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
SKI_chr1_2223319_2315213	2281129	C C	CTGAGAGG others(212): Show CTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATC TTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG AGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGA TGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAG ATCTTCAGAGAGAAGACACG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0162 a0001c0001t0007g0162	1	330	0.0030	219	c.970 others(238): Show c.970-21849_970-21848insTGAGAGGACAGGCGGTGGCGGAGATC TTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACA GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTG GCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAG ATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2281773	C C	CGCCCGAG others(212): Show CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCG AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGAC AGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGG TGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGTGGTGGCGG AGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	330	0.0030	219	c.970 others(238): Show c.970-21165_970-21164insAGATGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA GAGAGAGATGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGA GATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC2A5_chr1_9030106_9074635	9053317	A A	ATATATTT others(212): Show ATATATTTATATATATTATATATTTATATATTATATATATTTATATATAT TATATATTTATATATTATATATATTTATATATATTATATATTTATATATT ATATATATTTATATATATTATATATATTATATATTTATATATTATATATA TTTATATATATTATATATTTATATATTATATATATTTATATATATTATAT ATTTATATATTATATATATT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp2 HG02622.hp2 others(1): Show HG02572.hp1 HG02615.hp2 HG02622.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0015 a0001c0001t0001 a0001c0009t0015	a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0248 others(1): Show a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0248 a0001c0009t0015g0223	4	336	0.0119	219	c.293 others(236): Show c.293+4130_293+4131insAATATATATAATATATAAATATATAATA TATATAAATATATATAATATATAAATATATAATATATATAAATATATATA ATATATAAATATATAATATATATAATATATATAAATATATATAATATATA AATATATAATATATATAAATATATATAATATATAAATATATAATATATAT AAATATATATAATATATAAATATATAATATATATAAATATA	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC2A5_chr1_9030106_9074635	9053317	A A	ATATATTT others(212): Show ATATATTTATATATATTATATATTTATATATTATATATATTTATATATAT TATATATTTATATATTATATATATTTATATATATTATATATTTATATATT ATATATATTTATATATATTATATATATTATATATTTATATATTATATATA TTTATATATATTATATATTTATATATTATATATATTTTTATATATTATAT ATTTATATATTATATATATT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	336	0.0030	219	c.293 others(236): Show c.293+4130_293+4131insAATATATATAATATATAAATATATAATA TATAAAAATATATATAATATATAAATATATAATATATATAAATATATATA ATATATAAATATATAATATATATAATATATATAAATATATATAATATATA AATATATAATATATATAAATATATATAATATATAAATATATAATATATAT AAATATATATAATATATAAATATATAATATATATAAATATA	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLCO3A1_chr15_91848708_92170903	92143467	T T	TAATATAT others(212): Show TAATATATATATTATATATAATATATATAAAATATATATATTATATATAA TATATATAAAATATATATTATATATAATATATATATTATATATAATATAT ATAAAATATATATATTATATATAATATATATAAAATATATATATATAAAA AATATATATTATATAATATATATAAAATATATATATTATATAATATATAT ATATAATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0129 a0002c0003t0001g0129	1	190	0.0053	219	c.151 others(238): Show c.1513-3515_1513-3514insTATATATATTATATATAATATATATA AAATATATATATTATATATAATATATATAAAATATATATTATATATAATA TATATATTATATATAATATATATAAAATATATATATTATATATAATATAT ATAAAATATATATATATAAAAAATATATATTATATAATATATATAAAATA TATATATTATATAATATATATATATAATATATATATATATAAA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMCO1_chr3_196501879_196520346	196511899	G G	GATTGTCC others(212): Show GATTGTCCTTATGAGGGAAACCTGCCTGGGCCGCCTAGATTGTCCTTATG AGGGAAACCTGCCTGGGCCGCCTAGATTGTCGTTATGAGGGAAACCTGCC TGGGCCGCCTAGATTGTCGTTATGAGGGAAACCTGCCTGGGCCGCCTAGA TTGTCCTTATGAGGGAAACCTGCCTGGGCCGCCTAGATTGTCCTTATGAG GGAAACCTGCCTGGGCCGCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0062 a0001c0007t0003g0062	1	398	0.0025	219	c.51- others(234): Show c.51-2231_51-2230insGGCGGCCCAGGCAGGTTTCCCTCATAAGGA CAATCTAGGCGGCCCAGGCAGGTTTCCCTCATAAGGACAATCTAGGCGGC CCAGGCAGGTTTCCCTCATAACGACAATCTAGGCGGCCCAGGCAGGTTTC CCTCATAACGACAATCTAGGCGGCCCAGGCAGGTTTCCCTCATAAGGACA ATCTAGGCGGCCCAGGCAGGTTTCCCTCATAAGGACAAT	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding	1/2			chr3	TogoVar
SP100_chr2_230411201_230550606	230499512	A A	ATATATAT others(212): Show ATATATATAGATAGATATATATTTTTATATATATATTTATATAAATATAT ATATCTAGATATATATCTATCTATATATATTTATATATATAAATATATAT ATTTATTTTTTTATATATAAAATATATATATTTATATATATATTTTATAT ATATAGATATATATATCTATATATTTATTTCCTTTGGCTATGAATTCCCC CACTAGAATGGCAGAAGCAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(49): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp1 HG01358.hp1 HG01496.hp2 HG01516.hp1 HG01891.hp1 HG01981.hp2 HG02074.hp2 HG02132.hp1 HG02148.hp2 HG02155.hp2 HG02258.hp2 HG02293.hp1 HG02523.hp2 HG02559.hp2 HG02735.hp1 HG02809.hp2 HG03239.hp1 HG03669.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18957.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA19002.hp2 NA19003.hp2 NA19009.hp1 NA19010.hp1 NA19055.hp2 NA19067.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19087.hp2 NA20129.hp2 NA20752.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0011	a0001c0001 a0001c0003 a0003c0004 others(2): Show a0001c0001 a0001c0003 a0003c0004 a0005c0008 a0011c0011	a0001c0001t0003 a0001c0003t0003 a0001c0003t0008 others(3): Show a0001c0001t0003 a0001c0003t0003 a0001c0003t0008 a0003c0004t0003 a0005c0008t0003 a0011c0011t0003	a0001c0001t0003g0028 a0001c0001t0003g0055 a0001c0001t0003g0069 others(49): Show a0001c0001t0003g0028 a0001c0001t0003g0055 a0001c0001t0003g0069 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0076 a0001c0001t0003g0084 a0001c0001t0003g0093 a0001c0001t0003g0142 a0001c0001t0003g0199 a0001c0003t0003g0021 a0001c0003t0003g0062 a0001c0003t0003g0109 a0001c0003t0003g0138 a0001c0003t0003g0182 a0001c0003t0003g0184 a0001c0003t0003g0187 a0001c0003t0003g0197 a0001c0003t0003g0202 a0001c0003t0003g0213 a0001c0003t0003g0226 a0001c0003t0003g0274 a0001c0003t0003g0289 a0001c0003t0008g0255 a0001c0003t0008g0256 a0003c0004t0003g0015 a0003c0004t0003g0060 a0003c0004t0003g0061 a0003c0004t0003g0080 a0003c0004t0003g0102 a0003c0004t0003g0111 a0003c0004t0003g0113 a0003c0004t0003g0115 a0003c0004t0003g0132 a0003c0004t0003g0136 a0003c0004t0003g0141 a0003c0004t0003g0145 a0003c0004t0003g0161 a0003c0004t0003g0164 a0003c0004t0003g0188 a0003c0004t0003g0208 a0003c0004t0003g0218 a0003c0004t0003g0238 a0003c0004t0003g0240 a0003c0004t0003g0254 a0003c0004t0003g0262 a0003c0004t0003g0264 a0003c0004t0003g0265 a0003c0004t0003g0266 a0003c0004t0003g0272 a0005c0008t0003g0002 a0011c0011t0003g0085	52	290	0.1793	219	c.172 others(236): Show c.1720+978_1720+979insATATATAGATAGATATATATTTTTATAT ATATATTTATATAAATATATATATCTAGATATATATCTATCTATATATAT TTATATATATAAATATATATATTTATTTTTTTATATATAAAATATATATA TTTATATATATATTTTATATATATAGATATATATATCTATATATTTATTT CCTTTGGCTATGAATTCCCCCACTAGAATGGCAGAAGCAGT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230499512	A A	ATATATAT others(212): Show ATATATATAGATAGATATATATTTTTATATATATATTTATATATATAAAT ATATATAGATAGATATCTATCTATATATACTTATATATATAAATATATAT ATTTATTTTTTTATATATAAAATATATATATTTATATATATATTTTATAT ATATAGATATATATATCTATATATTTATTTCCTTTGGCTATGAATTCCCC CACTAGAATGGCAGAAGCAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01106.hp1 HG01256.hp2 others(26): Show HG00738.hp2 HG01106.hp1 HG01256.hp2 HG01258.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01978.hp2 HG02055.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02723.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 NA19043.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0009	a0001c0001 a0001c0003 a0001c0009 others(5): Show a0001c0001 a0001c0003 a0001c0009 a0002c0005 a0002c0020 a0003c0004 a0005c0013 a0009c0018	a0001c0001t0004 a0001c0001t0007 a0001c0001t0021 others(10): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0021 a0001c0001t0022 a0001c0003t0004 a0001c0003t0007 a0001c0003t0012 a0001c0009t0007 a0002c0005t0013 a0002c0020t0023 a0003c0004t0004 a0005c0013t0025 a0009c0018t0004	a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0095 others(26): Show a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0095 a0001c0001t0004g0175 a0001c0001t0004g0271 a0001c0001t0007g0078 a0001c0001t0007g0172 a0001c0001t0007g0259 a0001c0001t0021g0287 a0001c0001t0022g0088 a0001c0003t0004g0248 a0001c0003t0007g0054 a0001c0003t0007g0110 a0001c0003t0007g0114 a0001c0003t0007g0135 a0001c0003t0007g0249 a0001c0003t0007g0250 a0001c0003t0012g0041 a0001c0003t0012g0044 a0001c0003t0012g0045 a0001c0003t0012g0246 a0001c0003t0012g0258 a0001c0009t0007g0273 a0002c0005t0013g0105 a0002c0020t0023g0035 a0003c0004t0004g0050 a0003c0004t0004g0247 a0005c0013t0025g0160 a0009c0018t0004g0042	29	290	0.1000	219	c.172 others(236): Show c.1720+978_1720+979insATATATAGATAGATATATATTTTTATAT ATATATTTATATATATAAATATATATAGATAGATATCTATCTATATATAC TTATATATATAAATATATATATTTATTTTTTTATATATAAAATATATATA TTTATATATATATTTTATATATATAGATATATATATCTATATATTTATTT