view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TXNDC8_chr9_110298476_110342863 | 110299963 | ATATATAT others(11): Show |
A | downstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 414 | 0.0024 | -18 | c.*37 others(29): Show |
TXNDC8 | ENSG00000204193.12 | transcript | ENST00000423740.7 | protein_coding | 3512 | chr9 | TogoVar | |||||||
TXNDC8_chr9_110298476_110342863 | 110299969 | ATATATAT others(11): Show |
A | downstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 395 | 0.0025 | -18 | c.*36 others(29): Show |
TXNDC8 | ENSG00000204193.12 | transcript | ENST00000423740.7 | protein_coding | 3506 | chr9 | TogoVar | |||||||
TXNDC8_chr9_110298476_110342863 | 110305570 | CTTTCTTT others(11): Show |
C | intron_variant | MODIFIER | NA18940.hp1 NA18945.hp1 NA18970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 a0001c0001t0001g0088 a0001c0001t0001g0099 others(3): Show |
6 | 414 | 0.0145 | -18 | c.196 others(35): Show |
TXNDC8 | ENSG00000204193.12 | transcript | ENST00000423740.7 | protein_coding | 3/4 | chr9 | TogoVar | |||||||
TXNDC8_chr9_110298476_110342863 | 110305586 | CTTTCTTT others(11): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02976.hp2 HG03471.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0269 a0001c0001t0001g0329 a0002c0002t0001g0021 |
4 | 414 | 0.0097 | -18 | c.196 others(35): Show |
TXNDC8 | ENSG00000204193.12 | transcript | ENST00000423740.7 | protein_coding | 3/4 | chr9 | TogoVar | |||||||
TXNDC8_chr9_110298476_110342863 | 110311521 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 33 | 0.0303 | -18 | c.196 others(35): Show |
TXNDC8 | ENSG00000204193.12 | transcript | ENST00000423740.7 | protein_coding | 3/4 | chr9 | TogoVar | |||||||
TXNL4A_chr18_79965813_79993563 | 79969313 | GAAAGAAA others(11): Show |
G | downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0085 | 1 | 387 | 0.0026 | -18 | c.*43 others(29): Show |
TXNL4A | ENSG00000141759.15 | transcript | ENST00000269601.10 | protein_coding | 1499 | chr18 | TogoVar | |||||||
TXNRD1_chr12_104210779_104355307 | 104267701 | CTCTCTTT others(11): Show |
C | intron_variant | MODIFIER | HG02559.hp1 NA18942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 a0001c0001t0001g0258 |
2 | 299 | 0.0067 | -18 | c.304 others(35): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TXNRD1_chr12_104210779_104355307 | 104290714 | AATATACA others(11): Show |
A | intron_variant | MODIFIER | HG03486.hp1 NA19240.hp2 |
a0001 | a0001c0007a0001c0011 | a0001c0007t0005a0001c0011t0005 | a0001c0007t0005g0281 a0001c0011t0005g0116 |
2 | 300 | 0.0067 | -18 | c.414 others(35): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TXN_chr9_110238810_110261507 | 110245616 | CACTATAT others(11): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 464 | 0.0022 | -18 | c.190 others(33): Show |
TXN | ENSG00000136810.13 | transcript | ENST00000374517.6 | protein_coding | 3/4 | chr9 | TogoVar | |||||||
TXN_chr9_110238810_110261507 | 110248601 | AAGTGATG others(11): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0252 | 1 | 464 | 0.0022 | -18 | c.189 others(35): Show |
TXN | ENSG00000136810.13 | transcript | ENST00000374517.6 | protein_coding | 3/4 | chr9 | TogoVar | |||||||
TYMS_chr18_652653_678578 | 666945 | TGATGGTG others(11): Show |
T | intron_variant | MODIFIER | HG01361.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0013 | 2 | 445 | 0.0045 | -18 | c.455 others(35): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 667005 | TGATGGTG others(11): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01257.hp2 HG01258.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0003a0002c0003t0003 | a0001c0001t0002g0021 a0001c0001t0002g0239 a0001c0001t0003g0189 others(5): Show |
10 | 447 | 0.0224 | -18 | c.455 others(35): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 667083 | TGATGGTG others(11): Show |
T | intron_variant | MODIFIER | HG02293.hp1 HG03579.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0064 a0001c0002t0001g0133 |
2 | 456 | 0.0044 | -18 | c.455 others(35): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 667173 | TGATGGTG others(11): Show |
T | intron_variant | MODIFIER | NA18948.hp2 NA18969.hp1 NA18997.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 a0001c0001t0002g0019 |
3 | 430 | 0.0070 | -18 | c.455 others(35): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 667221 | TGATGGTG others(11): Show |
T | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 394 | 0.0025 | -18 | c.455 others(35): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 667328 | TGATGGAG others(11): Show |
T | intron_variant | MODIFIER | NA18961.hp2 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0024 | 2 | 329 | 0.0061 | -18 | c.455 others(35): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 667334 | AGATGGTG others(11): Show |
A | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 396 | 0.0025 | -18 | c.455 others(35): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 667481 | TGATGGTG others(11): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01168.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 a0001c0001t0002g0324 |
2 | 435 | 0.0046 | -18 | c.455 others(35): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 667535 | TGATGGTG others(11): Show |
T | intron_variant | MODIFIER | HG02683.hp2 HG03834.hp1 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 a0001c0001t0002g0218 |
3 | 442 | 0.0068 | -18 | c.455 others(35): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYROBP_chr19_35899403_35913295 | 35910645 | AAATAATA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 NA18941.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0040 a0001c0003t0001g0029 |
2 | 163 | 0.0123 | -18 | c.-24 others(29): Show |
TYROBP | ENSG00000011600.12 | transcript | ENST00000262629.9 | protein_coding | 2351 | chr19 | TogoVar | |||||||
TYR_chr11_89172875_89300759 | 89252198 | TCCCTTGA others(11): Show |
T | intron_variant | MODIFIER | HG02922.hp2 HG06807.hp2 NA18522.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0123 a0001c0001t0001g0124 others(1): Show |
4 | 304 | 0.0132 | -18 | c.118 others(39): Show |
TYR | ENSG00000077498.9 | transcript | ENST00000263321.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TYR_chr11_89172875_89300759 | 89257471 | GTTATATA others(11): Show |
G | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 304 | 0.0033 | -18 | c.118 others(39): Show |
TYR | ENSG00000077498.9 | transcript | ENST00000263321.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TYSND1_chr10_70132981_70151700 | 70133098 | AAGAGAGA others(11): Show |
A | downstream_gene_variant | MODIFIER | HG01256.hp1 HG02895.hp2 HG02897.hp2 others(2): Show |
a0001a0006 | a0001c0002a0001c0003a0006c0008 | a0001c0002t0016a0001c0002t0029a0001c0003t0003others(2): Show | a0001c0002t0016g0097 a0001c0002t0029g0096 a0001c0003t0003g0003 others(2): Show |
5 | 53 | 0.0943 | -18 | c.*68 others(29): Show |
TYSND1 | ENSG00000156521.14 | transcript | ENST00000287078.7 | protein_coding | 4882 | chr10 | TogoVar | |||||||
TYSND1_chr10_70132981_70151700 | 70136527 | TTGTGTGT others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00621.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0001 | 1 | 24 | 0.0417 | -18 | c.*33 others(29): Show |
TYSND1 | ENSG00000156521.14 | transcript | ENST00000287078.7 | protein_coding | 1453 | chr10 | TogoVar | |||||||
TYSND1_chr10_70132981_70151700 | 70146045 | GCTCTCAG others(11): Show |
G | disruptive_inframe_deletion | MODERATE | HG00438.hp1 | a0010 | a0010c0023 | a0010c0023t0001 | a0010c0023t0001g0121 | 1 | 456 | 0.0022 | -18 | c.524 others(25): Show |
p.Glu others(13): Show |
TYSND1 | ENSG00000156521.14 | transcript | ENST00000287078.7 | protein_coding | 1/4 | 655/3758 | 524/1701 | 175/566 | chr10 | TogoVar | |||
TYW1B_chr7_72569513_72833200 | 72697031 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(136): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0007a0001c0018others(11): Show | a0001c0001t0001a0001c0007t0001a0001c0018t0001others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(136): Show |
139 | 175 | 0.7943 | -18 | c.137 others(37): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 10/13 | chr7 | TogoVar | |||||||
TYW1_chr7_66991833_67244514 | 67121124 | TGAATGTC others(11): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01069.hp1 others(71): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0021a0002c0003others(7): Show | a0001c0001t0001a0001c0021t0001a0002c0003t0002others(10): Show | a0001c0001t0001g0125 a0001c0001t0001g0208 a0001c0001t0001g0233 others(71): Show |
74 | 362 | 0.2044 | -18 | c.169 others(37): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67160522 | GTATACAT others(11): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01069.hp1 others(58): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0003a0002c0004others(2): Show | a0001c0001t0001a0002c0003t0002a0002c0003t0004others(5): Show | a0001c0001t0001g0125 a0001c0001t0001g0233 a0002c0003t0002g0123 others(58): Show |
61 | 184 | 0.3315 | -18 | c.169 others(39): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67201307 | AAACAACA others(11): Show |
A | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 60 | 0.0167 | -18 | c.197 others(37): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67211150 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG02723.hp2 HG02922.hp2 others(1): Show |
a0002 | a0002c0003a0002c0007 | a0002c0003t0002a0002c0007t0002 | a0002c0003t0002g0136 a0002c0003t0002g0137 a0002c0007t0002g0232 others(1): Show |
4 | 87 | 0.0460 | -18 | c.197 others(39): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67243391 | ATATATAT others(11): Show |
A | downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0218 | 1 | 217 | 0.0046 | -18 | c.*48 others(29): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 3878 | chr7 | TogoVar | |||||||
TYW5_chr2_199923913_199960491 | 199935749 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01192.hp2 HG01358.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0005 a0001c0001t0002g0179 a0001c0003t0002g0160 |
10 | 382 | 0.0262 | -18 | c.691 others(33): Show |
TYW5 | ENSG00000162971.11 | transcript | ENST00000354611.9 | protein_coding | 7/7 | chr2 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55661499 | GACACACA others(11): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG01070.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0002others(2): Show | a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 others(19): Show |
22 | 74 | 0.2973 | -18 | c.486 others(33): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UAP1_chr1_162556722_162606240 | 162577435 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG02155.hp2 NA18944.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0091 a0001c0001t0001g0102 others(3): Show |
9 | 244 | 0.0369 | -18 | c.485 others(33): Show |
UAP1 | ENSG00000117143.14 | transcript | ENST00000367925.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34195927 | GTTTTTTT others(11): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG02129.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 a0001c0001t0001g0261 a0001c0001t0001g0262 |
3 | 39 | 0.0769 | -18 | c.-8+ others(35): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34218250 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02738.hp2 HG02970.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0296 a0001c0001t0005g0258 a0001c0001t0005g0267 others(2): Show |
5 | 9 | 0.5556 | -18 | c.-7- others(33): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34220093 | TCCCCTCC others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01069.hp2 HG01071.hp1 others(10): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0002a0005c0007t0002 | a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 others(10): Show |
13 | 338 | 0.0385 | -18 | c.-7- others(31): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34226105 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00597.hp2 others(37): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(37): Show |
40 | 271 | 0.1476 | -18 | c.34+ others(33): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34231127 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 30 | 0.0333 | -18 | c.35- others(33): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP2_chr9_33916693_34053887 | 33939765 | GGGAGGAG others(11): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0223 a0001c0002t0001g0224 |
2 | 354 | 0.0056 | -18 | c.192 others(37): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 16/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33981103 | GATATATA others(11): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00733.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0044 a0001c0002t0001g0130 a0001c0002t0001g0172 others(4): Show |
7 | 220 | 0.0318 | -18 | c.520 others(35): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 6/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 34016177 | GAGGAAGA others(11): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(161): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0007others(11): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(14): Show | a0001c0002t0001g0044 a0001c0002t0001g0129 a0001c0002t0001g0130 others(161): Show |
164 | 354 | 0.4633 | -18 | c.99+ others(31): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 2/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 34016269 | AGAGAAGG others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01167.hp2 others(5): Show |
a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0228 a0002c0001t0004g0231 a0002c0001t0004g0232 others(5): Show |
8 | 351 | 0.0228 | -18 | c.99+ others(31): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 2/28 | chr9 | TogoVar | |||||||
UBASH3A_chr21_42398902_42452684 | 42399354 | TAAAAAAA others(11): Show |
T | upstream_gene_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01099.hp2 others(32): Show |
a0001a0007a0012 | a0001c0002a0001c0003a0001c0014others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(3): Show | a0001c0002t0001g0236 a0001c0002t0001g0297 a0001c0003t0001g0005 others(27): Show |
35 | 58 | 0.6034 | -18 | c.-45 others(29): Show |
UBASH3A | ENSG00000160185.15 | transcript | ENST00000319294.11 | protein_coding | 4547 | chr21 | TogoVar | |||||||
UBASH3B_chr11_122650722_122819473 | 122653543 | AGCAATTC others(11): Show |
A | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG02055.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0001c0022a0002c0004others(1): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0020others(8): Show | a0001c0001t0002g0005 a0001c0001t0010g0006 a0001c0001t0010g0010 others(11): Show |
14 | 288 | 0.0486 | -18 | c.-25 others(29): Show |
UBASH3B | ENSG00000154127.10 | transcript | ENST00000284273.6 | protein_coding | 2178 | chr11 | TogoVar | |||||||
UBASH3B_chr11_122650722_122819473 | 122690218 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG02698.hp2 | a0004 | a0004c0013 | a0004c0013t0008 | a0004c0013t0008g0048 | 1 | 288 | 0.0035 | -18 | c.161 others(37): Show |
UBASH3B | ENSG00000154127.10 | transcript | ENST00000284273.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UBASH3B_chr11_122650722_122819473 | 122699517 | CTCTTTCT others(11): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG01433.hp2 HG01943.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0004a0001c0001t0018a0001c0002t0001others(4): Show | a0001c0001t0004g0204 a0001c0001t0018g0130 a0001c0002t0001g0208 others(4): Show |
7 | 287 | 0.0244 | -18 | c.161 others(37): Show |
UBASH3B | ENSG00000154127.10 | transcript | ENST00000284273.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UBE2C_chr20_45807644_45821952 | 45813538 | TTGCTAGA others(11): Show |
T | intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 434 | 0.0023 | -18 | c.129 others(31): Show |
UBE2C | ENSG00000175063.17 | transcript | ENST00000356455.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
UBE2E2_chr3_23198327_23596794 | 23332674 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 163 | 0.0061 | -18 | c.227 others(39): Show |
UBE2E2 | ENSG00000182247.11 | transcript | ENST00000396703.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UBE2E2_chr3_23198327_23596794 | 23511602 | CAATTTTC others(11): Show |
C | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 336 | 0.0030 | -18 | c.360 others(37): Show |
UBE2E2 | ENSG00000182247.11 | transcript | ENST00000396703.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |