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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TUBGCP5_chr15_22994177_23044569 | 23044183 | G | GGACAACA others(23): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 NA18960.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0083 a0001c0002t0002g0084 |
2 | 350 | 0.0057 | 30 | c.-46 others(41): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4615 | chr15 | TogoVar | |||||||
TUBGCP6_chr22_50212694_50250023 | 50225566 | A | ATTCATCT others(23): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02965.hp2 HG03471.hp1 others(1): Show |
a0001a0014 | a0001c0005a0014c0019 | a0001c0005t0001a0014c0019t0001 | a0001c0005t0001g0211 a0014c0019t0001g0209 a0014c0019t0001g0212 others(1): Show |
4 | 432 | 0.0093 | 30 | c.198 others(47): Show |
TUBGCP6 | ENSG00000128159.12 | transcript | ENST00000248846.10 | protein_coding | 10/24 | chr22 | TogoVar | |||||||
TUBGCP6_chr22_50212694_50250023 | 50225576 | G | GCTCCCCC others(23): Show |
intron_variant | MODIFIER | HG02922.hp1 NA19064.hp1 NA19090.hp1 |
a0002a0022 | a0002c0058a0022c0030 | a0002c0058t0002a0022c0030t0002 | a0002c0058t0002g0050 a0022c0030t0002g0083 a0022c0030t0002g0128 |
3 | 375 | 0.0080 | 30 | c.198 others(47): Show |
TUBGCP6 | ENSG00000128159.12 | transcript | ENST00000248846.10 | protein_coding | 10/24 | chr22 | TogoVar | |||||||
TUBGCP6_chr22_50212694_50250023 | 50225587 | G | GCACCCAC others(23): Show |
intron_variant | MODIFIER | HG02080.hp2 NA18950.hp2 NA18966.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0003 | a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0107 others(2): Show |
5 | 331 | 0.0151 | 30 | c.198 others(47): Show |
TUBGCP6 | ENSG00000128159.12 | transcript | ENST00000248846.10 | protein_coding | 10/24 | chr22 | TogoVar | |||||||
TUBGCP6_chr22_50212694_50250023 | 50225617 | A | ACACCCAC others(23): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0195 | 1 | 411 | 0.0024 | 30 | c.198 others(47): Show |
TUBGCP6 | ENSG00000128159.12 | transcript | ENST00000248846.10 | protein_coding | 10/24 | chr22 | TogoVar | |||||||
TUBGCP6_chr22_50212694_50250023 | 50243632 | A | AAAAAAGA others(23): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0341 | 1 | 394 | 0.0025 | 30 | c.741 others(43): Show |
TUBGCP6 | ENSG00000128159.12 | transcript | ENST00000248846.10 | protein_coding | 1/24 | chr22 | TogoVar | |||||||
TULP4_chr6_158307465_158516828 | 158385842 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18612.hp2 |
a0001a0009 | a0001c0008a0009c0038 | a0001c0008t0087a0009c0038t0010 | a0001c0008t0087g0168 a0009c0038t0010g0169 |
2 | 93 | 0.0215 | 30 | c.253 others(49): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TULP4_chr6_158307465_158516828 | 158453509 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0005 | a0001c0005t0044 | a0001c0005t0044g0227 | 1 | 266 | 0.0038 | 30 | c.859 others(47): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 5/13 | chr6 | TogoVar | |||||||
TUSC3_chr8_15535263_15771638 | 15570954 | G | GTTTTTTT others(23): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 53 | 0.0189 | 30 | c.138 others(49): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TUSC3_chr8_15535263_15771638 | 15573202 | C | CTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0003 | a0002c0003t0031 | a0002c0003t0031g0122 | 1 | 170 | 0.0059 | 30 | c.138 others(49): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TUSC3_chr8_15535263_15771638 | 15617120 | A | ATGTGTGT others(23): Show |
intron_variant | MODIFIER | HG00423.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0183 a0001c0001t0008g0136 |
2 | 94 | 0.0213 | 30 | c.139 others(47): 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(23): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0059 | 1 | 38 | 0.0263 | 30 | c.309 others(47): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TUSC3_chr8_15535263_15771638 | 15738827 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0364 | 1 | 167 | 0.0060 | 30 | c.863 others(47): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TVP23A_chr16_10761675_10823794 | 10803268 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0210 | 1 | 362 | 0.0028 | 30 | c.89+ others(47): Show |
TVP23A | ENSG00000166676.17 | transcript | ENST00000299866.13 | protein_coding | 2/7 | chr16 | TogoVar | |||||||
TVP23A_chr16_10761675_10823794 | 10803268 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 | 1 | 362 | 0.0028 | 30 | c.89+ others(47): Show |
TVP23A | ENSG00000166676.17 | transcript | ENST00000299866.13 | protein_coding | 2/7 | chr16 | TogoVar | |||||||
TVP23C_chr17_15531980_15568483 | 15563602 | A | AGGGGCGG others(23): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG01361.hp1 HG02647.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0012a0001c0001t0015others(3): Show | a0001c0001t0006g0013 a0001c0001t0006g0056 a0001c0001t0012g0023 others(5): Show |
9 | 49 | 0.1837 | 30 | c.-15 others(39): Show |
TVP23C | ENSG00000175106.17 | transcript | ENST00000518321.6 | protein_coding | 120 | chr17 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870169 | A | ACACCCCA others(23): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01515.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0254 a0001c0001t0002g0260 a0001c0001t0002g0261 |
3 | 307 | 0.0098 | 30 | c.*35 others(49): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870245 | A | ACACCCCA others(23): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 313 | 0.0032 | 30 | c.*35 others(49): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870357 | A | ACACACAC others(23): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333 | 1 | 240 | 0.0042 | 30 | c.*35 others(49): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870989 | A | ACCCCACA others(23): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 228 | 0.0044 | 30 | c.*35 others(49): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TXLNG_chrX_16781466_16849519 | 16782389 | A | AATATATA others(23): Show |
upstream_gene_variant | MODIFIER | NA18983.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 a0001c0001t0001g0211 |
2 | 11 | 0.1818 | 30 | c.-40 others(41): Show |
TXLNG | ENSG00000086712.13 | transcript | ENST00000380122.10 | protein_coding | 4076 | chrX | TogoVar | |||||||
TXLNG_chrX_16781466_16849519 | 16830830 | C | CGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01515.hp1 HG01517.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0013 a0001c0001t0001g0218 a0001c0001t0001g0226 others(4): Show |
8 | 18 | 0.4444 | 30 | c.864 others(47): Show |
TXLNG | ENSG00000086712.13 | transcript | ENST00000380122.10 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52493216 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0009 | a0009c0008 | a0009c0008t0006 | a0009c0008t0006g0191 | 1 | 138 | 0.0072 | 30 | c.757 others(47): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 9/20 | chr14 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52530258 | T | TATAATAA others(23): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01099.hp2 HG01884.hp1 others(30): Show |
a0002 | a0002c0003a0002c0009 | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(3): Show | a0002c0003t0001g0206 a0002c0003t0002g0193 a0002c0003t0002g0194 others(30): Show |
33 | 131 | 0.2519 | 30 | c.392 others(47): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52530258 | T | TATAATAA others(23): Show |
intron_variant | MODIFIER | NA18960.hp1 NA19074.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0196 a0002c0003t0002g0197 |
2 | 100 | 0.0200 | 30 | c.392 others(47): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
TXNDC9_chr2_99313982_99341333 | 99338922 | G | GTGTATAT others(23): Show |
upstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 50 | 0.0200 | 30 | c.-27 others(41): Show |
TXNDC9 | ENSG00000115514.12 | transcript | ENST00000264255.8 | protein_coding | 2590 | chr2 | TogoVar | |||||||
TXNDC9_chr2_99313982_99341333 | 99338993 | A | AATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 2 | 242 | 0.0083 | 30 | c.-27 others(41): Show |
TXNDC9 | ENSG00000115514.12 | transcript | ENST00000264255.8 | protein_coding | 2661 | chr2 | TogoVar | |||||||
TXNRD1_chr12_104210779_104355307 | 104229562 | C | CATTTTAT others(23): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02004.hp2 HG02055.hp1 others(14): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0298 a0001c0002t0001g0300 a0001c0002t0002g0048 others(14): Show |
17 | 188 | 0.0904 | 30 | c.91+ others(47): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TXNRD1_chr12_104210779_104355307 | 104254644 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0122 | 1 | 206 | 0.0049 | 30 | c.243 others(47): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TXNRD1_chr12_104210779_104355307 | 104267280 | T | TTTCTTTC others(23): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 297 | 0.0034 | 30 | c.304 others(47): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TXNRD1_chr12_104210779_104355307 | 104290731 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0175 | 1 | 300 | 0.0033 | 30 | c.414 others(47): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TXNRD3_chr3_126602050_126660124 | 126604365 | T | TGGGGGGG others(23): Show |
downstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 352 | 0.0028 | 30 | c.*35 others(41): Show |
TXNRD3 | ENSG00000197763.20 | transcript | ENST00000524230.9 | protein_coding | 2684 | chr3 | TogoVar | |||||||
TXN_chr9_110238810_110261507 | 110245618 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0032 | 1 | 314 | 0.0032 | 30 | c.190 others(45): Show |
TXN | ENSG00000136810.13 | transcript | ENST00000374517.6 | protein_coding | 3/4 | chr9 | TogoVar | |||||||
TXN_chr9_110238810_110261507 | 110245618 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 314 | 0.0032 | 30 | c.190 others(45): Show |
TXN | ENSG00000136810.13 | transcript | ENST00000374517.6 | protein_coding | 3/4 | chr9 | TogoVar | |||||||
TYR_chr11_89172875_89300759 | 89177176 | G | GGAGAGGG others(23): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 HG02965.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0121 a0001c0001t0001g0122 |
3 | 300 | 0.0100 | 30 | c.-77 others(39): Show |
TYR | ENSG00000077498.9 | transcript | ENST00000263321.6 | protein_coding | 698 | chr11 | TogoVar | |||||||
TYR_chr11_89172875_89300759 | 89198754 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0285 | 1 | 212 | 0.0047 | 30 | c.103 others(49): Show |
TYR | ENSG00000077498.9 | transcript | ENST00000263321.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TYSND1_chr10_70132981_70151700 | 70149547 | A | ATTTTTTT others(23): Show |
upstream_gene_variant | MODIFIER | HG03710.hp1 NA19030.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0006 a0002c0001t0001g0115 |
2 | 26 | 0.0769 | 30 | c.-29 others(41): Show |
TYSND1 | ENSG00000156521.14 | transcript | ENST00000287078.7 | protein_coding | 2848 | chr10 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70700301 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03098.hp2 HG03130.hp1 others(3): Show |
a0001a0003a0007 | a0001c0001a0001c0003a0003c0006others(1): Show | a0001c0001t0001a0001c0003t0002a0003c0006t0002others(1): Show | a0001c0001t0001g0236 a0001c0003t0002g0206 a0001c0003t0002g0207 others(3): Show |
6 | 264 | 0.0227 | 30 | c.79- others(43): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70700318 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0258 | 1 | 264 | 0.0038 | 30 | c.79- others(43): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70700318 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03195.hp1 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0264 a0001c0004t0003g0265 |
2 | 265 | 0.0075 | 30 | c.79- others(43): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70735147 | T | TAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00741.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0003 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0018 others(12): Show |
15 | 121 | 0.1240 | 30 | c.78+ others(47): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70735147 | T | TAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01168.hp1 HG02074.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0060 a0001c0001t0001g0119 a0001c0001t0001g0121 others(4): Show |
7 | 113 | 0.0619 | 30 | c.78+ others(47): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UBA2_chr19_34423381_34476251 | 34456100 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01243.hp1 HG02683.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0111 |
3 | 159 | 0.0189 | 30 | c.124 others(49): Show |
UBA2 | ENSG00000126261.13 | transcript | ENST00000246548.9 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UBA2_chr19_34423381_34476251 | 34465554 | T | TTGAACCG others(23): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0241 | 1 | 318 | 0.0031 | 30 | c.160 others(49): Show |
UBA2 | ENSG00000126261.13 | transcript | ENST00000246548.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UBA6_chr4_67607652_67706155 | 67652146 | T | TTTGTGAT others(23): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0241 | 1 | 322 | 0.0031 | 30 | c.110 others(49): Show |
UBA6 | ENSG00000033178.13 | transcript | ENST00000322244.10 | protein_coding | 13/32 | chr4 | TogoVar | |||||||
UBA6_chr4_67607652_67706155 | 67659607 | G | GGTATTTT others(23): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(160): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0004a0002c0011others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(22): Show | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0012 others(152): Show |
163 | 244 | 0.6680 | 30 | c.110 others(49): Show |
UBA6 | ENSG00000033178.13 | transcript | ENST00000322244.10 | protein_coding | 13/32 | chr4 | TogoVar | |||||||
UBAC2_chr13_99195854_99391504 | 99232397 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00733.hp1 NA18956.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0051 others(2): Show |
5 | 315 | 0.0159 | 30 | c.32- others(45): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99232399 | G | GAGATAGA others(23): Show |
intron_variant | MODIFIER | HG01346.hp2 NA18975.hp1 NA18990.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 others(2): Show |
5 | 205 | 0.0244 | 30 | c.32- others(45): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99232399 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02056.hp2 HG02148.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0032 others(7): Show |
10 | 210 | 0.0476 | 30 | c.32- others(45): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99300986 | T | TACCTTAA others(23): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02602.hp2 HG03491.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0233 a0001c0001t0002g0322 a0001c0001t0002g0323 others(1): Show |
4 | 378 | 0.0106 | 30 | c.390 others(49): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 4/8 | chr13 | TogoVar |