CCTTTGGCTATGAATTCCCCCACTAGAATGGCAGAAGCAGT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(212): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACCCTCCC CCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTC CCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	418	0.0024	219	c.54 others(230): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(212): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACCCTCCC CCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTC CCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	219	c.54 others(230): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(212): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGAG GGGAGGGGAGGGGAGGTGAGGGGCTGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGGAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	260	0.0039	219	c.138 others(238): Show c.1384-5708_1384-5707insCTCCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCAGCCCCTCACCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCK3_chr4_166728384_167239494	167109065	T T	TATACTTA others(212): Show TATACTTATATAAAAATATATATAAATATATACTTATATAAAAATATATA TAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAAAA TATATATAAATATATATTTATATAAATATATATAAATATATATTTATATA AAAATATATATAAATATATATTTATATAAAAATATATATAAATATATATT TATATAAAAATATATATAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03041.hp2 HG02615.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0012 a0001c0002t0002g0075 a0001c0001t0003g0012 a0001c0002t0002g0075	2	144	0.0139	219	c.190 others(238): Show c.190-46529_190-46528insTTTATATATATTTTTATATAAATATA TATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATATA AATATATATTTATATATATTTATATAAATATATATTTATATATATTTTTA TATAAATATATATTTATATATATTTTTATATAAATATATATTTATATATA TTTTTATATAAGTATATATTTATATATATTTTTATATAAGTAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167109065	T T	TATACTTA others(212): Show TATACTTATATAAAAATATATATAAATATATATTTATATAAAAATATATA TAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAAAA TATATATAAATATATATTTATATAAAAATATATATAAATATATATTTATA TAAATATATATAAATATATATTTATATAAAAATATATATAAATATATATT TATATAAAAATATATATAAA	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	144	0.0069	219	c.190 others(238): Show c.190-46529_190-46528insTTTATATATATTTTTATATAAATATA TATTTATATATATTTTTATATAAATATATATTTATATATATTTATATAAA TATATATTTATATATATTTTTATATAAATATATATTTATATATATTTTTA TATAAATATATATTTATATATATTTTTATATAAATATATATTTATATATA TTTTTATATAAATATATATTTATATATATTTTTATATAAGTAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167109065	T T	TATACTTA others(212): Show TATACTTATATAAAAATATATATAAATATATATTTATATAAAAATATATA TAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAAAA TATATATAAATATATATTTATATAAATATATATAAATATATATTTATATA AAAATATATATAAATATATATTTATATAAAAATATATATAAATATATATT TATATAAAAATATATATAAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	144	0.0069	219	c.190 others(238): Show c.190-46529_190-46528insTTTATATATATTTTTATATAAATATA TATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATATA AATATATATTTATATATATTTATATAAATATATATTTATATATATTTTTA TATAAATATATATTTATATATATTTTTATATAAATATATATTTATATATA TTTTTATATAAATATATATTTATATATATTTTTATATAAGTAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
TAF4_chr20_61969798_62070881	62057739	G G	GGGGGCCA others(212): Show GGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACACA CCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAG GAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCTCGGG GGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCA GGCCACAGACAATGGGGCTC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0219 a0001c0005t0001g0219	1	314	0.0032	219	c.136 others(238): Show c.1360+6711_1360+6712insGAGCCCCATTGTCTGTGGCCTGGTGT GTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCGAG CCCCATTGTCTGTGGCCTGGTGTGTAGGCCTGTGTCCGTCCTTCCTGAGG TCTTGCTGAGGTTGGCCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTA GGCCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	62057813	G G	GGGGGGCC others(212): Show GGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACAC ACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAG GAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGG GGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCA GGCCACAGACAATGGGGCTC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0278 a0001c0002t0001g0278	1	314	0.0032	219	c.136 others(238): Show c.1360+6637_1360+6638insGAGCCCCATTGTCTGTGGCCTGGTGT GTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCGAG CCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAGG TCTTGCTGAGGTTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAG GCCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TBC1D2B_chr15_77989985_78082711	77992793	C C	CCCCACTC others(212): Show CCCCACTCCCCCCCACTCCCCCCACTCCCCCCCACTCCCCCCCACTCCCC CCACTCCCCCCCACTCCCCCCCACTCCCCCCCCACTCCACTCCCCCCCAC TCCCCCCCCACTCCCCCCCCACTCCACTCCCCCCCACTCCCCCCCCACTC CACTCCCCCCCACTCCCCCCCACTCCCCCCACTCCCCCCCACTCCCCCCA CTCCCCCCACTCCCCCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0181 a0001c0001t0012g0181	1	280	0.0036	219	c.53 others(230): Show c.5366_*5367insTGGGGGGGGAGTGGGGGGAGTGGGGGGAGTGGGG GGGAGTGGGGGGAGTGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGGAG TGGGGGGGAGTGGAGTGGGGGGGGAGTGGGGGGGGAGTGGGGGGGAGTGG AGTGGGGGGGGAGTGGGGGGGAGTGGGGGGGAGTGGGGGGAGTGGGGGGG AGTGGGGGGGAGTGGGGGGAGTGGGGGGGAGTGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2191		chr15	TogoVar
TBCD_chr17_82747065_82950914	82785405	G G	GACCCATC others(212): Show GACCCATCGCAGCGGGAGGGGGGGTCCATGCTGTGTGACTGGGACCACTG GACCCGACCCATCGCAGCGGGAGGGGGGGTCCATGCTGTGTGACTGGGAC CACTGGATCCCACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTG GGACCACTGGATCCCACCCATCGCAGCGGGAGGGGGGGTCCATGCTGTGT GACTGGGACCACTGGATCCC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0309 a0001c0001t0002g0309	1	318	0.0031	219	c.771 others(236): Show c.771+3706_771+3707insGTCCATGCTGTGTGACTGGGACCACTGG ACCCGACCCATCGCAGCGGGAGGGGGGGTCCATGCTGTGTGACTGGGACC ACTGGATCCCACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGG GACCACTGGATCCCACCCATCGCAGCGGGAGGGGGGGTCCATGCTGTGTG ACTGGGACCACTGGATCCCACCCATCGCAGCGGGAGGGGGG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	7/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCE_chr1_235362427_235457443	235412192	T T	TCCCTTCC others(212): Show TCCCTTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCCCCTCCCTTCCC CCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCC CTTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCCTCCCCCC TCCTCTCCCTTCCCCCCTCCCCCCTCCCCCTCCCCCCCTCCCCCCGTCCC CTCCTCTCCCCTCCCCCCTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0161 a0001c0001t0006g0161	1	268	0.0037	219	c.186 others(236): Show c.186-2238_186-2237insTTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCT CCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCTCCCCCCTCCCCCCTC CCCTCCCCCCCTCCCCCCTCCTCTCCCTTCCCCCCTCCCCCCTCCCCCTC CCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TERT_chr5_1248167_1300068	1273699	C C	CCACACAT others(212): Show CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATC CACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACAC ATCAGACCCCACAACCGCCATCCACAGTCACCACACATCAGACCCCCACA ACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0147 a0001c0005t0001g0150 a0001c0005t0001g0147 a0001c0005t0001g0150	2	392	0.0051	219	c.228 others(238): Show c.2287-1420_2287-1419insTGGTGACTGTGGATGGCGGTTGTGGG GGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGC GGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THNSL2_chr2_88165346_88191627	88181097	T T	TCTCTCCC others(212): Show TCTCTCCCTCTCTCTCCTCTCTCATCCTCTCTCTCCTCTCCTCTCTCTCT CTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCCCTCTCTCTCTCTCCTCTC TCTCCTCTCTTCTCCTCTTCCTCTCTCTCTCCTCTCTCTCCCTCTCTTCC TCCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCT CCTCTCTCTCTCCCTCTCTC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0033 a0001c0001t0011g0033	1	54	0.0185	219	c.803 others(236): Show c.803-1596_803-1595insCTCTCTCTCCTCTCTCATCCTCTCTCTC CTCTCCTCTCTCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCCCTC TCTCTCTCTCCTCTCTCTCCTCTCTTCTCCTCTTCCTCTCTCTCTCCTCT CTCTCCCTCTCTTCCTCCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCT CTCTCCTCTCTCTCTCCTCTCTCTCTCCCTCTCTCCTCTCC	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMPRSS9_chr19_2355265_2431261	2418966	T T	TTCCCTCC others(212): Show TTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCC CTCCCGCCCTCTCCTTCCCTTCCCTCCCACCGTCTCCTTCCCTCCCTCCC TCCCTCTCCTTCCCTTCCCTCCCACCCTCTCCTTCCCTTCCCTCCCGCCC TCTCCTTCCCTTCCCTCCCACCGTCTCCTTCCCTCCCTCCCTCCCTCTCC TTCCCTTCCCTCCCACCCTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	114	0.0088	219	c.215 others(236): Show c.2154+828_2154+829insTCCCTCCCGCCCTCTCCTTCCCTTCCCT CCCGCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCA CCGTCTCCTTCCCTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCACCCTC TCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCACCGTCTCCT TCCCTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCACCCTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18			chr19	TogoVar
TP53AIP1_chr11_128930370_128947871	128930709	C C	CTGGGGTT others(212): Show CTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGG TTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGG AGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC AGGGTAGGGAGGCCGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTA GGGAGGCCAGGGTAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	466	0.0022	219	c.48 others(230): Show c.4881_*4882insCCTCCCTACCCTGGCCTCCCTAACCCCAGCCTCC CTACCCTGGCCTCCCTAACCCCGGCCTCCCTACCCTGGCCTCCCTAACCC CGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCC TCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCTA CCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4660		chr11	TogoVar
TRIML1_chr4_188134441_188152743	188152041	A A	AGAGGGGG others(212): Show AGAGGGGGTTGAGAAGGGGATTGAGAGAGAGGGTGAGAAGGGGAGTGAGA ATGGGGTTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGT GGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGG GGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGG TTGAGAAGGGGAGTGAGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	228	0.0044	219	c.46 others(230): Show c.4669_*4670insGAGGGGGTTGAGAAGGGGATTGAGAGAGAGGGTG AGAAGGGGAGTGAGAATGGGGTTGAGAAGGGGAGTGAGAGAGGGGTTGAG AAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAA GGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGG GGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGT	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4299		chr4	TogoVar
TRPM4_chr19_49152792_49216836	49167755	T T	TCTCTGGG others(212): Show TCTCTGGGTCTCTGTCCCTCTCTCTCTGGGTCTCTGTCCCCGTCTCTCTG GGTCTCTGTCCCCGTCTCTCTGGGTCTCTGTCCCTCTCTCTCTGGGTCTC TGTCGCCATCTCTCTGGGTCTCTGTCCCATGTCTCTGGGTCTCTGTCCCT CTCTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTTTGTCCCCGTCTCT CTGGGTCTCTGTCCCCATCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01106.hp1 others(19): Show HG00099.hp1 HG00140.hp1 HG01106.hp1 HG01175.hp2 HG01358.hp2 HG01952.hp1 HG02004.hp2 HG02129.hp2 HG02559.hp2 HG02698.hp1 HG02738.hp2 HG03017.hp1 HG03239.hp2 HG03491.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG04115.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0015 a0001c0001 a0001c0003 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0005c0015t0002	a0001c0001t0001g0135 a0001c0001t0001g0155 a0001c0001t0001g0156 others(19): Show a0001c0001t0001g0135 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0211 a0001c0001t0001g0226 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0002g0006 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0065 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0082 a0001c0003t0002g0048 a0005c0015t0002g0057 a0005c0015t0002g0081	22	312	0.0705	219	c.268 others(234): Show c.268-145_268-144insTCTCTCTCTGGGTCTCTGTCCCCGTCTCTC TGGGTCTCTGTCCCCGTCTCTCTGGGTCTCTGTCCCTCTCTCTCTGGGTC TCTGTCGCCATCTCTCTGGGTCTCTGTCCCATGTCTCTGGGTCTCTGTCC CTCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTTTGTCCCCGTCT CTCTGGGTCTCTGTCCCCATCCCTCTGGGTCTCTGTCCC	TRPM4	ENSG00000130529.16	transcript	ENST00000252826.10	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr19	TogoVar
TRUB1_chr10_114933195_114982676	114935166	T T	TGCTAAAC others(212): Show TGCTAAACCATTCACGAGGGGTCCACTCCTGTGACCCAATCACCTACCAC CAGGCCCAACCTCCAACACTGGGAGCTAAACCATTCACGAGGGGTCCACT CCTGTGACCCAATCACCTACCACCAGGCCCAACCTCCAACACTGGGAGCT AAACCATTCACGAGGGGTCCACTCCTGTGACCCAATCACCTACCACCAGG CCCAACCTCCAACACTGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01257.hp1 HG01258.hp1 others(34): Show HG01123.hp1 HG01257.hp1 HG01258.hp1 HG01433.hp1 HG01891.hp2 HG02055.hp2 HG02145.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0002c0002t0002	a0001c0001t0002g0011 a0001c0001t0002g0023 a0001c0001t0002g0061 others(24): Show a0001c0001t0002g0011 a0001c0001t0002g0023 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0003g0017 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0006g0022 a0001c0001t0006g0087 a0001c0001t0006g0088 a0001c0001t0006g0089 a0001c0001t0009g0018 a0001c0001t0009g0075 a0002c0002t0002g0006	37	238	0.1555	219	c.-30 others(230): Show c.-3088_-3087insGCTAAACCATTCACGAGGGGTCCACTCCTGTGAC CCAATCACCTACCACCAGGCCCAACCTCCAACACTGGGAGCTAAACCATT CACGAGGGGTCCACTCCTGTGACCCAATCACCTACCACCAGGCCCAACCT CCAACACTGGGAGCTAAACCATTCACGAGGGGTCCACTCCTGTGACCCAA TCACCTACCACCAGGCCCAACCTCCAACACTGGGA	TRUB1	ENSG00000165832.6	transcript	ENST00000298746.5	protein_coding		3028		chr10	TogoVar
TRUB1_chr10_114933195_114982676	114935471	A A	ACGAGGGG others(212): Show ACGAGGGGTCCACTCCTGTGACCCAATCACCTACCACCAGGCCCAACCTC CAACACTGGGAGCTAAACCATTCACGAGGGGTCCACTCCTGTGACCCAAT CACCTACCACCAGGCCCAACCTCCAACACTGGGAGCTAAACCATTCACGA GGGGTCCACTCCTGTGACCCAATCACCTACCACCAGGCCCAACCTCCAAC ACTGGGAGCTAAACCATTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	238	0.0042	219	c.-27 others(230): Show c.-2783_-2782insCGAGGGGTCCACTCCTGTGACCCAATCACCTACC ACCAGGCCCAACCTCCAACACTGGGAGCTAAACCATTCACGAGGGGTCCA CTCCTGTGACCCAATCACCTACCACCAGGCCCAACCTCCAACACTGGGAG CTAAACCATTCACGAGGGGTCCACTCCTGTGACCCAATCACCTACCACCA GGCCCAACCTCCAACACTGGGAGCTAAACCATTCG	TRUB1	ENSG00000165832.6	transcript	ENST00000298746.5	protein_coding		2723		chr10	TogoVar
TTLL8_chr22_50013575_50063298	50028631	T T	TACCCTCG others(212): Show TACCCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACT CGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAG ACCCCATCACACCATCCTAAAGACCCCCACACACACTCGTAAAGACCCCC ATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCCATCACA CCATCCTGAAGACCCCACAC	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18612.hp2 NA18966.hp1 HG02129.hp1 NA18612.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0119 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0119	3	224	0.0134	219	c.225 others(238): Show c.2251+1798_2251+1799insGTGTGGGGTCTTCAGGATGGTGTGAT GGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGT CTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTGTGATGGGGTCTTTAC GAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTG TGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGGGT	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028762	T T	TACCCTCG others(212): Show TACCCTCGTAAAGACCCCCATCACACCATCCTAAAGACCCCCACACACAC TCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACACTCGTAAA GACCCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCC ATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCCATCACA CCGTCCTGAAGACCCCACAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0211 a0007c0007t0001g0211	1	224	0.0045	219	c.225 others(238): Show c.2251+1667_2251+1668insGTGTGGGGTCTTCAGGACGGTGTGAT GGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTC TTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACG AGTGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGT GTGGGGGTCTTTAGGATGGTGTGATGGGGGTCTTTACGAGGGT	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TUBB2B_chr6_3219277_3232653	3222092	C C	CCATCACC others(212): Show CCATCACCACCACCACTACCACTACCACCAACACAATCACCACCACGATC ACCATCATCACCACCACCACCACTACCACTACCACCATCATAATTACCAC CACCATCACCACCACCACCACCACTATCACCATCACCACCACCACCACCA CCACCACACTACCACCACCACCATCACCATCATCATCACCACCACCACGA CCACCACAACACTACCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	360	0.0028	219	c.26 others(230): Show c.2658_*2659insATGTGGTAGTGTTGTGGTGGTCGTGGTGGTGGTG ATGATGATGGTGATGGTGGTGGTGGTAGTGTGGTGGTGGTGGTGGTGGTG GTGATGGTGATAGTGGTGGTGGTGGTGGTGATGGTGGTGGTAATTATGAT GGTGGTAGTGGTAGTGGTGGTGGTGGTGATGATGGTGATCGTGGTGGTGA TTGTGTTGGTGGTAGTGGTAGTGGTGGTGGTGATG	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		2184		chr6	TogoVar
UGT1A10_chr2_233631448_233778300	233725219	G G	GGGAGAGG others(212): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03471.hp1 HG03209.hp1 HG03471.hp1	a0003 a0010 a0003 a0010	a0003c0004 a0010c0018 a0003c0004 a0010c0018	a0003c0004t0003 a0010c0018t0002 a0003c0004t0003 a0010c0018t0002	a0003c0004t0003g0012 a0010c0018t0002g0271 a0003c0004t0003g0012 a0010c0018t0002g0271	2	302	0.0066	219	c.856 others(238): Show c.856-41814_856-41813insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A3_chr2_233724042_233778300	233725219	G G	GGGAGAGG others(212): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0133 a0002c0002t0005g0133	1	350	0.0029	219	c.-39 others(230): Show c.-3908_-3907insGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	UGT1A3	ENSG00000288702.1	transcript	ENST00000482026.6	protein_coding		3822		chr2	TogoVar
UGT1A4_chr2_233713736_233778300	233725219	G G	GGGAGAGG others(212): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03471.hp2 HG03209.hp2 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0003 a0001c0001t0002 a0003c0004t0003	a0001c0001t0002g0056 a0003c0004t0003g0031 a0001c0001t0002g0056 a0003c0004t0003g0031	2	332	0.0060	219	c.867 others(236): Show c.867+5533_867+5534insGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	UGT1A4	ENSG00000244474.6	transcript	ENST00000373409.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A5_chr2_233707907_233778300	233725219	G G	GGGAGAGG others(212): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03471.hp2 HG03209.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0101 a0001c0001t0003g0300 a0001c0001t0002g0101 a0001c0001t0003g0300	2	330	0.0061	219	c.867 others(238): Show c.867+11362_867+11363insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	UGT1A5	ENSG00000288705.1	transcript	ENST00000373414.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A6_chr2_233687890_233778300	233725219	G G	GGGAGAGG others(212): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03471.hp2 HG03209.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0237 a0001c0001t0003g0263 a0001c0001t0002g0237 a0001c0001t0003g0263	2	332	0.0060	219	c.861 others(238): Show c.861+31355_861+31356insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	UGT1A6	ENSG00000167165.19	transcript	ENST00000305139.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233725219	G G	GGGAGAGG others(212): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03471.hp2 HG03209.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0274 a0001c0001t0003g0288 a0001c0001t0002g0274 a0001c0001t0003g0288	2	320	0.0063	219	c.856 others(238): Show c.856-41814_856-41813insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233725219	G G	GGGAGAGG others(212): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03471.hp2 HG03209.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0003t0003 a0001c0001t0008 a0001c0003t0003	a0001c0001t0008g0259 a0001c0003t0003g0100 a0001c0001t0008g0259 a0001c0003t0003g0100	2	290	0.0069	219	c.856 others(238): Show c.856-41814_856-41813insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233725219	G G	GGGAGAGG others(212): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03471.hp1 HG03209.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0144 a0001c0001t0003g0165 a0001c0001t0002g0144 a0001c0001t0003g0165	2	318	0.0063	219	c.856 others(238): Show c.856-41814_856-41813insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UMAD1_chr7_7635752_7884223	7679474	T T	TTATATAT others(212): Show TTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02818.hp1 HG02970.hp1 others(2): Show HG02809.hp1 HG02818.hp1 HG02970.hp1 HG03225.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0021 a0001c0001t0029 others(2): Show a0001c0001t0011 a0001c0001t0021 a0001c0001t0029 a0001c0001t0042 a0001c0001t0068	a0001c0001t0011g0040 a0001c0001t0021g0042 a0001c0001t0029g0217 others(2): Show a0001c0001t0011g0040 a0001c0001t0021g0042 a0001c0001t0029g0217 a0001c0001t0042g0157 a0001c0001t0068g0141	5	250	0.0200	219	c.82+ others(234): Show c.82+6026_82+6027insATTTAATTTATAGATAAATATATATTTATA TATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAA TATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAA TTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATAT TTATATATTTAATTTATAGATAAATATATATTTATATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VAV2_chr9_133756894_133997324	133791889	G G	GGTGAGCG others(212): Show GGTGAGCGGGCTGTGCTGGGTGGGGTGTGTGTGACTGTGTGTGTAAGCAG GCTGTACTGGGTGGGGTGTGTGTGTGTGAGCATGTGTGAGCGGACTGTGC TGTGGTGTGTGTGTGTGTGTGAGACAGCATGTGTGTGTGAGCGGGCTGTG CTGGGTGGGGTGTGTGTGACTGTGTGTGTGTAAGTGGGCTGTACTGGGTG GGGTGTGTGTGATTGTGTGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03704.hp2 HG02647.hp2 HG03704.hp2	a0001 a0001	a0001c0007 a0001c0023 a0001c0007 a0001c0023	a0001c0007t0003 a0001c0023t0019 a0001c0007t0003 a0001c0023t0019	a0001c0007t0003g0004 a0001c0023t0019g0138 a0001c0007t0003g0004 a0001c0023t0019g0138	2	200	0.0100	219	c.110 others(234): Show c.1102-21_1102-20insACACACAATCACACACACCCCACCCAGTAC AGCCCACTTACACACACACAGTCACACACACCCCACCCAGCACAGCCCGC TCACACACACATGCTGTCTCACACACACACACACACCACAGCACAGTCCG CTCACACATGCTCACACACACACACCCCACCCAGTACAGCCTGCTTACAC ACACAGTCACACACACCCCACCCAGCACAGCCCGCTCAC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	12/29			chr9	TogoVar
VCX2_chrX_8164944_8176267	8169105	C C	CCTCCCTC others(212): Show CCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCTCT TCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACA CCTCCTCTTCCTCCCTCCCTCCCCACACACCGCCTCTTCCTCCCTCCCTC CCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCT CCCTCCCTCCCCACACACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	115	0.0087	219	c.92 others(228): Show c.926_*927insAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGA GGCGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGG GAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAG GGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		838		chrX	TogoVar
VCX_chrX_7838171_7849143	7844388	A A	AGGAGGTG others(212): Show AGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGA GGTGTGTGGGGAGGGAGGGAGGGAGGGAGAGGAGGTGTGTGGGGAGGGAG GGAGGGAGGGAGGAAGAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0049 a0049	a0049c0095 a0049c0095	a0049c0095t0003 a0049c0095t0003	a0049c0095t0003g0002 a0049c0095t0003g0002	1	341	0.0029	219	c.37 others(228): Show c.372_*373insGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGA GGTGTGTGGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGAGGAGGTG TGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGT	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		246		chrX	TogoVar
VPS8_chr3_184807166_185057604	184895600	C C	CCCCCCCT others(212): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0261 a0002c0002t0001g0261	1	274	0.0037	219	c.200 others(236): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895628	C C	CCCCCCCC others(212): Show CCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0245 a0002c0002t0001g0245	1	274	0.0037	219	c.200 others(236): Show c.2004+710_2004+711insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VRK2_chr2_58041806_58164871	58137180	A A	ATCATATA others(212): Show ATCATATATATATCATATATCATATATATCATATATATATCATATATCAT ATATATCATATATGATACATATATATATGATACATGTATCATATATGATA CATATATATCATATATATGATACATATATATCATATATATGATACATATA TATCATATATATGATACATATATATCTCATATATGATACATATATATCTC ATATATGATACATATATATC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0131 a0001c0004t0001g0131	1	340	0.0029	219	c.856 others(236): Show c.856+1989_856+1990insATATCATATATCATATATATCATATATA TATCATATATCATATATATCATATATGATACATATATATATGATACATGT ATCATATATGATACATATATATCATATATATGATACATATATATCATATA TATGATACATATATATCATATATATGATACATATATATCTCATATATGAT ACATATATATCTCATATATGATACATATATATCTCATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58137180	A A	ATCATATA others(212): Show ATCATATATATATCATATATCATATATATCATATATGATACATATATCAT ATATATGATACATGTATCATATATGATACATGTATATCATATATATGATA CATATATATCATATATATGATACATGTATATCATATATATGATACATATA TATCATATATATGATACATATATATCATATATATGATACATATATATCAT ATATATGATACATATATATC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	340	0.0029	219	c.856 others(236): Show c.856+1989_856+1990insATATCATATATCATATATATCATATATG ATACATATATCATATATATGATACATGTATCATATATGATACATGTATAT CATATATATGATACATATATATCATATATATGATACATGTATATCATATA TATGATACATATATATCATATATATGATACATATATATCATATATATGAT ACATATATATCATATATATGATACATATATATCTCATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58137180	A A	ATCATATA others(212): Show ATCATATATGATACATATATCATATATATCATATATGATACATATATCAT ATATATGATACATGTATCATATATGATACATATATATCATATATATGATA CATATATATCATATATATGATACATATATATCATATATATGATACATATA TATCATATATATGATACATATATATCTCATATATGATACATATATATCTC ATATATGATACATATATATC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0245 a0001c0001t0003g0246	2	340	0.0059	219	c.856 others(236): Show c.856+2000_856+2001insCATATATATCATATATGATACATATATC ATATATATGATACATGTATCATATATGATACATATATATCATATATATGA TACATATATATCATATATATGATACATATATATCATATATATGATACATA TATATCATATATATGATACATATATATCTCATATATGATACATATATATC TCATATATGATACATATATATCTCATATATGATACATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58137180	A A	ATCATATA others(212): Show ATCATATATGATACATATATCATATATATCATATATGATACATATATCAT ATATATGATACATGTATCATATATGATACATATATATCATATATATGATA CATATATATCATATATATGATACATATATATCATATATATGATACATATA TATCTCATATATGATACATATATATCTCATATATGATACATATATATCTC ATATATGATACATATATATC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02698.hp1 NA18951.hp2 HG02145.hp2 HG02698.hp1 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0187 a0001c0001t0002g0210 a0001c0001t0003g0244 a0001c0001t0002g0187 a0001c0001t0002g0210 a0001c0001t0003g0244	3	340	0.0088	219	c.856 others(236): Show c.856+2000_856+2001insCATATATATCATATATGATACATATATC ATATATATGATACATGTATCATATATGATACATATATATCATATATATGA TACATATATATCATATATATGATACATATATATCATATATATGATACATA TATATCTCATATATGATACATATATATCTCATATATGATACATATATATC TCATATATGATACATATATATCTCATATATGATACATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
WDR64_chr1_241647281_241807777	241674918	T T	TCCTTCCT others(212): Show TCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTG CCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0002g0254 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0002g0254	3	326	0.0092	219	c.483 others(234): Show c.483+171_483+172insCCTTCCTGCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTC CCTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
WDR64_chr1_241647281_241807777	241674918	T T	TCCTTCCT others(212): Show TCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTG CCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTC CTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	326	0.0031	219	c.483 others(234): Show c.483+171_483+172insCCTTCCTGCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTC CTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar

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