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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TULP4_chr6_158307465_158516828	158427471	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0054 a0001c0008t0054	a0001c0008t0054g0211 a0001c0008t0054g0211	1	16	0.0625	21	c.382 others(38): Show c.382-2244_382-2224dupTTTTTTTTTTTTTTTTTTTTT		TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
TULP4_chr6_158307465_158516828	158453485	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02451.hp1 NA19004.hp2 others(2): Show HG02080.hp2 HG02451.hp1 NA19004.hp2 NA19066.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0026 a0001c0001t0059 a0001c0001t0002 a0001c0001t0026 a0001c0001t0059	a0001c0001t0002g0094 a0001c0001t0002g0110 a0001c0001t0002g0147 others(2): Show a0001c0001t0002g0094 a0001c0001t0002g0110 a0001c0001t0002g0147 a0001c0001t0026g0021 a0001c0001t0059g0062	5	96	0.0521	21	c.859 others(38): Show c.859+1221_859+1241dupAAAAAAAAAAAAAAAAAAAAA		TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
TUSC3_chr8_15535263_15771638	15539345	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0182 a0001c0001t0009g0182	1	157	0.0064	21	c.-10 others(32): Show c.-1086_-1085insTTTTTTTTTTTTTTTTTTTTT		TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding					917		chr8	TogoVar
TUSC3_chr8_15535263_15771638	15570954	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01243.hp1 HG02258.hp1 others(5): Show HG00621.hp2 HG01243.hp1 HG02258.hp1 HG02451.hp1 HG02683.hp2 HG02738.hp2 NA18983.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0030 a0001c0002t0004	a0001c0001t0002g0227 a0001c0001t0002g0249 a0001c0001t0003g0086 others(5): Show a0001c0001t0002g0227 a0001c0001t0002g0249 a0001c0001t0003g0086 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0030g0219 a0001c0002t0004g0173 a0001c0002t0004g0174	8	60	0.1333	21	c.138 others(40): Show c.138+30406_138+30407insTTTTTTTTTTTTTTTTTTTTT		TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
TUSC3_chr8_15535263_15771638	15617137	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0337 a0001c0001t0002g0337	1	353	0.0028	21	c.139 others(38): Show c.139-5943_139-5942insGTGTGTGTGTGTGTGTGTGTA		TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	1/10						chr8	TogoVar
TUSC3_chr8_15535263_15771638	15648725	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18987.hp1 HG03654.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0277 a0001c0001t0013g0028 a0001c0001t0001g0277 a0001c0001t0013g0028	2	39	0.0513	21	c.309 others(38): Show c.309-1961_309-1941dupAAAAAAAAAAAAAAAAAAAAA		TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
TUSC3_chr8_15535263_15771638	15738827	C C	CTTTTTTT others(14): Show CTTTTTTTTTTCTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00597.hp2 others(33): Show HG00140.hp2 HG00438.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG01099.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01361.hp2 HG01934.hp2 HG02080.hp2 HG02155.hp2 HG02451.hp2 HG03831.hp2 NA18747.hp2 NA18953.hp1 NA18961.hp1 NA18964.hp2 NA18977.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18991.hp2 NA18995.hp2 NA18999.hp1 NA19011.hp1 NA19062.hp1 NA19065.hp1 NA19066.hp2 NA19072.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0025 a0001c0001t0036 a0001c0001t0040 a0001c0001t0041	a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0186 others(33): Show a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0186 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0309 a0001c0001t0002g0111 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0013g0059 a0001c0001t0013g0093 a0001c0001t0025g0026 a0001c0001t0025g0027 a0001c0001t0036g0185 a0001c0001t0040g0269 a0001c0001t0041g0029	36	202	0.1782	21	c.863 others(38): Show c.863-4701_863-4700insCTTTCTTTTTTTTTTTTTTTT		TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
TVP23C_chr17_15531980_15568483	15541042	G G	GATGCAAT others(14): Show GATGCAATGCCCTAAGGCATAA	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0172 a0001c0001t0028g0172	1	422	0.0024	21	c.463 others(36): Show c.463-502_463-482dupTTATGCCTTAGGGCATTGCAT		TVP23C	ENSG00000175106.17	transcript	ENST00000518321.6	protein_coding	5/5						chr17	TogoVar
TWIST1_chr7_19110468_19122636	19117045	T T	TGCCGCCG others(14): Show TGCCGCCGCCGCCGCCCGCGCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02074.hp2 HG02165.hp1 NA18941.hp2 others(4): Show HG02074.hp2 HG02165.hp1 NA18941.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003	a0002c0002t0001g0045 a0002c0002t0002g0019 a0002c0002t0002g0021 others(1): Show a0002c0002t0001g0045 a0002c0002t0002g0019 a0002c0002t0002g0021 a0002c0002t0003g0044	7	426	0.0164	21	c.256 others(28): Show c.256_276dupGGCGCGGGCGGCGGCGGCGGC	p.Gly others(32): Show p.Gly92_Ser93insGlyAlaGlyGlyGlyGlyGly	TWIST1	ENSG00000122691.13	transcript	ENST00000242261.6	protein_coding	1/2	591/1630	276/609	92/202			chr7	TogoVar
TXK_chr4_48061393_48139250	48104540	T T	TAATATAT others(14): Show TAATATATAATATTATATATAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0212 a0001c0001t0003g0212	1	360	0.0028	21	c.501 others(36): Show c.501+360_501+361insTTATATATAATATTATATATT		TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	6/14						chr4	TogoVar
TXN2_chr22_36462046_36486640	36483281	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0049 a0001c0003t0001g0049	1	129	0.0078	21	c.-17 others(32): Show c.-1719_-1718insAAAAAAAAAAAAAAAAAAAAA		TXN2	ENSG00000100348.10	transcript	ENST00000216185.7	protein_coding					1642		chr22	TogoVar
TXNDC16_chr14_52425596_52557505	52493215	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02976.hp2 NA18951.hp1 others(5): Show HG02074.hp1 HG02976.hp2 NA18951.hp1 NA18966.hp1 NA18986.hp1 NA19007.hp1 NA19011.hp1 NA19070.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0005 a0002c0003t0010 a0002c0003t0002 a0002c0003t0005 a0002c0003t0010	a0002c0003t0002g0164 a0002c0003t0002g0195 a0002c0003t0002g0203 others(5): Show a0002c0003t0002g0164 a0002c0003t0002g0195 a0002c0003t0002g0203 a0002c0003t0002g0221 a0002c0003t0002g0222 a0002c0003t0005g0061 a0002c0003t0005g0063 a0002c0003t0010g0207	8	205	0.0390	21	c.757 others(38): Show c.757-2211_757-2210insATATATATATATATATATATA		TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	9/20						chr14	TogoVar
TXNDC8_chr9_110298476_110342863	110299979	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	274	0.0036	21	c.37 others(32): Show c.3702_*3703insATATATATATATATATATATA		TXNDC8	ENSG00000204193.12	transcript	ENST00000423740.7	protein_coding					3496		chr9	TogoVar
TXNDC8_chr9_110298476_110342863	110299980	T T	TATATATA others(14): Show TATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	385	0.0026	21	c.37 others(32): Show c.3701_*3702insTATATATATATATATATATAT		TXNDC8	ENSG00000204193.12	transcript	ENST00000423740.7	protein_coding					3495		chr9	TogoVar
TXNDC9_chr2_99313982_99341333	99330290	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01175.hp2 HG01074.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0078 a0001c0001t0001g0079	2	29	0.0690	21	c.190 others(38): Show c.190-2658_190-2638dupTTTTTTTTTTTTTTTTTTTTT		TXNDC9	ENSG00000115514.12	transcript	ENST00000264255.8	protein_coding	2/4						chr2	TogoVar
TXNDC9_chr2_99313982_99341333	99339006	A A	ACAAATAT others(14): Show ACAAATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 NA18998.hp1 HG02015.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0004 a0001c0001t0001g0008	2	351	0.0057	21	c.-28 others(32): Show c.-2801_-2800insGTATATATATATATATATTTG		TXNDC9	ENSG00000115514.12	transcript	ENST00000264255.8	protein_coding					2674		chr2	TogoVar
TXNL1_chr18_56592209_56643592	56626797	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0227 a0001c0001t0007g0227	1	36	0.0278	21	c.99- others(34): Show c.99-361_99-341dupAAAAAAAAAAAAAAAAAAAAA		TXNL1	ENSG00000091164.13	transcript	ENST00000217515.11	protein_coding	1/7						chr18	TogoVar
TXNL4A_chr18_79965813_79993563	79969330	A A	AAAAAGAA others(14): Show AAAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02683.hp2 HG02698.hp2 others(4): Show HG02015.hp2 HG02683.hp2 HG02698.hp2 HG04115.hp1 NA18950.hp1 NA18977.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0022 a0001c0001t0003 a0001c0001t0013 a0001c0001t0022	a0001c0001t0003g0002 a0001c0001t0003g0010 a0001c0001t0003g0051 others(2): Show a0001c0001t0003g0002 a0001c0001t0003g0010 a0001c0001t0003g0051 a0001c0001t0013g0032 a0001c0001t0022g0093	7	383	0.0183	21	c.43 others(32): Show c.4334_*4354dupCTTTCTTTCTTTCTTTCTTTT		TXNL4A	ENSG00000141759.15	transcript	ENST00000269601.10	protein_coding					1482		chr18	TogoVar
TXNL4A_chr18_79965813_79993563	79969394	A A	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02896.hp1 HG04115.hp2 HG02155.hp2 HG02896.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0066 a0001c0001t0004g0033 a0001c0001t0001g0001 a0001c0001t0001g0066 a0001c0001t0004g0033	3	166	0.0181	21	c.42 others(32): Show c.4290_*4291insCTTTCTTTCTTTCTTTCTTTC		TXNL4A	ENSG00000141759.15	transcript	ENST00000269601.10	protein_coding					1418		chr18	TogoVar
TXNRD1_chr12_104210779_104355307	104254630	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0293 a0001c0002t0001g0293	1	107	0.0093	21	c.243 others(38): Show c.243+2967_243+2968insAAAAAAAAAAAAAAAAAAAAA		TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104254644	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0285 a0001c0002t0001g0285	1	206	0.0049	21	c.243 others(38): Show c.243+2967_243+2968insAAAAAAAAAAAAAAAAATATA		TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104254644	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0300 a0001c0002t0001g0300	1	206	0.0049	21	c.243 others(38): Show c.243+2967_243+2968insAAAAAAAAAAAAAAATATATA		TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104254644	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0155	1	206	0.0049	21	c.243 others(38): Show c.243+2967_243+2968insAAATATATATATATATATATA		TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104254644	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0117 a0001c0003t0003g0117	1	206	0.0049	21	c.243 others(38): Show c.243+2966_243+2967insTATATATATATATATATATAT		TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16						chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104267699	T T	TTCTTTCT others(14): Show TTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0182 a0001c0002t0001g0182	1	257	0.0039	21	c.304 others(38): Show c.304+9623_304+9624insTTCTTTCTTTCTTTCTTCTCT		TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104294233	G G	GGCGCCCC others(14): Show GGCGCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp1 HG00642.hp1 others(3): Show HG00408.hp1 HG00621.hp1 HG00642.hp1 HG01175.hp2 HG02723.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0210 a0001c0001t0001g0234 a0001c0001t0001g0250 others(3): Show a0001c0001t0001g0210 a0001c0001t0001g0234 a0001c0001t0001g0250 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0003t0001g0097	6	115	0.0522	21	c.414 others(38): Show c.414+5193_414+5194insGCGCCCCCCCCCCCCCCCCCC		TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	4/16						chr12	TogoVar
TXN_chr9_110238810_110261507	110245654	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	243	0.0041	21	c.190 others(36): Show c.190-812_190-811insAAAAAAATATATATATATATA		TXN	ENSG00000136810.13	transcript	ENST00000374517.6	protein_coding	3/4						chr9	TogoVar
TYK2_chr19_10345533_10385572	10372485	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0334 a0001c0001t0002g0334	1	335	0.0030	21	c.194 others(38): Show c.194-4068_194-4067insTATATATATATATATATATAT		TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24						chr19	TogoVar
TYMS_chr18_652653_678578	666618	C C	CATTTCAC others(14): Show CATTTCACCTCCAGCCACCTGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0265 a0001c0001t0003g0265	1	480	0.0021	21	c.455 others(38): Show c.455-2452_455-2432dupTTTCACCTCCAGCCACCTGGA		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667456	A A	ATGGAGAT others(14): Show ATGGAGATGGTGATGGTGATGG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0096 a0001c0001t0004g0096	1	421	0.0024	21	c.455 others(38): Show c.455-1614_455-1613insGAGATGGTGATGGTGATGGTG		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
TYSND1_chr10_70132981_70151700	70133098	A A	AGAGAGAG others(14): Show AGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0003 a0001c0003t0003g0003	1	49	0.0204	21	c.68 others(32): Show c.6825_*6826insCTCTCTCTCTCTCTCTCTCTC		TYSND1	ENSG00000156521.14	transcript	ENST00000287078.7	protein_coding					4882		chr10	TogoVar
TYSND1_chr10_70132981_70151700	70149547	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0006 a0002c0001t0001g0006	1	25	0.0400	21	c.-29 others(32): Show c.-2982_-2962dupAAAAAAAAAAAAAAAAAAAAA		TYSND1	ENSG00000156521.14	transcript	ENST00000287078.7	protein_coding					2848		chr10	TogoVar
TYW1B_chr7_72569513_72833200	72632285	G G	GTATATAT others(14): Show GTATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02698.hp2 HG03017.hp2 others(6): Show HG02683.hp2 HG02698.hp2 HG03017.hp2 HG03239.hp2 HG03704.hp1 HG03927.hp2 HG04115.hp1 NA18954.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0223 others(6): Show a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0223 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0234 a0001c0002t0001g0235 a0002c0003t0001g0110 a0002c0003t0001g0111	9	160	0.0563	21	c.150 others(40): Show c.1507-3289_1507-3288insATATATATATATATATATATA		TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	11/13						chr7	TogoVar
TYW1B_chr7_72569513_72833200	72632285	G G	GTATATAT others(14): Show GTATATATATATATATATATTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp1 HG03225.hp1 others(3): Show HG02258.hp1 HG02922.hp1 HG03225.hp1 HG03540.hp1 NA18945.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0001 a0001c0002t0001 a0001c0006t0001	a0001c0002t0001g0254 a0001c0002t0001g0258 a0001c0006t0001g0185 others(3): Show a0001c0002t0001g0254 a0001c0002t0001g0258 a0001c0006t0001g0185 a0001c0006t0001g0192 a0001c0006t0001g0193 a0001c0006t0001g0196	6	157	0.0382	21	c.150 others(40): Show c.1507-3289_1507-3288insTAATATATATATATATATATA		TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	11/13						chr7	TogoVar
TYW1B_chr7_72569513_72833200	72632285	G G	GTGTATAT others(14): Show GTGTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0140 a0002c0003t0001g0140	1	152	0.0066	21	c.150 others(40): Show c.1507-3289_1507-3288insATATATATATATATATATACA		TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	11/13						chr7	TogoVar
TYW1B_chr7_72569513_72833200	72632389	T T	TATATATA others(14): Show TATATATATAATATATATATAC	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18971.hp2 NA18982.hp2 others(2): Show HG02523.hp2 NA18971.hp2 NA18982.hp2 NA19000.hp2 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0014 a0001c0002 a0001c0014	a0001c0002t0001 a0001c0014t0001 a0001c0002t0001 a0001c0014t0001	a0001c0002t0001g0206 a0001c0002t0001g0215 a0001c0002t0001g0225 others(2): Show a0001c0002t0001g0206 a0001c0002t0001g0215 a0001c0002t0001g0225 a0001c0002t0001g0239 a0001c0014t0001g0184	5	279	0.0179	21	c.150 others(40): Show c.1507-3393_1507-3392insGTATATATATATTATATATAT		TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	11/13						chr7	TogoVar
TYW1B_chr7_72569513_72833200	72632391	T T	TATATATA others(14): Show TATATATATAATATATATATAC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0147 a0002c0003t0001g0147	1	284	0.0035	21	c.150 others(40): Show c.1507-3415_1507-3395dupGTATATATATATTATATATAT		TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	11/13						chr7	TogoVar
TYW1B_chr7_72569513_72833200	72632402	T T	TATATATA others(14): Show TATATATATACATATATATATA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0243 a0001c0002t0001g0243	1	280	0.0036	21	c.150 others(40): Show c.1507-3426_1507-3406dupTATATATATATGTATATATAT		TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	11/13						chr7	TogoVar
TYW1B_chr7_72569513_72833200	72672473	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0033 a0002c0003t0001g0033	1	4	0.2500	21	c.150 others(42): Show c.1506+22213_1506+22214insGTGTGTGTGTGTGTGTGTGTG		TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	11/13						chr7	TogoVar
TYW1_chr7_66991833_67244514	67112100	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02056.hp2 NA18992.hp2 others(1): Show HG01934.hp1 HG02056.hp2 NA18992.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0281 a0001c0002t0003g0285 a0001c0002t0003g0335 others(1): Show a0001c0002t0003g0281 a0001c0002t0003g0285 a0001c0002t0003g0335 a0001c0002t0003g0344	4	91	0.0440	21	c.156 others(40): Show c.1563-5380_1563-5360dupAAAAAAAAAAAAAAAAAAAAA		TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67241316	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0203 a0003c0005t0002g0203	1	277	0.0036	21	c.27 others(32): Show c.2787_*2788insAAAAAAAAAAAAAAAAAAAAA		TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding					1803		chr7	TogoVar
TYW1_chr7_66991833_67244514	67241316	C C	CAAAAAAA others(14): Show CAAAAAAAGAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02559.hp1 HG02717.hp1 others(2): Show HG01109.hp1 HG02559.hp1 HG02717.hp1 HG03486.hp2 NA18522.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0196 a0003c0005t0002g0199 a0003c0005t0002g0200 others(2): Show a0003c0005t0002g0196 a0003c0005t0002g0199 a0003c0005t0002g0200 a0003c0005t0002g0201 a0003c0005t0002g0204	5	281	0.0178	21	c.27 others(32): Show c.2787_*2788insAAAAAAAGAAAAAAAAAAAAA		TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding					1803		chr7	TogoVar
U2SURP_chr3_142996570_143065725	143004573	A A	ACCCCCCC others(14): Show ACCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18979.hp2 NA19086.hp2 NA18957.hp2 NA18979.hp2 NA19086.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0140 a0001c0001t0001g0142 a0005c0007t0001g0141 a0001c0001t0001g0140 a0001c0001t0001g0142 a0005c0007t0001g0141	3	74	0.0405	21	c.45+ others(36): Show c.45+2912_45+2913insCCCCCCCCCCCCCCCCCCCCC		U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
UAP1_chr1_162556722_162606240	162587414	C C	CAAATCTC others(14): Show CAAATCTCCAAAGAAACATTTA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	410	0.0024	21	c.835 others(34): Show c.835-59_835-39dupAATCTCCAAAGAAACATTTAA		UAP1	ENSG00000117143.14	transcript	ENST00000367925.6	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
UAP1_chr1_162556722_162606240	162598239	T T	TTTTTAAA others(14): Show TTTTTAAAAAGTTTTATTCTAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00558.hp1 others(33): Show HG00280.hp1 HG00544.hp2 HG00558.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02165.hp1 HG02735.hp2 HG03704.hp2 HG03710.hp2 NA18943.hp2 NA18948.hp1 NA18953.hp1 NA18962.hp2 NA18965.hp1 NA18968.hp2 NA18975.hp2 NA18978.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA19000.hp2 NA19003.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19063.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19082.hp2 NA19086.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017	a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0024 others(24): Show a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0144 a0001c0001t0003g0134 a0001c0001t0005g0005 a0001c0001t0013g0061 a0001c0001t0014g0064 a0001c0001t0015g0005 a0001c0001t0017g0070	36	410	0.0878	21	c.147 others(38): Show c.1476+392_1476+393insTTTATTCTACTTTTAAAAAGT		UAP1	ENSG00000117143.14	transcript	ENST00000367925.6	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
UBA2_chr19_34423381_34476251	34456100	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03942.hp1 HG02602.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0085 a0001c0001t0001g0086	2	158	0.0127	21	c.124 others(40): Show c.1245+1549_1245+1550insTTTTTTTTTTTTTTTTTTTTT		UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr19	TogoVar
UBA2_chr19_34423381_34476251	34457179	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0247 a0001c0002t0002g0247	1	90	0.0111	21	c.124 others(40): Show c.1246-1589_1246-1588insAAAAATATATATATATATATA		UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr19	TogoVar
UBA2_chr19_34423381_34476251	34457179	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA19007.hp2 HG04199.hp1 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0011 a0001c0002t0002 a0001c0002t0011	a0001c0002t0002g0240 a0001c0002t0011g0242 a0001c0002t0002g0240 a0001c0002t0011g0242	2	91	0.0220	21	c.124 others(40): Show c.1246-1589_1246-1588insAAATATATATATATATATATA		UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr19	TogoVar
UBAC2_chr13_99195854_99391504	99330458	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG02083.hp1 others(7): Show HG00280.hp2 HG00621.hp1 HG02083.hp1 HG02451.hp2 NA18944.hp1 NA18949.hp1 NA18961.hp1 NA19011.hp1 NA19063.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0003c0003t0004	a0001c0001t0001g0087 a0001c0001t0001g0278 a0001c0001t0001g0306 others(7): Show a0001c0001t0001g0087 a0001c0001t0001g0278 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0003g0106 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0299 a0001c0001t0004g0310 a0003c0003t0004g0300	10	25	0.4000	21	c.562 others(38): Show c.562-9844_562-9843insAAAAAAAAAAAAAAAAAAAAA		UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99338039	C C	CTTTTTTC others(14): Show CTTTTTTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02273.hp2 HG02602.hp1 others(4): Show HG00438.hp2 HG02273.hp2 HG02602.hp1 HG02615.hp2 HG03710.hp1 NA18954.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0355 others(4): Show a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0355 a0001c0001t0001g0368 a0001c0001t0001g0371 a0001c0001t0001g0374 a0001c0001t0001g0377	7	250	0.0280	21	c.562 others(38): Show c.562-2275_562-2274insCTTTTTTTTTTTTTTTTTTTT		UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr13	TogoVar

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