regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADARB2_chr10_1172313_1742525 | 1592970 | A | ATAGGTCT others(1193): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02257.hp1 HG02717.hp1 |
a0001a0004a0010 | a0001c0001a0004c0005a0010c0009 | a0001c0001t0052a0004c0005t0037a0010c0009t0024 | a0001c0001t0052g0062a0004c0005t0037g0064a0010c0009t0024g0016 | 3 | 106 | 0.0283 | 1200 | c.100 others(1221): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1592970 | A | ATAGGTCT others(1193): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0026 | 1 | 106 | 0.0094 | 1200 | c.100 others(1221): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7863999 | C | CTTCCCAA others(1193): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01099.hp2 HG01106.hp2 others(16): Show |
a0001a0002a0003 | a0001c0015a0001c0022a0001c0023others(6): Show | a0001c0015t0006a0001c0015t0037a0001c0022t0024others(10): Show | a0001c0015t0006g0139a0001c0015t0037g0050a0001c0022t0024g0135others(16): Show | 19 | 318 | 0.0598 | 1200 | c.225 others(1217): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7863999 | C | CTTCCCAA others(1193): Show |
intron_variant | MODIFIER | HG01168.hp1 HG04115.hp2 NA20805.hp1 |
a0002 | a0002c0008 | a0002c0008t0004 | a0002c0008t0004g0146a0002c0008t0004g0151a0002c0008t0004g0152 | 3 | 318 | 0.0094 | 1200 | c.225 others(1217): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7863999 | C | CTTCCCAA others(1193): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0003 | a0003c0006 | a0003c0006t0005 | a0003c0006t0005g0145 | 1 | 318 | 0.0031 | 1200 | c.225 others(1217): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7863999 | C | CTTCCCAA others(1193): Show |
intron_variant | MODIFIER | HG00140.hp2 NA20905.hp1 |
a0002 | a0002c0008 | a0002c0008t0031 | a0002c0008t0031g0288a0002c0008t0031g0289 | 2 | 318 | 0.0063 | 1200 | c.225 others(1217): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7864045 | C | CCATTCCC others(1193): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0003 | a0003c0006 | a0003c0006t0005 | a0003c0006t0005g0078 | 1 | 318 | 0.0031 | 1200 | c.225 others(1217): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25757982 | G | GACCACCT others(1193): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0009 | a0009c0045 | a0009c0045t0001 | a0009c0045t0001g0049 | 1 | 300 | 0.0033 | 1200 | c.655 others(1219): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835508 | G | GTCCAGGC others(1193): Show |
downstream_gene_variant | MODIFIER | NA18983.hp2 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 391 | 0.0051 | 1200 | c.*36 others(1211): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3491 | chr19 | TogoVar | ||||||
BAIAP2L2_chr22_38079900_38115684 | 38110050 | A | AGAGACAC others(1193): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 18 | 0.0556 | 1200 | c.51+ others(1213): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1193): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0253 | 1 | 376 | 0.0027 | 1200 | c.63+ others(1213): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(1193): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0009 | 1 | 320 | 0.0031 | 1200 | c.380 others(1217): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45500923 | T | TTGGGTGT others(1193): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0027 | a0027c0070 | a0027c0070t0001 | a0027c0070t0001g0012 | 1 | 292 | 0.0034 | 1200 | c.268 others(1219): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | chr21 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178525130 | A | AGGACCCG others(1193): Show |
intron_variant | MODIFIER | HG00423.hp2 NA18943.hp1 NA18943.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0004a0002c0003t0002 | a0001c0001t0002g0048a0001c0001t0002g0058a0001c0001t0004g0081others(1): Show | 4 | 236 | 0.0170 | 1200 | c.361 others(1219): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
CYLC1_chrX_83856146_83891698 | 83878202 | A | AATATATA others(1193): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 208 | 0.0048 | 1200 | c.192 others(1219): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CYLC1_chrX_83856146_83891698 | 83878202 | A | AATATATA others(1193): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 208 | 0.0048 | 1200 | c.192 others(1219): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CYP4F11_chr19_15907377_15939529 | 15933225 | G | GAGAGGAA others(1193): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0021 | a0002c0021t0055 | a0002c0021t0055g0330 | 1 | 386 | 0.0026 | 1200 | c.198 others(1215): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933423 | A | AGGAGAGG others(1193): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0041 | 1 | 386 | 0.0026 | 1200 | c.198 others(1215): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15934041 | C | CGGGGAGA others(1193): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0004 | a0001c0004t0079 | a0001c0004t0079g0018 | 1 | 386 | 0.0026 | 1200 | c.198 others(1215): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251168 | C | CCAACACC others(1193): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0063 | 1 | 116 | 0.0086 | 1200 | c.207 others(1219): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DIP2C_chr10_269201_694668 | 323304 | A | AGTGAGAG others(1193): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 88 | 0.0114 | 1200 | c.392 others(1219): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99928008 | G | GTGATGGT others(1193): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0097 | 1 | 288 | 0.0035 | 1200 | c.190 others(1219): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(1193): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 NA18906.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0016a0002c0003t0001g0045 | 2 | 395 | 0.0051 | 1200 | c.*69 others(1211): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152796 | T | TCCACCAC others(1193): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 274 | 0.0037 | 1200 | c.804 others(1217): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(1193): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0005 | a0005c0013 | a0005c0013t0025 | a0005c0013t0025g0115 | 1 | 282 | 0.0036 | 1200 | c.623 others(1217): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LBP_chr20_38341482_38382013 | 38356155 | A | ACCACACC others(1193): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 394 | 0.0025 | 1200 | c.588 others(1215): Show |
LBP | ENSG00000129988.6 | transcript | ENST00000217407.3 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
LRP8_chr1_53237364_53333070 | 53284196 | T | TACTTACC others(1193): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0171 | 1 | 296 | 0.0034 | 1200 | c.368 others(1217): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTGCCC others(1193): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0110 | 1 | 194 | 0.0052 | 1200 | c.-12 others(1219): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MUC4_chr3_195741771_195816929 | 195783744 | G | GGTGACAG others(1193): Show |
disruptive_inframe_insertion | MODERATE | HG03130.hp2 | a0067 | a0067c0194 | a0067c0194t0012 | a0067c0194t0012g0239 | 1 | 249 | 0.0040 | 1200 | c.783 others(1209): Show |
p.Thr others(1215): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7947/16756 | 7835/16239 | 2612/5412 | chr3 | TogoVar | ||
NFATC1_chr18_79390930_79534323 | 79532188 | T | TCGGCAGA others(1193): Show |
downstream_gene_variant | MODIFIER | NA19079.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0217 | 1 | 322 | 0.0031 | 1200 | c.*46 others(1211): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2866 | chr18 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(1193): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0134 | 1 | 208 | 0.0048 | 1200 | c.279 others(1215): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1193): Show |
downstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 456 | 0.0022 | 1200 | c.*31 others(1211): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGAGGGG others(1193): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02055.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0207a0001c0001t0001g0208a0001c0004t0001g0320 | 3 | 326 | 0.0092 | 1200 | c.162 others(1219): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | ||||||
OSTF1_chr9_75083514_75152265 | 75139050 | C | CTTTTCTT others(1193): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0283 | 1 | 366 | 0.0027 | 1200 | c.487 others(1217): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(1193): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049a0001c0001t0001g0222 | 2 | 367 | 0.0055 | 1200 | c.4-1 others(1213): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(1193): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0021 | a0002c0021t0007 | a0002c0021t0007g0290 | 1 | 322 | 0.0031 | 1200 | c.*48 others(1211): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | ||||||
PLA2G6_chr22_38106495_38186830 | 38110050 | A | AGAGACAC others(1193): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 10 | 0.1000 | 1200 | c.*21 others(1211): Show |
PLA2G6 | ENSG00000184381.20 | transcript | ENST00000332509.8 | protein_coding | 1444 | chr22 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150197799 | G | GGCTTTGT others(1193): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0229 | 1 | 312 | 0.0032 | 1200 | c.307 others(1219): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPP1R14C_chr6_150138044_150255392 | 150197799 | G | GGCTTTGT others(1193): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00733.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0049a0001c0001t0001g0054a0001c0001t0002g0034others(21): Show | 24 | 312 | 0.0769 | 1200 | c.307 others(1219): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPP1R14C_chr6_150138044_150255392 | 150197799 | G | GGCTTTGT others(1193): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0186 | 1 | 312 | 0.0032 | 1200 | c.307 others(1219): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
RASA3_chr13_113972783_114137623 | 114080978 | G | GAGTGCCC others(1193): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0066 | 1 | 67 | 0.0149 | 1200 | c.56- others(1215): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114099808 | C | CCCCCACA others(1193): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 67 | 0.0149 | 1200 | c.56- others(1217): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77322942 | T | TTATATTA others(1193): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0120 | 1 | 160 | 0.0063 | 1200 | c.389 others(1221): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SMYD3_chr1_245744347_246512279 | 245975157 | C | CAGGGAAA others(1193): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 150 | 0.0067 | 1200 | c.532 others(1219): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852566 | C | CCACCCCC others(1193): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0332 | 1 | 356 | 0.0028 | 1200 | c.646 others(1217): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SPIRE2_chr16_89823475_89876319 | 89852705 | T | TCCATCTT others(1193): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0330a0001c0001t0003g0339 | 2 | 356 | 0.0056 | 1200 | c.646 others(1217): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TRIM58_chr1_247852187_247885138 | 247870492 | A | ACCCAGAA others(1193): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0250 | 1 | 454 | 0.0022 | 1200 | c.871 others(1217): Show |
TRIM58 | ENSG00000162722.9 | transcript | ENST00000366481.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TRIM58_chr1_247852187_247885138 | 247870492 | A | ACCCAGAA others(1193): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0007 | a0002c0007t0019 | a0002c0007t0019g0289 | 1 | 454 | 0.0022 | 1200 | c.871 others(1217): Show |
TRIM58 | ENSG00000162722.9 | transcript | ENST00000366481.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TRIM58_chr1_247852187_247885138 | 247870492 | A | ACCCAGAA others(1193): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02809.hp2 NA19030.hp1 |
a0002 | a0002c0007 | a0002c0007t0019 | a0002c0007t0019g0025 | 3 | 454 | 0.0066 | 1200 | c.871 others(1217): Show |
TRIM58 | ENSG00000162722.9 | transcript | ENST00000366481.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
VAV2_chr9_133756894_133997324 | 133828128 | C | CCTACCGC others(1193): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0181 | 1 | 200 | 0.0050 | 1200 | c.449 others(1217): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar |