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
TXNL1_chr18_56592209_56643592	56626797	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0226 a0001c0001t0007g0226	1	36	0.0278	26	c.99- others(39): Show c.99-341_99-340insAAAAAAAAAAAAAAAAAAAAAAAAAA	TXNL1	ENSG00000091164.13	transcript	ENST00000217515.11	protein_coding	1/7			chr18	TogoVar
TXNRD1_chr12_104210779_104355307	104252667	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0107 a0001c0003t0003g0107	1	297	0.0034	26	c.243 others(43): Show c.243+1013_243+1014insACATATATATATATATATATATATAT	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(19): Show AAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0152 a0001c0003t0001g0152	1	206	0.0049	26	c.243 others(43): Show c.243+2967_243+2968insAAAAAAAAAAAATATATATATATATA	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(19): Show AAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0138 a0001c0003t0001g0138	1	206	0.0049	26	c.243 others(43): Show c.243+2967_243+2968insAAAAAAAAAATATATATATATATATA	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(19): Show AAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0151 a0001c0003t0001g0151	1	206	0.0049	26	c.243 others(43): Show c.243+2967_243+2968insAAAAAAAATATATATATATATATATA	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104267283	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0084 a0001c0002t0002g0084	1	296	0.0034	26	c.304 others(43): Show c.304+9204_304+9205insTTTCTTTCTTTCTTTCTTTCTTTCTT	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	3/16			chr12	TogoVar
TXNRD2_chr22_19870522_19946818	19909874	T T	TCACACAC others(19): Show TCACACACACCACACACACCCTACTCA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01884.hp1 others(3): Show HG01257.hp2 HG01258.hp2 HG01884.hp1 HG02257.hp2 HG02486.hp2 HG02559.hp2	a0004 a0004	a0004c0009 a0004c0010 a0004c0019 a0004c0009 a0004c0010 a0004c0019	a0004c0009t0002 a0004c0010t0001 a0004c0010t0002 others(1): Show a0004c0009t0002 a0004c0010t0001 a0004c0010t0002 a0004c0019t0002	a0004c0009t0002g0075 a0004c0010t0001g0086 a0004c0010t0002g0102 others(2): Show a0004c0009t0002g0075 a0004c0010t0001g0086 a0004c0010t0002g0102 a0004c0010t0002g0146 a0004c0019t0002g0008	6	272	0.0221	26	c.662 others(43): Show c.662+1502_662+1503insTGAGTAGGGTGTGTGTGGTGTGTGTG	TXNRD2	ENSG00000184470.21	transcript	ENST00000400521.7	protein_coding	8/17			chr22	TogoVar
TXN_chr9_110238810_110261507	110245618	C C	CACACACA others(19): Show CACACACACACACACTATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0174 a0001c0001t0005g0174	1	314	0.0032	26	c.190 others(41): Show c.190-776_190-775insTATATATATATAGTGTGTGTGTGTGT	TXN	ENSG00000136810.13	transcript	ENST00000374517.6	protein_coding	3/4			chr9	TogoVar
TXN_chr9_110238810_110261507	110245618	C C	CACACACA others(19): Show CACACACACACACTATATATATATATA	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	314	0.0032	26	c.190 others(41): Show c.190-776_190-775insTATATATATATATAGTGTGTGTGTGT	TXN	ENSG00000136810.13	transcript	ENST00000374517.6	protein_coding	3/4			chr9	TogoVar
TXN_chr9_110238810_110261507	110245618	C C	CACACACA others(19): Show CACACACACACTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03490.hp2 NA19056.hp1 others(3): Show HG02523.hp2 HG03490.hp2 NA19056.hp1 NA19059.hp1 NA19067.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0043 a0001c0001t0001g0193 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0043 a0001c0001t0001g0193 a0001c0001t0001g0266 a0001c0001t0001g0373 a0001c0001t0001g0386	6	319	0.0188	26	c.190 others(41): Show c.190-776_190-775insTATATATATATATATAGTGTGTGTGT	TXN	ENSG00000136810.13	transcript	ENST00000374517.6	protein_coding	3/4			chr9	TogoVar
TYMS_chr18_652653_678578	667173	T T	TGATGGTG others(19): Show TGATGGTGATGGATGGAGATGGTGATG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0237 a0001c0001t0003g0237	1	428	0.0023	26	c.455 others(43): Show c.455-1888_455-1887insATGGAGATGGTGATGGATGGTGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYR_chr11_89172875_89300759	89198754	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02886.hp2 HG02451.hp2 HG02486.hp1 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0283 a0001c0004t0001g0287 a0001c0004t0001g0288 a0001c0004t0001g0283 a0001c0004t0001g0287 a0001c0004t0001g0288	3	214	0.0140	26	c.103 others(45): Show c.1036+7352_1036+7353insATATATATATATATATATATATATAT	TYR	ENSG00000077498.9	transcript	ENST00000263321.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
TYR_chr11_89172875_89300759	89202622	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA18940.hp2 NA18978.hp1 others(3): Show HG03491.hp2 NA18940.hp2 NA18978.hp1 NA18985.hp2 NA18989.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0103 a0001c0001t0001g0115 others(3): Show a0001c0001t0001g0092 a0001c0001t0001g0103 a0001c0001t0001g0115 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0273	6	77	0.0779	26	c.103 others(47): Show c.1036+11207_1036+11232dupACACACACACACACACACACACAC AC	TYR	ENSG00000077498.9	transcript	ENST00000263321.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
UACA_chr15_70649554_70768558	70700299	T T	TTGTATAT others(19): Show TTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01106.hp2 HG01123.hp1 others(21): Show HG00323.hp1 HG01106.hp2 HG01123.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02698.hp1 HG03017.hp2 HG03490.hp1 HG03492.hp2 HG03688.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp1 NA18942.hp2 NA18965.hp1 NA18967.hp1 NA18984.hp2 NA19082.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0003t0013 others(1): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0013 a0001c0003t0015	a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0003t0002g0010 others(21): Show a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0003t0002g0010 a0001c0003t0002g0020 a0001c0003t0002g0021 a0001c0003t0002g0022 a0001c0003t0002g0023 a0001c0003t0002g0024 a0001c0003t0002g0025 a0001c0003t0002g0026 a0001c0003t0002g0030 a0001c0003t0002g0031 a0001c0003t0002g0032 a0001c0003t0002g0033 a0001c0003t0002g0034 a0001c0003t0002g0035 a0001c0003t0002g0038 a0001c0003t0002g0050 a0001c0003t0002g0058 a0001c0003t0002g0059 a0001c0003t0002g0204 a0001c0003t0002g0212 a0001c0003t0013g0040 a0001c0003t0015g0043	24	304	0.0789	26	c.79- others(39): Show c.79-640_79-639insTATATATATATATATATATATATACA	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70700299	T T	TTGTATAT others(19): Show TTGTATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0039 a0001c0003t0002g0039	1	281	0.0036	26	c.79- others(39): Show c.79-640_79-639insTACATATATATATATATATATATACA	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70700318	T T	TATATATA others(19): Show TATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA20129.hp2 HG01346.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0003 a0001c0004t0001 a0001c0004t0003	a0001c0004t0001g0122 a0001c0004t0003g0266 a0001c0004t0001g0122 a0001c0004t0003g0266	2	265	0.0075	26	c.79- others(39): Show c.79-659_79-658insGTGTGTGTATATATATATATATATAT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70700318	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03516.hp2 HG03209.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0268 a0001c0004t0003g0272 a0001c0004t0003g0268 a0001c0004t0003g0272	2	265	0.0075	26	c.79- others(39): Show c.79-659_79-658insGTGTGTATATATATATATATATATAT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70735147	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAATTCTCAAAAA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	107	0.0093	26	c.78+ others(43): Show c.78+28182_78+28183insTTTTTGAGAATTTTTTTTTTTTTTTT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UBA2_chr19_34423381_34476251	34456100	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03017.hp2 HG04204.hp1 HG01256.hp1 HG03017.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0161 a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0161	3	159	0.0189	26	c.124 others(45): Show c.1245+1549_1245+1550insTTTTTTTTTTTTTTTTTTTTTTTTTT	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UBA2_chr19_34423381_34476251	34457179	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18985.hp2 NA18947.hp1 NA18985.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0275 a0001c0002t0006g0241 a0001c0002t0002g0275 a0001c0002t0006g0241	2	91	0.0220	26	c.124 others(45): Show c.1246-1589_1246-1588insAATATATATATATATATATATATATA	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UBAC2_chr13_99195854_99391504	99232399	G G	GAGATAGA others(19): Show GAGATAGATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0118 a0001c0001t0003g0118	1	201	0.0050	26	c.32- others(41): Show c.32-6027_32-6026insGATAGATATATATATATATATATATA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99232399	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA18980.hp2 NA18986.hp2 HG02300.hp2 NA18980.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0065 a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0065	3	203	0.0148	26	c.32- others(41): Show c.32-6023_32-6022insTATATATATATATATATATATATATA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99237396	C C	CAAAGATT others(19): Show CAAAGATTGCATGTTCTCACACGTGGA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0299 a0001c0001t0004g0299	1	378	0.0026	26	c.32- others(41): Show c.32-1029_32-1004dupAAGATTGCATGTTCTCACACGTGGAA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99330458	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA18956.hp1 NA19087.hp1 HG03491.hp1 NA18956.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0233 a0001c0001t0003g0012 a0001c0001t0003g0095 a0001c0001t0002g0233 a0001c0001t0003g0012 a0001c0001t0003g0095	3	18	0.1667	26	c.562 others(43): Show c.562-9844_562-9843insAAAAAAAAAAAAAAAAAAAAAAAAAA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAP1_chr9_34174043_34257523	34181116	C C	CTTTCTTT others(19): Show CTTTCTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0339 a0001c0001t0006g0339	1	63	0.0159	26	c.-8+ others(41): Show c.-8+1879_-8+1880insCTTTTTTTTTTTTTTTTTTTTTTTTT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP1_chr9_34174043_34257523	34202624	C C	CCTGTGTG others(19): Show CCTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02015.hp1 HG02293.hp1 others(11): Show HG01168.hp1 HG02015.hp1 HG02293.hp1 HG02293.hp2 HG02602.hp1 HG02683.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG04184.hp2 HG06807.hp2 NA18964.hp2 NA18979.hp2 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0036 others(11): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0134 a0001c0001t0001g0156 a0001c0001t0001g0340 a0002c0002t0001g0112	14	33	0.4242	26	c.-7- others(43): Show c.-7-18284_-7-18283insCTGTGTGTGTGTGTGTGTGTGTGTGT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6			chr9	TogoVar
UBAP1_chr9_34174043_34257523	34219838	T T	TCCCCTCC others(19): Show TCCCCTCCCCCTTCCCTCTCCCTTCTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0339 a0001c0001t0006g0339	1	340	0.0029	26	c.-7- others(41): Show c.-7-1046_-7-1045insTCCCCCTCCCCCTTCCCTCTCCCTTC	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP1_chr9_34174043_34257523	34226119	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG01074.hp2 others(30): Show HG00280.hp2 HG00438.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01516.hp1 HG01952.hp1 HG01978.hp1 HG02559.hp2 HG02698.hp2 HG02738.hp2 HG02896.hp2 HG03130.hp1 HG03669.hp2 HG03834.hp2 HG03927.hp2 NA18522.hp2 NA18906.hp2 NA18949.hp1 NA18995.hp1 NA19043.hp1 NA19074.hp2 NA19085.hp1 NA21309.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0006 a0003c0003 others(1): Show a0001c0001 a0001c0006 a0003c0003 a0006c0008	a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 others(3): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0006t0004 a0003c0003t0004 a0006c0008t0005	a0001c0001t0004g0294 a0001c0001t0004g0296 a0001c0001t0004g0297 others(30): Show a0001c0001t0004g0294 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0302 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0004g0309 a0001c0001t0004g0310 a0001c0001t0004g0312 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0320 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0329 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0004g0337 a0001c0001t0005g0003 a0001c0001t0005g0258 a0001c0001t0010g0314 a0001c0006t0004g0326 a0003c0003t0004g0313 a0006c0008t0005g0257	33	334	0.0988	26	c.34+ others(41): Show c.34+5196_34+5197insTTGTGTGTGTGTGTGTGTGTGTGTGT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP1_chr9_34174043_34257523	34226125	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0339 a0001c0001t0006g0339	1	337	0.0030	26	c.34+ others(41): Show c.34+5202_34+5203insTTGTGTGTGTGTGTGTGTGTGTGTGT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP1_chr9_34174043_34257523	34226127	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18964.hp1 NA18949.