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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TTC5_chr14_20281227_20310951 | 20304590 | CCTGCACC others(41): Show |
C | intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0210 | 1 | 414 | 0.0024 | -48 | c.51+ others(63): Show |
TTC5 | ENSG00000136319.12 | transcript | ENST00000258821.8 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
TTC5_chr14_20281227_20310951 | 20310602 | GGGGGGGC others(41): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(116): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(35): Show |
119 | 414 | 0.2874 | -48 | c.-47 others(59): Show |
TTC5 | ENSG00000136319.12 | transcript | ENST00000258821.8 | protein_coding | 4652 | chr14 | TogoVar | |||||||
TTLL5_chr14_75656246_75960079 | 75925135 | TGGCTGAC others(41): Show |
T | intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 195 | 0.0051 | -48 | c.382 others(69): Show |
TTLL5 | ENSG00000119685.20 | transcript | ENST00000298832.14 | protein_coding | 31/31 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TUBA8_chr22_18105809_18136732 | 18106278 | TGTGGTTC others(41): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02922.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0320 a0001c0001t0002g0324 a0001c0004t0001g0307 others(6): Show |
9 | 422 | 0.0213 | -48 | c.-45 others(59): Show |
TUBA8 | ENSG00000183785.16 | transcript | ENST00000330423.8 | protein_coding | 4530 | chr22 | TogoVar | |||||||
TUBA8_chr22_18105809_18136732 | 18106457 | CGAGAGCT others(41): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 422 | 0.0024 | -48 | c.-44 others(59): Show |
TUBA8 | ENSG00000183785.16 | transcript | ENST00000330423.8 | protein_coding | 4351 | chr22 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133288335 | GGTGCCCA others(41): Show |
G | intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0233 | 1 | 282 | 0.0035 | -48 | c.154 others(63): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 10/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291663 | CCGTGTCC others(41): Show |
C | intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0060 | 1 | 278 | 0.0036 | -48 | c.121 others(65): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291669 | CCCGGGGA others(41): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0004 | a0004c0013 | a0004c0013t0001 | a0004c0013t0001g0095 | 1 | 282 | 0.0035 | -48 | c.121 others(65): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291757 | CCGTGTCC others(41): Show |
C | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0062 | 1 | 282 | 0.0035 | -48 | c.121 others(65): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291858 | CCCGGGGA others(41): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02922.hp2 NA20129.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0012 a0001c0002t0003g0077 |
3 | 282 | 0.0106 | -48 | c.121 others(65): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291957 | CCGTGTCC others(41): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 282 | 0.0035 | -48 | c.121 others(65): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133292075 | GTGTCCCT others(41): Show |
G | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0055 | 1 | 273 | 0.0037 | -48 | c.121 others(65): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP6_chr22_50212694_50250023 | 50228233 | GGCCCACC others(41): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(287): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0005a0001c0012others(50): Show | a0001c0001t0002a0001c0005t0001a0001c0005t0002others(59): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0008 others(249): Show |
290 | 423 | 0.6856 | -48 | c.129 others(65): Show |
TUBGCP6 | ENSG00000128159.12 | transcript | ENST00000248846.10 | protein_coding | 4/24 | chr22 | TogoVar | |||||||
TULP4_chr6_158307465_158516828 | 158331718 | CACACACA others(41): Show |
C | intron_variant | MODIFIER | HG02895.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0005a0001c0012 | a0001c0005t0044a0001c0012t0016a0001c0012t0043 | a0001c0005t0044g0227 a0001c0012t0016g0225 a0001c0012t0016g0228 others(1): Show |
4 | 58 | 0.0690 | -48 | c.252 others(67): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238871054 | CACACCCC others(41): Show |
C | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 336 | 0.0030 | -48 | c.*35 others(67): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238905904 | CGTGTGTG others(41): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0310 | 1 | 220 | 0.0045 | -48 | c.*36 others(65): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TXNRD1_chr12_104210779_104355307 | 104323636 | CCCCCACC others(41): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG03041.hp1 NA20129.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 |
3 | 300 | 0.0100 | -48 | c.121 others(67): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 666939 | AGATGGTG others(41): Show |
A | intron_variant | MODIFIER | HG02922.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0038 | 2 | 381 | 0.0052 | -48 | c.455 others(65): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 666951 | TGATGGAG others(41): Show |
T | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 433 | 0.0023 | -48 | c.455 others(65): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 667017 | AGATGGAG others(41): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0173 | 1 | 372 | 0.0027 | -48 | c.455 others(65): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 667095 | AGATGGAG others(41): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0062 | 1 | 344 | 0.0029 | -48 | c.455 others(65): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 667505 | TGATGGTG others(41): Show |
T | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196 | 1 | 449 | 0.0022 | -48 | c.455 others(65): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
U2SURP_chr3_142996570_143065725 | 143047002 | CCCCCCCA others(41): Show |
C | intron_variant | MODIFIER | HG02273.hp1 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 a0001c0001t0001g0221 |
2 | 376 | 0.0053 | -48 | c.254 others(67): Show |
U2SURP | ENSG00000163714.18 | transcript | ENST00000473835.7 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UBE2D2_chr5_139556339_139633434 | 139625172 | CCCAGCCT others(41): Show |
C | intron_variant | MODIFIER | NA18973.hp1 NA18981.hp1 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0078 |
3 | 193 | 0.0155 | -48 | c.399 others(65): Show |
UBE2D2 | ENSG00000131508.17 | transcript | ENST00000398733.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
UBE2QL1_chr5_6443859_6501723 | 6447398 | ACACACAC others(41): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01099.hp2 HG01106.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0124 others(38): Show |
46 | 256 | 0.1797 | -48 | c.-14 others(59): Show |
UBE2QL1 | ENSG00000215218.4 | transcript | ENST00000399816.4 | protein_coding | 1460 | chr5 | TogoVar | |||||||
UBE4A_chr11_118354600_118404211 | 118355532 | TATATACA others(41): Show |
T | upstream_gene_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 276 | 0.0036 | -48 | c.-41 others(59): Show |
UBE4A | ENSG00000110344.10 | transcript | ENST00000252108.8 | protein_coding | 4067 | chr11 | TogoVar | |||||||
UBL3_chr13_29759371_29855617 | 29835077 | TATATAAA others(41): Show |
T | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0339 | 1 | 390 | 0.0026 | -48 | c.27+ others(65): Show |
UBL3 | ENSG00000122042.10 | transcript | ENST00000380680.5 | protein_coding | 1/4 | chr13 | TogoVar | |||||||
UBP1_chr3_33383336_33445405 | 33444223 | TGTATCTG others(41): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(344): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0019 others(303): Show |
347 | 350 | 0.9914 | -48 | c.-44 others(59): Show |
UBP1 | ENSG00000153560.12 | transcript | ENST00000283629.8 | protein_coding | 3819 | chr3 | TogoVar | |||||||
UBXN11_chr1_26277282_26311636 | 26282320 | TCCAGGAC others(41): Show |
T | disruptive_inframe_deletion | MODERATE | HG02572.hp2 HG02809.hp1 HG03486.hp2 |
a0010a0017 | a0010c0013a0017c0026 | a0010c0013t0001a0017c0026t0001 | a0010c0013t0001g0103 a0010c0013t0001g0104 a0017c0026t0001g0222 |
3 | 231 | 0.0130 | -48 | c.149 others(57): Show |
p.Pro others(13): Show |
UBXN11 | ENSG00000158062.21 | transcript | ENST00000374222.6 | protein_coding | 15/15 | 1621/1660 | 1494/1563 | 498/520 | chr1 | TogoVar | |||
UGT1A3_chr2_233724042_233778300 | 233725213 | GGCAGAGG others(41): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp1 | a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0210 | 1 | 338 | 0.0030 | -48 | c.-39 others(59): Show |
UGT1A3 | ENSG00000288702.1 | transcript | ENST00000482026.6 | protein_coding | 3828 | chr2 | TogoVar | |||||||
UGT1A4_chr2_233713736_233778300 | 233725213 | GGCAGAGG others(41): Show |
G | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0104 | 1 | 319 | 0.0031 | -48 | c.867 others(65): Show |
UGT1A4 | ENSG00000244474.6 | transcript | ENST00000373409.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A5_chr2_233707907_233778300 | 233725213 | GGCAGAGG others(41): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0168 | 1 | 318 | 0.0031 | -48 | c.867 others(67): Show |
UGT1A5 | ENSG00000288705.1 | transcript | ENST00000373414.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A6_chr2_233687890_233778300 | 233725213 | GGCAGAGG others(41): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0242 | 1 | 320 | 0.0031 | -48 | c.861 others(67): Show |
UGT1A6 | ENSG00000167165.19 | transcript | ENST00000305139.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A7_chr2_233676901_233778300 | 233725213 | GGCAGAGG others(41): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0276 | 1 | 308 | 0.0032 | -48 | c.856 others(67): Show |
UGT1A7 | ENSG00000244122.3 | transcript | ENST00000373426.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131919723 | GGCCCAGT others(41): Show |
G | intron_variant | MODIFIER | HG01928.hp1 HG01978.hp2 HG02056.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 |
3 | 342 | 0.0088 | -48 | c.280 others(65): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7673310 | TAGCAGCA others(41): Show |
T | 5_prime_UTR_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0130 | 1 | 40 | 0.0250 | -48 | c.-48 others(54): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/4 | 1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
UPK1B_chr3_119168598_119210143 | 119195970 | CATCTGTT others(41): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(60): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(51): Show |
63 | 420 | 0.1500 | -48 | c.648 others(65): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
URAD_chr13_27972717_27993693 | 27991277 | ATATGTAT others(41): Show |
A | upstream_gene_variant | MODIFIER | HG02015.hp2 HG02083.hp2 HG02165.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(2): Show |
10 | 426 | 0.0235 | -48 | c.-26 others(59): Show |
URAD | ENSG00000183463.7 | transcript | ENST00000332715.6 | protein_coding | 2585 | chr13 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216377779 | AAAAGAAA others(41): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01081.hp2 others(5): Show |
a0001a0008a0016others(4): Show | a0001c0001a0008c0037a0016c0041others(4): Show | a0001c0001t0002a0008c0037t0001a0016c0041t0004others(4): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0008c0037t0001g0033 others(5): Show |
8 | 55 | 0.1455 | -48 | c.652 others(67): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 3/71 | chr1 | TogoVar | |||||||
USP13_chr3_179648040_179794401 | 179672512 | ATAGCTGG others(41): Show |
A | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0099 | 1 | 298 | 0.0034 | -48 | c.169 others(65): Show |
USP13 | ENSG00000058056.10 | transcript | ENST00000263966.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
USP22_chr17_20994596_21048011 | 21031494 | CTCTCTAC others(41): Show |
C | intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 354 | 0.0028 | -48 | c.172 others(65): Show |
USP22 | ENSG00000124422.12 | transcript | ENST00000261497.9 | protein_coding | 1/12 | chr17 | TogoVar | |||||||
USP22_chr17_20994596_21048011 | 21031518 | ATGCTACA others(41): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG02055.hp2 HG02572.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0023a0001c0002t0046 | a0001c0002t0010g0010 a0001c0002t0010g0295 a0001c0002t0010g0299 others(4): Show |
8 | 354 | 0.0226 | -48 | c.172 others(65): Show |
USP22 | ENSG00000124422.12 | transcript | ENST00000261497.9 | protein_coding | 1/12 | chr17 | TogoVar | |||||||
USP22_chr17_20994596_21048011 | 21031542 | ATCTCTAC others(41): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(225): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0301 others(222): Show |
228 | 354 | 0.6441 | -48 | c.172 others(65): Show |
USP22 | ENSG00000124422.12 | transcript | ENST00000261497.9 | protein_coding | 1/12 | chr17 | TogoVar | |||||||
UVSSA_chr4_1342208_1393049 | 1374028 | TGTGGATT others(41): Show |
T | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0066 | 1 | 398 | 0.0025 | -48 | c.128 others(67): Show |
UVSSA | ENSG00000163945.19 | transcript | ENST00000389851.10 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
VAC14_chr16_70682439_70806158 | 70783172 | AGGGTCAG others(41): Show |
A | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 320 | 0.0031 | -48 | c.705 others(61): Show |
VAC14 | ENSG00000103043.15 | transcript | ENST00000261776.10 | protein_coding | 6/18 | chr16 | TogoVar | |||||||
VAPB_chr20_58384229_58456101 | 58414149 | GGACGGGG others(41): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(76): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(6): Show | a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0035 others(74): Show |
79 | 368 | 0.2147 | -48 | c.59- others(63): Show |
VAPB | ENSG00000124164.16 | transcript | ENST00000475243.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
VAV2_chr9_133756894_133997324 | 133827250 | CGGGGGCA others(41): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0094 | 1 | 180 | 0.0056 | -48 | c.449 others(65): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | |||||||
VAV2_chr9_133756894_133997324 | 133827269 | CGCTGCGC others(41): Show |
C | intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0070 | 1 | 168 | 0.0060 | -48 | c.449 others(65): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | |||||||
VAV2_chr9_133756894_133997324 | 133827298 | TGGGGGCA others(41): Show |
T | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0007 | a0001c0007t0027 | a0001c0007t0027g0092 | 1 | 141 | 0.0071 | -48 | c.449 others(65): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | |||||||
VAV2_chr9_133756894_133997324 | 133827312 | GCTACTGC others(41): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG04184.hp1 |
a0001a0002 | a0001c0004a0002c0029 | a0001c0004t0001a0002c0029t0026 | a0001c0004t0001g0180 a0002c0029t0026g0161 |
2 | 185 | 0.0108 | -48 | c.449 others(65): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar |