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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TTYH3_chr7_2626986_2669802 | 2627447 | A | AAAGATGG others(18): Show |
upstream_gene_variant | MODIFIER | HG01255.hp1 HG02622.hp2 |
a0002 | a0002c0003 | a0002c0003t0004a0002c0003t0017 | a0002c0003t0004g0187 a0002c0003t0017g0191 |
2 | 365 | 0.0055 | 25 | c.-47 others(36): Show |
TTYH3 | ENSG00000136295.16 | transcript | ENST00000258796.12 | protein_coding | 4538 | chr7 | TogoVar | |||||||
TUBA1B_chr12_49122782_49136395 | 49135253 | A | ATATATAT others(18): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 52 | 0.0385 | 25 | c.-39 others(36): Show |
TUBA1B | ENSG00000123416.15 | transcript | ENST00000336023.9 | protein_coding | 3859 | chr12 | TogoVar | |||||||
TUBA1B_chr12_49122782_49136395 | 49135253 | A | ATATATAT others(18): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 HG03041.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0005 a0001c0003t0001g0013 |
2 | 52 | 0.0385 | 25 | c.-39 others(36): Show |
TUBA1B | ENSG00000123416.15 | transcript | ENST00000336023.9 | protein_coding | 3859 | chr12 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222092 | C | CCACGACC others(18): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(168): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(8): Show |
171 | 325 | 0.5262 | 25 | c.*26 others(36): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 2184 | chr6 | TogoVar | |||||||
TULP2_chr19_48875967_48903744 | 48887311 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02129.hp1 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0153 |
3 | 12 | 0.2500 | 25 | c.948 others(40): Show |
TULP2 | ENSG00000104804.9 | transcript | ENST00000221399.8 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
TULP4_chr6_158307465_158516828 | 158348173 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02886.hp1 NA19043.hp1 |
a0001 | a0001c0027a0001c0029 | a0001c0027t0040a0001c0029t0038 | a0001c0027t0040g0236 a0001c0029t0038g0231 |
2 | 30 | 0.0667 | 25 | c.252 others(44): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TULP4_chr6_158307465_158516828 | 158385842 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0005 | a0001c0005t0012 | a0001c0005t0012g0252 | 1 | 92 | 0.0109 | 25 | c.253 others(44): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TULP4_chr6_158307465_158516828 | 158394786 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0015 | a0001c0015t0032 | a0001c0015t0032g0001 | 1 | 62 | 0.0161 | 25 | c.253 others(44): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TULP4_chr6_158307465_158516828 | 158453485 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA18942.hp2 NA18991.hp1 |
a0001 | a0001c0005 | a0001c0005t0012a0001c0005t0017 | a0001c0005t0012g0253 a0001c0005t0017g0254 |
2 | 93 | 0.0215 | 25 | c.859 others(42): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TUSC2_chr3_50319909_50333223 | 50329851 | C | CTGGATGG others(18): Show |
upstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 394 | 0.0025 | 25 | c.-17 others(36): Show |
TUSC2 | ENSG00000114383.10 | transcript | ENST00000232496.5 | protein_coding | 1629 | chr3 | TogoVar | |||||||
TUSC3_chr8_15535263_15771638 | 15570954 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02155.hp2 HG02615.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0004 | a0001c0001t0001g0166 a0001c0001t0001g0276 a0001c0001t0001g0294 others(3): Show |
6 | 58 | 0.1034 | 25 | c.138 others(44): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TUSC3_chr8_15535263_15771638 | 15648725 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0096 | 1 | 38 | 0.0263 | 25 | c.309 others(42): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TUSC3_chr8_15535263_15771638 | 15742226 | T | TGGCGGGA others(18): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 NA19006.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0029a0001c0001t0041 | a0001c0001t0025g0026 a0001c0001t0025g0027 a0001c0001t0029g0014 others(1): Show |
4 | 370 | 0.0108 | 25 | c.863 others(42): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TUSC3_chr8_15535263_15771638 | 15742232 | G | GAGGGTTG others(18): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(362): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(361): Show |
365 | 366 | 0.9973 | 25 | c.863 others(42): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TXK_chr4_48061393_48139250 | 48104380 | A | AATATTAT others(18): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0304 | 1 | 359 | 0.0028 | 25 | c.501 others(40): Show |
TXK | ENSG00000074966.11 | transcript | ENST00000264316.9 | protein_coding | 6/14 | chr4 | TogoVar | |||||||
TXK_chr4_48061393_48139250 | 48104408 | A | AATATTAT others(18): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0284 a0001c0001t0002g0295 |
2 | 360 | 0.0056 | 25 | c.501 others(40): Show |
TXK | ENSG00000074966.11 | transcript | ENST00000264316.9 | protein_coding | 6/14 | chr4 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52493215 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0219 | 1 | 198 | 0.0051 | 25 | c.757 others(42): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 9/20 | chr14 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52493216 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01515.hp2 HG03491.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0002 a0002c0003t0002g0010 |
3 | 140 | 0.0214 | 25 | c.757 others(42): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 9/20 | chr14 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52529576 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01081.hp1 HG01167.hp2 others(28): Show |
a0001a0007 | a0001c0002a0007c0012 | a0001c0002t0001a0007c0012t0001 | a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0068 others(27): Show |
31 | 76 | 0.4079 | 25 | c.392 others(42): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52529651 | T | TTATATAT others(18): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0118 | 1 | 233 | 0.0043 | 25 | c.392 others(42): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52529701 | A | ATACATAT others(18): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0009 | a0009c0008 | a0009c0008t0006 | a0009c0008t0006g0191 | 1 | 83 | 0.0120 | 25 | c.392 others(42): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52530258 | T | TATAATAA others(18): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01069.hp2 HG01167.hp1 others(17): Show |
a0001a0010 | a0001c0001a0010c0011 | a0001c0001t0001a0001c0001t0009a0001c0001t0014others(3): Show | a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 others(17): Show |
20 | 118 | 0.1695 | 25 | c.392 others(42): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
TXNDC8_chr9_110298476_110342863 | 110299979 | A | ATATATAT others(18): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 HG03139.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0314 a0002c0002t0001g0316 |
2 | 275 | 0.0073 | 25 | c.*37 others(36): Show |
TXNDC8 | ENSG00000204193.12 | transcript | ENST00000423740.7 | protein_coding | 3496 | chr9 | TogoVar | |||||||
TXNL4A_chr18_79965813_79993563 | 79969308 | G | GAGGAAAG others(18): Show |
downstream_gene_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 385 | 0.0026 | 25 | c.*43 others(36): Show |
TXNL4A | ENSG00000141759.15 | transcript | ENST00000269601.10 | protein_coding | 1504 | chr18 | TogoVar | |||||||
TXNL4A_chr18_79965813_79993563 | 79969331 | A | AAAAGAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG01168.hp1 HG01169.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0020 | a0001c0001t0003g0002 a0001c0001t0007g0012 a0001c0001t0020g0094 |
6 | 323 | 0.0186 | 25 | c.*43 others(36): Show |
TXNL4A | ENSG00000141759.15 | transcript | ENST00000269601.10 | protein_coding | 1481 | chr18 | TogoVar | |||||||
TXNRD1_chr12_104210779_104355307 | 104229562 | C | CATTTTAT others(18): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02055.hp2 HG02056.hp1 others(20): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0003others(2): Show | a0001c0002t0001g0284 a0001c0002t0001g0296 a0001c0002t0001g0297 others(20): Show |
23 | 194 | 0.1186 | 25 | c.91+ others(42): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TXNRD1_chr12_104210779_104355307 | 104254644 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0161 | 1 | 206 | 0.0049 | 25 | c.243 others(42): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TXNRD1_chr12_104210779_104355307 | 104254644 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18952.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001 a0001c0003t0001g0143 |
2 | 207 | 0.0097 | 25 | c.243 others(42): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TXNRD1_chr12_104210779_104355307 | 104254644 | A | AAAAAAAT others(18): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0158 | 1 | 206 | 0.0049 | 25 | c.243 others(42): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TXNRD1_chr12_104210779_104355307 | 104254644 | A | AAATATAT others(18): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0125 | 1 | 206 | 0.0049 | 25 | c.243 others(42): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TXNRD1_chr12_104210779_104355307 | 104254644 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0113 | 1 | 206 | 0.0049 | 25 | c.243 others(42): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 2/16 | chr12 | TogoVar | |||||||
TXNRD1_chr12_104210779_104355307 | 104267283 | C | CTTTCTTT others(18): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 296 | 0.0034 | 25 | c.304 others(42): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 3/16 | chr12 | TogoVar | |||||||
TXNRD2_chr22_19870522_19946818 | 19909874 | T | TCACACAA others(18): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0003 | a0003c0011 | a0003c0011t0002 | a0003c0011t0002g0204 | 1 | 267 | 0.0037 | 25 | c.662 others(42): Show |
TXNRD2 | ENSG00000184470.21 | transcript | ENST00000400521.7 | protein_coding | 8/17 | chr22 | TogoVar | |||||||
TXN_chr9_110238810_110261507 | 110245654 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 243 | 0.0041 | 25 | c.190 others(40): Show |
TXN | ENSG00000136810.13 | transcript | ENST00000374517.6 | protein_coding | 3/4 | chr9 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72632285 | G | GTATATAT others(18): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01433.hp2 HG02622.hp2 others(5): Show |
a0002a0005 | a0002c0003a0005c0008 | a0002c0003t0001a0005c0008t0001a0005c0008t0006 | a0002c0003t0001g0083 a0002c0003t0001g0279 a0005c0008t0001g0009 others(5): Show |
8 | 159 | 0.0503 | 25 | c.150 others(44): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 11/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72632367 | G | GTATATAT others(18): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02165.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0142 a0002c0003t0001g0144 |
2 | 266 | 0.0075 | 25 | c.150 others(44): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 11/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72632376 | T | TTATATAT others(18): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03927.hp2 NA18985.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0187 a0001c0002t0001g0209 a0001c0002t0001g0210 |
3 | 254 | 0.0118 | 25 | c.150 others(44): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 11/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72632388 | G | GTATATAT others(18): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00639.hp1 others(50): Show |
a0001a0002a0003 | a0001c0002a0001c0006a0002c0003others(1): Show | a0001c0002t0001a0001c0006t0001a0002c0003t0001others(2): Show | a0001c0002t0001g0205 a0001c0002t0001g0208 a0001c0002t0001g0211 others(50): Show |
53 | 208 | 0.2548 | 25 | c.150 others(44): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 11/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72632399 | T | TAATATAT others(18): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01433.hp2 HG02622.hp2 others(4): Show |
a0002a0005 | a0002c0003a0005c0008 | a0002c0003t0001a0005c0008t0001a0005c0008t0006 | a0002c0003t0001g0083 a0002c0003t0001g0279 a0005c0008t0001g0011 others(4): Show |
7 | 277 | 0.0253 | 25 | c.150 others(44): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 11/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72632438 | G | GTATATAT others(18): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0010 | a0010c0013 | a0010c0013t0004 | a0010c0013t0004g0001 | 1 | 125 | 0.0080 | 25 | c.150 others(44): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 11/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72632450 | A | AATATATA others(18): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0009 | 1 | 257 | 0.0039 | 25 | c.150 others(44): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 11/13 | chr7 | TogoVar | |||||||
TYW1_chr7_66991833_67244514 | 67112100 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA18999.hp1 NA19011.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0316 a0001c0002t0003g0333 |
2 | 89 | 0.0225 | 25 | c.156 others(44): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67241316 | C | CAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0309 | 1 | 277 | 0.0036 | 25 | c.*27 others(36): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 1803 | chr7 | TogoVar | |||||||
UBA2_chr19_34423381_34476251 | 34456100 | C | CTTTCTTT others(18): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 157 | 0.0064 | 25 | c.124 others(44): Show |
UBA2 | ENSG00000126261.13 | transcript | ENST00000246548.9 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UBA2_chr19_34423381_34476251 | 34456100 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 157 | 0.0064 | 25 | c.124 others(44): Show |
UBA2 | ENSG00000126261.13 | transcript | ENST00000246548.9 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UBA2_chr19_34423381_34476251 | 34457179 | A | AAAAATAT others(18): Show |
intron_variant | MODIFIER | HG01981.hp2 HG03942.hp2 NA19060.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0014 a0001c0002t0002g0017 a0001c0002t0002g0243 |
3 | 92 | 0.0326 | 25 | c.124 others(44): Show |
UBA2 | ENSG00000126261.13 | transcript | ENST00000246548.9 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99330458 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01981.hp1 HG03486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0174 a0001c0001t0003g0015 a0001c0001t0003g0113 others(1): Show |
4 | 19 | 0.2105 | 25 | c.562 others(42): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99338039 | C | CTTTTTTC others(18): Show |
intron_variant | MODIFIER | NA18944.hp2 NA18985.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0140 a0001c0001t0007g0243 |
2 | 245 | 0.0082 | 25 | c.562 others(42): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99338039 | C | CTTTTTTC others(18): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0346 | 1 | 244 | 0.0041 | 25 | c.562 others(42): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34181116 | C | CTTTCTTT others(18): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01346.hp2 HG01496.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0331 a0001c0001t0004g0332 a0001c0001t0004g0333 others(5): Show |
8 | 70 | 0.1143 | 25 | c.-8+ others(40): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |