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
ZBTB20_chr3_114309500_115152288	114928302	GCCTCAAG others(71): Show GCCTCAAGGTTCTTCAATGATGGAGAACCTCAAGGTTCTTCAATGATGGA GAACCTCAAGGTTCTTCAATGATGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01496.hp2 HG03098.hp2 HG01261.hp1 HG01496.hp2 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0065 a0001c0001t0073 a0002c0003t0051 a0001c0001t0065 a0001c0001t0073 a0002c0003t0051	a0001c0001t0065g0016 a0001c0001t0073g0015 a0002c0003t0051g0017 a0001c0001t0065g0016 a0001c0001t0073g0015 a0002c0003t0051g0017	3	88	0.0341	-78	c.-45 others(99): Show c.-455-28038_-455-27961delTTCTCCATCATTGAAGAACCTTGA GGTTCTCCATCATTGAAGAACCTTGAGGTTCTCCATCATTGAAGAACCTT GAGG	ZBTB20	ENSG00000181722.18	transcript	ENST00000675478.1	protein_coding	3/11			chr3	TogoVar
ZMAT4_chr8_40525590_40902826	40601488	AGAAAGAG others(71): Show AGAAAGAGAGAAAGAAAGAAAGAGAAAGAGAAAGAAAGAGGGAGAAAGGG GAAGGGGGAGTGAGAAAGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03927.hp2 NA18522.hp2 others(1): Show HG01243.hp1 HG03927.hp2 NA18522.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0063 a0001c0001t0001g0081 others(1): Show a0001c0001t0001g0050 a0001c0001t0001g0063 a0001c0001t0001g0081 a0001c0001t0001g0148	4	228	0.0175	-78	c.578 others(97): Show c.578-20305_578-20228delCTTCTTTCTTTCTTTCTCACTCCCCC TTCCCCTTTCTCCCTCTTTCTTTCTCTTTCTCTTTCTTTCTTTCTCTCTT TC	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	5/6			chr8	TogoVar
ZMAT4_chr8_40525590_40902826	40601631	AAAGAGAA others(71): Show AAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02683.hp2 HG03139.hp1 others(1): Show HG01070.hp1 HG02683.hp2 HG03139.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0190 a0001c0001t0001g0200 a0001c0001t0002g0075 others(1): Show a0001c0001t0001g0190 a0001c0001t0001g0200 a0001c0001t0002g0075 a0001c0001t0003g0077	4	228	0.0175	-78	c.578 others(97): Show c.578-20448_578-20371delCTTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TT	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	5/6			chr8	TogoVar
ZMAT4_chr8_40525590_40902826	40601635	AGAAAGAA others(71): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	228	0.0044	-78	c.578 others(97): Show c.578-20452_578-20375delCTTTCTTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	5/6			chr8	TogoVar
ZMYND11_chr10_130455_259637	197062	GTTCATGT others(71): Show GTTCATGTATGTGTATCAATACATACGCATGGAAGGTGGCGTGCTTTTAG TTCACGTGTGTGCCCACGTGCACATTGTA	G G	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18963.hp1 NA18964.hp1 others(1): Show NA18941.hp2 NA18963.hp1 NA18964.hp1 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0153 a0001c0002t0001g0171 others(1): Show a0001c0002t0001g0151 a0001c0002t0001g0153 a0001c0002t0001g0171 a0001c0002t0001g0179	4	342	0.0117	-78	c.117 others(97): Show c.117-12799_117-12722delATGGAAGGTGGCGTGCTTTTAGTTCA CGTGTGTGCCCACGTGCACATTGTATTCATGTATGTGTATCAATACATAC GC	ZMYND11	ENSG00000015171.21	transcript	ENST00000381604.9	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZNF100_chr19_21717771_21772579	21721243	CCGCCCCG others(71): Show CCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0022 a0002c0001t0022	a0002c0001t0022g0171 a0002c0001t0022g0171	1	365	0.0027	-78	c.53 others(89): Show c.5362_*5439delACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCG	ZNF100	ENSG00000197020.12	transcript	ENST00000358296.11	protein_coding		1527		chr19	TogoVar
ZNF132_chr19_58427814_58445153	58443115	TGCTGATT others(71): Show TGCTGATTGGTGCATTTACAATCCTTTAGCTAGACAGAAAAGTTTTCCAA GTCCCCAGCCAATTAGCTAGACACAGAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0015 a0002c0002t0004g0015	2	424	0.0047	-78	c.-33 others(89): Show c.-3372_-3295delGCTCTGTGTCTAGCTAATTGGCTGGGGACTTGGA AAACTTTTCTGTCTAGCTAAAGGATTGTAAATGCACCAATCAGC	ZNF132	ENSG00000131849.14	transcript	ENST00000254166.4	protein_coding		2963		chr19	TogoVar
ZNF236_chr18_76817557_76977901	76936682	TTATTCCT others(71): Show TTATTCCTCAGTGGATCACACTTGCTTCCTTTCTTCAGCTGGTCTCTTCA GTTGTGGATGGGTAAGCTCCGGAAGTAGC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 homoSapiens_chm13v2.hp1 HG00735.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0195 a0001c0003t0003g0199 a0001c0003t0003g0195 a0001c0003t0003g0199	2	346	0.0058	-78	c.459 others(95): Show c.4595-426_4595-349delCAGTTGTGGATGGGTAAGCTCCGGAAGT AGCTATTCCTCAGTGGATCACACTTGCTTCCTTTCTTCAGCTGGTCTCTT	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	25/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF440_chr19_11809273_11840216	11811898	AAGAAAGA others(71): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGGGAGA GAGAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0025 a0002c0002t0002g0025	1	376	0.0027	-78	c.-25 others(89): Show c.-2549_-2472delAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAG AGAGAGAGAGGGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAG	ZNF440	ENSG00000171295.13	transcript	ENST00000304060.10	protein_coding		2374		chr19	TogoVar
ZNF444_chr19_56136287_56165893	56151107	GCGCATAG others(71): Show GCGCATAGACAGCTGACATCTGGGGGCGCTGCTGTGGATTGGGGTTTCTT GGCATCTGGTCTGTGGGAGCTGACGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0107 a0001c0001t0005g0107	1	416	0.0024	-78	c.297 others(95): Show c.297+3977_297+4054delACGCATAGACAGCTGACATCTGGGGGCG CTGCTGTGGATTGGGGTTTCTTGGCATCTGGTCTGTGGGAGCTGACGGTG	ZNF444	ENSG00000167685.15	transcript	ENST00000337080.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF491_chr19_11793523_11813503	11811898	AAGAAAGA others(71): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGGGAGA GAGAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0058 a0002c0003t0005g0058	1	390	0.0026	-78	c.46 others(89): Show c.4632_*4709delAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAG AGAGAGAGAGGGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAG	ZNF491	ENSG00000177599.13	transcript	ENST00000323169.10	protein_coding		3396		chr19	TogoVar
ZNF618_chr9_113871309_114061593	113900612	CGTCTCCT others(71): Show CGTCTCCTAGCACCGTCCTCTCCCGCGAACCCGAGCTCCCGTCTCCTAGC ACCGTCCTCTCCCGCAAACCCGACCTGCT	C C	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0201 a0001c0003t0024g0201	1	264	0.0038	-78	c.33+ others(95): Show c.33+24225_33+24302delGAACCCGAGCTCCCGTCTCCTAGCACCG TCCTCTCCCGCAAACCCGACCTGCTGTCTCCTAGCACCGTCCTCTCCCGC	ZNF618	ENSG00000157657.15	transcript	ENST00000374126.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZSCAN22_chr19_58321994_58347332	58337378	TGAGTGTG others(71): Show TGAGTGTGAGGGACAGAACTCCAACCCCACAGAGATCAGAGCCTGCAGGG GACACATCCAGGCCTAGACGCAAGGTGTC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00738.hp2 HG01099.hp2 others(69): Show HG00673.hp1 HG00738.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01243.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG02293.hp2 HG02486.hp2 HG02523.hp2 HG02683.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03834.hp2 HG06807.hp2 NA18522.hp1 NA18941.hp2 NA18942.hp1 NA18950.hp1 NA18976.hp1 NA18977.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18993.hp1 NA18993.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19055.hp1 NA19064.hp2 NA19072.hp2 NA19074.hp2 NA19091.hp1 NA20129.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0010	a0001c0001 a0001c0002 a0001c0020 others(4): Show a0001c0001 a0001c0002 a0001c0020 a0001c0021 a0003c0008 a0008c0011 a0010c0019	a0001c0001t0001 a0001c0001t0007 a0001c0002t0002 others(10): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0002 a0001c0002t0004 a0001c0002t0011 a0001c0002t0018 a0001c0002t0020 a0001c0002t0021 a0001c0020t0004 a0001c0021t0007 a0003c0008t0002 a0008c0011t0002 a0010c0019t0011	a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0007g0133 others(40): Show a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0007g0133 a0001c0001t0007g0136 a0001c0001t0007g0137 a0001c0002t0002g0005 a0001c0002t0002g0010 a0001c0002t0002g0012 a0001c0002t0002g0015 a0001c0002t0002g0030 a0001c0002t0002g0038 a0001c0002t0002g0040 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0004g0005 a0001c0002t0004g0039 a0001c0002t0004g0059 a0001c0002t0011g0015 a0001c0002t0018g0010 a0001c0002t0020g0139 a0001c0002t0021g0038 a0001c0020t0004g0039 a0001c0021t0007g0135 a0003c0008t0002g0010 a0003c0008t0002g0015 a0008c0011t0002g0015 a0010c0019t0011g0121	72	400	0.1800	-78	c.404 others(93): Show c.404-486_404-409delCGAGTGTGAGGGACAGAACTCCAACCCCAC AGAGATCAGAGCCTGCAGGGGACACATCCAGGCCTAGACGCAAGGTGT	ZSCAN22	ENSG00000182318.6	transcript	ENST00000329665.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56313888	GGGAAGGT others(71): Show GGGAAGGTATAGAAGAGTGTTCAGGAAAACTTTTAGGGCAGCAGTTCTCA GTAGGCTGACTTCAGCCCCCAGGGGACAT	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	362	0.0028	-78	c.-22 others(95): Show c.-229-582_-229-505delATGTCCCCTGGGGGCTGAAGTCAGCCTA CTGAGAACTGCTGCCCTAAAAGTTTTCCTGAACACTCTTCTATACCTTCC	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	1/5			chr19	TogoVar
ZSWIM7_chr17_15971560_16004704	15979935	GGGCGGCT others(71): Show GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCG GGCAGAGGTGCCCCTCATCTCCCGGACGA	G G	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18946.hp2 NA18982.hp2 others(2): Show NA18942.hp1 NA18946.hp2 NA18982.hp2 NA18986.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0153 a0001c0001t0001g0184 a0001c0001t0001g0015 a0001c0001t0001g0153 a0001c0001t0001g0184	5	344	0.0145	-78	c.306 others(95): Show c.306+1027_306+1104delTCGTCCGGGAGATGAGGGGCACCTCTGC CCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC	ZSWIM7	ENSG00000214941.8	transcript	ENST00000399277.6	protein_coding	4/4			chr17	TogoVar
ZYG11B_chr1_52721453_52832336	52803095	TATACATA others(71): Show TATACATATATATATATATATATACACACATATATATATACACACATATA TATATATATACACATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp2 HG02647.hp1 others(9): Show HG01891.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03139.hp2 NA18906.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0075 a0001c0001t0076 a0001c0003t0012 others(2): Show a0001c0001t0075 a0001c0001t0076 a0001c0003t0012 a0001c0003t0015 a0001c0003t0020	a0001c0001t0075g0158 a0001c0001t0076g0157 a0001c0003t0012g0204 others(9): Show a0001c0001t0075g0158 a0001c0001t0076g0157 a0001c0003t0012g0204 a0001c0003t0012g0206 a0001c0003t0012g0207 a0001c0003t0015g0205 a0001c0003t0015g0209 a0001c0003t0015g0210 a0001c0003t0015g0211 a0001c0003t0020g0201 a0001c0003t0020g0203 a0001c0003t0020g0208	12	352	0.0341	-78	c.169 others(96): Show c.1695+960_1695+1037delCATATATATATATATATATACACACAT ATATATATACACACATATATATATATATACACATATATATATACACACAT A	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACER2_chr9_19404009_19457505	19433993	GGAGACGC others(70): Show GGAGACGCTCCTCACTTCTCAGACGGGGCGGCTGCCGGGCGGAGGGTCTC CTCACTTCTCAGACGGGGCGGCCGGGCA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03209.hp1 NA19030.hp2 others(1): Show HG02717.hp1 HG03209.hp1 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0005 a0001c0001t0001 a0001c0001t0004 a0001c0003t0005	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0004g0097 others(1): Show a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0004g0097 a0001c0003t0005g0327	4	358	0.0112	-77	c.366 others(92): Show c.366-939_366-863delTTCTCAGACGGGGCGGCTGCCGGGCGGAGG GTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCAC	ACER2	ENSG00000177076.6	transcript	ENST00000340967.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAM12_chr10_126007391_126393477	126200781	GACTCTAG others(70): Show GACTCTAGAGAAAGAGCCCAGGATGTGGTTTGAGATGGACGTTGGAGAGT TGTTAGGACTTAGATTTTGTGTACGTGA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02080.hp1 HG02451.hp1 others(5): Show HG00621.hp2 HG02080.hp1 HG02451.hp1 HG02622.hp1 HG02717.hp1 NA18979.hp2 NA18998.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0019 a0001c0031 others(5): Show a0001c0003 a0001c0019 a0001c0031 a0002c0001 a0002c0005 a0002c0015 a0002c0024 a0002c0049	a0001c0003t0012 a0001c0019t0044 a0001c0031t0002 others(5): Show a0001c0003t0012 a0001c0019t0044 a0001c0031t0002 a0002c0001t0001 a0002c0005t0010 a0002c0015t0002 a0002c0024t0012 a0002c0049t0004	a0001c0003t0012g0089 a0001c0019t0044g0182 a0001c0031t0002g0181 others(5): Show a0001c0003t0012g0089 a0001c0019t0044g0182 a0001c0031t0002g0181 a0002c0001t0001g0007 a0002c0005t0010g0059 a0002c0015t0002g0024 a0002c0024t0012g0238 a0002c0049t0004g0071	8	252	0.0318	-77	c.261 others(96): Show c.261-45553_261-45477delTCACGTACACAAAATCTAAGTCCTAA CAACTCTCCAACGTCCATCTCAAACCACATCCTGGGCTCTTTCTCTAGAG T	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	3/22			chr10	TogoVar
ADAMTS2_chr5_179105853_179350461	179217816	CTAGGGGA others(70): Show CTAGGGGATGGCCTGAGGGCAGACAGGCACACTCACTAGGTAGGGGATGG CCTGAGGGCAGACGGCACACTCACTAGG	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0003 a0003	a0003c0031 a0003c0031	a0003c0031t0004 a0003c0031t0004	a0003c0031t0004g0051 a0003c0031t0004g0051	1	276	0.0036	-77	c.689 others(96): Show c.689-10178_689-10102delCCTAGTGAGTGTGCCGTCTGCCCTCA GGCCATCCCCTACCTAGTGAGTGTGCCTGTCTGCCCTCAGGCCATCCCCT A	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21			chr5	TogoVar
ADGRB1_chr8_142444649_142550007	142516623	TGCATGTG others(70): Show TGCATGTGTGCGGGTCCCAGGTGTGTGTGTGTGTGTGTGTGGGTCCCAGG TGCATGCCTGTGTGCGGGCCCCAGGTGC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02055.hp1 HG02132.hp1 others(10): Show HG00597.hp1 HG02055.hp1 HG02132.hp1 HG02615.hp1 HG02683.hp1 HG02717.hp2 HG02818.hp2 HG03098.hp1 HG03579.hp2 NA18522.hp1 NA18997.hp1 NA19054.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0001c0015 a0001c0016 others(3): Show a0001c0008 a0001c0015 a0001c0016 a0001c0024 a0001c0036 a0002c0020	a0001c0008t0001 a0001c0008t0002 a0001c0008t0003 others(7): Show a0001c0008t0001 a0001c0008t0002 a0001c0008t0003 a0001c0008t0010 a0001c0015t0001 a0001c0015t0004 a0001c0016t0001 a0001c0024t0001 a0001c0036t0002 a0002c0020t0002	a0001c0008t0001g0297 a0001c0008t0001g0298 a0001c0008t0002g0061 others(10): Show a0001c0008t0001g0297 a0001c0008t0001g0298 a0001c0008t0002g0061 a0001c0008t0002g0062 a0001c0008t0003g0013 a0001c0008t0010g0173 a0001c0015t0001g0024 a0001c0015t0004g0282 a0001c0016t0001g0272 a0001c0016t0001g0273 a0001c0024t0001g0085 a0001c0036t0002g0012 a0002c0020t0002g0053	13	310	0.0419	-77	c.281 others(96): Show c.2818-1513_2818-1437delCATGTGTGCGGGTCCCAGGTGTGTGT GTGTGTGTGTGTGGGTCCCAGGTGCATGCCTGTGTGCGGGCCCCAGGTGC G	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	18/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
AFF2_chrX_148495617_149005663	148547139	TCAGTGAA others(70): Show TCAGTGAAGGGTCCAGAGTGGCTCTGAGGTTCATTTTGAACATGACGGGA ATTCAAAGAAAGTACTACACCTTTCTTG	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG00639.hp2 others(83): Show HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG01074.hp1 HG01099.hp1 HG01167.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01433.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02809.hp1 HG03041.hp2 HG03471.hp1 HG03654.hp1 HG03688.hp1 HG03942.hp1 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0002c0009 a0003c0008 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(60): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0073 a0001c0001t0074 a0001c0001t0081 a0001c0001t0088 a0001c0001t0090 a0001c0001t0096 a0001c0001t0100 a0001c0001t0104 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0002t0031 a0001c0002t0072 a0001c0003t0028 a0002c0009t0103 a0003c0008t0045 a0004c0006t0012	a0001c0001t0001g0019 a0001c0001t0001g0036 a0001c0001t0001g0039 others(83): Show a0001c0001t0001g0019 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0001t0002g0054 a0001c0001t0002g0062 a0001c0001t0002g0085 a0001c0001t0002g0166 a0001c0001t0003g0042 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0086 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0004g0045 a0001c0001t0004g0100 a0001c0001t0007g0038 a0001c0001t0007g0048 a0001c0001t0008g0051 a0001c0001t0008g0059 a0001c0001t0008g0073 a0001c0001t0012g0168 a0001c0001t0013g0034 a0001c0001t0013g0072 a0001c0001t0014g0055 a0001c0001t0014g0058 a0001c0001t0015g0032 a0001c0001t0015g0060 a0001c0001t0017g0040 a0001c0001t0021g0103 a0001c0001t0024g0091 a0001c0001t0024g0093 a0001c0001t0025g0081 a0001c0001t0027g0017 a0001c0001t0033g0083 a0001c0001t0035g0078 a0001c0001t0036g0139 a0001c0001t0041g0071 a0001c0001t0042g0012 a0001c0001t0043g0006 a0001c0001t0048g0013 a0001c0001t0049g0105 a0001c0001t0050g0026 a0001c0001t0051g0069 a0001c0001t0052g0064 a0001c0001t0053g0027 a0001c0001t0055g0025 a0001c0001t0056g0023 a0001c0001t0057g0135 a0001c0001t0058g0097 a0001c0001t0059g0014 a0001c0001t0060g0067 a0001c0001t0063g0053 a0001c0001t0064g0084 a0001c0001t0065g0056 a0001c0001t0067g0057 a0001c0001t0068g0169 a0001c0001t0069g0047 a0001c0001t0070g0044 a0001c0001t0071g0028 a0001c0001t0073g0074 a0001c0001t0074g0033 a0001c0001t0081g0052 a0001c0001t0088g0104 a0001c0001t0090g0099 a0001c0001t0096g0146 a0001c0001t0100g0140 a0001c0001t0104g0049 a0001c0001t0114g0079 a0001c0001t0115g0080 a0001c0001t0116g0075 a0001c0001t0119g0061 a0001c0001t0120g0035 a0001c0001t0121g0046 a0001c0001t0122g0092 a0001c0001t0123g0090 a0001c0002t0031g0148 a0001c0002t0072g0018 a0001c0003t0028g0005 a0002c0009t0103g0050 a0003c0008t0045g0010 a0004c0006t0012g0011	86	169	0.5089	-77	c.47+ others(94): Show c.47+46110_47+46186delAACATGACGGGAATTCAAAGAAAGTACT ACACCTTTCTTGCAGTGAAGGGTCCAGAGTGGCTCTGAGGTTCATTTTG	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGBL1_chr15_86074871_86921156	86633788	ATATATAT others(70): Show ATATATATAATGTATATATATATAATGTATGTATATATATATAATGTATA TATATATAATGTATATATATATATAATG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02647.hp2 HG02976.hp1 others(1): Show HG01496.hp1 HG02647.hp2 HG02976.hp1 HG06807.hp2	a0001 a0009 a0010 a0001 a0009 a0010	a0001c0002 a0001c0007 a0009c0039 others(1): Show a0001c0002 a0001c0007 a0009c0039 a0010c0014	a0001c0002t0011 a0001c0007t0030 a0009c0039t0023 others(1): Show a0001c0002t0011 a0001c0007t0030 a0009c0039t0023 a0010c0014t0054	a0001c0002t0011g0005 a0001c0007t0030g0123 a0009c0039t0023g0020 others(1): Show a0001c0002t0011g0005 a0001c0007t0030g0123 a0009c0039t0023g0020 a0010c0014t0054g0021	4	132	0.0303	-77	c.299 others(98): Show c.2995-40476_2995-40400delATGTATATATATATAATGTATGTA TATATATATAATGTATATATATATAATGTATATATATATATAATGTATAT ATA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86633801	ATATATAT others(70): Show ATATATATATAATGTATGTATATATATATAATGTATATATATATAATGTA TATATATATATAATGTATATATATAATG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0128	1	132	0.0076	-77	c.299 others(98): Show c.2995-40461_2995-40385delATGTATGTATATATATATAATGTA TATATATATAATGTATATATATATATAATGTATATATATAATGTATATAT ATA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86638908	TTCAGGTT others(70): Show TTCAGGTTTCAACTTGGTAGCAATCCACTTCCGAGTTCTCTCCGTGCTGG TAGACGGGATTCAGTTTCTTACTATCTG	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0095 a0004c0009t0003g0095	1	132	0.0076	-77	c.299 others(98): Show c.2995-35362_2995-35286delAGGTTTCAACTTGGTAGCAATCCA CTTCCGAGTTCTCTCCGTGCTGGTAGACGGGATTCAGTTTCTTACTATCT GTC	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGR2_chr7_16786811_16809999	16789854	GGGGCGGC others(70): Show GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCTGCC GGGCCGAGGCGCCCCTCACCTCCCGGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	460	0.0022	-77	c.29 others(88): Show c.2977_*3053delATCCGGGAGGTGAGGGGCGCCTCGGCCCGGCAGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC	AGR2	ENSG00000106541.12	transcript	ENST00000419304.7	protein_coding		1956		chr7	TogoVar
AKIP1_chr11_8906189_8925079	8910560	CTGTGTGT others(70): Show CTGTGTGTGTGTGTGGACACGGGTTGTCGCTATGTTGCCTACCTAGCTGG TACCCCATAACCACTCCTGGCTAGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG00733.hp2 others(38): Show HG00280.hp2 HG00733.hp1 HG00733.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01123.hp1 HG01175.hp1 HG01255.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01993.hp2 HG02004.hp1 HG02109.hp1 HG02148.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02602.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02818.hp2 HG03041.hp1 HG03098.hp1 HG03486.hp2 HG03490.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0002c0002 a0005c0005 others(1): Show a0001c0001 a0002c0002 a0005c0005 a0006c0008	a0001c0001t0001 a0001c0001t0009 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0009 a0002c0002t0001 a0005c0005t0001 a0006c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0038 others(20): Show a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0009g0042 a0002c0002t0001g0006 a0002c0002t0001g0021 a0002c0002t0001g0024 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0109 a0002c0002t0001g0111 a0002c0002t0001g0113 a0005c0005t0001g0006 a0005c0005t0001g0024 a0006c0008t0001g0107	41	420	0.0976	-77	c.-66 others(86): Show c.-669_-593delTGTGTGTGTGTGTGGACACGGGTTGTCGCTATGTTG CCTACCTAGCTGGTACCCCATAACCACTCCTGGCTAGTGTG	AKIP1	ENSG00000166452.12	transcript	ENST00000309377.9	protein_coding		628		chr11	TogoVar
ALOXE3_chr17_8090900_8123514	8107888	AGAAAGAA others(70): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0411 a0001c0001t0004g0411	1	422	0.0024	-77	c.168 others(94): Show c.1684+503_1684+579delCTTCCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ANGPT2_chr8_6494632_6568245	6505349	TTCTTTCT others(70): Show TTCTTTCTATATGTATATAGAATATATATATTCTTTCTATATGTATATAG AATATATATATTCTTTATATACATAAAG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03239.hp1 HG03669.hp1 HG02055.hp2 HG03239.hp1 HG03669.hp1	a0001 a0001	a0001c0005 a0001c0008 a0001c0005 a0001c0008	a0001c0005t0002 a0001c0005t0021 a0001c0008t0002 a0001c0005t0002 a0001c0005t0021 a0001c0008t0002	a0001c0005t0002g0134 a0001c0005t0021g0026 a0001c0008t0002g0097 a0001c0005t0002g0134 a0001c0005t0021g0026 a0001c0008t0002g0097	3	336	0.0089	-77	c.132 others(96): Show c.1328-2165_1328-2089delCTTTATGTATATAAAGAATATATATA TTCTATATACATATAGAAAGAATATATATATTCTATATACATATAGAAAG A	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	8/8			chr8	TogoVar
ANKRD11_chr16_89262630_89495561	89306080	TACCTCCC others(70): Show TACCTCCCACTCCGCAGACACGCGCCACCTCCCACTCCGCAGACACGCCA CTTACCTCCCACTCCGCAGACACGCACC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02559.hp1 others(4): Show HG01891.hp2 HG02055.hp1 HG02559.hp1 HG02615.hp1 HG02970.hp2 HG03516.hp1 HG06807.hp2	a0001 a0010 a0001 a0010	a0001c0006 a0010c0014 a0001c0006 a0010c0014	a0001c0006t0001 a0001c0006t0003 a0010c0014t0003 a0001c0006t0001 a0001c0006t0003 a0010c0014t0003	a0001c0006t0001g0225 a0001c0006t0003g0001 a0001c0006t0003g0026 others(4): Show a0001c0006t0001g0225 a0001c0006t0003g0001 a0001c0006t0003g0026 a0001c0006t0003g0163 a0001c0006t0003g0175 a0010c0014t0003g0089 a0010c0014t0003g0271	7	310	0.0226	-77	c.88- others(90): Show c.88-813_88-737delGGTGCGTGTCTGCGGAGTGGGAGGTAAGTGGC GTGTCTGCGGAGTGGGAGGTGGCGCGTGTCTGCGGAGTGGGAGGT	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12			chr16	TogoVar
ANO7_chr2_241183677_241230976	241187758	AAGGAAGA others(70): Show AAGGAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGAAACGATAGGAGG AGGGGGAGTGGGGAGAAAGAGGAGGAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0003 a0005c0019t0003	a0005c0019t0003g0084 a0005c0019t0003g0084	1	396	0.0025	-77	c.-10 others(87): Show c.-1015_-939delAGGAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGA GAAACGATAGGAGGAGGGGGAGTGGGGAGAAAGAGGAGGAGG	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding		918		chr2	TogoVar
ANXA2_chr15_60342151_60402986	60366863	CGCCCGGC others(70): Show CGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGACCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG01358.hp2 others(1): Show HG00323.hp2 HG00639.hp1 HG01358.hp2 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0048 a0002c0002t0001g0157 others(1): Show a0002c0002t0001g0009 a0002c0002t0001g0048 a0002c0002t0001g0157 a0002c0002t0001g0161	4	334	0.0120	-77	c.149 others(94): Show c.149-2417_149-2341delAGAGGGGTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
APLF_chr2_68462585_68585162	68474233	TTTGGGTT others(70): Show TTTGGGTTTTTATGGAGTCATCGTTATTTAGTCATGATTGATTAAACCAT TGGGCATTAGTGATCAGCTAACCTTTAG	T T	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	176	0.0057	-77	c.96+ others(92): Show c.96+6407_96+6483delTTGGGTTTTTATGGAGTCATCGTTATTTAG TCATGATTGATTAAACCATTGGGCATTAGTGATCAGCTAACCTTTAG	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	1/9			chr2	TogoVar
APLP2_chr11_130064894_130149805	130091988	TCTCCTCA others(70): Show TCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCC CAGACGGGGTCTCGGCCGGGCAGAGGCG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0185 a0002c0003t0004g0185	1	274	0.0037	-77	c.106 others(96): Show c.106-17432_106-17356delTTCTCAGACGGGGCGGCCGGGCAGAG ACGCTCCTCACCTCCCAGACGGGGTCTCGGCCGGGCAGAGGCGCTCCTCA C	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGAP8_chr22_44747575_44867784	44813443	CACATACC others(70): Show CACATACCCACCTACAGTACATACACCCACATACAGACACCTACATGTAC ATACACTTACACCTACATACACATACAT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0005 a0002c0011t0005	a0002c0011t0005g0333 a0002c0011t0005g0333	1	390	0.0026	-77	c.300 others(94): Show c.300-1227_300-1151delCATACCCACCTACAGTACATACACCCAC ATACAGACACCTACATGTACATACACTTACACCTACATACACATACATA	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ARHGEF1_chr19_41878184_41912452	41893332	TCCTGGGT others(70): Show TCCTGGGTTTGAGGGAGGAGGGGGCTGAGGGCCTGGACTCCTGGGTCTGA GGGAGGAGGAGGCTGGGGGGCCTGGACG	T T	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0039 a0001c0002t0002g0039	1	234	0.0043	-77	c.644 others(91): Show c.644+37_644+113delTTGAGGGAGGAGGGGGCTGAGGGCCTGGACT CCTGGGTCTGAGGGAGGAGGAGGCTGGGGGGCCTGGACGCCTGGGT	ARHGEF1	ENSG00000076928.20	transcript	ENST00000354532.8	protein_coding	8/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF1_chr19_41878184_41912452	41893661	AGGCTGGG others(70): Show AGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGGCTGGGGGGC CTGGACGTCTGGGTCTGAGGGAGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	234	0.0043	-77	c.644 others(92): Show c.644+368_644+444delCCTGGACTCCTGGGTCTGAGGGAGGAAGGG GCTGGGGGGCCTGGACGTCTGGGTCTGAGGGAGGAGGGGGCTGGGGG	ARHGEF1	ENSG00000076928.20	transcript	ENST00000354532.8	protein_coding	8/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ASB5_chr4_176208673_176274222	176219367	ATATTTGT others(70): Show ATATTTGTATGATATATAAATATATATATTTGTATGATATATAAATATAT ATATGTATGATATATAAATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00544.hp1 others(39): Show HG00099.hp2 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG01243.hp2 HG01261.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01943.hp1 HG02071.hp2 HG02080.hp2 HG03225.hp1 HG03942.hp2 NA18747.hp2 NA18943.hp2 NA18946.hp2 NA18947.hp1 NA18951.hp2 NA18955.hp2 NA18960.hp2 NA18971.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp2 NA18989.hp1 NA18995.hp1 NA19001.hp1 NA19002.hp2 NA19007.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19080.hp1 NA20752.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0004 a0007c0013 a0001c0001 a0001c0004 a0007c0013	a0001c0001t0001 a0001c0004t0001 a0007c0013t0010 a0001c0001t0001 a0001c0004t0001 a0007c0013t0010	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0016 others(35): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0060 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0234 a0001c0001t0001g0253 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0320 a0001c0001t0001g0323 a0001c0001t0001g0363 a0001c0004t0001g0200 a0001c0004t0001g0203 a0007c0013t0010g0033	42	410	0.1024	-77	c.670 others(94): Show c.670+1711_670+1787delAATATATATATTTATATATCATACATAT ATATATTTATATATCATACAAATATATATATTTATATATCATACAAATA	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145208	AAAGAAAG others(70): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAG AAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA19000.hp1 HG01943.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0127 a0001c0001t0001g0082 a0001c0001t0001g0127	2	360	0.0056	-77	c.639 others(94): Show c.639+2257_639+2333delGAAAGAAAGAAAGAAAGAAAGAAAGAGA GAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP9B_chr18_79064394_79383283	79072961	CGGGCAGA others(70): Show CGGGCAGAGACGCTCCTCACTTCCTAGACGGGATGACGGCCAGGAAGAGG CGCTCCTCACTTCCCAGACTGGGCGGCG	C C	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0263 a0002c0002t0002g0263	1	298	0.0034	-77	c.119 others(94): Show c.119+3441_119+3517delACGCTCCTCACTTCCTAGACGGGATGAC GGCCAGGAAGAGGCGCTCCTCACTTCCCAGACTGGGCGGCGGGGCAGAG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79246110	CCTACTGA others(70): Show CCTACTGACTGCGGAGGGCACCGCCCTACTGTCTGTGCGGAGGGCACCGC CCTACTGACTGAGGAGGGCACCGCCCTA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp1 HG01071.hp1 others(19): Show HG00099.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01167.hp1 HG01243.hp1 HG02257.hp2 HG02293.hp2 HG02723.hp2 HG02735.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03486.hp1 HG03540.hp1 HG06807.hp2 NA18522.hp1 NA19030.hp1 NA19030.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0010	a0001c0001 a0001c0006 a0001c0024 others(6): Show a0001c0001 a0001c0006 a0001c0024 a0003c0007 a0003c0020 a0003c0021 a0004c0008 a0004c0036 a0010c0029	a0001c0001t0001 a0001c0006t0007 a0001c0024t0004 others(6): Show a0001c0001t0001 a0001c0006t0007 a0001c0024t0004 a0003c0007t0004 a0003c0020t0004 a0003c0021t0004 a0004c0008t0001 a0004c0036t0001 a0010c0029t0004	a0001c0001t0001g0100 a0001c0001t0001g0118 a0001c0006t0007g0290 others(18): Show a0001c0001t0001g0100 a0001c0001t0001g0118 a0001c0006t0007g0290 a0001c0024t0004g0058 a0003c0007t0004g0278 a0003c0007t0004g0279 a0003c0007t0004g0280 a0003c0007t0004g0282 a0003c0007t0004g0283 a0003c0007t0004g0287 a0003c0007t0004g0288 a0003c0020t0004g0289 a0003c0021t0004g0284 a0004c0008t0001g0001 a0004c0008t0001g0269 a0004c0008t0001g0270 a0004c0008t0001g0272 a0004c0008t0001g0274 a0004c0008t0001g0275 a0004c0036t0001g0271 a0010c0029t0004g0220	22	298	0.0738	-77	c.110 others(96): Show c.1108-7268_1108-7192delACTGACTGCGGAGGGCACCGCCCTAC TGTCTGTGCGGAGGGCACCGCCCTACTGACTGAGGAGGGCACCGCCCTAC T	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRN_chr20_3466018_3656118	3476968	TGTTCACA others(70): Show TGTTCACAAGTCCAGTTTAGGCTGATCTGCTTTCCCCAGTGCAATGTAAG TTCCATGAGGGCAGGGGCCTGGAGCATA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0136 a0001c0001t0013g0136	1	220	0.0046	-77	c.410 others(94): Show c.410+5597_410+5673delTGGAGCATAGTTCACAAGTCCAGTTTAG GCTGATCTGCTTTCCCCAGTGCAATGTAAGTTCCATGAGGGCAGGGGCC	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3477547	GCAATGTA others(70): Show GCAATGTAAGTTCCATGAGGGCAGGGGCCTGGAGCATAGTTCACAAGTCC AGTTTAGGCTGATCTGCTTTCCCCAGTA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0025 a0001c0001t0010g0025	1	220	0.0046	-77	c.410 others(94): Show c.410+6107_410+6183delACAATGTAAGTTCCATGAGGGCAGGGGC CTGGAGCATAGTTCACAAGTCCAGTTTAGGCTGATCTGCTTTCCCCAGT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
B3GNTL1_chr17_82937149_83056770	83015123	GTCTGCGG others(70): Show GTCTGCGGTGAGGACCTGCCACCACTGTGGAGGGGACCGTCTGCGGTGAG GACCTGCCACCACTGTGGAGGGGGACCA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01516.hp1 HG00741.hp2 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0153 a0001c0001t0006g0159 a0001c0001t0006g0153 a0001c0001t0006g0159	2	266	0.0075	-77	c.298 others(92): Show c.298-681_298-605delTGGTCCCCCTCCACAGTGGTGGCAGGTCCT CACCGCAGACGGTCCCCTCCACAGTGGTGGCAGGTCCTCACCGCAGA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83031239	GACGGCCG others(70): Show GACGGCCGCCAGAGCACCCACGGGTCCCTCGCAGGACCAGAGTCACGTTT TCCAGCGGGGAAGGGTGTAAACTCAGCA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0070 a0001c0002t0006g0070	1	266	0.0038	-77	c.297 others(94): Show c.297+3719_297+3795delTGCTGAGTTTACACCCTTCCCCGCTGGA AAACGTGACTCTGGTCCTGCGAGGGACCCGTGGGTGCTCTGGCGGCCGT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B4GALNT3_chr12_454939_568509	512116	ACCTTCGA others(70): Show ACCTTCGAGCTTCCACCTTCCACCTTCCACCTTCCGCCTTCCGCCTTCCA CCTTCCGCCTTCCGCCTTCCACCTTCCG	A A	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0014 a0004c0005t0014	a0004c0005t0014g0290 a0004c0005t0014g0290	1	394	0.0025	-77	c.170 others(96): Show c.170-23044_170-22968delGAGCTTCCACCTTCCACCTTCCACCT TCCGCCTTCCGCCTTCCACCTTCCGCCTTCCGCCTTCCACCTTCCGCCTT C	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
BAD_chr11_64264830_64289665	64270855	GGCCTGGA others(70): Show GGCCTGGAGTGGGATCTAGACTACAGATCCCAGCATGCCCTGTGAGACAC ACACACACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	388	0.0026	-77	c.379 others(92): Show c.379-595_379-519delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTCTCACAGGGCATGCTGGGATCTGTAGTCTAGATCCCACTCCAGGC	BAD	ENSG00000002330.14	transcript	ENST00000309032.8	protein_coding	3/3			chr11	TogoVar
BAD_chr11_64264830_64289665	64271219	ACACACAC others(70): Show ACACACACACACACACACACACACACACACGCCTGGAGTGGGATCTAGAC TACAGATCCCAGCATGCCCTGTGACTCT	A A	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0289 a0001c0002t0001g0289	1	388	0.0026	-77	c.378 others(92): Show c.378+317_378+393delAGAGTCACAGGGCATGCTGGGATCTGTAGT CTAGATCCCACTCCAGGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	BAD	ENSG00000002330.14	transcript	ENST00000309032.8	protein_coding	3/3			chr11	TogoVar
BBS4_chr15_72681207_72743473	72725845	ATCCCCCT others(70): Show ATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCT TTCCCCATCCCCCTTTCCCCATCCCCCT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG04184.hp1 HG02976.hp2 HG04184.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0008 a0002c0002 a0009c0008	a0002c0002t0001 a0009c0008t0001 a0002c0002t0001 a0009c0008t0001	a0002c0002t0001g0193 a0009c0008t0001g0289 a0002c0002t0001g0193 a0009c0008t0001g0289	2	398	0.0050	-77	c.587 others(94): Show c.587+1204_587+1280delATCCCCCTTTCCCCATCCCCCTTTCCCC ATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTCCCCCTTTCCCC	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BCL9_chr1_147536501_147631216	147541110	AGAGAGAG others(70): Show AGAGAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGTGTGTGTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01934.hp1 HG02080.hp1 others(14): Show HG00639.hp1 HG01934.hp1 HG02080.hp1 HG02602.hp2 HG02738.hp2 NA18960.hp2 NA18972.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18994.hp2 NA18999.hp2 NA19009.hp2 NA19083.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020 a0001c0001t0025 a0002c0002t0002	a0001c0001t0002g0252 a0001c0001t0002g0258 a0001c0001t0003g0020 others(13): Show a0001c0001t0002g0252 a0001c0001t0002g0258 a0001c0001t0003g0020 a0001c0001t0003g0254 a0001c0001t0003g0261 a0001c0001t0009g0246 a0001c0001t0010g0253 a0001c0001t0012g0241 a0001c0001t0012g0243 a0001c0001t0020g0245 a0001c0001t0025g0239 a0002c0002t0002g0247 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0267 a0002c0002t0002g0279	17	316	0.0538	-77	c.-10 others(87): Show c.-1041_-965delGAGAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGTGTGTGTGT	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding		390		chr1	TogoVar
BCL9_chr1_147536501_147631216	147541112	AGAGAGAG others(70): Show AGAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGTGTGTGTGTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02647.hp2 HG02896.hp2 others(1): Show HG02055.hp1 HG02647.hp2 HG02896.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 others(1): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015	a0001c0001t0006g0264 a0001c0001t0008g0196 a0001c0001t0009g0266 others(1): Show a0001c0001t0006g0264 a0001c0001t0008g0196 a0001c0001t0009g0266 a0001c0001t0015g0198	4	316	0.0127	-77	c.-10 others(87): Show c.-1039_-963delGAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGT	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding		388		chr1	TogoVar

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