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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TSPAN9_chr12_3072379_3291559 | 3226724 | GTGTGTGT others(39): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02965.hp2 HG03225.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0032a0001c0002t0030 | a0001c0001t0009g0089 a0001c0001t0032g0038 a0001c0002t0030g0114 |
3 | 288 | 0.0104 | -46 | c.63+ others(63): Show |
TSPAN9 | ENSG00000011105.14 | transcript | ENST00000011898.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TSPAN9_chr12_3072379_3291559 | 3235205 | AAAAAAAA others(39): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073 | 1 | 288 | 0.0035 | -46 | c.63+ others(63): Show |
TSPAN9 | ENSG00000011105.14 | transcript | ENST00000011898.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TSPAN9_chr12_3072379_3291559 | 3268201 | TCTGTGCG others(39): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0282 | 1 | 288 | 0.0035 | -46 | c.64- others(63): Show |
TSPAN9 | ENSG00000011105.14 | transcript | ENST00000011898.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TSPEAR_chr21_44492893_44716572 | 44502851 | TGGGGGGA others(39): Show |
T | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 294 | 0.0034 | -46 | c.185 others(65): Show |
TSPEAR | ENSG00000175894.18 | transcript | ENST00000323084.9 | protein_coding | 11/11 | chr21 | TogoVar | |||||||
TSPEAR_chr21_44492893_44716572 | 44503464 | CGGTGAGC others(39): Show |
C | intron_variant | MODIFIER | NA19087.hp1 | a0012 | a0012c0021 | a0012c0021t0013 | a0012c0021t0013g0041 | 1 | 294 | 0.0034 | -46 | c.185 others(65): Show |
TSPEAR | ENSG00000175894.18 | transcript | ENST00000323084.9 | protein_coding | 11/11 | chr21 | TogoVar | |||||||
TSTD3_chr6_99516049_99538185 | 99535901 | GTATATAC others(39): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(339): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(149): Show |
342 | 436 | 0.7844 | -46 | c.*41 others(57): Show |
TSTD3 | ENSG00000279170.3 | transcript | ENST00000452647.3 | protein_coding | 2717 | chr6 | TogoVar | |||||||
TTC21B_chr2_165868362_165958776 | 165927200 | ATATATAT others(39): Show |
A | intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 408 | 0.0025 | -46 | c.138 others(65): Show |
TTC21B | ENSG00000123607.16 | transcript | ENST00000243344.8 | protein_coding | 11/28 | chr2 | TogoVar | |||||||
TTC28_chr22_27973014_28684840 | 28032225 | ATATATAT others(39): Show |
A | intron_variant | MODIFIER | HG03139.hp1 HG03486.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0035 | a0001c0001t0024g0185 a0001c0001t0024g0186 a0001c0001t0035g0182 |
3 | 196 | 0.0153 | -46 | c.393 others(65): Show |
TTC28 | ENSG00000100154.15 | transcript | ENST00000397906.7 | protein_coding | 12/22 | chr22 | TogoVar | |||||||
TTC39C_chr18_24009754_24140600 | 24023935 | TATATATA others(39): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01257.hp2 HG01258.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0106 a0001c0001t0001g0181 a0001c0001t0001g0184 others(29): Show |
32 | 328 | 0.0976 | -46 | c.167 others(63): Show |
TTC39C | ENSG00000168234.13 | transcript | ENST00000317571.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TTC9_chr14_70636916_70680366 | 70668403 | AAAAGTGT others(39): Show |
A | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0045 | 1 | 446 | 0.0022 | -46 | c.589 others(61): Show |
TTC9 | ENSG00000133985.3 | transcript | ENST00000256367.3 | protein_coding | 2/2 | chr14 | TogoVar | |||||||
TTLL10_chr1_1168880_1202936 | 1196339 | CAAGGGCA others(39): Show |
C | intron_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0189 | 1 | 382 | 0.0026 | -46 | c.140 others(63): Show |
TTLL10 | ENSG00000162571.14 | transcript | ENST00000379289.6 | protein_coding | 13/15 | chr1 | TogoVar | |||||||
TTLL11_chr9_121810674_122098308 | 121826467 | GTATATAT others(39): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG01928.hp1 HG02300.hp2 others(3): Show |
a0001a0004a0005 | a0001c0001a0004c0005a0005c0004 | a0001c0001t0001a0001c0001t0014a0004c0005t0001others(1): Show | a0001c0001t0001g0092 a0001c0001t0014g0068 a0001c0001t0014g0086 others(3): Show |
6 | 174 | 0.0345 | -46 | c.184 others(65): Show |
TTLL11 | ENSG00000175764.17 | transcript | ENST00000321582.11 | protein_coding | 8/8 | chr9 | TogoVar | |||||||
TTLL11_chr9_121810674_122098308 | 121826511 | ATATGTAT others(39): Show |
A | intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 174 | 0.0058 | -46 | c.184 others(65): Show |
TTLL11 | ENSG00000175764.17 | transcript | ENST00000321582.11 | protein_coding | 8/8 | chr9 | TogoVar | |||||||
TUBGCP3_chr13_112480011_112593153 | 112579566 | CGGCATCC others(39): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0007 | a0001c0007t0010 | a0001c0007t0010g0011 | 1 | 312 | 0.0032 | -46 | c.76+ others(61): Show |
TUBGCP3 | ENSG00000126216.15 | transcript | ENST00000261965.8 | protein_coding | 1/21 | chr13 | TogoVar | |||||||
TYMS_chr18_652653_678578 | 667429 | GAGATGGT others(39): Show |
G | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0409 | 1 | 482 | 0.0021 | -46 | c.455 others(63): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
UBAC2_chr13_99195854_99391504 | 99249765 | ATTCTGAC others(39): Show |
A | intron_variant | MODIFIER | HG00609.hp2 NA18974.hp2 NA18975.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0014 | a0001c0001t0002g0097 a0001c0001t0003g0012 a0001c0001t0003g0013 others(4): Show |
7 | 380 | 0.0184 | -46 | c.389 others(63): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBL3_chr13_29759371_29855617 | 29835079 | TATAAATA others(39): Show |
T | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0341 | 1 | 392 | 0.0026 | -46 | c.27+ others(63): Show |
UBL3 | ENSG00000122042.10 | transcript | ENST00000380680.5 | protein_coding | 1/4 | chr13 | TogoVar | |||||||
UBL3_chr13_29759371_29855617 | 29835083 | AATATAAA others(39): Show |
A | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0337 | 1 | 392 | 0.0026 | -46 | c.27+ others(63): Show |
UBL3 | ENSG00000122042.10 | transcript | ENST00000380680.5 | protein_coding | 1/4 | chr13 | TogoVar | |||||||
UBL3_chr13_29759371_29855617 | 29835089 | AATATATA others(39): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01358.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0018 | a0001c0001t0001g0223 a0001c0001t0002g0271 a0001c0001t0018g0373 |
3 | 392 | 0.0077 | -46 | c.27+ others(63): Show |
UBL3 | ENSG00000122042.10 | transcript | ENST00000380680.5 | protein_coding | 1/4 | chr13 | TogoVar | |||||||
UBL3_chr13_29759371_29855617 | 29835107 | AATATATA others(39): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0082 | 1 | 392 | 0.0026 | -46 | c.27+ others(63): Show |
UBL3 | ENSG00000122042.10 | transcript | ENST00000380680.5 | protein_coding | 1/4 | chr13 | TogoVar | |||||||
UBN1_chr16_4842481_4887401 | 4883855 | GGTCATGT others(39): Show |
G | downstream_gene_variant | MODIFIER | HG06807.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0006 | 1 | 376 | 0.0027 | -46 | c.*37 others(57): Show |
UBN1 | ENSG00000118900.15 | transcript | ENST00000262376.11 | protein_coding | 1455 | chr16 | TogoVar | |||||||
UGT3A2_chr5_36030021_36071882 | 36030087 | GCCACTTG others(39): Show |
G | downstream_gene_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 410 | 0.0024 | -46 | c.*55 others(57): Show |
UGT3A2 | ENSG00000168671.10 | transcript | ENST00000282507.8 | protein_coding | 4933 | chr5 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41856531 | ATGTATGT others(39): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0019 | a0019c0017 | a0019c0017t0001 | a0019c0017t0001g0022 | 1 | 72 | 0.0139 | -46 | c.165 others(67): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 17/36 | chr3 | TogoVar | |||||||
UMODL1_chr21_42066317_42147996 | 42140289 | AAAGGGAT others(39): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00438.hp1 others(81): Show |
a0004a0006a0009others(33): Show | a0004c0005a0004c0031a0004c0032others(45): Show | a0004c0005t0002a0004c0031t0002a0004c0032t0002others(45): Show | a0004c0005t0002g0012 a0004c0005t0002g0164 a0004c0005t0002g0167 others(80): Show |
84 | 400 | 0.2100 | -46 | c.*22 others(63): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35271680 | TATGTATA others(39): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0010 | 1 | 64 | 0.0156 | -46 | c.103 others(65): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
URGCP_chr7_43870913_43911596 | 43909834 | GGAGTTCA others(39): Show |
G | upstream_gene_variant | MODIFIER | HG00423.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0271 | 1 | 404 | 0.0025 | -46 | c.-33 others(57): Show |
URGCP | ENSG00000106608.17 | transcript | ENST00000453200.6 | protein_coding | 3239 | chr7 | TogoVar | |||||||
URI1_chr19_29937239_30021612 | 29948990 | GGCTGGCC others(39): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG01891.hp2 HG02647.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0181 a0002c0002t0001g0005 a0002c0002t0001g0006 others(1): Show |
4 | 328 | 0.0122 | -46 | c.117 others(63): Show |
URI1 | ENSG00000105176.18 | transcript | ENST00000392271.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
USP40_chr2_233470526_233571782 | 233494915 | CATATATA others(39): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(34): Show |
a0004a0009 | a0004c0004a0004c0013a0004c0020others(2): Show | a0004c0004t0003a0004c0004t0008a0004c0004t0018others(4): Show | a0004c0004t0003g0045 a0004c0004t0003g0049 a0004c0004t0003g0050 others(34): Show |
37 | 324 | 0.1142 | -46 | c.279 others(65): Show |
USP40 | ENSG00000085982.16 | transcript | ENST00000678225.2 | protein_coding | 24/31 | chr2 | TogoVar | |||||||
UVSSA_chr4_1342208_1393049 | 1372770 | CAGGGCAC others(39): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(106): Show |
a0001a0002a0003others(7): Show | a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0003t0001a0001c0003t0045a0001c0004t0001others(23): Show | a0001c0003t0001g0095 a0001c0003t0001g0096 a0001c0003t0001g0097 others(91): Show |
109 | 400 | 0.2725 | -46 | c.128 others(65): Show |
UVSSA | ENSG00000163945.19 | transcript | ENST00000389851.10 | protein_coding | 8/13 | chr4 | TogoVar | |||||||
UVSSA_chr4_1342208_1393049 | 1372794 | TGCACTCA others(39): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0009 | a0009c0016 | a0009c0016t0016 | a0009c0016t0016g0087 | 1 | 400 | 0.0025 | -46 | c.128 others(65): Show |
UVSSA | ENSG00000163945.19 | transcript | ENST00000389851.10 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
VAC14_chr16_70682439_70806158 | 70742957 | CTAAATGC others(39): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 NA18941.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 a0001c0001t0001g0267 a0001c0001t0001g0273 others(4): Show |
7 | 322 | 0.0217 | -46 | c.152 others(65): Show |
VAC14 | ENSG00000103043.15 | transcript | ENST00000261776.10 | protein_coding | 13/18 | chr16 | TogoVar | |||||||
VAMP3_chr1_7766296_7786432 | 7782289 | ACTTCCTC others(39): Show |
A | downstream_gene_variant | MODIFIER | HG02818.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0058 |
2 | 446 | 0.0045 | -46 | c.*26 others(57): Show |
VAMP3 | ENSG00000049245.13 | transcript | ENST00000054666.11 | protein_coding | 858 | chr1 | TogoVar | |||||||
VDR_chr12_47836537_47909994 | 47859878 | CTTCCTTC others(39): Show |
C | intron_variant | MODIFIER | HG01952.hp1 HG03669.hp2 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0101 a0002c0002t0005g0110 |
2 | 358 | 0.0056 | -46 | c.278 others(63): Show |
VDR | ENSG00000111424.12 | transcript | ENST00000549336.6 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
VDR_chr12_47836537_47909994 | 47859890 | CTTCCTTC others(39): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0052 | 1 | 358 | 0.0028 | -46 | c.278 others(63): Show |
VDR | ENSG00000111424.12 | transcript | ENST00000549336.6 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
VEGFC_chr4_176678538_176797922 | 176795639 | CATATTGA others(39): Show |
C | upstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203 | 1 | 224 | 0.0045 | -46 | c.-33 others(57): Show |
VEGFC | ENSG00000150630.4 | transcript | ENST00000618562.2 | protein_coding | 2718 | chr4 | TogoVar | |||||||
VGLL4_chr3_11551069_11648915 | 11573271 | GAAAGAAA others(39): Show |
G | intron_variant | MODIFIER | HG01993.hp1 HG02109.hp2 HG02165.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0016a0001c0002t0002others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0039 others(4): Show |
7 | 388 | 0.0180 | -46 | c.273 others(63): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 2/4 | chr3 | TogoVar | |||||||
VGLL4_chr3_11551069_11648915 | 11573301 | AAGAAAGG others(39): Show |
A | intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0279 | 1 | 388 | 0.0026 | -46 | c.273 others(63): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 2/4 | chr3 | TogoVar | |||||||
VIL1_chr2_218414123_218458295 | 218415933 | CTCTCTCT others(39): Show |
C | upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 336 | 0.0030 | -46 | c.-32 others(57): Show |
VIL1 | ENSG00000127831.11 | transcript | ENST00000248444.10 | protein_coding | 3189 | chr2 | TogoVar | |||||||
VPS16_chr20_2835745_2871732 | 2867474 | TTCCGTTG others(39): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(342): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0025 others(314): Show |
345 | 408 | 0.8456 | -46 | c.*90 others(55): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 743 | chr20 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38720516 | ATATATAT others(39): Show |
A | downstream_gene_variant | MODIFIER | HG04204.hp1 NA18906.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0023a0001c0001t0028a0001c0003t0056 | a0001c0001t0023g0085 a0001c0001t0028g0198 a0001c0003t0056g0074 |
3 | 278 | 0.0108 | -46 | c.*56 others(57): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 2457 | chr7 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 513604 | TGAGTGCT others(39): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(71): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0016others(50): Show | a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 others(71): Show |
74 | 232 | 0.3190 | -46 | c.*54 others(57): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 22/22 | 5478 | chr17 | TogoVar | ||||||
VPS53_chr17_503668_719839 | 513758 | GGAAGGAA others(39): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01074.hp2 HG01168.hp2 NA18950.hp1 |
a0001 | a0001c0001a0001c0014a0001c0020 | a0001c0001t0094a0001c0014t0051a0001c0020t0052 | a0001c0001t0094g0129 a0001c0014t0051g0091 a0001c0020t0052g0099 |
3 | 232 | 0.0129 | -46 | c.*53 others(57): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 22/22 | 5324 | chr17 | TogoVar | ||||||
VPS53_chr17_503668_719839 | 514090 | TCATTTCC others(39): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02572.hp1 HG03516.hp2 |
a0001 | a0001c0002a0001c0017 | a0001c0002t0078a0001c0017t0135 | a0001c0002t0078g0041 a0001c0017t0135g0166 |
2 | 232 | 0.0086 | -46 | c.*49 others(57): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 22/22 | 4992 | chr17 | TogoVar | ||||||
VPS53_chr17_503668_719839 | 514403 | TAAGGAAT others(39): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01074.hp2 HG02074.hp2 HG02135.hp2 others(6): Show |
a0001a0002a0003 | a0001c0002a0001c0006a0001c0014others(2): Show | a0001c0002t0010a0001c0002t0043a0001c0006t0019others(6): Show | a0001c0002t0010g0087 a0001c0002t0043g0064 a0001c0006t0019g0007 others(6): Show |
9 | 232 | 0.0388 | -46 | c.*46 others(57): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 22/22 | 4679 | chr17 | TogoVar | ||||||
VPS53_chr17_503668_719839 | 658055 | GGAGTTCG others(39): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(38): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(20): Show | a0001c0002t0001g0045 a0001c0002t0001g0056 a0001c0002t0001g0066 others(38): Show |
41 | 232 | 0.1767 | -46 | c.373 others(63): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 5/21 | chr17 | TogoVar | |||||||
VPS8_chr3_184807166_185057604 | 184998479 | TTATATAT others(39): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0030 | 1 | 274 | 0.0037 | -46 | c.383 others(65): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 44/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VSIG1_chrX_108040065_108084184 | 108042477 | GTGCCCCT others(39): Show |
G | upstream_gene_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 281 | 0.0036 | -46 | c.-26 others(57): Show |
VSIG1 | ENSG00000101842.14 | transcript | ENST00000217957.10 | protein_coding | 2587 | chrX | TogoVar | |||||||
VWA3A_chr16_22087541_22161964 | 22115882 | GAAGGAAG others(39): Show |
G | intron_variant | MODIFIER | HG01175.hp2 HG01346.hp2 HG03130.hp2 others(9): Show |
a0001a0002a0012others(1): Show | a0001c0001a0001c0037a0002c0002others(2): Show | a0001c0001t0001a0001c0037t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0259 a0001c0001t0001g0284 others(9): Show |
12 | 294 | 0.0408 | -46 | c.815 others(61): Show |
VWA3A | ENSG00000175267.15 | transcript | ENST00000389398.10 | protein_coding | 9/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VWF_chr12_5943877_6129670 | 6120196 | CCAGGTGT others(39): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0078 | a0078c0082 | a0078c0082t0001 | a0078c0082t0001g0174 | 1 | 288 | 0.0035 | -46 | c.220 others(61): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 3/51 | chr12 | TogoVar | |||||||
VXN_chr8_66488566_66523524 | 66502787 | GCACAGAG others(39): Show |
G | intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 332 | 0.0030 | -46 | c.127 others(63): Show |
VXN | ENSG00000169085.14 | transcript | ENST00000305454.8 | protein_coding | 2/5 | chr8 | TogoVar |