAAATATATATA TACATATATATATATACATATATAAATATATATACATATATAAATATATA TACATATATAAATATATATACATATATAA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	462	0.0022	178	c.151 others(195): Show c.151+5682_151+5683insTTATATATGTATATATATTTATATATGT ATATATATTTATATATGTATATATATTTATATATGTATATATATATATGT ATATATATATTTATATATGTATATATATTTATATATGTATATATATATTT ATATATGTATATATATATTTATATATGTATATATATATTTATATATGTAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4735256	T T	TACATATA others(171): Show TACATATATAAATATATATATACATATATAAATATATATATACATATATA AATATATATATACATATATAAATATATATACATATATAAATATATATACA TATATAAATATATATACATATATAAATATATATACATATATAAATATATA TACATATATAAATATATATACATATATAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	462	0.0022	178	c.151 others(195): Show c.151+5680_151+5681insTTATATATGTATATATATTTATATATGT ATATATATTTATATATGTATATATATTTATATATGTATATATATTTATAT ATGTATATATATTTATATATGTATATATATTTATATATGTATATATATAT TTATATATGTATATATATATTTATATATGTATATATATATTTATATATGT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
ANKRD24_chr19_4177689_4229814	4228331	T T	TCTCTCTC others(171): Show TCTCTCTCTCTCTGTCATCTCCCTGTCTCTGTCTCTCTCTATCTCTGTGT CCTCCTCTCATTTGTCTCTCTGCCTCTCTCATCTGTATCTCTGTCACTGT CTCTGTCATCTCCCTGTCTCTCTATCCCTCTATCTCTGTGTCCTCCTCTC ATCTGTCTCTCTGCCTCTCTCATCTGTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0103 a0003c0003t0001g0103	1	356	0.0028	178	c.38 others(189): Show c.3826_*3827insCTCTCTCTCTCTGTCATCTCCCTGTCTCTGTCTC TCTCTATCTCTGTGTCCTCCTCTCATTTGTCTCTCTGCCTCTCTCATCTG TATCTCTGTCACTGTCTCTGTCATCTCCCTGTCTCTCTATCCCTCTATCT CTGTGTCCTCCTCTCATCTGTCTCTCTGCCTCTCTCATCTGTAG	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding		3518		chr19	TogoVar
ANO2_chr12_5557655_5950259	5668391	T T	TAATGTTT others(171): Show TAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTC TAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATA CATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAG GTATATCTCCCAATGCTATCCCTCCCCCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	162	0.0062	178	c.154 others(199): Show c.1546-20591_1546-20590insGGGGGGAGGGATAGCATTGGGAGA TATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGC ACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAA ACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA CATT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	14/24			chr12	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(171): Show AATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATAATTGTATATATAATATATATTATATATACAATTGTATATATAATAT ATATTATATATACAATTGTATATATAATATATATTATATATATAATTGTA TATATAATATATATTATATATATAATTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	384	0.0026	178	c.-12 others(189): Show c.-1255_-1254insATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATACAA TTGTATATATAATATATATTATATATACAATTGTATATATAATATATATT ATATATATAATTGTATATATAATATATATTATATATATAATTGT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
APLP2_chr11_130064894_130149805	130091520	A A	AGGGCGGC others(171): Show AGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGTGGGGGGGGCTGACCCCCCCATCTCCCTCCCAGAC GGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	274	0.0037	178	c.106 others(197): Show c.106-17837_106-17836insGCTGACCCCCCCATCTCCCTCCCAGA CGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGG GG	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
APLP2_chr11_130064894_130149805	130091585	T T	TGGGGGGG others(171): Show TGGGGGGGCTGACCCCCCCATCTCCCTCCCAGACGGGGTGGCTGGCCGGG CTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGTG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	274	0.0037	178	c.106 others(197): Show c.106-17682_106-17681insGGCGGCTGGCCGGGTGGGGGGGGCTG ACCCCCCCATCTCCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GG	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
APLP2_chr11_130064894_130149805	130091596	A A	ACCCCCCC others(171): Show ACCCCCCCATCTCCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGTGGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02976.hp1 HG02074.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0170 a0001c0001t0001g0141 a0001c0001t0001g0170	2	274	0.0073	178	c.106 others(197): Show c.106-17682_106-17681insGGCGGCTGGCCGGGTGGGGGGGCTGA CCCCCCCCATCTCCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GG	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARFIP1_chr4_152774954_152917357	152804211	A A	ATTATATA others(171): Show ATTATATATAATATAAGATGTATTATATATTATATATAATATAAGATGTA TTATATATTATATATAATATAATATGTATTATATATAATATATAATATAA CATGTATTACATATTATATATATAACATAACATGTATTATATATATTTTA TATATAATATAACATGTATTATATATATT	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA19086.hp2 HG03017.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0148 a0001c0001t0003g0081 a0001c0001t0003g0148	2	342	0.0059	178	c.-10 others(197): Show c.-10+24000_-10+24001insGATGTATTATATATTATATATAATAT AAGATGTATTATATATTATATATAATATAATATGTATTATATATAATATA TAATATAACATGTATTACATATTATATATATAACATAACATGTATTATAT ATATTTTATATATAATATAACATGTATTATATATATTTTATATATAATAT AA	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARFIP1_chr4_152774954_152917357	152804211	A A	ATTATATG others(171): Show ATTATATGTAATATAAGATGTATTATATATTATATATAATATAAGATGTA TTATATATTATATATAATATAATATGTATTATATATAATATATAATATAA CATGTATTACATATTATATATATAACATAACATGTATTATATATATTTTA TATATAATATAACATGTATTATATATATT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0155 a0001c0001t0003g0155	1	342	0.0029	178	c.-10 others(197): Show c.-10+23991_-10+23992insGTAATATAAGATGTATTATATATTAT ATATAATATAAGATGTATTATATATTATATATAATATAATATGTATTATA TATAATATATAATATAACATGTATTACATATTATATATATAACATAACAT GTATTATATATATTTTATATATAATATAACATGTATTATATATATTTTAT AT	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARFRP1_chr20_63693647_63712976	63693732	T T	TCCACCAC others(171): Show TCCACCACCACCTCCACCACCTCCACCACCACCACCACCACCTCCACCAC CTCCACCTCCACCTCCACCTCCACCTCCACCACCTCCACCTCCACCACCT CCACCACCTCCACCACCACCTCCACCACCTCCCACCACCACCTCCACCAC CACCTCCACCACCACCTCCTCCACCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	296	0.0034	178	c.67 others(189): Show c.6710_*6711insTGGAGGTGGAGGAGGTGGTGGTGGAGGTGGTGGT GGAGGTGGTGGTGGGAGGTGGTGGAGGTGGTGGTGGAGGTGGTGGAGGTG GTGGAGGTGGAGGTGGTGGAGGTGGAGGTGGAGGTGGAGGTGGAGGTGGT GGAGGTGGTGGTGGTGGTGGTGGAGGTGGTGGAGGTGGTGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4914		chr20	TogoVar
ARHGAP39_chr8_144524179_144690846	144687153	C C	CCACCCCT others(171): Show CCACCCCTGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCTGTGACC ACGCACTGGCGGTGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGA GCACTTCCCACCCCTGTGACCACGCACTGGCGGTGAGCACTTCCCACCCC GTGACCACTCATTTACAGCGAGCACTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0005	1	246	0.0041	178	c.-15 others(189): Show c.-1550_-1549insAGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGT GGGAAGTGCTCACCGCCAGTGCGTGGTCACAGGGGTGGGAAGTGCTCGCC GCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGCGTGGTCA CAGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACAGGGGTG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1308		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687179	C C	CGACCATT others(171): Show CGACCATTTCCCACCCCCGTGACCACGCACTGGCGGCGAGCACTTCCCAC CCCGTGACCACACACTAGCGGCGAGCACTTCCCACCCCCGTGACCACTCA TTTACAGCGAGCACTTCTCACCCCCGTGACCACGCACTGGCGGCGAGCAC TTCCCACCCCGTGACCACGCACTGGCAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0169	1	246	0.0041	178	c.-15 others(189): Show c.-1576_-1575insACTGCCAGTGCGTGGTCACGGGGTGGGAAGTGCT CGCCGCCAGTGCGTGGTCACGGGGGTGAGAAGTGCTCGCTGTAAATGAGT GGTCACGGGGGTGGGAAGTGCTCGCCGCTAGTGTGTGGTCACGGGGTGGG AAGTGCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAATGGTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1334		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687357	C C	CGAGCACT others(171): Show CGAGCACTTCCCACCCCTGTGACCACACACTGGCGGCGAGCACTTCCCAC CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACA CTAGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCAC TTCCCACCCCGTGACCACACATTTACAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	246	0.0041	178	c.-17 others(189): Show c.-1754_-1753insACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCT CACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGT GGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTGGG AAGTGCTCGCCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1512		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(171): Show GGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCA CCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCCGTGACCACA CATTTACAGTGAGCACTTCCCACCCCTGTGACCACACACTGGCGGTGAGC ACTTCCCACCCCGTGACCACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0118 a0001c0007t0003g0118	1	246	0.0041	178	c.-18 others(189): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCACTGTAAATGTGTGG TCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGA AGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687607	G G	GCACTTCC others(171): Show GCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCT GTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTG GCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCACTTC CCACCCCGTGACCACACATTTACAGTGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0125 a0001c0002t0019g0125	1	246	0.0041	178	c.-20 others(189): Show c.-2004_-2003insTTCACTGTAAATGTGTGGTCACGGGGTGGGAAGT GCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTG TGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACAGGGG TGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1762		chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1873510	T T	TTTGAGAG others(171): Show TTTGAGAGGCGCCCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCCTTGA GAGGTGCCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGTG CCCGCGGGGTAGTGCACCCGCATTTCCTCGTTGCGTTGAGACGTGCCGCG GGGTAGTGCACCCGCATTTCCTCGTTGCG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0141 a0001c0001t0004g0141	1	363	0.0028	178	c.680 others(195): Show c.680-2934_680-2933insCGTTGCGTTGAGACGTGCCGCGGGGTAG TGCACCCGCATTTCCTCGTTGCGTTGAGAGGCGCCCGCGGGGTAGTGCAC CCGCATTTCCTAGTTGCCTTGAGAGGTGCCGCGGGGTAGTGCACCCGCAT TTCCTAGTTGCCTTGAGAGGTGCCCGCGGGGTAGTGCACCCGCATTTCCT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1873519	C C	CGCCCGCG others(171): Show CGCCCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGTGCCG CGGGGTAGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGTGCCCGCGGGG TAGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGTGCCGCGGGGTAGTGC ACCCGCATTTCCTCGTTTCATTGAGCGGT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0166 a0001c0002t0003g0166	1	363	0.0028	178	c.680 others(195): Show c.680-3033_680-2856dupCCGCATTTCCTAGTTGCCTTGAGAGGTG CCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGTGCCCGCG GGGTAGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGTGCCGCGGGGTAG TGCACCCGCATTTCCTCGTTTCATTGAGCGGTGCCCGCGGGGTAGTGCAC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASCC1_chr10_72091032_72221276	72198374	G G	GAGGGGAC others(171): Show GAGGGGACGGGGAGGGGACGGGGAGGGGACAGGGAGGGGAGGGGAGGGGG AGGGGACGGGGAGGGGACGGGAGGGGAGGGGGACGGGAGGGGAGGGGGAG GGGGGAGGGGGAGGGGAGAATGGGGAGGGGAGGGGGAGGGGGAGGGGAAG GGGAGGGGGGGGAGGGGGGAGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0172 a0002c0002t0004g0172	1	216	0.0046	178	c.311 others(195): Show c.311-1386_311-1385insTCCTCCCCCTCCCCCCTCCCCCCCCTCC CCTTCCCCTCCCCCTCCCCCTCCCCTCCCCATTCTCCCCTCCCCCTCCCC CCTCCCCCTCCCCTCCCGTCCCCCTCCCCTCCCGTCCCCTCCCCGTCCCC TCCCCCTCCCCTCCCCTCCCTGTCCCCTCCCCGTCCCCTCCCCGTCCCCT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASGR2_chr17_7096326_7119822	7112076	G G	GGAGGGGA others(171): Show GGAGGGGAGGGGGAGAGGGGAGGGGGGAGAGGGATGGAGGGGGAGGGGCA GGGGAGGGGGAGGAGGGAGAGGGAGGGATGGGGAGGGGAGGGGGAGGAGA GAAGGAAGGGAGAGGGGGAGGGGGAGGGAGAGGGAAGGGGAGTGCGAGGG GAGGGGGAGGGGAGAGGGAGGGGGAGGGA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA19068.hp1 NA18939.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	2	432	0.0046	178	c.124 others(195): Show c.124+2040_124+2041insTCCCTCCCCCTCCCTCTCCCCTCCCCCT CCCCTCGCACTCCCCTTCCCTCTCCCTCCCCCTCCCCCTCTCCCTTCCTT CTCTCCTCCCCCTCCCCTCCCCATCCCTCCCTCTCCCTCCTCCCCCTCCC CTGCCCCTCCCCCTCCATCCCTCTCCCCCCTCCCCTCTCCCCCTCCCCTC	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	2/8			chr17	TogoVar

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