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0238 a0001c0005t0002g0254 a0001c0001t0002g0238 a0001c0005t0002g0254	2	286	0.0070	26	c.34+ others(41): Show c.34+5204_34+5205insTTGTGTGTGTGTGTGTGTGTGTGTGT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP2_chr9_33916693_34053887	33940440	C C	CATGTTGA others(19): Show CATGTTGAGCTAAGCTATCATGTTGAG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0123 a0002c0001t0002g0123	1	354	0.0028	26	c.192 others(45): Show c.1929+1208_1929+1209insCTCAACATGATAGCTTAGCTCAACAT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	16/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	33954269	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0343 a0001c0003t0001g0343	1	17	0.0588	26	c.867 others(41): Show c.867-821_867-796dupGTGTGTGTGTGTGTGTGTGTGTGTGT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	11/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03098.hp2 HG06807.hp2 others(1): Show HG01109.hp1 HG03098.hp2 HG06807.hp2 NA18961.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0003 a0001c0003t0001 a0002c0001t0003	a0001c0003t0001g0286 a0002c0001t0003g0252 a0002c0001t0003g0254 others(1): Show a0001c0003t0001g0286 a0002c0001t0003g0252 a0002c0001t0003g0254 a0002c0001t0003g0256	4	49	0.0816	26	c.-42 others(45): Show c.-42+13310_-42+13311insATATATATATATATATATATTTTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0257 a0002c0001t0003g0257	1	46	0.0217	26	c.-42 others(45): Show c.-42+13310_-42+13311insATATATATATATATATATATATATTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0008 a0002c0001t0008	a0002c0001t0008g0067 a0002c0001t0008g0067	1	46	0.0217	26	c.-42 others(45): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBASH3B_chr11_122650722_122819473	122744873	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03669.hp1 HG04204.hp2 others(1): Show HG00280.hp2 HG03669.hp1 HG04204.hp2 NA18962.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0005 a0001c0002t0001 a0001c0002t0005 others(1): Show a0001c0001t0005 a0001c0002t0001 a0001c0002t0005 a0002c0003t0001	a0001c0001t0005g0161 a0001c0002t0001g0136 a0001c0002t0005g0249 others(1): Show a0001c0001t0005g0161 a0001c0002t0001g0136 a0001c0002t0005g0249 a0002c0003t0001g0251	4	88	0.0455	26	c.162 others(45): Show c.162-31345_162-31320dupTGTGTGTGTGTGTGTGTGTGTGTGTG	UBASH3B	ENSG00000154127.10	transcript	ENST00000284273.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
UBC_chr12_124906646_124919650	124907760	A A	AATATATA others(19): Show AATATATATATATATGAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG01358.hp1 HG02300.hp2 others(10): Show HG00438.hp1 HG01358.hp1 HG02300.hp2 NA18956.hp1 NA18961.hp1 NA18972.hp1 NA18999.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp2 NA19078.hp1 NA19087.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0003 a0001c0001t0003g0028 a0001c0001t0002g0003 a0001c0001t0003g0028	13	345	0.0377	26	c.39 others(37): Show c.3953_*3954insATATATATATTCATATATATATATAT	UBC	ENSG00000150991.16	transcript	ENST00000339647.6	protein_coding		3885		chr12	TogoVar
UBE2B_chr5_134366569_134397108	134376336	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	277	0.0036	26	c.126 others(41): Show c.126-332_126-331insTATATATATATATATATATATATATA	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376340	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	213	0.0047	26	c.126 others(41): Show c.126-328_126-327insTATATATATATATATATATATATATA	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376344	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 NA19011.hp1 HG01516.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0063 a0001c0001t0001g0064	2	141	0.0142	26	c.126 others(41): Show c.126-324_126-323insTATATATATATATATATATATATATA	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376346	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	99	0.0101	26	c.126 others(41): Show c.126-322_126-321insTATATATATATATATATATATATATA	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376348	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	10	0.1000	26	c.126 others(41): Show c.126-320_126-319insAAAATATATATATATATATATATATA	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376348	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02055.hp1 HG02602.hp1 others(5): Show HG00642.hp1 HG02055.hp1 HG02602.hp1 HG02647.hp1 HG03139.hp2 HG03927.hp1 NA18955.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0051 a0001c0001t0001g0112 a0001c0001t0001g0150	8	17	0.4706	26	c.126 others(41): Show c.126-320_126-319insAATATATATATATATATATATATATA	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376348	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA20752.hp2 NA19003.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	11	0.1818	26	c.126 others(41): Show c.126-304_126-303insTATATATATATATATATATATATATA	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376362	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01168.hp1 HG00099.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0125 a0001c0001t0002g0200 a0001c0001t0001g0125 a0001c0001t0002g0200	2	278	0.0072	26	c.126 others(41): Show c.126-304_126-303insTATATATATATATATATATATACATA	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376364	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02145.hp2 NA19012.hp1 others(1): Show HG00639.hp1 HG02145.hp2 NA19012.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 others(1): Show a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129	4	237	0.0169	26	c.126 others(41): Show c.126-304_126-303insTATATATATATATATATATATATACA	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2C_chr20_45807644_45821952	45814271	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	81	0.0123	26	c.130 others(40): Show c.130-109_130-84dupTATATATATATATATATATATATATA	UBE2C	ENSG00000175063.17	transcript	ENST00000356455.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
UBE2D3_chr4_102789383_102832551	102798279	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00609.hp1 others(27): Show HG00099.hp2 HG00323.hp1 HG00609.hp1 HG00639.hp1 HG00741.hp1 HG01081.hp2 HG01891.hp1 HG01975.hp2 HG01993.hp1 HG02071.hp1 HG02273.hp1 HG02273.hp2 HG02572.hp1 HG02630.hp1 HG02738.hp2 HG03098.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03516.hp2 NA18949.hp1 NA18953.hp1 NA18961.hp1 NA18970.hp1 NA18980.hp1 NA18981.hp2 NA19068.hp1 NA19076.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0027 others(18): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0119 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0239	30	191	0.1571	26	c.399 others(41): Show c.399-820_399-819insATATATATATATATATATATATATAT	UBE2D3	ENSG00000109332.20	transcript	ENST00000453744.7	protein_coding	7/7			chr4	TogoVar
UBE2D3_chr4_102789383_102832551	102822791	C C	CCTCTACT others(19): Show CCTCTACTAAAAAAACAAAAAAATTAG	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	366	0.0027	26	c.24+ others(41): Show c.24+3693_24+3694insCTAATTTTTTTGTTTTTTTAGTAGAG	UBE2D3	ENSG00000109332.20	transcript	ENST00000453744.7	protein_coding	2/7			chr4	TogoVar
UBE2D4_chr7_43921436_43961136	43957245	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01071.hp1 HG01258.hp2 others(5): Show HG00738.hp1 HG01071.hp1 HG01258.hp2 HG02257.hp1 HG02735.hp2 HG03942.hp1 HG06807.hp2 NA18978.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 others(1): Show a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0002c0002t0011	a0001c0001t0012g0028 a0001c0001t0013g0024 a0001c0001t0013g0085 others(5): Show a0001c0001t0012g0028 a0001c0001t0013g0024 a0001c0001t0013g0085 a0001c0001t0015g0083 a0001c0001t0015g0084 a0002c0002t0011g0029 a0002c0002t0011g0030 a0002c0002t0011g0101	8	132	0.0606	26	c.45 others(37): Show c.4550_*4551insAAAAAAAAAAAAAAAAAAAAAAAATT	UBE2D4	ENSG00000078967.13	transcript	ENST00000222402.8	protein_coding		1110		chr7	TogoVar

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