Tag | Content |
---|---|
Uniprot ID | Q96Q89; A8MXM7; O43277; Q09471; Q2KQ73; Q32NE1; Q561V3; Q58EX8; Q5T9M8; Q5T9M9; Q5T9N0; Q5T9N1; Q7KZ68; Q7Z5E0; Q7Z5E1; Q7Z6M9; Q86X82; Q9H3R8; Q9H6Q9; Q9H755; Q9NTC1; Q9UFR5; |
Entrez ID | 9585 |
Genbank protein ID | BAB15194.1; BAB20417.1; AAH46134.1; BAB15043.1; AAC37542.1; AAP40331.1; AAI08689.1; BAB69456.1; AAP40330.1; AAB88727.1; AAW65984.1; AAH93089.1; CAB70720.1; AAH58913.1; CAB55962.1; |
Genbank nucleotide ID | NM_016195.3; NM_001284259.1; |
Ensembl protein ID | ENSP00000260753; ENSP00000360793; |
Ensembl nucleotide ID | ENSG00000138182 |
Gene name | Kinesin-like protein KIF20B |
Gene symbol | KIF20B |
Organism | Homo sapiens |
NCBI taxa ID | 9606 |
Cleft type | |
Developmental stage | |
Data sources | Homology search |
Reference | |
Functional description | Plus-end-directed motor enzyme that is required for completion of cytokinesis (PubMed:11470801, PubMed:12740395). Required for proper midbody organization and abscission in polarized cortical stem cells. Plays a role in the regulation of neuronal polarization by mediating the transport of specific cargos. Participates in the mobilization of SHTN1 and in the accumulation of PIP3 in the growth cone of primary hippocampal neurons in a tubulin and actin-dependent manner. In the developing telencephalon, cooperates with SHTN1 to promote both the transition from the multipolar to the bipolar stage and the radial migration of cortical neurons from the ventricular zone toward the superficial layer of the neocortex. Involved in cerebral cortex growth (By similarity). Acts as an oncogene for promoting bladder cancer cells proliferation, apoptosis inhibition and carcinogenic progression (PubMed:17409436). |
Sequence | MESNFNQEGV PRPSYVFSAD PIARPSEINF DGIKLDLSHE FSLVAPNTEA NSFESKDYLQ 60 VCLRIRPFTQ SEKELESEGC VHILDSQTVV LKEPQCILGR LSEKSSGQMA QKFSFSKVFG 120 PATTQKEFFQ GCIMQPVKDL LKGQSRLIFT YGLTNSGKTY TFQGTEENIG ILPRTLNVLF 180 DSLQERLYTK MNLKPHRSRE YLRLSSEQEK EEIASKSALL RQIKEVTVHN DSDDTLYGSL 240 TNSLNISEFE ESIKDYEQAN LNMANSIKFS VWVSFFEIYN EYIYDLFVPV SSKFQKRKML 300 RLSQDVKGYS FIKDLQWIQV SDSKEAYRLL KLGIKHQSVA FTKLNNASSR SHSIFTVKIL 360 QIEDSEMSRV IRVSELSLCD LAGSERTMKT QNEGERLRET GNINTSLLTL GKCINVLKNS 420 EKSKFQQHVP FRESKLTHYF QSFFNGKGKI CMIVNISQCY LAYDETLNVL KFSAIAQKVC 480 VPDTLNSSQE KLFGPVKSSQ DVSLDSNSNS KILNVKRATI SWENSLEDLM EDEDLVEELE 540 NAEETQNVET KLLDEDLDKT LEENKAFISH EEKRKLLDLI EDLKKKLINE KKEKLTLEFK 600 IREEVTQEFT QYWAQREADF KETLLQEREI LEENAERRLA IFKDLVGKCD TREEAAKDIC 660 ATKVETEETH NYVGFEDIID SLQDNVADIK KQAEIAHLYI ASLPDPQEAT ACLELKFNQI 720 KAELAKTKGE LIKTKEELKK RENESDSLIQ ELETSNKKII TQNQRIKELI NIIDQKEDTI 780 NEFQNLKSHM ENTFKCNDKA DTSSLIINNK LICNETVEVP KDSKSKICSE RKRVNENELQ 840 QDEPPAKKGS IHVSSAITED QKKSEEVRPN IAEIEDIRVL QENNEGLRAF LLTIENELKN 900 EKEEKAELNK QIVHFQQELS LSEKKNLTLS KEVQQIQSNY DIAIAELHVQ KSKNQEQEEK 960 IMKLSNEIET ATRSITNNVS QIKLMHTKID ELRTLDSVSQ ISNIDLLNLR DLSNGSEEDN 1020 LPNTQLDLLG NDYLVSKQVK EYRIQEPNRE NSFHSSIEAI WEECKEIVKA SSKKSHQIEE 1080 LEQQIEKLQA EVKGYKDENN RLKEKEHKNQ DDLLKEKETL IQQLKEELQE KNVTLDVQIQ 1140 HVVEGKRALS ELTQGVTCYK AKIKELETIL ETQKVECSHS AKLEQDILEK ESIILKLERN 1200 LKEFQEHLQD SVKNTKDLNV KELKLKEEIT QLTNNLQDMK HLLQLKEEEE ETNRQETEKL 1260 KEELSASSAR TQNLKADLQR KEEDYADLKE KLTDAKKQIK QVQKEVSVMR DEDKLLRIKI 1320 NELEKKKNQC SQELDMKQRT IQQLKEQLNN QKVEEAIQQY ERACKDLNVK EKIIEDMRMT 1380 LEEQEQTQVE QDQVLEAKLE EVERLATELE KWKEKCNDLE TKNNQRSNKE HENNTDVLGK 1440 LTNLQDELQE SEQKYNADRK KWLEEKMMLI TQAKEAENIR NKEMKKYAED RERFFKQQNE 1500 MEILTAQLTE KDSDLQKWRE ERDQLVAALE IQLKALISSN VQKDNEIEQL KRIISETSKI 1560 ETQIMDIKPK RISSADPDKL QTEPLSTSFE ISRNKIEDGS VVLDSCEVST ENDQSTRFPK 1620 PELEIQFTPL QPNKMAVKHP GCTTPVTVKI PKARKRKSNE MEEDLVKCEN KKNATPRTNL 1680 KFPISDDRNS SVKKEQKVAI RPSSKKTYSL RSQASIIGVN LATKKKEGTL QKFGDFLQHS 1740 PSILQSKAKK IIETMSSSKL SNVEASKENV SQPKRAKRKL YTSEISSPID ISGQVILMDQ 1800 KMKESDHQII KRRLRTKTAK |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
---|---|---|---|---|---|---|---|---|
1:1 ortholog | KIF20B | A0A452EC51 | Capra hircus | Prediction | More>> | |||
1:1 ortholog | KIF20B | 9585 | Q96Q89 | Homo sapiens | Prediction | More>> | ||
1:1 ortholog | Kif20b | 240641 | Q80WE4 | CPO | Mus musculus | Publication | More>> | |
1:1 ortholog | KIF20B | 450592 | H2R321 | Pan troglodytes | Prediction | More>> | ||
1:1 ortholog | 100155885 | A0A480ZX77 | Sus scrofa | Prediction | More>> | |||
1:1 ortholog | KIF20B | 100339334 | G1SHM7 | Oryctolagus cuniculus | Prediction | More>> | ||
1:1 ortholog | Kif20b | 309523 | D3ZX13 | Rattus norvegicus | Prediction | More>> |
ID | Variant | Type | Disease | Chromosome\Coordinate | Evidence |
---|---|---|---|---|---|
rs371111411 | p.Glu2Asp | missense variant | - | NC_000010.11:g.89705300A>C | ESP,TOPMed |
NCI-TCGA novel | p.Glu2Lys | missense variant | - | NC_000010.11:g.89705298G>A | NCI-TCGA |
NCI-TCGA novel | p.Ser3Cys | missense variant | - | NC_000010.11:g.89705302C>G | NCI-TCGA |
rs768060728 | p.Asn6Asp | missense variant | - | NC_000010.11:g.89705310A>G | ExAC,TOPMed,gnomAD |
rs776275732 | p.Gln7Lys | missense variant | - | NC_000010.11:g.89705313C>A | ExAC,gnomAD |
rs1401157152 | p.Gly9Glu | missense variant | - | NC_000010.11:g.89705320G>A | TOPMed |
rs531008769 | p.Pro11Ser | missense variant | - | NC_000010.11:g.89705325C>T | gnomAD |
rs761585032 | p.Arg12Gln | missense variant | - | NC_000010.11:g.89705329G>A | ExAC,TOPMed,gnomAD |
rs761585032 | p.Arg12Gln | missense variant | - | NC_000010.11:g.89705329G>A | NCI-TCGA,NCI-TCGA Cosmic |
rs114316057 | p.Tyr15Ter | stop gained | - | NC_000010.11:g.89705339T>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1437025874 | p.Tyr15His | missense variant | - | NC_000010.11:g.89705337T>C | TOPMed |
NCI-TCGA novel | p.Tyr15Asp | missense variant | - | NC_000010.11:g.89705337T>G | NCI-TCGA |
NCI-TCGA novel | p.Val16Gly | missense variant | - | NC_000010.11:g.89705341T>G | NCI-TCGA |
rs1167628361 | p.Phe17Ser | missense variant | - | NC_000010.11:g.89705344T>C | TOPMed |
rs774900148 | p.Ala19Val | missense variant | - | NC_000010.11:g.89705350C>T | ExAC,gnomAD |
rs1335039056 | p.Asp20Val | missense variant | - | NC_000010.11:g.89705353A>T | gnomAD |
rs1360995928 | p.Ile22Asn | missense variant | - | NC_000010.11:g.89705359T>A | gnomAD |
COSM3441422 | p.Ile22Met | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89705360T>G | NCI-TCGA Cosmic |
rs143432523 | p.Ala23Ser | missense variant | - | NC_000010.11:g.89705361G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs143432523 | p.Ala23Thr | missense variant | - | NC_000010.11:g.89705361G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Arg24Gly | missense variant | - | NC_000010.11:g.89705364A>G | NCI-TCGA |
NCI-TCGA novel | p.Glu27Ter | stop gained | - | NC_000010.11:g.89705373G>T | NCI-TCGA |
rs753159710 | p.Glu27Asp | missense variant | - | NC_000010.11:g.89705375A>T | ExAC,gnomAD |
rs370731821 | p.Asp31His | missense variant | - | NC_000010.11:g.89705385G>C | ESP,ExAC,TOPMed,gnomAD |
rs1194896120 | p.Asp31Gly | missense variant | - | NC_000010.11:g.89705386A>G | gnomAD |
rs370731821 | p.Asp31Asn | missense variant | - | NC_000010.11:g.89705385G>A | ESP,ExAC,TOPMed,gnomAD |
rs757522974 | p.Ile33Val | missense variant | - | NC_000010.11:g.89705391A>G | ExAC,gnomAD |
rs374375791 | p.Lys34Asn | missense variant | - | NC_000010.11:g.89705396G>C | ESP |
rs764984414 | p.Asp36Gly | missense variant | - | NC_000010.11:g.89705401A>G | ExAC,gnomAD |
rs1443767282 | p.Asp36Tyr | missense variant | - | NC_000010.11:g.89705400G>T | gnomAD |
rs148065279 | p.His39Arg | missense variant | - | NC_000010.11:g.89705410A>G | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.His39Gln | missense variant | - | NC_000010.11:g.89705411T>G | NCI-TCGA |
rs779980736 | p.Glu40Lys | missense variant | - | NC_000010.11:g.89705412G>A | ExAC,gnomAD |
rs879431020 | p.Ser42Cys | missense variant | - | NC_000010.11:g.89705419C>G | TOPMed |
COSM1968821 | p.Ser42Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89705419C>T | NCI-TCGA Cosmic |
rs1475266085 | p.Ser42Ala | missense variant | - | NC_000010.11:g.89705418T>G | gnomAD |
rs368331856 | p.Val44Phe | missense variant | - | NC_000010.11:g.89705424G>T | ESP,ExAC,TOPMed,gnomAD |
rs1427592434 | p.Ala45Thr | missense variant | - | NC_000010.11:g.89705427G>A | gnomAD |
rs780902590 | p.Pro46Ser | missense variant | - | NC_000010.11:g.89705430C>T | ExAC,gnomAD |
rs780902590 | p.Pro46Ser | missense variant | - | NC_000010.11:g.89705430C>T | NCI-TCGA |
rs1129777 | p.Ala50Gly | missense variant | - | NC_000010.11:g.89709168C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1129777 | p.Ala50Gly | missense variant | - | NC_000010.11:g.89709168C>G | UniProt,dbSNP |
VAR_030181 | p.Ala50Gly | missense variant | - | NC_000010.11:g.89709168C>G | UniProt |
rs1381027300 | p.Ala50Ser | missense variant | - | NC_000010.11:g.89709167G>T | gnomAD |
rs1056194785 | p.Asn51Ser | missense variant | - | NC_000010.11:g.89709171A>G | TOPMed |
rs1156898393 | p.Asn51Tyr | missense variant | - | NC_000010.11:g.89709170A>T | gnomAD |
rs1156898393 | p.Asn51Asp | missense variant | - | NC_000010.11:g.89709170A>G | gnomAD |
rs778521871 | p.Phe53Leu | missense variant | - | NC_000010.11:g.89709178C>A | TOPMed,gnomAD |
rs1323971498 | p.Glu54Lys | missense variant | - | NC_000010.11:g.89709179G>A | gnomAD |
rs947679379 | p.Glu54Val | missense variant | - | NC_000010.11:g.89709180A>T | - |
rs1323971498 | p.Glu54Lys | missense variant | - | NC_000010.11:g.89709179G>A | NCI-TCGA Cosmic |
rs947679379 | p.Glu54Val | missense variant | - | NC_000010.11:g.89709180A>T | NCI-TCGA Cosmic |
rs1332545576 | p.Ser55Cys | missense variant | - | NC_000010.11:g.89709183C>G | gnomAD |
rs758141800 | p.Lys56Glu | missense variant | - | NC_000010.11:g.89709185A>G | ExAC,gnomAD |
COSM921299 | p.Lys56Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89709187A>C | NCI-TCGA Cosmic |
rs766114784 | p.Asp57Gly | missense variant | - | NC_000010.11:g.89709189A>G | ExAC,TOPMed |
rs367726513 | p.Tyr58His | missense variant | - | NC_000010.11:g.89709191T>C | ESP,ExAC,TOPMed,gnomAD |
rs1160673754 | p.Leu59Arg | missense variant | - | NC_000010.11:g.89709195T>G | gnomAD |
rs375851858 | p.Gln60Pro | missense variant | - | NC_000010.11:g.89709198A>C | ESP,ExAC,TOPMed,gnomAD |
rs201280490 | p.Arg64Gln | missense variant | - | NC_000010.11:g.89709210G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs201280490 | p.Arg64Gln | missense variant | - | NC_000010.11:g.89709210G>A | NCI-TCGA |
rs1283252329 | p.Pro67Ala | missense variant | - | NC_000010.11:g.89709218C>G | gnomAD |
rs747721266 | p.Glu72Gln | missense variant | - | NC_000010.11:g.89709233G>C | ExAC,gnomAD |
COSM5476965 | p.Glu74Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000010.11:g.89709239G>T | NCI-TCGA Cosmic |
rs755701011 | p.Leu75Pro | missense variant | - | NC_000010.11:g.89709243T>C | ExAC,gnomAD |
rs777502341 | p.Glu76Lys | missense variant | - | NC_000010.11:g.89709245G>A | ExAC,gnomAD |
rs140554027 | p.Ser77Pro | missense variant | - | NC_000010.11:g.89709248T>C | ESP,ExAC,TOPMed,gnomAD |
rs1279975424 | p.Gly79Asp | missense variant | - | NC_000010.11:g.89709346G>A | TOPMed,gnomAD |
rs755646052 | p.Cys80Tyr | missense variant | - | NC_000010.11:g.89709349G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Val81Ala | missense variant | - | NC_000010.11:g.89709352T>C | NCI-TCGA |
rs369439648 | p.His82Arg | missense variant | - | NC_000010.11:g.89709355A>G | ESP,TOPMed,gnomAD |
rs1395185860 | p.His82Asp | missense variant | - | NC_000010.11:g.89709354C>G | gnomAD |
rs369439648 | p.His82Pro | missense variant | - | NC_000010.11:g.89709355A>C | ESP,TOPMed,gnomAD |
rs1314221873 | p.Gln87His | missense variant | - | NC_000010.11:g.89709371G>C | TOPMed,gnomAD |
rs1279246917 | p.Val89Ile | missense variant | - | NC_000010.11:g.89709375G>A | gnomAD |
rs758962805 | p.Leu91Val | missense variant | - | NC_000010.11:g.89709381C>G | TOPMed,gnomAD |
rs201328071 | p.Leu91Pro | missense variant | - | NC_000010.11:g.89709382T>C | ExAC,TOPMed,gnomAD |
rs756898969 | p.Lys92Arg | missense variant | - | NC_000010.11:g.89709385A>G | ExAC,gnomAD |
rs200362702 | p.Glu93Gly | missense variant | - | NC_000010.11:g.89709388A>G | ExAC,TOPMed,gnomAD |
rs1484655439 | p.Gln95Ter | stop gained | - | NC_000010.11:g.89709393C>T | gnomAD |
rs1484655439 | p.Gln95Ter | stop gained | - | NC_000010.11:g.89709393C>T | NCI-TCGA Cosmic |
rs748681486 | p.Cys96Arg | missense variant | - | NC_000010.11:g.89709396T>C | ExAC,TOPMed,gnomAD |
rs199632456 | p.Ile97Val | missense variant | - | NC_000010.11:g.89709399A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs773209778 | p.Arg100Trp | missense variant | - | NC_000010.11:g.89709408C>T | ExAC,TOPMed,gnomAD |
rs773209778 | p.Arg100Trp | missense variant | - | NC_000010.11:g.89709408C>T | NCI-TCGA,NCI-TCGA Cosmic |
rs763235804 | p.Arg100Leu | missense variant | - | NC_000010.11:g.89709409G>T | ExAC,gnomAD |
NCI-TCGA novel | p.Arg100Gln | missense variant | - | NC_000010.11:g.89709409G>A | NCI-TCGA |
rs1018194599 | p.Ser102Gly | missense variant | - | NC_000010.11:g.89709414A>G | TOPMed,gnomAD |
rs1018194599 | p.Ser102Arg | missense variant | - | NC_000010.11:g.89709414A>C | TOPMed,gnomAD |
rs774649782 | p.Ser105Gly | missense variant | - | NC_000010.11:g.89709423A>G | ExAC,gnomAD |
rs1299300012 | p.Ser105Asn | missense variant | - | NC_000010.11:g.89709424G>A | gnomAD |
rs1213226504 | p.Ser106Pro | missense variant | - | NC_000010.11:g.89709426T>C | gnomAD |
rs759189061 | p.Ser106Leu | missense variant | - | NC_000010.11:g.89709427C>T | ExAC,TOPMed,gnomAD |
rs1436625710 | p.Gly107Val | missense variant | - | NC_000010.11:g.89709430G>T | gnomAD |
rs1313070240 | p.Met109Thr | missense variant | - | NC_000010.11:g.89709436T>C | gnomAD |
rs767453897 | p.Ala110Thr | missense variant | - | NC_000010.11:g.89709438G>A | ExAC,gnomAD |
rs752634082 | p.Gln111Lys | missense variant | - | NC_000010.11:g.89709441C>A | ExAC,gnomAD |
COSM921302 | p.Lys112Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89709444A>C | NCI-TCGA Cosmic |
rs1210117148 | p.Phe115Leu | missense variant | - | NC_000010.11:g.89709453T>C | gnomAD |
rs376346565 | p.Ser116Phe | missense variant | - | NC_000010.11:g.89709457C>T | ESP,ExAC,gnomAD |
rs376346565 | p.Ser116Tyr | missense variant | - | NC_000010.11:g.89709457C>A | ESP,ExAC,gnomAD |
rs756920160 | p.Lys117Thr | missense variant | - | NC_000010.11:g.89709460A>C | ExAC,gnomAD |
rs1038163377 | p.Lys117Glu | missense variant | - | NC_000010.11:g.89709459A>G | TOPMed,gnomAD |
rs1038163377 | p.Lys117Gln | missense variant | - | NC_000010.11:g.89709459A>C | TOPMed,gnomAD |
rs756920160 | p.Lys117Arg | missense variant | - | NC_000010.11:g.89709460A>G | ExAC,gnomAD |
COSM921303 | p.Gly120Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89709934G>A | NCI-TCGA Cosmic |
rs372714100 | p.Pro121Ser | missense variant | - | NC_000010.11:g.89709936C>T | ESP,ExAC,TOPMed,gnomAD |
rs140764762 | p.Ala122Gly | missense variant | - | NC_000010.11:g.89709940C>G | ESP,ExAC,TOPMed,gnomAD |
rs541129006 | p.Thr123Ser | missense variant | - | NC_000010.11:g.89709942A>T | 1000Genomes,ExAC,gnomAD |
rs541129006 | p.Thr123Ala | missense variant | - | NC_000010.11:g.89709942A>G | 1000Genomes,ExAC,gnomAD |
rs771970019 | p.Gln125Arg | missense variant | - | NC_000010.11:g.89709949A>G | ExAC,gnomAD |
rs1182948308 | p.Lys126Glu | missense variant | - | NC_000010.11:g.89709951A>G | TOPMed |
rs149777607 | p.Ile133Val | missense variant | - | NC_000010.11:g.89709972A>G | ESP,ExAC,TOPMed,gnomAD |
rs374626048 | p.Met134Val | missense variant | - | NC_000010.11:g.89709975A>G | ESP,ExAC,TOPMed,gnomAD |
rs769714206 | p.Gln135His | missense variant | - | NC_000010.11:g.89709980A>C | ExAC,TOPMed,gnomAD |
rs116079640 | p.Lys138Arg | missense variant | - | NC_000010.11:g.89709988A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs764831714 | p.Leu140Phe | missense variant | - | NC_000010.11:g.89709993C>T | ExAC |
rs749990301 | p.Leu140Pro | missense variant | - | NC_000010.11:g.89709994T>C | ExAC,gnomAD |
rs758091272 | p.Leu141Ter | stop gained | - | NC_000010.11:g.89709997T>A | ExAC,gnomAD |
NCI-TCGA novel | p.Leu141Phe | missense variant | - | NC_000010.11:g.89709998G>T | NCI-TCGA |
rs767867106 | p.Lys142Glu | missense variant | - | NC_000010.11:g.89709999A>G | ExAC,gnomAD |
rs190543605 | p.Gln144Arg | missense variant | - | NC_000010.11:g.89710006A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1447791865 | p.Gln144His | missense variant | - | NC_000010.11:g.89710007G>C | gnomAD |
rs778078682 | p.Ser145Asn | missense variant | - | NC_000010.11:g.89710009G>A | ExAC,gnomAD |
rs773327403 | p.Arg146His | missense variant | - | NC_000010.11:g.89710012G>A | TOPMed,gnomAD |
rs368664005 | p.Arg146Cys | missense variant | - | NC_000010.11:g.89710011C>T | ESP,ExAC,TOPMed,gnomAD |
rs368664005 | p.Arg146Cys | missense variant | - | NC_000010.11:g.89710011C>T | NCI-TCGA,NCI-TCGA Cosmic |
rs942538562 | p.Phe149Ser | missense variant | - | NC_000010.11:g.89710021T>C | TOPMed |
rs1168636776 | p.Thr150Ala | missense variant | - | NC_000010.11:g.89710023A>G | TOPMed |
rs376662889 | p.Tyr151Ter | stop gained | - | NC_000010.11:g.89710028C>G | ExAC,TOPMed,gnomAD |
rs372770283 | p.Gly152Arg | missense variant | - | NC_000010.11:g.89710029G>A | ESP,ExAC,TOPMed,gnomAD |
COSM921305 | p.Gly152Glu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89710030G>A | NCI-TCGA Cosmic |
rs372770283 | p.Gly152Arg | missense variant | - | NC_000010.11:g.89710029G>C | ESP,ExAC,TOPMed,gnomAD |
rs903288308 | p.Thr154Ser | missense variant | - | NC_000010.11:g.89710036C>G | gnomAD |
rs746740786 | p.Asn155His | missense variant | - | NC_000010.11:g.89710038A>C | ExAC,gnomAD |
COSM921306 | p.Lys158Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89710048A>C | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Thr159HisPheSerTerUnkUnk | frameshift | - | NC_000010.11:g.89710046A>- | NCI-TCGA |
rs1415218716 | p.Tyr160Cys | missense variant | - | NC_000010.11:g.89710054A>G | gnomAD |
rs776389826 | p.Thr161Ile | missense variant | - | NC_000010.11:g.89710057C>T | ExAC,gnomAD |
rs200906639 | p.Phe162Leu | missense variant | - | NC_000010.11:g.89710059T>C | 1000Genomes |
rs1400441533 | p.Gly164Glu | missense variant | - | NC_000010.11:g.89710961G>A | gnomAD |
rs1213559245 | p.Gly170Asp | missense variant | - | NC_000010.11:g.89710979G>A | gnomAD |
rs948773833 | p.Pro173Leu | missense variant | - | NC_000010.11:g.89710988C>T | TOPMed,gnomAD |
rs948773833 | p.Pro173Arg | missense variant | - | NC_000010.11:g.89710988C>G | TOPMed,gnomAD |
rs770462070 | p.Arg174Gln | missense variant | - | NC_000010.11:g.89710991G>A | ExAC,TOPMed |
rs770462070 | p.Arg174Gln | missense variant | - | NC_000010.11:g.89710991G>A | NCI-TCGA,NCI-TCGA Cosmic |
rs200997811 | p.Arg174Ter | stop gained | - | NC_000010.11:g.89710990C>T | ExAC,TOPMed,gnomAD |
rs1208057468 | p.Asn177Ser | missense variant | - | NC_000010.11:g.89711000A>G | gnomAD |
NCI-TCGA novel | p.Asn177Asp | missense variant | - | NC_000010.11:g.89710999A>G | NCI-TCGA |
NCI-TCGA novel | p.Asn177Ile | missense variant | - | NC_000010.11:g.89711000A>T | NCI-TCGA |
rs759285059 | p.Phe180Leu | missense variant | - | NC_000010.11:g.89711008T>C | ExAC,gnomAD |
rs1164042783 | p.Asp181Ala | missense variant | - | NC_000010.11:g.89711012A>C | TOPMed |
rs1195856719 | p.Leu183Pro | missense variant | - | NC_000010.11:g.89711018T>C | gnomAD |
rs1240652767 | p.Gln184Pro | missense variant | - | NC_000010.11:g.89711021A>C | gnomAD |
NCI-TCGA novel | p.Glu185Lys | missense variant | - | NC_000010.11:g.89711023G>A | NCI-TCGA |
rs1397005058 | p.Leu187Pro | missense variant | - | NC_000010.11:g.89711030T>C | gnomAD |
rs1422014586 | p.Tyr188Cys | missense variant | - | NC_000010.11:g.89711033A>G | TOPMed |
rs764335006 | p.Thr189Ala | missense variant | - | NC_000010.11:g.89711035A>G | ExAC,gnomAD |
rs1374837078 | p.Lys194Glu | missense variant | - | NC_000010.11:g.89711050A>G | gnomAD |
rs1320050810 | p.His196Arg | missense variant | - | NC_000010.11:g.89711057A>G | TOPMed,gnomAD |
rs1320050810 | p.His196Leu | missense variant | - | NC_000010.11:g.89711057A>T | TOPMed,gnomAD |
rs376008434 | p.Arg197Ser | missense variant | - | NC_000010.11:g.89711061A>T | ESP,TOPMed |
NCI-TCGA novel | p.Arg197Lys | missense variant | - | NC_000010.11:g.89711060G>A | NCI-TCGA |
rs148503567 | p.Tyr201His | missense variant | - | NC_000010.11:g.89711071T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Tyr201Asn | missense variant | - | NC_000010.11:g.89711071T>A | NCI-TCGA |
rs758511172 | p.Leu202Ser | missense variant | - | NC_000010.11:g.89711075T>C | ExAC,gnomAD |
rs1231515805 | p.Leu202Phe | missense variant | - | NC_000010.11:g.89711076A>C | gnomAD |
rs1048057 | p.Arg203Trp | missense variant | - | NC_000010.11:g.89711077A>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1292979738 | p.Ser205Leu | missense variant | - | NC_000010.11:g.89711084C>T | TOPMed,gnomAD |
rs1327770259 | p.Ser206Ter | stop gained | - | NC_000010.11:g.89711087C>A | gnomAD |
rs1207349056 | p.Ser206Ala | missense variant | - | NC_000010.11:g.89711086T>G | TOPMed,gnomAD |
rs1207349056 | p.Ser206Pro | missense variant | - | NC_000010.11:g.89711086T>C | TOPMed,gnomAD |
NCI-TCGA novel | p.Glu209Gln | missense variant | - | NC_000010.11:g.89711095G>C | NCI-TCGA |
rs755264224 | p.Lys210Arg | missense variant | - | NC_000010.11:g.89711099A>G | ExAC,gnomAD |
COSM921307 | p.Glu211Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000010.11:g.89711101G>T | NCI-TCGA Cosmic |
rs780841689 | p.Ala214Thr | missense variant | - | NC_000010.11:g.89711110G>A | ExAC,gnomAD |
rs199753491 | p.Ser215Asn | missense variant | - | NC_000010.11:g.89711114G>A | ESP,ExAC,TOPMed,gnomAD |
rs1255185936 | p.Ser215Gly | missense variant | - | NC_000010.11:g.89711113A>G | gnomAD |
rs534581065 | p.Lys216Arg | missense variant | - | NC_000010.11:g.89711117A>G | 1000Genomes,ExAC,gnomAD |
rs749248822 | p.Ser217Asn | missense variant | - | NC_000010.11:g.89711120G>A | ExAC,TOPMed,gnomAD |
rs1382653346 | p.Leu220Val | missense variant | - | NC_000010.11:g.89711128C>G | TOPMed,gnomAD |
rs369964051 | p.Arg221Trp | missense variant | - | NC_000010.11:g.89711131C>T | ESP,ExAC,TOPMed,gnomAD |
rs1326317707 | p.Arg221Gln | missense variant | - | NC_000010.11:g.89711132G>A | gnomAD |
rs759107250 | p.Gln222Arg | missense variant | - | NC_000010.11:g.89711135A>G | ExAC,gnomAD |
rs1009129144 | p.Ile223Val | missense variant | - | NC_000010.11:g.89711137A>G | gnomAD |
rs775018455 | p.Ile223Thr | missense variant | - | NC_000010.11:g.89711138T>C | ExAC,gnomAD |
rs775018455 | p.Ile223Asn | missense variant | - | NC_000010.11:g.89711138T>A | ExAC,gnomAD |
rs770921849 | p.Val228Gly | missense variant | - | NC_000010.11:g.89714054T>G | ExAC,gnomAD |
rs778382667 | p.His229Leu | missense variant | - | NC_000010.11:g.89714057A>T | ExAC,TOPMed,gnomAD |
rs778382667 | p.His229Arg | missense variant | - | NC_000010.11:g.89714057A>G | ExAC,TOPMed,gnomAD |
rs1333089782 | p.His229Asp | missense variant | - | NC_000010.11:g.89714056C>G | gnomAD |
rs771486548 | p.Asn230Ser | missense variant | - | NC_000010.11:g.89714060A>G | ExAC,gnomAD |
rs775166996 | p.Asp231Gly | missense variant | - | NC_000010.11:g.89714063A>G | ExAC,gnomAD |
rs201672657 | p.Ser232Cys | missense variant | - | NC_000010.11:g.89714065A>T | ExAC,TOPMed,gnomAD |
rs770258775 | p.Thr235Ile | missense variant | - | NC_000010.11:g.89714075C>T | ExAC,TOPMed,gnomAD |
rs964891843 | p.Ser239Cys | missense variant | - | NC_000010.11:g.89714957A>T | TOPMed |
rs367738722 | p.Ser239Asn | missense variant | - | NC_000010.11:g.89714958G>A | ESP,ExAC,TOPMed,gnomAD |
rs964891843 | p.Ser239Gly | missense variant | - | NC_000010.11:g.89714957A>G | TOPMed |
rs367738722 | p.Ser239Ile | missense variant | - | NC_000010.11:g.89714958G>T | ESP,ExAC,TOPMed,gnomAD |
rs760876341 | p.Asn242Lys | missense variant | - | NC_000010.11:g.89714968C>G | ExAC,gnomAD |
rs1261121084 | p.Ser243Pro | missense variant | - | NC_000010.11:g.89714969T>C | gnomAD |
rs764245271 | p.Leu244Phe | missense variant | - | NC_000010.11:g.89714974G>C | ExAC,TOPMed,gnomAD |
rs1218020735 | p.Leu244Ser | missense variant | - | NC_000010.11:g.89714973T>C | TOPMed |
rs754063164 | p.Asn245Thr | missense variant | - | NC_000010.11:g.89714976A>C | ExAC,TOPMed,gnomAD |
rs1277782575 | p.Phe249Cys | missense variant | - | NC_000010.11:g.89714988T>G | TOPMed |
rs1454442018 | p.Glu250Gly | missense variant | - | NC_000010.11:g.89714991A>G | TOPMed,gnomAD |
rs764963927 | p.Glu250Asp | missense variant | - | NC_000010.11:g.89714992A>C | ExAC |
rs750351064 | p.Glu251Gly | missense variant | - | NC_000010.11:g.89714994A>G | ExAC,gnomAD |
rs182944047 | p.Glu251Lys | missense variant | - | NC_000010.11:g.89714993G>A | 1000Genomes |
rs1342476150 | p.Ser252Pro | missense variant | - | NC_000010.11:g.89714996T>C | TOPMed |
rs964294773 | p.Ile253Val | missense variant | - | NC_000010.11:g.89714999A>G | TOPMed |
rs375843991 | p.Ile253Met | missense variant | - | NC_000010.11:g.89715001A>G | ESP,ExAC,TOPMed,gnomAD |
rs188045870 | p.Asp255Gly | missense variant | - | NC_000010.11:g.89715006A>G | 1000Genomes,ExAC,gnomAD |
rs1288643331 | p.Gln258Glu | missense variant | - | NC_000010.11:g.89715014C>G | gnomAD |
rs1395581811 | p.Ala259Val | missense variant | - | NC_000010.11:g.89715018C>T | gnomAD |
rs1414798721 | p.Asn260Tyr | missense variant | - | NC_000010.11:g.89715020A>T | TOPMed |
rs1399140161 | p.Asn260Ser | missense variant | - | NC_000010.11:g.89715021A>G | TOPMed |
rs754547001 | p.Asn260Lys | missense variant | - | NC_000010.11:g.89715022C>A | ExAC,gnomAD |
NCI-TCGA novel | p.Leu261Phe | missense variant | - | NC_000010.11:g.89715025G>T | NCI-TCGA |
rs747827642 | p.Asn262Ser | missense variant | - | NC_000010.11:g.89715027A>G | ExAC,gnomAD |
rs1315428577 | p.Asn265Ser | missense variant | - | NC_000010.11:g.89715036A>G | gnomAD |
rs377632658 | p.Ile267Val | missense variant | - | NC_000010.11:g.89715041A>G | ESP,ExAC,TOPMed,gnomAD |
rs779189217 | p.Lys268Arg | missense variant | - | NC_000010.11:g.89715045A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Lys268Thr | missense variant | - | NC_000010.11:g.89715045A>C | NCI-TCGA |
NCI-TCGA novel | p.Lys268Asn | missense variant | - | NC_000010.11:g.89715046A>T | NCI-TCGA |
rs746383366 | p.Val271Leu | missense variant | - | NC_000010.11:g.89715053G>C | ExAC,TOPMed,gnomAD |
rs746383366 | p.Val271Met | missense variant | - | NC_000010.11:g.89715053G>A | ExAC,TOPMed,gnomAD |
COSM3807947 | p.Phe275Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89715067C>G | NCI-TCGA Cosmic |
rs776079423 | p.Phe275Tyr | missense variant | - | NC_000010.11:g.89715066T>A | ExAC,TOPMed,gnomAD |
rs776079423 | p.Phe275Ser | missense variant | - | NC_000010.11:g.89715066T>C | ExAC,TOPMed,gnomAD |
rs201019984 | p.Phe276Val | missense variant | - | NC_000010.11:g.89715068T>G | ESP,ExAC,TOPMed,gnomAD |
rs768752700 | p.Tyr279Cys | missense variant | - | NC_000010.11:g.89715078A>G | ExAC,gnomAD |
rs776785358 | p.Asn280Ser | missense variant | - | NC_000010.11:g.89715081A>G | ExAC,TOPMed,gnomAD |
rs1467670043 | p.Ile283Phe | missense variant | - | NC_000010.11:g.89715089A>T | gnomAD |
rs200892725 | p.Tyr284Ter | stop gained | - | NC_000010.11:g.89715094T>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs765046922 | p.Tyr284Cys | missense variant | - | NC_000010.11:g.89715093A>G | ExAC,TOPMed,gnomAD |
rs766167617 | p.Val288Ile | missense variant | - | NC_000010.11:g.89715104G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Val288Ala | missense variant | - | NC_000010.11:g.89715105T>C | NCI-TCGA |
rs754491953 | p.Lys293Glu | missense variant | - | NC_000010.11:g.89715119A>G | ExAC,gnomAD |
rs1324093442 | p.Gln295Arg | missense variant | - | NC_000010.11:g.89715126A>G | TOPMed,gnomAD |
rs1393985414 | p.Lys296Gln | missense variant | - | NC_000010.11:g.89715128A>C | gnomAD |
COSM4915728 | p.Lys298Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89715135A>G | NCI-TCGA Cosmic |
rs1443088696 | p.Met299Leu | missense variant | - | NC_000010.11:g.89715137A>T | TOPMed,gnomAD |
rs1443088696 | p.Met299Val | missense variant | - | NC_000010.11:g.89715137A>G | TOPMed,gnomAD |
rs755790468 | p.Arg301His | missense variant | - | NC_000010.11:g.89715144G>A | ExAC,TOPMed,gnomAD |
rs138800578 | p.Arg301Cys | missense variant | - | NC_000010.11:g.89715143C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs755790468 | p.Arg301Leu | missense variant | - | NC_000010.11:g.89715144G>T | ExAC,TOPMed,gnomAD |
COSM3441426 | p.Ser303Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89715150C>T | NCI-TCGA Cosmic |
rs372546647 | p.Val306Leu | missense variant | - | NC_000010.11:g.89715158G>T | ESP,ExAC,TOPMed,gnomAD |
rs372546647 | p.Val306Ile | missense variant | - | NC_000010.11:g.89715158G>A | ESP,ExAC,TOPMed,gnomAD |
rs1234871077 | p.Lys307Arg | missense variant | - | NC_000010.11:g.89715162A>G | gnomAD |
rs375586078 | p.Tyr309Cys | missense variant | - | NC_000010.11:g.89715168A>G | ESP,ExAC,TOPMed,gnomAD |
rs1163530893 | p.Ile312Val | missense variant | - | NC_000010.11:g.89715176A>G | TOPMed |
rs758639872 | p.Asp314Val | missense variant | - | NC_000010.11:g.89716436A>T | ExAC |
rs1475875082 | p.Asp314Glu | missense variant | - | NC_000010.11:g.89716437T>A | gnomAD |
COSM466065 | p.Leu315Pro | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89716439T>C | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Leu315Val | missense variant | - | NC_000010.11:g.89716438C>G | NCI-TCGA |
rs1317197078 | p.Gln316Arg | missense variant | - | NC_000010.11:g.89716442A>G | TOPMed |
rs967139129 | p.Gln316Ter | stop gained | - | NC_000010.11:g.89716441C>T | TOPMed,gnomAD |
rs1174324802 | p.Trp317Cys | missense variant | - | NC_000010.11:g.89716446G>T | gnomAD |
NCI-TCGA novel | p.Trp317Cys | missense variant | - | NC_000010.11:g.89716446G>C | NCI-TCGA |
rs747481872 | p.Ile318Ser | missense variant | - | NC_000010.11:g.89716448T>G | ExAC,gnomAD |
rs1305381289 | p.Gln319Ter | stop gained | - | NC_000010.11:g.89716450C>T | gnomAD |
rs755542197 | p.Ser323Cys | missense variant | - | NC_000010.11:g.89716463C>G | ExAC,gnomAD |
NCI-TCGA novel | p.Ser323Phe | missense variant | - | NC_000010.11:g.89716463C>T | NCI-TCGA |
rs781231658 | p.Glu325Lys | missense variant | - | NC_000010.11:g.89716468G>A | ExAC,gnomAD |
rs1431052490 | p.Tyr327Cys | missense variant | - | NC_000010.11:g.89716475A>G | gnomAD |
rs1331651224 | p.Tyr327Ter | stop gained | - | NC_000010.11:g.89716476T>A | gnomAD |
COSM921308 | p.Arg328Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89716478G>T | NCI-TCGA Cosmic |
rs1346863495 | p.Arg328Lys | missense variant | - | NC_000010.11:g.89716478G>A | TOPMed |
rs748115970 | p.Arg328Gly | missense variant | - | NC_000010.11:g.89716477A>G | ExAC,TOPMed,gnomAD |
rs769919021 | p.Leu329Pro | missense variant | - | NC_000010.11:g.89716481T>C | ExAC,gnomAD |
COSM6067294 | p.Ile334Met | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89716497A>G | NCI-TCGA Cosmic |
rs1406165606 | p.His336Gln | missense variant | - | NC_000010.11:g.89716503C>A | TOPMed |
rs367763475 | p.Ser338Asn | missense variant | - | NC_000010.11:g.89716508G>A | ESP,ExAC,TOPMed,gnomAD |
rs1455639607 | p.Lys343Asn | missense variant | - | NC_000010.11:g.89716524A>T | TOPMed |
rs767505076 | p.Asn346Lys | missense variant | - | NC_000010.11:g.89716533T>A | ExAC,TOPMed,gnomAD |
rs377232644 | p.Ser348Cys | missense variant | - | NC_000010.11:g.89716538C>G | ESP,ExAC,TOPMed,gnomAD |
rs1194343108 | p.Ser349Asn | missense variant | - | NC_000010.11:g.89716541G>A | gnomAD |
rs760064623 | p.Ser351Thr | missense variant | - | NC_000010.11:g.89716547G>C | ExAC,TOPMed,gnomAD |
rs573176470 | p.His352Arg | missense variant | - | NC_000010.11:g.89717426A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs573176470 | p.His352Pro | missense variant | - | NC_000010.11:g.89717426A>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs760714022 | p.Ser353Thr | missense variant | - | NC_000010.11:g.89717429G>C | ExAC,TOPMed,gnomAD |
rs760714022 | p.Ser353Asn | missense variant | - | NC_000010.11:g.89717429G>A | ExAC,TOPMed,gnomAD |
rs763478746 | p.Ile354Val | missense variant | - | NC_000010.11:g.89717431A>G | ExAC,TOPMed,gnomAD |
rs776271223 | p.Thr356Ala | missense variant | - | NC_000010.11:g.89717437A>G | ExAC,gnomAD |
rs1293745676 | p.Lys358Arg | missense variant | - | NC_000010.11:g.89717444A>G | TOPMed |
rs1222003535 | p.Leu360Ter | stop gained | - | NC_000010.11:g.89717450T>G | TOPMed |
rs1316012058 | p.Gln361Arg | missense variant | - | NC_000010.11:g.89717453A>G | TOPMed |
rs764809501 | p.Gln361His | missense variant | - | NC_000010.11:g.89717454G>C | ExAC,gnomAD |
NCI-TCGA novel | p.Gln361AspPheSerTerUnk | frameshift | - | NC_000010.11:g.89717451_89717452AC>- | NCI-TCGA |
rs1281742674 | p.Asp364Ala | missense variant | - | NC_000010.11:g.89717462A>C | TOPMed |
rs1275337093 | p.Asp364Asn | missense variant | - | NC_000010.11:g.89717461G>A | gnomAD |
NCI-TCGA novel | p.Glu366Lys | missense variant | - | NC_000010.11:g.89717467G>A | NCI-TCGA |
rs555767778 | p.Ser368Phe | missense variant | - | NC_000010.11:g.89717474C>T | ExAC,TOPMed,gnomAD |
rs1438344995 | p.Ser368Ala | missense variant | - | NC_000010.11:g.89717473T>G | gnomAD |
rs555767778 | p.Ser368Cys | missense variant | - | NC_000010.11:g.89717474C>G | ExAC,TOPMed,gnomAD |
rs150890799 | p.Arg369His | missense variant | - | NC_000010.11:g.89717477G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs767920353 | p.Arg369Cys | missense variant | - | NC_000010.11:g.89717476C>T | ExAC,TOPMed,gnomAD |
COSM3441428 | p.Ile371Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89717483T>C | NCI-TCGA Cosmic |
rs371676289 | p.Arg372Ter | stop gained | - | NC_000010.11:g.89717485C>T | ESP,TOPMed,gnomAD |
rs756715290 | p.Arg372Gln | missense variant | - | NC_000010.11:g.89717486G>A | ExAC,TOPMed,gnomAD |
rs777705827 | p.Val373Phe | missense variant | - | NC_000010.11:g.89717488G>T | ExAC |
rs1412877109 | p.Ser374Thr | missense variant | - | NC_000010.11:g.89717492G>C | TOPMed |
rs1162142113 | p.Glu375Lys | missense variant | - | NC_000010.11:g.89717494G>A | gnomAD |
rs140162687 | p.Ser377Thr | missense variant | - | NC_000010.11:g.89717580T>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1427783864 | p.Cys379Ser | missense variant | - | NC_000010.11:g.89717586T>A | TOPMed |
rs1465110570 | p.Ala382Val | missense variant | - | NC_000010.11:g.89717596C>T | TOPMed |
rs1188037095 | p.Ala382Thr | missense variant | - | NC_000010.11:g.89717595G>A | TOPMed |
rs1400457473 | p.Glu385Lys | missense variant | - | NC_000010.11:g.89717604G>A | gnomAD |
rs767771862 | p.Arg386Gln | missense variant | - | NC_000010.11:g.89717608G>A | ExAC,TOPMed,gnomAD |
rs762636055 | p.Arg386Ter | stop gained | - | NC_000010.11:g.89717607C>T | ExAC,TOPMed,gnomAD |
rs753166649 | p.Thr387Ser | missense variant | - | NC_000010.11:g.89717611C>G | ExAC,gnomAD |
rs1462275798 | p.Met388Thr | missense variant | - | NC_000010.11:g.89717614T>C | TOPMed |
rs150319905 | p.Lys389Asn | missense variant | - | NC_000010.11:g.89717618G>T | 1000Genomes,ESP,TOPMed,gnomAD |
rs1307413444 | p.Thr390Ala | missense variant | - | NC_000010.11:g.89717619A>G | TOPMed |
rs1226361268 | p.Thr390Ile | missense variant | - | NC_000010.11:g.89717620C>T | gnomAD |
rs1296883429 | p.Glu393Val | missense variant | - | NC_000010.11:g.89717629A>T | gnomAD |
rs760964846 | p.Gly394Asp | missense variant | - | NC_000010.11:g.89717632G>A | ExAC,gnomAD |
rs1341383895 | p.Gly394Arg | missense variant | - | NC_000010.11:g.89717631G>C | gnomAD |
rs1341383895 | p.Gly394Ser | missense variant | - | NC_000010.11:g.89717631G>A | gnomAD |
rs1282240827 | p.Arg396Lys | missense variant | - | NC_000010.11:g.89717638G>A | gnomAD |
rs374218650 | p.Leu397Ile | missense variant | - | NC_000010.11:g.89717640T>A | 1000Genomes,ExAC,gnomAD |
rs754334159 | p.Glu399Lys | missense variant | - | NC_000010.11:g.89717646G>A | ExAC,gnomAD |
rs1429927407 | p.Thr400Ala | missense variant | - | NC_000010.11:g.89717649A>G | gnomAD |
NCI-TCGA novel | p.Thr400Ile | missense variant | - | NC_000010.11:g.89717650C>T | NCI-TCGA |
rs1186131810 | p.Asn402Ser | missense variant | - | NC_000010.11:g.89717656A>G | gnomAD |
rs1455105434 | p.Asn404Ile | missense variant | - | NC_000010.11:g.89717662A>T | gnomAD |
rs372350190 | p.Asn404Tyr | missense variant | - | NC_000010.11:g.89717661A>T | ESP,ExAC,TOPMed |
rs1465903356 | p.Ser406Cys | missense variant | - | NC_000010.11:g.89717668C>G | gnomAD |
rs758759265 | p.Cys413Tyr | missense variant | - | NC_000010.11:g.89717689G>A | ExAC,gnomAD |
rs1366329188 | p.Cys413Arg | missense variant | - | NC_000010.11:g.89717688T>C | TOPMed |
rs149456198 | p.Val416Ile | missense variant | - | NC_000010.11:g.89717697G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs149456198 | p.Val416Ile | missense variant | - | NC_000010.11:g.89717697G>A | NCI-TCGA |
rs1310356821 | p.Leu417Phe | missense variant | - | NC_000010.11:g.89717702G>T | gnomAD |
rs139360783 | p.Ser420Gly | missense variant | - | NC_000010.11:g.89717709A>G | 1000Genomes,ESP,ExAC,gnomAD |
rs548202480 | p.Ser420Asn | missense variant | - | NC_000010.11:g.89717710G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1246918973 | p.Lys422Glu | missense variant | - | NC_000010.11:g.89717715A>G | gnomAD |
rs1303499097 | p.Ser423Ala | missense variant | - | NC_000010.11:g.89717718T>G | TOPMed |
rs369009574 | p.Lys424Arg | missense variant | - | NC_000010.11:g.89717722A>G | ESP,ExAC,TOPMed,gnomAD |
rs769265565 | p.Lys424Glu | missense variant | - | NC_000010.11:g.89717721A>G | ExAC,gnomAD |
rs1287410937 | p.Gln426Ter | stop gained | - | NC_000010.11:g.89718714C>T | gnomAD |
rs1272917739 | p.Gln427His | missense variant | - | NC_000010.11:g.89718719G>C | TOPMed |
rs770380331 | p.His428Asp | missense variant | - | NC_000010.11:g.89718720C>G | ExAC,gnomAD |
rs946529893 | p.Val429Met | missense variant | - | NC_000010.11:g.89718723G>A | TOPMed |
rs769035292 | p.Arg432Gln | missense variant | - | NC_000010.11:g.89718733G>A | ExAC,TOPMed,gnomAD |
rs745557342 | p.Arg432Trp | missense variant | - | NC_000010.11:g.89718732C>T | ExAC,TOPMed,gnomAD |
rs777201675 | p.Glu433Gly | missense variant | - | NC_000010.11:g.89718736A>G | ExAC,gnomAD |
rs1381375117 | p.Ser434Gly | missense variant | - | NC_000010.11:g.89718738A>G | TOPMed |
rs369346911 | p.His438Arg | missense variant | - | NC_000010.11:g.89718751A>G | ESP,ExAC,TOPMed,gnomAD |
rs765780636 | p.His438Tyr | missense variant | - | NC_000010.11:g.89718750C>T | ExAC |
rs553169925 | p.Tyr439Cys | missense variant | - | NC_000010.11:g.89718754A>G | 1000Genomes,ExAC,gnomAD |
rs143205873 | p.Gln441His | missense variant | - | NC_000010.11:g.89718761A>T | ESP,ExAC,TOPMed,gnomAD |
COSM4695992 | p.Phe444LeuPheSerTerUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000010.11:g.89718764T>- | NCI-TCGA Cosmic |
rs755224380 | p.Asn445Asp | missense variant | - | NC_000010.11:g.89718771A>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Asn445Ter | frameshift | - | NC_000010.11:g.89718763_89718764insT | NCI-TCGA |
rs940553981 | p.Ile450Leu | missense variant | - | NC_000010.11:g.89718786A>C | TOPMed |
NCI-TCGA novel | p.Ile450Val | missense variant | - | NC_000010.11:g.89718786A>G | NCI-TCGA |
rs1372331213 | p.Cys451Tyr | missense variant | - | NC_000010.11:g.89718790G>A | TOPMed,gnomAD |
NCI-TCGA novel | p.Ile453Thr | missense variant | - | NC_000010.11:g.89718796T>C | NCI-TCGA |
rs1307205397 | p.Asn455Ser | missense variant | - | NC_000010.11:g.89718802A>G | gnomAD |
NCI-TCGA novel | p.Ile456Val | missense variant | - | NC_000010.11:g.89718804A>G | NCI-TCGA |
NCI-TCGA novel | p.Tyr460Cys | missense variant | - | NC_000010.11:g.89718817A>G | NCI-TCGA |
rs770205047 | p.Tyr463Cys | missense variant | - | NC_000010.11:g.89718826A>G | ExAC,gnomAD |
rs1377972859 | p.Asp464Asn | missense variant | - | NC_000010.11:g.89718828G>A | gnomAD |
rs1050271409 | p.Thr466Ile | missense variant | - | NC_000010.11:g.89718835C>T | TOPMed,gnomAD |
rs1340679367 | p.Asn468Ser | missense variant | - | NC_000010.11:g.89718841A>G | gnomAD |
rs756771073 | p.Val469Ala | missense variant | - | NC_000010.11:g.89718844T>C | ExAC,gnomAD |
rs377662650 | p.Ser473Pro | missense variant | - | NC_000010.11:g.89718855T>C | ESP,TOPMed |
rs1050818241 | p.Ala474Thr | missense variant | - | NC_000010.11:g.89718858G>A | TOPMed,gnomAD |
rs371014201 | p.Ile475Val | missense variant | - | NC_000010.11:g.89718861A>G | ESP,ExAC,TOPMed,gnomAD |
rs1237184251 | p.Ala476Val | missense variant | - | NC_000010.11:g.89718865C>T | gnomAD |
rs1486276465 | p.Gln477Arg | missense variant | - | NC_000010.11:g.89718868A>G | TOPMed,gnomAD |
rs141485845 | p.Cys480Ser | missense variant | - | NC_000010.11:g.89719423G>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs141485845 | p.Cys480Tyr | missense variant | - | NC_000010.11:g.89719423G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
COSM921309 | p.Cys480Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89719422T>C | NCI-TCGA Cosmic |
rs778469833 | p.Pro482Arg | missense variant | - | NC_000010.11:g.89719429C>G | ExAC,TOPMed,gnomAD |
rs778469833 | p.Pro482Gln | missense variant | - | NC_000010.11:g.89719429C>A | ExAC,TOPMed,gnomAD |
rs371696680 | p.Asp483Tyr | missense variant | - | NC_000010.11:g.89719431G>T | ESP,ExAC,TOPMed,gnomAD |
rs147397224 | p.Thr484Ser | missense variant | - | NC_000010.11:g.89719435C>G | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Thr484Ser | missense variant | - | NC_000010.11:g.89719434A>T | NCI-TCGA |
rs1056602407 | p.Asn486His | missense variant | - | NC_000010.11:g.89719440A>C | TOPMed |
rs375018458 | p.Ser488Phe | missense variant | - | NC_000010.11:g.89719447C>T | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ser488Cys | missense variant | - | NC_000010.11:g.89719447C>G | NCI-TCGA |
rs17484219 | p.Glu490Asp | missense variant | - | NC_000010.11:g.89719454G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs17484219 | p.Glu490Asp | missense variant | - | NC_000010.11:g.89719454G>T | UniProt,dbSNP |
VAR_030182 | p.Glu490Asp | missense variant | - | NC_000010.11:g.89719454G>T | UniProt |
rs1230598592 | p.Phe493Ser | missense variant | - | NC_000010.11:g.89719462T>C | gnomAD |
COSM6067292 | p.Gly494Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89719465G>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Val496Ala | missense variant | - | NC_000010.11:g.89719471T>C | NCI-TCGA |
rs548120859 | p.Lys497Arg | missense variant | - | NC_000010.11:g.89719474A>G | ExAC,TOPMed,gnomAD |
rs548120859 | p.Lys497Ile | missense variant | - | NC_000010.11:g.89719474A>T | ExAC,TOPMed,gnomAD |
rs1291468732 | p.Ser498Pro | missense variant | - | NC_000010.11:g.89719476T>C | TOPMed |
rs757053340 | p.Gln500Glu | missense variant | - | NC_000010.11:g.89719482C>G | ExAC,TOPMed,gnomAD |
rs1214403238 | p.Asp501Tyr | missense variant | - | NC_000010.11:g.89719485G>T | gnomAD |
rs1327823453 | p.Val502Ile | missense variant | - | NC_000010.11:g.89719488G>A | TOPMed |
rs1227033333 | p.Asp505His | missense variant | - | NC_000010.11:g.89719497G>C | TOPMed |
COSM921310 | p.Asp505Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89719497G>T | NCI-TCGA Cosmic |
rs958119693 | p.Ser506Gly | missense variant | - | NC_000010.11:g.89719500A>G | TOPMed,gnomAD |
rs775671805 | p.Ser506Thr | missense variant | - | NC_000010.11:g.89719501G>C | ExAC,TOPMed,gnomAD |
rs775671805 | p.Ser506Asn | missense variant | - | NC_000010.11:g.89719501G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ser506Ter | frameshift | - | NC_000010.11:g.89719500_89719501AG>- | NCI-TCGA |
rs141486158 | p.Asn509Lys | missense variant | - | NC_000010.11:g.89719511C>G | ESP,ExAC,TOPMed,gnomAD |
rs150845034 | p.Lys511Glu | missense variant | - | NC_000010.11:g.89719515A>G | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Lys511Asn | missense variant | - | NC_000010.11:g.89719517A>C | NCI-TCGA |
rs765013645 | p.Asn514Ser | missense variant | - | NC_000010.11:g.89719525A>G | ExAC,TOPMed,gnomAD |
rs761678395 | p.Asn514His | missense variant | - | NC_000010.11:g.89719524A>C | ExAC,TOPMed,gnomAD |
rs761678395 | p.Asn514Asp | missense variant | - | NC_000010.11:g.89719524A>G | ExAC,TOPMed,gnomAD |
rs115052864 | p.Lys516Arg | missense variant | - | NC_000010.11:g.89719531A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1444964039 | p.Ala518Val | missense variant | - | NC_000010.11:g.89719537C>T | gnomAD |
rs1323535396 | p.Ile520Thr | missense variant | - | NC_000010.11:g.89719543T>C | gnomAD |
rs757932251 | p.Ile520Val | missense variant | - | NC_000010.11:g.89719542A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Ile520Leu | missense variant | - | NC_000010.11:g.89719542A>C | NCI-TCGA |
rs751225494 | p.Trp522Cys | missense variant | - | NC_000010.11:g.89719550G>T | ExAC,gnomAD |
rs1286775074 | p.Asn524Asp | missense variant | - | NC_000010.11:g.89719554A>G | gnomAD |
rs780913616 | p.Ser525Asn | missense variant | - | NC_000010.11:g.89719558G>A | ExAC,TOPMed,gnomAD |
rs535352183 | p.Leu526Pro | missense variant | - | NC_000010.11:g.89719561T>C | 1000Genomes,ExAC,gnomAD |
rs535352183 | p.Leu526Arg | missense variant | - | NC_000010.11:g.89719561T>G | 1000Genomes,ExAC,gnomAD |
NCI-TCGA novel | p.Glu527Ter | stop gained | - | NC_000010.11:g.89719563G>T | NCI-TCGA |
rs746427013 | p.Met530Ile | missense variant | - | NC_000010.11:g.89719574G>A | ExAC,TOPMed,gnomAD |
rs779240069 | p.Met530Leu | missense variant | - | NC_000010.11:g.89719572A>T | ExAC,TOPMed,gnomAD |
rs1483341788 | p.Asp532Tyr | missense variant | - | NC_000010.11:g.89719578G>T | gnomAD |
rs775616820 | p.Glu533Lys | missense variant | - | NC_000010.11:g.89719581G>A | ExAC,gnomAD |
rs747221522 | p.Glu538Gln | missense variant | - | NC_000010.11:g.89719596G>C | ExAC,gnomAD |
rs776914048 | p.Ala542Thr | missense variant | - | NC_000010.11:g.89719608G>A | ExAC,gnomAD |
COSM921311 | p.Glu544Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89719614G>A | NCI-TCGA Cosmic |
rs1407671391 | p.Thr545Ile | missense variant | - | NC_000010.11:g.89719618C>T | gnomAD |
NCI-TCGA novel | p.Gln546Ter | stop gained | - | NC_000010.11:g.89719620C>T | NCI-TCGA |
rs761472099 | p.Asn547Ile | missense variant | - | NC_000010.11:g.89719624A>T | ExAC,gnomAD |
rs765098083 | p.Val548Glu | missense variant | - | NC_000010.11:g.89719627T>A | ExAC,gnomAD |
rs765098083 | p.Val548Ala | missense variant | - | NC_000010.11:g.89719627T>C | ExAC,gnomAD |
rs773001312 | p.Thr550Ser | missense variant | - | NC_000010.11:g.89719633C>G | ExAC,gnomAD |
rs1219026345 | p.Lys551Arg | missense variant | - | NC_000010.11:g.89719636A>G | TOPMed |
rs146154520 | p.Lys551Glu | missense variant | - | NC_000010.11:g.89719635A>G | ESP,ExAC,TOPMed,gnomAD |
rs1276846309 | p.Leu552Phe | missense variant | - | NC_000010.11:g.89719638C>T | TOPMed |
rs140167608 | p.Leu553Arg | missense variant | - | NC_000010.11:g.89719642T>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs140167608 | p.Leu553Pro | missense variant | - | NC_000010.11:g.89719642T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1338918540 | p.Asp554Glu | missense variant | - | NC_000010.11:g.89719646T>G | gnomAD |
rs1244244914 | p.Asp556Glu | missense variant | - | NC_000010.11:g.89719652T>A | gnomAD |
rs373446473 | p.Asp558Gly | missense variant | - | NC_000010.11:g.89719657A>G | ESP,ExAC,TOPMed,gnomAD |
rs373446473 | p.Asp558Val | missense variant | - | NC_000010.11:g.89719657A>T | ESP,ExAC,TOPMed,gnomAD |
rs1364636200 | p.Asp558Tyr | missense variant | - | NC_000010.11:g.89719656G>T | TOPMed |
rs941361816 | p.Lys559Glu | missense variant | - | NC_000010.11:g.89719659A>G | TOPMed |
rs1175224001 | p.Leu561Val | missense variant | - | NC_000010.11:g.89719665T>G | TOPMed |
rs1200805646 | p.Glu563Gly | missense variant | - | NC_000010.11:g.89719672A>G | TOPMed,gnomAD |
rs1482633345 | p.Glu563Lys | missense variant | - | NC_000010.11:g.89719671G>A | gnomAD |
rs779378406 | p.Asn564Ser | missense variant | - | NC_000010.11:g.89719675A>G | ExAC,gnomAD |
rs1257918755 | p.Asn564Asp | missense variant | - | NC_000010.11:g.89719674A>G | TOPMed,gnomAD |
NCI-TCGA novel | p.Asn564Thr | missense variant | - | NC_000010.11:g.89719675A>C | NCI-TCGA |
rs1186243011 | p.Lys565Glu | missense variant | - | NC_000010.11:g.89719677A>G | gnomAD |
rs746372007 | p.Ala566Ser | missense variant | - | NC_000010.11:g.89719680G>T | ExAC,gnomAD |
rs746372007 | p.Ala566Pro | missense variant | - | NC_000010.11:g.89719680G>C | ExAC,gnomAD |
rs377420072 | p.Ser569Thr | missense variant | - | NC_000010.11:g.89719690G>C | ESP,ExAC,TOPMed,gnomAD |
rs780550307 | p.His570Tyr | missense variant | - | NC_000010.11:g.89719692C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Glu571Lys | missense variant | - | NC_000010.11:g.89719695G>A | NCI-TCGA |
rs768808298 | p.Arg574Thr | missense variant | - | NC_000010.11:g.89719705G>C | ExAC,TOPMed,gnomAD |
rs768808298 | p.Arg574Lys | missense variant | - | NC_000010.11:g.89719705G>A | ExAC,TOPMed,gnomAD |
rs1395617105 | p.Arg574Ser | missense variant | - | NC_000010.11:g.89719706A>T | gnomAD |
rs754987089 | p.Asp578Ala | missense variant | - | NC_000010.11:g.89723974A>C | ExAC,TOPMed,gnomAD |
rs371134968 | p.Ile580Val | missense variant | - | NC_000010.11:g.89723979A>G | ESP,ExAC,TOPMed,gnomAD |
rs748313937 | p.Ile580Met | missense variant | - | NC_000010.11:g.89723981A>G | ExAC,TOPMed,gnomAD |
rs770111248 | p.Asp582Asn | missense variant | - | NC_000010.11:g.89723985G>A | ExAC,gnomAD |
rs778153285 | p.Lys584Glu | missense variant | - | NC_000010.11:g.89723991A>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Lys585Asn | missense variant | - | NC_000010.11:g.89723996A>C | NCI-TCGA |
rs770872298 | p.Lys586Asn | missense variant | - | NC_000010.11:g.89723999A>C | ExAC,TOPMed,gnomAD |
rs759563026 | p.Leu587Arg | missense variant | - | NC_000010.11:g.89724001T>G | ExAC,TOPMed,gnomAD |
rs1266919497 | p.Asn589Ser | missense variant | - | NC_000010.11:g.89724007A>G | gnomAD |
NCI-TCGA novel | p.Asn589His | missense variant | - | NC_000010.11:g.89724006A>C | NCI-TCGA |
rs771482152 | p.Glu590Gly | missense variant | - | NC_000010.11:g.89724010A>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Glu590Lys | missense variant | - | NC_000010.11:g.89724009G>A | NCI-TCGA |
rs1265830960 | p.Lys592Glu | missense variant | - | NC_000010.11:g.89724015A>G | gnomAD |
NCI-TCGA novel | p.Lys592ArgPheSerTerUnk | frameshift | - | NC_000010.11:g.89724010A>- | NCI-TCGA |
rs1432984208 | p.Lys594Arg | missense variant | - | NC_000010.11:g.89724022A>G | gnomAD |
rs1454271169 | p.Lys594Glu | missense variant | - | NC_000010.11:g.89724021A>G | TOPMed |
rs775126321 | p.Leu595Phe | missense variant | - | NC_000010.11:g.89724026A>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Leu595Ile | missense variant | - | NC_000010.11:g.89724024T>A | NCI-TCGA |
rs1481263293 | p.Thr596Ser | missense variant | - | NC_000010.11:g.89724027A>T | TOPMed |
rs753517112 | p.Glu598Ter | stop gained | - | NC_000010.11:g.89724033G>T | ExAC,gnomAD |
rs901445846 | p.Lys600Arg | missense variant | - | NC_000010.11:g.89724040A>G | TOPMed |
rs763251034 | p.Lys600Glu | missense variant | - | NC_000010.11:g.89724039A>G | ExAC,gnomAD |
rs766774900 | p.Ile601Val | missense variant | - | NC_000010.11:g.89724042A>G | ExAC,gnomAD |
rs571660825 | p.Arg602Ter | stop gained | - | NC_000010.11:g.89724045C>T | TOPMed,gnomAD |
rs1486480017 | p.Gln611Ter | stop gained | - | NC_000010.11:g.89724072C>T | TOPMed |
rs1305805927 | p.Tyr612Cys | missense variant | - | NC_000010.11:g.89724076A>G | gnomAD |
rs866470653 | p.Ala614Thr | missense variant | - | NC_000010.11:g.89724081G>A | gnomAD |
rs866470653 | p.Ala614Ser | missense variant | - | NC_000010.11:g.89724081G>T | gnomAD |
rs1264211249 | p.Gln615His | missense variant | - | NC_000010.11:g.89724086A>T | TOPMed,gnomAD |
rs752762024 | p.Arg616Gln | missense variant | - | NC_000010.11:g.89724088G>A | ExAC,gnomAD |
rs1027968562 | p.Arg616Trp | missense variant | - | NC_000010.11:g.89724087C>T | TOPMed |
rs1326094307 | p.Glu617Lys | missense variant | - | NC_000010.11:g.89724090G>A | TOPMed |
rs1284217141 | p.Glu617Gly | missense variant | - | NC_000010.11:g.89724091A>G | TOPMed |
rs371085455 | p.Ala618Thr | missense variant | - | NC_000010.11:g.89724093G>A | ESP,ExAC,TOPMed,gnomAD |
rs1297861852 | p.Phe620Leu | missense variant | - | NC_000010.11:g.89724101T>A | TOPMed |
rs778094059 | p.Lys621Thr | missense variant | - | NC_000010.11:g.89724103A>C | ExAC,TOPMed,gnomAD |
rs1382784773 | p.Lys621Gln | missense variant | - | NC_000010.11:g.89724102A>C | TOPMed |
NCI-TCGA novel | p.Lys621Met | missense variant | - | NC_000010.11:g.89724103A>T | NCI-TCGA |
rs146858896 | p.Glu622Ala | missense variant | - | NC_000010.11:g.89725022A>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs754111994 | p.Glu622Gln | missense variant | - | NC_000010.11:g.89725021G>C | ExAC,TOPMed,gnomAD |
rs985560925 | p.Thr623Ser | missense variant | - | NC_000010.11:g.89725025C>G | TOPMed,gnomAD |
rs911415682 | p.Gln626Arg | missense variant | - | NC_000010.11:g.89725034A>G | TOPMed |
rs941548577 | p.Glu627Val | missense variant | - | NC_000010.11:g.89725037A>T | TOPMed,gnomAD |
rs142589580 | p.Arg628Ter | stop gained | - | NC_000010.11:g.89725039C>T | ESP,ExAC,TOPMed,gnomAD |
rs758155614 | p.Arg628Gln | missense variant | - | NC_000010.11:g.89725040G>A | ExAC,gnomAD |
rs758155614 | p.Arg628Pro | missense variant | - | NC_000010.11:g.89725040G>C | ExAC,gnomAD |
rs779990837 | p.Glu629Lys | missense variant | - | NC_000010.11:g.89725042G>A | ExAC,gnomAD |
rs746346176 | p.Glu629Gly | missense variant | - | NC_000010.11:g.89725043A>G | ExAC,TOPMed,gnomAD |
rs768120334 | p.Ile630Leu | missense variant | - | NC_000010.11:g.89725045A>C | ExAC,TOPMed,gnomAD |
rs150954557 | p.Ile630Met | missense variant | - | NC_000010.11:g.89725047A>G | ESP,ExAC,TOPMed,gnomAD |
rs768120334 | p.Ile630Val | missense variant | - | NC_000010.11:g.89725045A>G | ExAC,TOPMed,gnomAD |
rs769377812 | p.Asn634Thr | missense variant | - | NC_000010.11:g.89725058A>C | ExAC,TOPMed,gnomAD |
rs1404824792 | p.Glu636Gly | missense variant | - | NC_000010.11:g.89725064A>G | gnomAD |
rs375544106 | p.Arg637Cys | missense variant | - | NC_000010.11:g.89725066C>T | ESP,ExAC,TOPMed,gnomAD |
rs1221270148 | p.Arg637His | missense variant | - | NC_000010.11:g.89725067G>A | TOPMed,gnomAD |
rs1363717002 | p.Arg638His | missense variant | - | NC_000010.11:g.89725070G>A | gnomAD |
rs755409283 | p.Arg638Cys | missense variant | - | NC_000010.11:g.89725069C>T | ExAC,TOPMed,gnomAD |
rs767823064 | p.Leu639Val | missense variant | - | NC_000010.11:g.89725072T>G | ExAC,TOPMed,gnomAD |
rs368955427 | p.Ala640Thr | missense variant | - | NC_000010.11:g.89725075G>A | ESP,ExAC,TOPMed,gnomAD |
rs140716229 | p.Ile641Val | missense variant | - | NC_000010.11:g.89725078A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs764260171 | p.Phe642Leu | missense variant | - | NC_000010.11:g.89725081T>C | ExAC,TOPMed,gnomAD |
rs753914848 | p.Lys643Arg | missense variant | - | NC_000010.11:g.89725085A>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Lys643Asn | missense variant | - | NC_000010.11:g.89725086G>T | NCI-TCGA |
rs757420354 | p.Asp644Gly | missense variant | - | NC_000010.11:g.89725088A>G | ExAC,TOPMed,gnomAD |
rs1206034890 | p.Asp644Asn | missense variant | - | NC_000010.11:g.89725087G>A | TOPMed |
rs757420354 | p.Asp644Val | missense variant | - | NC_000010.11:g.89725088A>T | ExAC,TOPMed,gnomAD |
rs1206034890 | p.Asp644Tyr | missense variant | - | NC_000010.11:g.89725087G>T | TOPMed |
rs767767972 | p.Gly647Arg | missense variant | - | NC_000010.11:g.89725096G>C | TOPMed |
rs1210735142 | p.Lys648Asn | missense variant | - | NC_000010.11:g.89725101A>T | gnomAD |
rs372702796 | p.Thr651Ala | missense variant | - | NC_000010.11:g.89725108A>G | ESP,ExAC,TOPMed,gnomAD |
rs372702796 | p.Thr651Pro | missense variant | - | NC_000010.11:g.89725108A>C | ESP,ExAC,TOPMed,gnomAD |
rs746958313 | p.Arg652Gln | missense variant | - | NC_000010.11:g.89725112G>A | ExAC,gnomAD |
rs758186840 | p.Arg652Ter | stop gained | - | NC_000010.11:g.89725111C>T | ExAC,TOPMed,gnomAD |
rs111669804 | p.Glu654Ala | missense variant | - | NC_000010.11:g.89725118A>C | ExAC,TOPMed,gnomAD |
rs111669804 | p.Glu654Gly | missense variant | - | NC_000010.11:g.89725118A>G | ExAC,TOPMed,gnomAD |
rs1478894265 | p.Glu654Lys | missense variant | - | NC_000010.11:g.89725117G>A | TOPMed,gnomAD |
rs781120688 | p.Ala655Thr | missense variant | - | NC_000010.11:g.89725120G>A | ExAC,gnomAD |
rs145716217 | p.Ala656Glu | missense variant | - | NC_000010.11:g.89725124C>A | ESP,ExAC,TOPMed,gnomAD |
rs145716217 | p.Ala656Val | missense variant | - | NC_000010.11:g.89725124C>T | ESP,ExAC,TOPMed,gnomAD |
rs376644821 | p.Ala656Thr | missense variant | - | NC_000010.11:g.89725123G>A | ESP,ExAC,gnomAD |
rs145716217 | p.Ala656Gly | missense variant | - | NC_000010.11:g.89725124C>G | ESP,ExAC,TOPMed,gnomAD |
rs775779401 | p.Cys660Arg | missense variant | - | NC_000010.11:g.89725135T>C | ExAC,gnomAD |
COSM4016543 | p.Cys660Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89725136G>T | NCI-TCGA Cosmic |
rs761139450 | p.Ala661Val | missense variant | - | NC_000010.11:g.89725139C>T | ExAC,gnomAD |
rs1230430143 | p.Lys663Glu | missense variant | - | NC_000010.11:g.89725144A>G | TOPMed,gnomAD |
rs777312246 | p.Val664Ala | missense variant | - | NC_000010.11:g.89725148T>C | ExAC,TOPMed,gnomAD |
rs761932655 | p.Glu665Gly | missense variant | - | NC_000010.11:g.89725151A>G | ExAC,gnomAD |
rs1290510809 | p.Glu667Asp | missense variant | - | NC_000010.11:g.89725158A>C | gnomAD |
rs1308448981 | p.Glu668Lys | missense variant | - | NC_000010.11:g.89726293G>A | gnomAD |
rs1163531647 | p.Thr669Ser | missense variant | - | NC_000010.11:g.89726296A>T | TOPMed,gnomAD |
rs762447837 | p.His670Tyr | missense variant | - | NC_000010.11:g.89726299C>T | ExAC,TOPMed |
rs1432021348 | p.His670Arg | missense variant | - | NC_000010.11:g.89726300A>G | TOPMed,gnomAD |
rs1432021348 | p.His670Leu | missense variant | - | NC_000010.11:g.89726300A>T | TOPMed,gnomAD |
NCI-TCGA novel | p.Asn671Thr | missense variant | - | NC_000010.11:g.89726303A>C | NCI-TCGA |
rs1364705356 | p.Tyr672His | missense variant | - | NC_000010.11:g.89726305T>C | gnomAD |
rs199671628 | p.Tyr672Ter | stop gained | - | NC_000010.11:g.89726307T>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1415106024 | p.Gly674Glu | missense variant | - | NC_000010.11:g.89726312G>A | TOPMed |
rs1166618034 | p.Glu676Gln | missense variant | - | NC_000010.11:g.89726317G>C | TOPMed |
rs763106606 | p.Ile678Ser | missense variant | - | NC_000010.11:g.89726324T>G | ExAC,TOPMed,gnomAD |
rs1451939041 | p.Asp680Glu | missense variant | - | NC_000010.11:g.89726331T>G | gnomAD |
rs1314304144 | p.Ser681Cys | missense variant | - | NC_000010.11:g.89726333C>G | gnomAD |
rs1314304144 | p.Ser681Tyr | missense variant | - | NC_000010.11:g.89726333C>A | gnomAD |
rs1238818412 | p.Gln683His | missense variant | - | NC_000010.11:g.89726340A>T | TOPMed |
rs139423559 | p.Asp684Val | missense variant | - | NC_000010.11:g.89726342A>T | 1000Genomes,ExAC,gnomAD |
rs139423559 | p.Asp684Gly | missense variant | - | NC_000010.11:g.89726342A>G | 1000Genomes,ExAC,gnomAD |
rs113908675 | p.Asn685Ile | missense variant | - | NC_000010.11:g.89726345A>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs113908675 | p.Asn685Ser | missense variant | - | NC_000010.11:g.89726345A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ala687Thr | missense variant | - | NC_000010.11:g.89726350G>A | NCI-TCGA |
rs551492524 | p.Ile689Phe | missense variant | - | NC_000010.11:g.89726356A>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1344888406 | p.Ile689Met | missense variant | - | NC_000010.11:g.89726358T>G | TOPMed |
rs1182368644 | p.Leu698Phe | missense variant | - | NC_000010.11:g.89726385A>T | gnomAD |
rs777783770 | p.Leu698Ser | missense variant | - | NC_000010.11:g.89726384T>C | ExAC,gnomAD |
rs757008979 | p.Tyr699Cys | missense variant | - | NC_000010.11:g.89726387A>G | gnomAD |
rs768009282 | p.Tyr699His | missense variant | - | NC_000010.11:g.89726386T>C | TOPMed,gnomAD |
rs753225098 | p.Ile700Val | missense variant | - | NC_000010.11:g.89726389A>G | ExAC,gnomAD |
rs753225098 | p.Ile700Leu | missense variant | - | NC_000010.11:g.89726389A>C | ExAC,gnomAD |
rs191962962 | p.Ser702Thr | missense variant | - | NC_000010.11:g.89726395T>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1466836347 | p.Pro704Arg | missense variant | - | NC_000010.11:g.89726402C>G | gnomAD |
rs745562196 | p.Asp705Glu | missense variant | - | NC_000010.11:g.89726406C>G | ExAC,gnomAD |
rs745562196 | p.Asp705Glu | missense variant | - | NC_000010.11:g.89726406C>A | ExAC,gnomAD |
rs1469419098 | p.Pro706Arg | missense variant | - | NC_000010.11:g.89726408C>G | gnomAD |
NCI-TCGA novel | p.Gln707ProPheSerTerUnkUnk | frameshift | - | NC_000010.11:g.89726405_89726406insC | NCI-TCGA |
rs781730356 | p.Ala709Asp | missense variant | - | NC_000010.11:g.89726417C>A | ExAC,gnomAD |
rs748647932 | p.Thr710Ala | missense variant | - | NC_000010.11:g.89726419A>G | ExAC,TOPMed,gnomAD |
rs773773250 | p.Cys712Gly | missense variant | - | NC_000010.11:g.89726425T>G | ExAC,gnomAD |
rs1325664745 | p.Leu713Ser | missense variant | - | NC_000010.11:g.89726429T>C | gnomAD |
rs964470518 | p.Glu714Lys | missense variant | - | NC_000010.11:g.89726431G>A | TOPMed |
COSM921312 | p.Glu714Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000010.11:g.89726431G>T | NCI-TCGA Cosmic |
rs771063788 | p.Gln719His | missense variant | - | NC_000010.11:g.89726448A>C | ExAC,TOPMed,gnomAD |
rs762899192 | p.Gln719Arg | missense variant | - | NC_000010.11:g.89726447A>G | ExAC,gnomAD |
rs774526818 | p.Ile720Leu | missense variant | - | NC_000010.11:g.89726449A>C | ExAC,gnomAD |
rs759823642 | p.Thr727Asn | missense variant | - | NC_000010.11:g.89726471C>A | ExAC,gnomAD |
rs1202547461 | p.Thr727Ala | missense variant | - | NC_000010.11:g.89726470A>G | TOPMed,gnomAD |
rs1203925009 | p.Lys728Glu | missense variant | - | NC_000010.11:g.89726473A>G | gnomAD |
rs1261580176 | p.Gly729Ter | stop gained | - | NC_000010.11:g.89726476G>T | gnomAD |
COSM275736 | p.Glu730Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89726479G>A | NCI-TCGA Cosmic |
rs183238428 | p.Lys735Asn | missense variant | - | NC_000010.11:g.89726496A>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1160055698 | p.Lys739Asn | missense variant | - | NC_000010.11:g.89726508A>C | gnomAD |
NCI-TCGA novel | p.Lys740Asn | missense variant | - | NC_000010.11:g.89726511G>T | NCI-TCGA |
rs760527281 | p.Arg741Gly | missense variant | - | NC_000010.11:g.89726512A>G | ExAC,gnomAD |
COSM3807951 | p.Glu742Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000010.11:g.89726515G>T | NCI-TCGA Cosmic |
rs763900980 | p.Asn743Asp | missense variant | - | NC_000010.11:g.89726518A>G | ExAC,TOPMed,gnomAD |
rs763900980 | p.Asn743His | missense variant | - | NC_000010.11:g.89726518A>C | ExAC,TOPMed,gnomAD |
rs776398093 | p.Ser745Leu | missense variant | - | NC_000010.11:g.89727859C>T | ExAC,gnomAD |
rs1305650443 | p.Asp746Asn | missense variant | - | NC_000010.11:g.89727861G>A | gnomAD |
rs775923499 | p.Leu748Phe | missense variant | - | NC_000010.11:g.89727869G>C | TOPMed,gnomAD |
rs1019348983 | p.Gln750Glu | missense variant | - | NC_000010.11:g.89727873C>G | TOPMed |
rs1299000723 | p.Leu752Phe | missense variant | - | NC_000010.11:g.89727879C>T | gnomAD |
rs1248846151 | p.Leu752Pro | missense variant | - | NC_000010.11:g.89727880T>C | gnomAD |
COSM1968912 | p.Glu753Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89727882G>C | NCI-TCGA Cosmic |
rs764824532 | p.Glu753Lys | missense variant | - | NC_000010.11:g.89727882G>A | ExAC,gnomAD |
rs749892495 | p.Thr754Ala | missense variant | - | NC_000010.11:g.89727885A>G | ExAC,gnomAD |
rs1206233983 | p.Thr754Lys | missense variant | - | NC_000010.11:g.89727886C>A | gnomAD |
rs12572012 | p.Asn756Ile | missense variant | - | NC_000010.11:g.89727892A>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs200422852 | p.Asn756Asp | missense variant | - | NC_000010.11:g.89727891A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1425590100 | p.Lys757Asn | missense variant | - | NC_000010.11:g.89727896G>T | gnomAD |
rs756411084 | p.Lys757Arg | missense variant | - | NC_000010.11:g.89727895A>G | ExAC,gnomAD |
rs904759468 | p.Lys758Glu | missense variant | - | NC_000010.11:g.89729128A>G | TOPMed |
rs1421948070 | p.Lys758Asn | missense variant | - | NC_000010.11:g.89729130A>T | TOPMed,gnomAD |
rs1169325644 | p.Ile760Val | missense variant | - | NC_000010.11:g.89729134A>G | gnomAD |
rs773312148 | p.Thr761Ile | missense variant | - | NC_000010.11:g.89729138C>T | ExAC,gnomAD |
rs769783936 | p.Thr761Ala | missense variant | - | NC_000010.11:g.89729137A>G | ExAC,TOPMed,gnomAD |
rs762501126 | p.Arg765Lys | missense variant | - | NC_000010.11:g.89729150G>A | ExAC,TOPMed,gnomAD |
rs762501126 | p.Arg765Ile | missense variant | - | NC_000010.11:g.89729150G>T | ExAC,TOPMed,gnomAD |
rs1242043653 | p.Ile766Val | missense variant | - | NC_000010.11:g.89729152A>G | TOPMed |
rs751139534 | p.Lys767Glu | missense variant | - | NC_000010.11:g.89729155A>G | ExAC,gnomAD |
COSM1675416 | p.Glu768Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000010.11:g.89729158G>T | NCI-TCGA Cosmic |
rs767089419 | p.Leu769Ser | missense variant | - | NC_000010.11:g.89729162T>C | ExAC,gnomAD |
rs754166229 | p.Ile770Val | missense variant | - | NC_000010.11:g.89729164A>G | ExAC,gnomAD |
rs116288233 | p.Asn771Asp | missense variant | - | NC_000010.11:g.89729167A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs3758387 | p.Ile772Val | missense variant | - | NC_000010.11:g.89729170A>G | gnomAD |
COSM6130877 | p.Asp774Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89729176G>T | NCI-TCGA Cosmic |
rs779346249 | p.Lys776Gln | missense variant | - | NC_000010.11:g.89729182A>C | ExAC,gnomAD |
NCI-TCGA novel | p.Glu777Ter | stop gained | - | NC_000010.11:g.89729185G>T | NCI-TCGA |
rs147005975 | p.Ile780Val | missense variant | - | NC_000010.11:g.89729194A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs147005975 | p.Ile780Phe | missense variant | - | NC_000010.11:g.89729194A>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs780243396 | p.Ile780Thr | missense variant | - | NC_000010.11:g.89729195T>C | ExAC,TOPMed,gnomAD |
rs1243722331 | p.Asn781Ser | missense variant | - | NC_000010.11:g.89729198A>G | gnomAD |
rs1296800715 | p.Glu782Asp | missense variant | - | NC_000010.11:g.89729202A>T | TOPMed |
rs373615206 | p.Glu782Lys | missense variant | - | NC_000010.11:g.89729200G>A | ESP,TOPMed,gnomAD |
NCI-TCGA novel | p.Glu782Ala | missense variant | - | NC_000010.11:g.89729201A>C | NCI-TCGA |
rs768863280 | p.Gln784Ter | stop gained | - | NC_000010.11:g.89729206C>T | ExAC,gnomAD |
rs781271666 | p.Gln784Arg | missense variant | - | NC_000010.11:g.89729207A>G | ExAC,gnomAD |
rs747911223 | p.Leu786Val | missense variant | - | NC_000010.11:g.89729212C>G | ExAC,gnomAD |
rs769732448 | p.Lys787Asn | missense variant | - | NC_000010.11:g.89729217G>T | ExAC,TOPMed,gnomAD |
rs3758388 | p.His789Leu | missense variant | - | NC_000010.11:g.89729222A>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1320867650 | p.His789Asp | missense variant | - | NC_000010.11:g.89729221C>G | gnomAD |
rs76150148 | p.Met790Val | missense variant | - | NC_000010.11:g.89729224A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs909819762 | p.Met790Ile | missense variant | - | NC_000010.11:g.89729226G>A | TOPMed |
rs976720001 | p.Glu791Lys | missense variant | - | NC_000010.11:g.89729227G>A | TOPMed |
rs1394768783 | p.Asn792Ile | missense variant | - | NC_000010.11:g.89729231A>T | TOPMed,gnomAD |
rs1221951095 | p.Cys796Ser | missense variant | - | NC_000010.11:g.89729242T>A | TOPMed,gnomAD |
rs377501846 | p.Asn797Lys | missense variant | - | NC_000010.11:g.89729247T>G | ESP,ExAC,gnomAD |
rs528777679 | p.Asn797Tyr | missense variant | - | NC_000010.11:g.89729245A>T | 1000Genomes,ExAC,gnomAD |
rs1329952739 | p.Asn797Ser | missense variant | - | NC_000010.11:g.89729246A>G | gnomAD |
rs1380062662 | p.Asp798Gly | missense variant | - | NC_000010.11:g.89732904A>G | TOPMed |
rs765569384 | p.Asp798Glu | missense variant | - | NC_000010.11:g.89732905C>A | ExAC,gnomAD |
rs1033738666 | p.Asp801Gly | missense variant | - | NC_000010.11:g.89732913A>G | TOPMed |
rs773503670 | p.Thr802Ile | missense variant | - | NC_000010.11:g.89732916C>T | ExAC,gnomAD |
rs1482266620 | p.Thr802Ser | missense variant | - | NC_000010.11:g.89732915A>T | TOPMed,gnomAD |
COSM3807953 | p.Ser804Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89732922C>G | NCI-TCGA Cosmic |
rs560443579 | p.Ile806Val | missense variant | - | NC_000010.11:g.89732927A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs766866013 | p.Ile806Arg | missense variant | - | NC_000010.11:g.89732928T>G | ExAC,TOPMed |
rs752027575 | p.Ile807Leu | missense variant | - | NC_000010.11:g.89732930A>C | ExAC,TOPMed,gnomAD |
rs752027575 | p.Ile807Val | missense variant | - | NC_000010.11:g.89732930A>G | ExAC,TOPMed,gnomAD |
rs189443463 | p.Asn808Lys | missense variant | - | NC_000010.11:g.89732935C>A | 1000Genomes,TOPMed,gnomAD |
NCI-TCGA novel | p.Asn808Lys | missense variant | - | NC_000010.11:g.89732935C>G | NCI-TCGA |
rs1249941374 | p.Leu811Trp | missense variant | - | NC_000010.11:g.89732943T>G | TOPMed |
rs767533013 | p.Asn814Ser | missense variant | - | NC_000010.11:g.89732952A>G | ExAC,gnomAD |
rs1179678295 | p.Glu815Ter | stop gained | - | NC_000010.11:g.89732954G>T | gnomAD |
rs756348312 | p.Pro820Ser | missense variant | - | NC_000010.11:g.89732969C>T | ExAC,gnomAD |
rs1460807823 | p.Ser823Arg | missense variant | - | NC_000010.11:g.89732980C>G | TOPMed |
COSM921314 | p.Ser823Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89732979G>A | NCI-TCGA Cosmic |
rs1339702482 | p.Ser823Gly | missense variant | - | NC_000010.11:g.89732978A>G | gnomAD |
NCI-TCGA novel | p.Ser823Ile | missense variant | - | NC_000010.11:g.89732979G>T | NCI-TCGA |
rs1253925115 | p.Lys824Glu | missense variant | - | NC_000010.11:g.89732981A>G | TOPMed |
rs757027479 | p.Lys824Arg | missense variant | - | NC_000010.11:g.89732982A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Lys824Asn | missense variant | - | NC_000010.11:g.89732983A>C | NCI-TCGA |
NCI-TCGA novel | p.Lys824Thr | missense variant | - | NC_000010.11:g.89732982A>C | NCI-TCGA |
rs1201966012 | p.Ser825Thr | missense variant | - | NC_000010.11:g.89732984T>A | TOPMed |
rs778890662 | p.Lys826Glu | missense variant | - | NC_000010.11:g.89732987A>G | ExAC,TOPMed,gnomAD |
rs376723750 | p.Cys828Ser | missense variant | - | NC_000010.11:g.89732994G>C | ESP,ExAC,TOPMed,gnomAD |
rs144738424 | p.Ser829Ter | stop gained | - | NC_000010.11:g.89732997C>G | ESP,ExAC,TOPMed |
rs1297694740 | p.Glu830Ala | missense variant | - | NC_000010.11:g.89733000A>C | TOPMed |
NCI-TCGA novel | p.Arg831SerPheSerTerUnk | frameshift | - | NC_000010.11:g.89733003_89733004insCTAC | NCI-TCGA |
rs148101512 | p.Asn835Ser | missense variant | - | NC_000010.11:g.89733015A>G | ESP |
rs989688519 | p.Gln840Arg | missense variant | - | NC_000010.11:g.89733030A>G | TOPMed,gnomAD |
rs371603977 | p.Asp842Gly | missense variant | - | NC_000010.11:g.89733036A>G | ESP,ExAC,TOPMed,gnomAD |
rs1374026137 | p.Glu843Lys | missense variant | - | NC_000010.11:g.89733038G>A | gnomAD |
rs374027434 | p.Pro845Leu | missense variant | - | NC_000010.11:g.89733045C>T | ESP,ExAC,TOPMed,gnomAD |
rs1403329599 | p.Lys847Glu | missense variant | - | NC_000010.11:g.89733050A>G | TOPMed |
rs1395957162 | p.Lys848Asn | missense variant | - | NC_000010.11:g.89733055A>C | gnomAD |
rs768226883 | p.Lys848Thr | missense variant | - | NC_000010.11:g.89733054A>C | ExAC,gnomAD |
rs1304584605 | p.Gly849Glu | missense variant | - | NC_000010.11:g.89737387G>A | gnomAD |
rs764311635 | p.Ile851Val | missense variant | - | NC_000010.11:g.89737392A>G | ExAC,TOPMed,gnomAD |
rs748246289 | p.Ile851Thr | missense variant | - | NC_000010.11:g.89737393T>C | TOPMed,gnomAD |
rs754090221 | p.His852Arg | missense variant | - | NC_000010.11:g.89737396A>G | ExAC,gnomAD |
rs762003553 | p.Val853Phe | missense variant | - | NC_000010.11:g.89737398G>T | ExAC,TOPMed,gnomAD |
rs765514704 | p.Val853Ala | missense variant | - | NC_000010.11:g.89737399T>C | ExAC,TOPMed,gnomAD |
COSM428114 | p.Ser854Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89737401A>T | NCI-TCGA Cosmic |
rs750114333 | p.Ser854Gly | missense variant | - | NC_000010.11:g.89737401A>G | ExAC,TOPMed,gnomAD |
rs758239922 | p.Ser855Leu | missense variant | - | NC_000010.11:g.89737405C>T | ExAC,TOPMed,gnomAD |
rs370484351 | p.Ala856Asp | missense variant | - | NC_000010.11:g.89737408C>A | ESP,ExAC,gnomAD |
rs370484351 | p.Ala856Val | missense variant | - | NC_000010.11:g.89737408C>T | ESP,ExAC,gnomAD |
rs751544939 | p.Ile857Val | missense variant | - | NC_000010.11:g.89737410A>G | ExAC,gnomAD |
rs1252796663 | p.Thr858Ile | missense variant | - | NC_000010.11:g.89737414C>T | gnomAD |
rs1280489945 | p.Gln861Arg | missense variant | - | NC_000010.11:g.89737423A>G | TOPMed |
rs754451636 | p.Ser864Thr | missense variant | - | NC_000010.11:g.89737432G>C | ExAC,gnomAD |
rs1417349052 | p.Ser864Cys | missense variant | - | NC_000010.11:g.89737431A>T | gnomAD |
rs1379536336 | p.Glu866Gln | missense variant | - | NC_000010.11:g.89737437G>C | gnomAD |
rs79120882 | p.Glu866Ala | missense variant | - | NC_000010.11:g.89737438A>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Glu866Lys | missense variant | - | NC_000010.11:g.89737437G>A | NCI-TCGA |
rs747822069 | p.Arg868Ter | stop gained | - | NC_000010.11:g.89737443C>T | ExAC,TOPMed,gnomAD |
rs146050509 | p.Arg868Gln | missense variant | - | NC_000010.11:g.89737444G>A | ESP,ExAC,TOPMed,gnomAD |
rs1457068575 | p.Pro869Thr | missense variant | - | NC_000010.11:g.89737446C>A | gnomAD |
rs777512294 | p.Pro869Leu | missense variant | - | NC_000010.11:g.89737447C>T | ExAC,TOPMed,gnomAD |
rs1457068575 | p.Pro869Ala | missense variant | - | NC_000010.11:g.89737446C>G | gnomAD |
rs78963463 | p.Asn870Ser | missense variant | - | NC_000010.11:g.89737450A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs114505265 | p.Ile871Val | missense variant | - | NC_000010.11:g.89737452A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs375340649 | p.Ile871Thr | missense variant | - | NC_000010.11:g.89737453T>C | ESP,ExAC,TOPMed,gnomAD |
rs1248691006 | p.Glu873Ala | missense variant | - | NC_000010.11:g.89737459A>C | gnomAD |
rs768846216 | p.Ile874Val | missense variant | - | NC_000010.11:g.89737461A>G | ExAC,gnomAD |
rs1357880033 | p.Ile874Met | missense variant | - | NC_000010.11:g.89737463T>G | TOPMed |
rs776518445 | p.Asp876Gly | missense variant | - | NC_000010.11:g.89737468A>G | ExAC,gnomAD |
COSM921316 | p.Asp876Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89737467G>T | NCI-TCGA Cosmic |
rs765334220 | p.Ile877Leu | missense variant | - | NC_000010.11:g.89737470A>C | ExAC,gnomAD |
rs750678256 | p.Arg878Thr | missense variant | - | NC_000010.11:g.89737474G>C | ExAC,gnomAD |
rs762711597 | p.Val879Ile | missense variant | - | NC_000010.11:g.89737476G>A | ExAC,TOPMed |
rs766200114 | p.Gln881Arg | missense variant | - | NC_000010.11:g.89737483A>G | ExAC,TOPMed,gnomAD |
rs938519006 | p.Glu882Asp | missense variant | - | NC_000010.11:g.89737487A>C | TOPMed,gnomAD |
NCI-TCGA novel | p.Asn883IlePheSerTerUnk | frameshift | - | NC_000010.11:g.89737489_89737511ATAATGAAGGACTGAGAGCATTT>- | NCI-TCGA |
NCI-TCGA novel | p.Asn883His | missense variant | - | NC_000010.11:g.89737488A>C | NCI-TCGA |
rs754966153 | p.Glu885Lys | missense variant | - | NC_000010.11:g.89737494G>A | ExAC,gnomAD |
rs752109208 | p.Gly886Val | missense variant | - | NC_000010.11:g.89737498G>T | ExAC,gnomAD |
rs781202563 | p.Gly886Arg | missense variant | - | NC_000010.11:g.89737497G>A | ExAC,gnomAD |
rs755673341 | p.Arg888Thr | missense variant | - | NC_000010.11:g.89737504G>C | ExAC,gnomAD |
rs146393515 | p.Ala889Ser | missense variant | - | NC_000010.11:g.89737506G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs146393515 | p.Ala889Thr | missense variant | - | NC_000010.11:g.89737506G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1188060483 | p.Leu892His | missense variant | - | NC_000010.11:g.89737516T>A | TOPMed |
rs368315164 | p.Leu892Val | missense variant | - | NC_000010.11:g.89737515C>G | ESP,ExAC,TOPMed,gnomAD |
rs372813515 | p.Thr893Ile | missense variant | - | NC_000010.11:g.89737519C>T | ESP,ExAC,TOPMed,gnomAD |
rs747394790 | p.Ile894Val | missense variant | - | NC_000010.11:g.89737521A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Glu895Gln | missense variant | - | NC_000010.11:g.89737524G>C | NCI-TCGA |
rs1176079556 | p.Lys899Gln | missense variant | - | NC_000010.11:g.89737536A>C | gnomAD |
rs201846033 | p.Glu901Gly | missense variant | - | NC_000010.11:g.89737543A>G | ExAC,TOPMed,gnomAD |
rs748124141 | p.Lys902Glu | missense variant | - | NC_000010.11:g.89737545A>G | ExAC,TOPMed,gnomAD |
rs769962290 | p.Ala906Glu | missense variant | - | NC_000010.11:g.89737558C>A | ExAC,TOPMed,gnomAD |
rs766148294 | p.Asn909Ser | missense variant | - | NC_000010.11:g.89737567A>G | ExAC,TOPMed,gnomAD |
rs766148294 | p.Asn909Ile | missense variant | - | NC_000010.11:g.89737567A>T | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Asn909Asp | missense variant | - | NC_000010.11:g.89737566A>G | NCI-TCGA |
rs1482807052 | p.Ile912Val | missense variant | - | NC_000010.11:g.89737575A>G | gnomAD |
rs1286443862 | p.Ile912Asn | missense variant | - | NC_000010.11:g.89737576T>A | TOPMed |
rs1453907899 | p.His914Asn | missense variant | - | NC_000010.11:g.89737581C>A | TOPMed |
NCI-TCGA novel | p.Gln917CysSer | insertion | - | NC_000010.11:g.89737591_89737592insATGTTC | NCI-TCGA |
rs774073640 | p.Glu918Val | missense variant | - | NC_000010.11:g.89737594A>T | ExAC,gnomAD |
rs1426337178 | p.Leu919Val | missense variant | - | NC_000010.11:g.89737596C>G | gnomAD |
rs1329645484 | p.Ser920Pro | missense variant | - | NC_000010.11:g.89737599T>C | TOPMed |
COSM6067290 | p.Leu921Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89737602C>G | NCI-TCGA Cosmic |
rs759331085 | p.Ser922Pro | missense variant | - | NC_000010.11:g.89737605T>C | ExAC,gnomAD |
rs375938397 | p.Lys924Arg | missense variant | - | NC_000010.11:g.89737612A>G | ESP,ExAC,gnomAD |
COSM3415329 | p.Lys925Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89737616G>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Lys925ArgPheSerTerUnk | frameshift | - | NC_000010.11:g.89737609A>- | NCI-TCGA |
rs752730939 | p.Asn926Ser | missense variant | - | NC_000010.11:g.89737618A>G | ExAC |
rs1365687384 | p.Leu927Ter | stop gained | - | NC_000010.11:g.89737621T>G | gnomAD |
rs763729318 | p.Thr928Ala | missense variant | - | NC_000010.11:g.89737623A>G | ExAC,gnomAD |
rs753530758 | p.Ser930Thr | missense variant | - | NC_000010.11:g.89737630G>C | ExAC,TOPMed,gnomAD |
rs1360179353 | p.Lys931Glu | missense variant | - | NC_000010.11:g.89737632A>G | gnomAD |
rs756914916 | p.Glu932Ter | stop gained | - | NC_000010.11:g.89737635G>T | ExAC,TOPMed,gnomAD |
rs756914916 | p.Glu932Lys | missense variant | - | NC_000010.11:g.89737635G>A | ExAC,TOPMed,gnomAD |
rs778717324 | p.Val933Gly | missense variant | - | NC_000010.11:g.89737639T>G | ExAC,gnomAD |
rs116910696 | p.Gln937His | missense variant | - | NC_000010.11:g.89737652G>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs116910696 | p.Gln937His | missense variant | - | NC_000010.11:g.89737652G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1245735389 | p.Ser938Ter | stop gained | - | NC_000010.11:g.89737654C>G | TOPMed |
rs369103401 | p.Tyr940Asp | missense variant | - | NC_000010.11:g.89737659T>G | ESP,ExAC,TOPMed,gnomAD |
rs1311512445 | p.Asp941Gly | missense variant | - | NC_000010.11:g.89737663A>G | TOPMed,gnomAD |
rs781525524 | p.Asp941Asn | missense variant | - | NC_000010.11:g.89737662G>A | ExAC,gnomAD |
rs1302020036 | p.Ile942Thr | missense variant | - | NC_000010.11:g.89737666T>C | gnomAD |
rs550934310 | p.Ala945Thr | missense variant | - | NC_000010.11:g.89737674G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1307561148 | p.Leu947Ser | missense variant | - | NC_000010.11:g.89737681T>C | TOPMed |
rs539858808 | p.His948Pro | missense variant | - | NC_000010.11:g.89737684A>C | 1000Genomes,ExAC,gnomAD |
rs539858808 | p.His948Arg | missense variant | - | NC_000010.11:g.89737684A>G | 1000Genomes,ExAC,gnomAD |
rs150024761 | p.His948Tyr | missense variant | - | NC_000010.11:g.89737683C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs774578114 | p.Val949Met | missense variant | - | NC_000010.11:g.89737686G>A | ExAC,TOPMed,gnomAD |
rs774578114 | p.Val949Leu | missense variant | - | NC_000010.11:g.89737686G>C | ExAC,TOPMed,gnomAD |
rs1401759406 | p.Gln950Lys | missense variant | - | NC_000010.11:g.89737689C>A | gnomAD |
NCI-TCGA novel | p.Gln950HisPheSerTerUnkUnk | frameshift | - | NC_000010.11:g.89737689_89737690insATTTCTTA | NCI-TCGA |
NCI-TCGA novel | p.Gln950PheArgPro | insertion | - | NC_000010.11:g.89737691_89737692insTTTCGTCCT | NCI-TCGA |
rs759304471 | p.Lys951Arg | missense variant | - | NC_000010.11:g.89737693A>G | ExAC |
rs1343824202 | p.Asn954Thr | missense variant | - | NC_000010.11:g.89737702A>C | gnomAD |
NCI-TCGA novel | p.Asn954His | missense variant | - | NC_000010.11:g.89737701A>C | NCI-TCGA |
COSM466067 | p.Gln955Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89737704C>A | NCI-TCGA Cosmic |
COSM921318 | p.Gln957His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89737712G>T | NCI-TCGA Cosmic |
rs1276580891 | p.Gln957Pro | missense variant | - | NC_000010.11:g.89737711A>C | gnomAD |
rs775282828 | p.Glu958Ter | stop gained | - | NC_000010.11:g.89737713G>T | ExAC,gnomAD |
rs775282828 | p.Glu958Lys | missense variant | - | NC_000010.11:g.89737713G>A | ExAC,gnomAD |
rs760720747 | p.Glu958Val | missense variant | - | NC_000010.11:g.89737714A>T | ExAC,gnomAD |
rs763948311 | p.Glu959Asp | missense variant | - | NC_000010.11:g.89737718A>C | ExAC,TOPMed,gnomAD |
rs1351694051 | p.Lys960Glu | missense variant | - | NC_000010.11:g.89737719A>G | TOPMed |
COSM1321985 | p.Lys960Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89737721G>T | NCI-TCGA Cosmic |
rs1274302530 | p.Lys960Arg | missense variant | - | NC_000010.11:g.89737720A>G | gnomAD |
rs144947333 | p.Ile961Met | missense variant | - | NC_000010.11:g.89737724C>G | ESP,ExAC,TOPMed,gnomAD |
rs753328541 | p.Ile961Val | missense variant | - | NC_000010.11:g.89737722A>G | ExAC,TOPMed,gnomAD |
rs1220465776 | p.Met962Val | missense variant | - | NC_000010.11:g.89737725A>G | gnomAD |
rs375953320 | p.Asn966His | missense variant | - | NC_000010.11:g.89737737A>C | ESP,TOPMed,gnomAD |
rs375953320 | p.Asn966Asp | missense variant | - | NC_000010.11:g.89737737A>G | ESP,TOPMed,gnomAD |
rs1419426176 | p.Ile968Thr | missense variant | - | NC_000010.11:g.89737744T>C | TOPMed |
rs1489218050 | p.Thr972Ile | missense variant | - | NC_000010.11:g.89737756C>T | TOPMed |
rs1024644135 | p.Arg973Gly | missense variant | - | NC_000010.11:g.89737758A>G | TOPMed |
COSM921319 | p.Arg973Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89737759G>T | NCI-TCGA Cosmic |
rs1489227857 | p.Ser974Thr | missense variant | - | NC_000010.11:g.89737762G>C | gnomAD |
COSM257235 | p.Ser974Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89737762G>A | NCI-TCGA Cosmic |
rs199626794 | p.Ile975Val | missense variant | - | NC_000010.11:g.89737764A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs755269444 | p.Ile975Asn | missense variant | - | NC_000010.11:g.89737765T>A | ExAC,gnomAD |
rs149051114 | p.Thr976Ile | missense variant | - | NC_000010.11:g.89737768C>T | ESP,ExAC,TOPMed,gnomAD |
rs753133210 | p.Asn977Tyr | missense variant | - | NC_000010.11:g.89737770A>T | ExAC,gnomAD |
rs753133210 | p.Asn977Asp | missense variant | - | NC_000010.11:g.89737770A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Ile982Val | missense variant | - | NC_000010.11:g.89737785A>G | NCI-TCGA |
rs1378934225 | p.Ile982Met | missense variant | - | NC_000010.11:g.89737787A>G | gnomAD |
rs573380739 | p.Met985Val | missense variant | - | NC_000010.11:g.89737794A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs536047150 | p.Met985Thr | missense variant | - | NC_000010.11:g.89737795T>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs771048255 | p.His986Tyr | missense variant | - | NC_000010.11:g.89737797C>T | ExAC,TOPMed,gnomAD |
rs779075638 | p.Thr987Met | missense variant | - | NC_000010.11:g.89737801C>T | ExAC,TOPMed,gnomAD |
rs147780471 | p.Lys988Asn | missense variant | - | NC_000010.11:g.89737805A>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs775294446 | p.Ile989Val | missense variant | - | NC_000010.11:g.89737806A>G | ExAC,TOPMed,gnomAD |
rs760387684 | p.Ile989Met | missense variant | - | NC_000010.11:g.89737808A>G | ExAC,gnomAD |
rs1281281711 | p.Ile989Thr | missense variant | - | NC_000010.11:g.89737807T>C | gnomAD |
rs768593820 | p.Asp990Gly | missense variant | - | NC_000010.11:g.89737810A>G | ExAC,gnomAD |
rs761389049 | p.Glu991Lys | missense variant | - | NC_000010.11:g.89737812G>A | ExAC,TOPMed,gnomAD |
rs764883701 | p.Glu991Gly | missense variant | - | NC_000010.11:g.89737813A>G | ExAC,gnomAD |
rs373614828 | p.Glu991Asp | missense variant | - | NC_000010.11:g.89737814A>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs762726364 | p.Leu992Pro | missense variant | - | NC_000010.11:g.89737816T>C | ExAC,TOPMed,gnomAD |
rs771883789 | p.Arg993Pro | missense variant | - | NC_000010.11:g.89737819G>C | ExAC,TOPMed,gnomAD |
rs765962967 | p.Arg993Cys | missense variant | - | NC_000010.11:g.89737818C>T | ExAC,gnomAD |
COSM921320 | p.Arg993ValPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000010.11:g.89737818C>- | NCI-TCGA Cosmic |
rs771883789 | p.Arg993His | missense variant | - | NC_000010.11:g.89737819G>A | ExAC,TOPMed,gnomAD |
rs756466212 | p.Leu995Phe | missense variant | - | NC_000010.11:g.89737824C>T | ExAC,gnomAD |
rs1051925305 | p.Ser997Leu | missense variant | - | NC_000010.11:g.89737831C>T | gnomAD |
rs1051925305 | p.Ser997Ter | stop gained | - | NC_000010.11:g.89737831C>G | gnomAD |
NCI-TCGA novel | p.Ser999Phe | missense variant | - | NC_000010.11:g.89737837C>T | NCI-TCGA |
rs754382182 | p.Ile1001Val | missense variant | - | NC_000010.11:g.89737842A>G | ExAC,TOPMed,gnomAD |
rs757323881 | p.Ile1001Met | missense variant | - | NC_000010.11:g.89737844T>G | ExAC,gnomAD |
rs1397484102 | p.Ile1001Thr | missense variant | - | NC_000010.11:g.89737843T>C | gnomAD |
rs34999049 | p.Asn1003Asp | missense variant | - | NC_000010.11:g.89737848A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1476547878 | p.Asn1003Ser | missense variant | - | NC_000010.11:g.89737849A>G | TOPMed |
rs759603637 | p.Ile1004ArgPheSerTerUnkUnk | frameshift | - | NC_000010.11:g.89737851_89737852AT>- | NCI-TCGA |
rs745947393 | p.Asp1005Ala | missense variant | - | NC_000010.11:g.89737855A>C | ExAC,TOPMed,gnomAD |
rs1384741968 | p.Leu1006Phe | missense variant | - | NC_000010.11:g.89737859G>T | gnomAD |
rs1315583361 | p.Leu1006Ter | stop gained | - | NC_000010.11:g.89737858T>A | gnomAD |
rs1384741968 | p.Leu1006Phe | missense variant | - | NC_000010.11:g.89737859G>C | gnomAD |
rs760311235 | p.Leu1007His | missense variant | - | NC_000010.11:g.89737861T>A | ExAC,TOPMed,gnomAD |
rs1215858463 | p.Asn1008Ser | missense variant | - | NC_000010.11:g.89737864A>G | TOPMed,gnomAD |
rs768625398 | p.Asn1008Asp | missense variant | - | NC_000010.11:g.89737863A>G | ExAC,gnomAD |
rs148049931 | p.Leu1009Phe | missense variant | - | NC_000010.11:g.89737866C>T | ESP,ExAC,TOPMed,gnomAD |
rs1208416129 | p.Leu1009Arg | missense variant | - | NC_000010.11:g.89737867T>G | TOPMed |
rs1062465 | p.Asp1011Glu | missense variant | - | NC_000010.11:g.89737874T>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1441119412 | p.Ser1013Ala | missense variant | - | NC_000010.11:g.89737878T>G | TOPMed,gnomAD |
NCI-TCGA novel | p.Ser1013Ter | stop gained | - | NC_000010.11:g.89737879C>G | NCI-TCGA |
COSM921321 | p.Asn1020Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89737900A>C | NCI-TCGA Cosmic |
rs762375702 | p.Leu1021Ser | missense variant | - | NC_000010.11:g.89737903T>C | ExAC,TOPMed,gnomAD |
rs751194437 | p.Asn1023His | missense variant | - | NC_000010.11:g.89737908A>C | ExAC,gnomAD |
rs1378286762 | p.Asn1023Ser | missense variant | - | NC_000010.11:g.89737909A>G | TOPMed |
rs1470309561 | p.Thr1024Ile | missense variant | - | NC_000010.11:g.89737912C>T | gnomAD |
COSM686124 | p.Thr1024Ala | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89737911A>G | NCI-TCGA Cosmic |
rs764509050 | p.Asn1031Ser | missense variant | - | NC_000010.11:g.89737933A>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Asn1031Asp | missense variant | - | NC_000010.11:g.89737932A>G | NCI-TCGA |
rs757702483 | p.Tyr1033Phe | missense variant | - | NC_000010.11:g.89737939A>T | ExAC,gnomAD |
rs1316756789 | p.Leu1034Ser | missense variant | - | NC_000010.11:g.89737942T>C | gnomAD |
rs765735174 | p.Ser1036Thr | missense variant | - | NC_000010.11:g.89737948G>C | ExAC,TOPMed,gnomAD |
rs765735174 | p.Ser1036Ile | missense variant | - | NC_000010.11:g.89737948G>T | ExAC,TOPMed,gnomAD |
rs758425932 | p.Gln1038Arg | missense variant | - | NC_000010.11:g.89737954A>G | ExAC,gnomAD |
rs750472714 | p.Gln1038Glu | missense variant | - | NC_000010.11:g.89737953C>G | ExAC,gnomAD |
rs1429664350 | p.Lys1040Arg | missense variant | - | NC_000010.11:g.89737960A>G | TOPMed |
rs1463164504 | p.Glu1041Lys | missense variant | - | NC_000010.11:g.89737962G>A | gnomAD |
NCI-TCGA novel | p.Glu1041Ala | missense variant | - | NC_000010.11:g.89737963A>C | NCI-TCGA |
rs780296597 | p.Tyr1042His | missense variant | - | NC_000010.11:g.89737965T>C | ExAC,gnomAD |
rs369579248 | p.Tyr1042Cys | missense variant | - | NC_000010.11:g.89737966A>G | ESP,ExAC,gnomAD |
rs371655633 | p.Arg1043Gln | missense variant | - | NC_000010.11:g.89737969G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs150367819 | p.Arg1043Ter | stop gained | - | NC_000010.11:g.89737968C>T | ExAC,gnomAD |
rs371655633 | p.Arg1043Leu | missense variant | - | NC_000010.11:g.89737969G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs375178802 | p.Glu1046Asp | missense variant | - | NC_000010.11:g.89737979A>C | ESP,ExAC,TOPMed,gnomAD |
rs748783218 | p.Pro1047His | missense variant | - | NC_000010.11:g.89737981C>A | ExAC,gnomAD |
rs774047998 | p.Asn1048Ser | missense variant | - | NC_000010.11:g.89737984A>G | ExAC,TOPMed,gnomAD |
rs770386949 | p.Asn1048Asp | missense variant | - | NC_000010.11:g.89737983A>G | ExAC,gnomAD |
rs774047998 | p.Asn1048Ile | missense variant | - | NC_000010.11:g.89737984A>T | ExAC,TOPMed,gnomAD |
rs767167656 | p.Arg1049Gly | missense variant | - | NC_000010.11:g.89737986A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Asn1051Ser | missense variant | - | NC_000010.11:g.89737993A>G | NCI-TCGA |
rs776912439 | p.Ser1052Tyr | missense variant | - | NC_000010.11:g.89737996C>A | ExAC,gnomAD |
COSM3441434 | p.Ser1052Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89737996C>T | NCI-TCGA Cosmic |
rs1296038031 | p.His1054Arg | missense variant | - | NC_000010.11:g.89738002A>G | gnomAD |
rs765680007 | p.Ser1056Thr | missense variant | - | NC_000010.11:g.89738008G>C | ExAC,gnomAD |
rs765680007 | p.Ser1056Ile | missense variant | - | NC_000010.11:g.89738008G>T | ExAC,gnomAD |
rs1302731113 | p.Ile1057Ser | missense variant | - | NC_000010.11:g.89738011T>G | TOPMed,gnomAD |
rs758477425 | p.Ala1059Thr | missense variant | - | NC_000010.11:g.89738016G>A | ExAC,gnomAD |
rs766439713 | p.Trp1061Ser | missense variant | - | NC_000010.11:g.89738023G>C | ExAC,TOPMed,gnomAD |
rs1353290708 | p.Glu1062Ter | stop gained | - | NC_000010.11:g.89738025G>T | gnomAD |
rs1024742853 | p.Cys1064Gly | missense variant | - | NC_000010.11:g.89738031T>G | TOPMed |
rs373589296 | p.Glu1066Asp | missense variant | - | NC_000010.11:g.89738039G>C | ESP,ExAC,TOPMed,gnomAD |
rs1490568537 | p.Ile1067Val | missense variant | - | NC_000010.11:g.89738040A>G | TOPMed,gnomAD |
rs138228331 | p.Ala1070Ser | missense variant | - | NC_000010.11:g.89738049G>T | ESP,ExAC,TOPMed,gnomAD |
rs541996453 | p.Ala1070Gly | missense variant | - | NC_000010.11:g.89738050C>G | 1000Genomes |
rs138228331 | p.Ala1070Thr | missense variant | - | NC_000010.11:g.89738049G>A | ESP,ExAC,TOPMed,gnomAD |
rs138228331 | p.Ala1070Pro | missense variant | - | NC_000010.11:g.89738049G>C | ESP,ExAC,TOPMed,gnomAD |
COSM4821027 | p.Ser1071Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89738053C>T | NCI-TCGA Cosmic |
rs777744964 | p.Lys1073Gln | missense variant | - | NC_000010.11:g.89738058A>C | ExAC,TOPMed,gnomAD |
rs770460815 | p.Lys1074Asn | missense variant | - | NC_000010.11:g.89738063A>C | ExAC,gnomAD |
rs201617733 | p.Ser1075Asn | missense variant | - | NC_000010.11:g.89738065G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
COSM1968953 | p.Ser1075ValPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000010.11:g.89738058A>- | NCI-TCGA Cosmic |
rs745385361 | p.Ser1075Gly | missense variant | - | NC_000010.11:g.89738064A>G | ExAC,gnomAD |
rs367727797 | p.His1076Arg | missense variant | - | NC_000010.11:g.89738068A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.His1076Pro | missense variant | - | NC_000010.11:g.89738068A>C | NCI-TCGA |
rs1368450473 | p.Gln1077Pro | missense variant | - | NC_000010.11:g.89738071A>C | TOPMed |
rs762140094 | p.Ile1078Asn | missense variant | - | NC_000010.11:g.89738074T>A | ExAC,TOPMed,gnomAD |
rs765556365 | p.Leu1081Met | missense variant | - | NC_000010.11:g.89738082C>A | ExAC,gnomAD |
rs765556365 | p.Leu1081Val | missense variant | - | NC_000010.11:g.89738082C>G | ExAC,gnomAD |
rs1360557001 | p.Ile1085Thr | missense variant | - | NC_000010.11:g.89738095T>C | gnomAD |
rs1308948786 | p.Ile1085Val | missense variant | - | NC_000010.11:g.89738094A>G | gnomAD |
rs1224067292 | p.Glu1086Gly | missense variant | - | NC_000010.11:g.89738098A>G | gnomAD |
rs1263838173 | p.Gln1089Ter | stop gained | - | NC_000010.11:g.89738106C>T | gnomAD |
rs766927016 | p.Ala1090Thr | missense variant | - | NC_000010.11:g.89738109G>A | ExAC,gnomAD |
rs1196445111 | p.Val1092Ile | missense variant | - | NC_000010.11:g.89738115G>A | TOPMed,gnomAD |
rs1355725713 | p.Lys1093Glu | missense variant | - | NC_000010.11:g.89738118A>G | TOPMed |
rs142890695 | p.Tyr1095Phe | missense variant | - | NC_000010.11:g.89738125A>T | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Tyr1095Ter | stop gained | - | NC_000010.11:g.89738123_89738124insTAACTGTG | NCI-TCGA |
rs142890695 | p.Tyr1095Cys | missense variant | - | NC_000010.11:g.89738125A>G | ESP,ExAC,TOPMed,gnomAD |
rs973425017 | p.Lys1096Thr | missense variant | - | NC_000010.11:g.89738128A>C | TOPMed |
rs767799601 | p.Asn1099Lys | missense variant | - | NC_000010.11:g.89738138C>G | ExAC,TOPMed,gnomAD |
rs1379475423 | p.Asn1099Ile | missense variant | - | NC_000010.11:g.89738137A>T | gnomAD |
rs114371507 | p.Asn1100Ser | missense variant | - | NC_000010.11:g.89738140A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs114371507 | p.Asn1100Ile | missense variant | - | NC_000010.11:g.89738140A>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs78400882 | p.Leu1102Val | missense variant | - | NC_000010.11:g.89738145C>G | ExAC,TOPMed |
rs76057302 | p.Lys1103Asn | missense variant | - | NC_000010.11:g.89738150G>C | ExAC,gnomAD |
NCI-TCGA novel | p.Glu1104Asp | missense variant | - | NC_000010.11:g.89738153G>T | NCI-TCGA |
rs79579856 | p.Lys1105Arg | missense variant | - | NC_000010.11:g.89738155A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs779646473 | p.Gln1110Arg | missense variant | - | NC_000010.11:g.89738170A>G | ExAC,TOPMed,gnomAD |
rs1386362544 | p.Leu1113Ile | missense variant | - | NC_000010.11:g.89738178C>A | TOPMed |
COSM6130875 | p.Leu1113Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89738178C>G | NCI-TCGA Cosmic |
rs1310923650 | p.Leu1113Arg | missense variant | - | NC_000010.11:g.89738179T>G | gnomAD |
rs746735387 | p.Lys1115Glu | missense variant | - | NC_000010.11:g.89738184A>G | ExAC,gnomAD |
rs766853715 | p.Glu1116Gly | missense variant | - | NC_000010.11:g.89738188A>G | TOPMed,gnomAD |
COSM4826927 | p.Glu1118Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89738193G>C | NCI-TCGA Cosmic |
rs770185093 | p.Thr1119Ala | missense variant | - | NC_000010.11:g.89738196A>G | ExAC,gnomAD |
rs773394311 | p.Thr1119Ser | missense variant | - | NC_000010.11:g.89738197C>G | ExAC,gnomAD |
rs763383909 | p.Leu1120Val | missense variant | - | NC_000010.11:g.89738199C>G | ExAC,TOPMed,gnomAD |
rs368304916 | p.Ile1121Thr | missense variant | - | NC_000010.11:g.89738203T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs931445688 | p.Ile1121Leu | missense variant | - | NC_000010.11:g.89738202A>T | TOPMed,gnomAD |
rs147954246 | p.Ile1121Met | missense variant | - | NC_000010.11:g.89738204A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs368304916 | p.Ile1121Arg | missense variant | - | NC_000010.11:g.89738203T>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs767746356 | p.Gln1123Arg | missense variant | - | NC_000010.11:g.89738209A>G | ExAC,gnomAD |
rs752953055 | p.Leu1124Met | missense variant | - | NC_000010.11:g.89738211C>A | ExAC,gnomAD |
COSM289711 | p.Glu1126Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000010.11:g.89738217G>T | NCI-TCGA Cosmic |
rs11185863 | p.Glu1127Gln | missense variant | - | NC_000010.11:g.89738220G>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1301432885 | p.Leu1128Met | missense variant | - | NC_000010.11:g.89738223T>A | gnomAD |
rs1046481107 | p.Leu1128Trp | missense variant | - | NC_000010.11:g.89738224T>G | TOPMed,gnomAD |
rs904983259 | p.Gln1129Arg | missense variant | - | NC_000010.11:g.89738227A>G | TOPMed |
rs998507213 | p.Gln1129Ter | stop gained | - | NC_000010.11:g.89738226C>T | TOPMed,gnomAD |
rs778690180 | p.Glu1130Gly | missense variant | - | NC_000010.11:g.89738230A>G | ExAC,TOPMed,gnomAD |
rs750396763 | p.Glu1130Asp | missense variant | - | NC_000010.11:g.89738231A>T | ExAC,TOPMed,gnomAD |
rs757094581 | p.Glu1130Lys | missense variant | - | NC_000010.11:g.89738229G>A | ExAC |
rs141907832 | p.Lys1131Glu | missense variant | - | NC_000010.11:g.89738232A>G | 1000Genomes,ExAC,gnomAD |
rs1212021499 | p.Asn1132Tyr | missense variant | - | NC_000010.11:g.89738235A>T | gnomAD |
rs1002366189 | p.Asn1132Lys | missense variant | - | NC_000010.11:g.89738237T>A | TOPMed,gnomAD |
COSM1722154 | p.Asn1132MetPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000010.11:g.89738230A>- | NCI-TCGA Cosmic |
rs1232096793 | p.Asn1132Ser | missense variant | - | NC_000010.11:g.89738236A>G | TOPMed |
rs1053507629 | p.Thr1134Ile | missense variant | - | NC_000010.11:g.89738242C>T | TOPMed,gnomAD |
NCI-TCGA novel | p.Thr1134Asn | missense variant | - | NC_000010.11:g.89738242C>A | NCI-TCGA |
rs568672822 | p.Leu1135Pro | missense variant | - | NC_000010.11:g.89738245T>C | ExAC,gnomAD |
rs141950040 | p.Asp1136Asn | missense variant | - | NC_000010.11:g.89738247G>A | ESP,ExAC,TOPMed,gnomAD |
rs1192276884 | p.Ile1139Thr | missense variant | - | NC_000010.11:g.89738257T>C | gnomAD |
rs1366788261 | p.Ile1139Val | missense variant | - | NC_000010.11:g.89738256A>G | TOPMed |
COSM3807957 | p.Gln1140Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000010.11:g.89738259C>T | NCI-TCGA Cosmic |
rs148573019 | p.His1141Gln | missense variant | - | NC_000010.11:g.89738264T>G | ESP,ExAC,TOPMed,gnomAD |
rs1298110902 | p.His1141Asp | missense variant | - | NC_000010.11:g.89738262C>G | TOPMed |
rs144843486 | p.His1141Arg | missense variant | - | NC_000010.11:g.89738263A>G | ESP,ExAC,TOPMed,gnomAD |
rs1455802714 | p.Val1142Ile | missense variant | - | NC_000010.11:g.89738265G>A | gnomAD |
rs1416686417 | p.Val1142Ala | missense variant | - | NC_000010.11:g.89738266T>C | gnomAD |
rs760178295 | p.Lys1146Arg | missense variant | - | NC_000010.11:g.89738278A>G | ExAC,gnomAD |
rs772720230 | p.Arg1147Lys | missense variant | - | NC_000010.11:g.89738281G>A | ExAC,gnomAD |
rs1477839486 | p.Arg1147Ser | missense variant | - | NC_000010.11:g.89738282A>C | TOPMed |
rs775642819 | p.Ala1148Thr | missense variant | - | NC_000010.11:g.89738283G>A | ExAC,TOPMed,gnomAD |
rs117564945 | p.Ala1148Val | missense variant | - | NC_000010.11:g.89738284C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs761478881 | p.Leu1149Phe | missense variant | - | NC_000010.11:g.89738286C>T | ExAC,gnomAD |
COSM3397293 | p.Leu1152Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89738295C>A | NCI-TCGA Cosmic |
rs1026349230 | p.Thr1153Ile | missense variant | - | NC_000010.11:g.89738299C>T | TOPMed |
rs1026349230 | p.Thr1153Lys | missense variant | - | NC_000010.11:g.89738299C>A | TOPMed |
rs150657646 | p.Gln1154Arg | missense variant | - | NC_000010.11:g.89738302A>G | ESP,gnomAD |
rs1311459555 | p.Gly1155Arg | missense variant | - | NC_000010.11:g.89738304G>C | gnomAD |
COSM921323 | p.Val1156Ala | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89738308T>C | NCI-TCGA Cosmic |
rs373468932 | p.Thr1157Ile | missense variant | - | NC_000010.11:g.89738311C>T | ESP,TOPMed |
rs577918687 | p.Tyr1159Ser | missense variant | - | NC_000010.11:g.89738317A>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs577918687 | p.Tyr1159Cys | missense variant | - | NC_000010.11:g.89738317A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs557988714 | p.Tyr1159His | missense variant | - | NC_000010.11:g.89738316T>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs751032264 | p.Lys1160Glu | missense variant | - | NC_000010.11:g.89738319A>G | ExAC,gnomAD |
rs1246809989 | p.Lys1162Asn | missense variant | - | NC_000010.11:g.89738327A>T | gnomAD |
rs754539821 | p.Lys1162Glu | missense variant | - | NC_000010.11:g.89738325A>G | ExAC,gnomAD |
rs780688492 | p.Ile1163Val | missense variant | - | NC_000010.11:g.89738328A>G | ExAC,TOPMed,gnomAD |
rs1264594745 | p.Lys1164Arg | missense variant | - | NC_000010.11:g.89738332A>G | TOPMed |
NCI-TCGA novel | p.Glu1165Asp | missense variant | - | NC_000010.11:g.89738336A>C | NCI-TCGA |
rs747875200 | p.Glu1167Gln | missense variant | - | NC_000010.11:g.89738340G>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ile1169Leu | missense variant | - | NC_000010.11:g.89738346A>C | NCI-TCGA |
rs779361610 | p.Thr1172Ala | missense variant | - | NC_000010.11:g.89738355A>G | ExAC,gnomAD |
rs746239771 | p.Gln1173Arg | missense variant | - | NC_000010.11:g.89738359A>G | ExAC,TOPMed,gnomAD |
rs1886996 | p.Cys1177Ser | missense variant | - | NC_000010.11:g.89738370T>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1886996 | p.Cys1177Arg | missense variant | - | NC_000010.11:g.89738370T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs202221525 | p.Cys1177Tyr | missense variant | - | NC_000010.11:g.89738371G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs747034628 | p.His1179Tyr | missense variant | - | NC_000010.11:g.89738376C>T | ExAC,gnomAD |
rs747034628 | p.His1179Asn | missense variant | - | NC_000010.11:g.89738376C>A | ExAC,gnomAD |
rs1178839875 | p.His1179Gln | missense variant | - | NC_000010.11:g.89738378T>A | TOPMed |
rs776710112 | p.Ala1181Thr | missense variant | - | NC_000010.11:g.89738382G>A | ExAC,gnomAD |
rs762149860 | p.Glu1184Ala | missense variant | - | NC_000010.11:g.89738392A>C | ExAC,gnomAD |
NCI-TCGA novel | p.Glu1184Lys | missense variant | - | NC_000010.11:g.89738391G>A | NCI-TCGA |
rs147796970 | p.Gln1185Glu | missense variant | - | NC_000010.11:g.89738394C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1290070475 | p.Asp1186Glu | missense variant | - | NC_000010.11:g.89738399C>G | TOPMed,gnomAD |
rs772928928 | p.Lys1190Thr | missense variant | - | NC_000010.11:g.89738410A>C | ExAC,gnomAD |
rs766259228 | p.Glu1191Ala | missense variant | - | NC_000010.11:g.89738413A>C | ExAC,TOPMed,gnomAD |
rs762770718 | p.Glu1191Gln | missense variant | - | NC_000010.11:g.89738412G>C | ExAC,gnomAD |
NCI-TCGA novel | p.Glu1191Lys | missense variant | - | NC_000010.11:g.89738412G>A | NCI-TCGA |
rs375369186 | p.Ile1193Met | missense variant | - | NC_000010.11:g.89738420C>G | ESP,ExAC,TOPMed,gnomAD |
rs201445803 | p.Ile1193Val | missense variant | - | NC_000010.11:g.89738418A>G | TOPMed,gnomAD |
rs754417788 | p.Ile1194Val | missense variant | - | NC_000010.11:g.89738421A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Ile1194Thr | missense variant | - | NC_000010.11:g.89738422T>C | NCI-TCGA |
rs1164118371 | p.Leu1195Ile | missense variant | - | NC_000010.11:g.89738424T>A | TOPMed,gnomAD |
rs139497016 | p.Leu1197Pro | missense variant | - | NC_000010.11:g.89738431T>C | ESP,ExAC,gnomAD |
rs755760483 | p.Glu1198Asp | missense variant | - | NC_000010.11:g.89738435A>T | ExAC,gnomAD |
NCI-TCGA novel | p.Arg1199Lys | missense variant | - | NC_000010.11:g.89738437G>A | NCI-TCGA |
rs1447456206 | p.Asn1200Lys | missense variant | - | NC_000010.11:g.89738441T>G | gnomAD |
rs777598313 | p.Asn1200His | missense variant | - | NC_000010.11:g.89738439A>C | ExAC,gnomAD |
COSM3397295 | p.Asn1200Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89738439A>G | NCI-TCGA Cosmic |
rs1212079702 | p.Leu1201Ser | missense variant | - | NC_000010.11:g.89738443T>C | gnomAD |
rs746184816 | p.Lys1202Glu | missense variant | - | NC_000010.11:g.89738445A>G | ExAC,TOPMed,gnomAD |
rs758880025 | p.Lys1202Arg | missense variant | - | NC_000010.11:g.89738446A>G | ExAC,gnomAD |
COSM3441438 | p.Gln1205Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000010.11:g.89738454C>T | NCI-TCGA Cosmic |
rs780673592 | p.His1207Leu | missense variant | - | NC_000010.11:g.89738461A>T | ExAC,gnomAD |
rs777701651 | p.His1207Gln | missense variant | - | NC_000010.11:g.89738462T>G | TOPMed |
rs1215781303 | p.Leu1208Phe | missense variant | - | NC_000010.11:g.89738463C>T | TOPMed |
rs747614030 | p.Leu1208Pro | missense variant | - | NC_000010.11:g.89738464T>C | ExAC,TOPMed,gnomAD |
rs1471768031 | p.Gln1209Ter | stop gained | - | NC_000010.11:g.89738466C>T | gnomAD |
rs144980311 | p.Ser1211Pro | missense variant | - | NC_000010.11:g.89738472T>C | ESP,ExAC,TOPMed,gnomAD |
rs147115055 | p.Val1212Phe | missense variant | - | NC_000010.11:g.89738475G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs147115055 | p.Val1212Ile | missense variant | - | NC_000010.11:g.89738475G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs373055860 | p.Lys1213Arg | missense variant | - | NC_000010.11:g.89738479A>G | ESP,TOPMed,gnomAD |
rs1201088465 | p.Lys1213Gln | missense variant | - | NC_000010.11:g.89738478A>C | gnomAD |
COSM1638678 | p.Asn1214ThrPheSerTerUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000010.11:g.89738478A>- | NCI-TCGA Cosmic |
rs1457645691 | p.Asn1214Asp | missense variant | - | NC_000010.11:g.89738481A>G | TOPMed,gnomAD |
rs149103168 | p.Lys1216Glu | missense variant | - | NC_000010.11:g.89738487A>G | ESP,ExAC,TOPMed,gnomAD |
rs1168674673 | p.Lys1216Arg | missense variant | - | NC_000010.11:g.89738488A>G | TOPMed |
NCI-TCGA novel | p.Asp1217Tyr | missense variant | - | NC_000010.11:g.89738490G>T | NCI-TCGA |
rs762715615 | p.Asn1219Lys | missense variant | - | NC_000010.11:g.89738498T>A | ExAC |
rs1886997 | p.Asn1219Ser | missense variant | - | NC_000010.11:g.89738497A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1886997 | p.Asn1219Thr | missense variant | - | NC_000010.11:g.89738497A>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs770754356 | p.Val1220Ile | missense variant | - | NC_000010.11:g.89738499G>A | ExAC,gnomAD |
COSM3967209 | p.Leu1223Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89738508C>T | NCI-TCGA Cosmic |
rs767360842 | p.Lys1224Arg | missense variant | - | NC_000010.11:g.89738512A>G | ExAC,TOPMed,gnomAD |
rs151203510 | p.Leu1225Pro | missense variant | - | NC_000010.11:g.89738515T>C | ESP,TOPMed,gnomAD |
rs140341168 | p.Glu1227Val | missense variant | - | NC_000010.11:g.89738521A>T | ESP,ExAC,TOPMed,gnomAD |
COSM261661 | p.Glu1227Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000010.11:g.89738520G>T | NCI-TCGA Cosmic |
COSM4016545 | p.Glu1228Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000010.11:g.89738523G>T | NCI-TCGA Cosmic |
rs1445385468 | p.Ile1229Ser | missense variant | - | NC_000010.11:g.89738527T>G | gnomAD |
rs1235951315 | p.Ile1229Leu | missense variant | - | NC_000010.11:g.89738526A>C | TOPMed |
rs1437897090 | p.Gln1231Ter | stop gained | - | NC_000010.11:g.89738532C>T | TOPMed |
rs753582024 | p.Asn1235Ser | missense variant | - | NC_000010.11:g.89738545A>G | ExAC,gnomAD |
rs758828483 | p.Leu1236Phe | missense variant | - | NC_000010.11:g.89738549G>T | ExAC,gnomAD |
rs1411347324 | p.Gln1237Pro | missense variant | - | NC_000010.11:g.89738551A>C | gnomAD |
rs751880293 | p.Asp1238His | missense variant | - | NC_000010.11:g.89738553G>C | ExAC,gnomAD |
rs1330085204 | p.Met1239Lys | missense variant | - | NC_000010.11:g.89738557T>A | gnomAD |
rs755450200 | p.Met1239Ile | missense variant | - | NC_000010.11:g.89738558G>A | ExAC,gnomAD |
rs1440996054 | p.Lys1240Arg | missense variant | - | NC_000010.11:g.89738560A>G | gnomAD |
NCI-TCGA novel | p.Lys1240Thr | missense variant | - | NC_000010.11:g.89738560A>C | NCI-TCGA |
rs376561901 | p.His1241Arg | missense variant | - | NC_000010.11:g.89738563A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1357865631 | p.His1241Asp | missense variant | - | NC_000010.11:g.89738562C>G | TOPMed |
rs376561901 | p.His1241Pro | missense variant | - | NC_000010.11:g.89738563A>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs187783613 | p.Leu1242Ser | missense variant | - | NC_000010.11:g.89738566T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1274458736 | p.Leu1243Phe | missense variant | - | NC_000010.11:g.89738568C>T | gnomAD |
rs373556748 | p.Gln1244Pro | missense variant | - | NC_000010.11:g.89738572A>C | ESP,ExAC,TOPMed,gnomAD |
rs373556748 | p.Gln1244Arg | missense variant | - | NC_000010.11:g.89738572A>G | ESP,ExAC,TOPMed,gnomAD |
rs1461445982 | p.Gln1244His | missense variant | - | NC_000010.11:g.89738573A>C | gnomAD |
rs749579155 | p.Gln1244Lys | missense variant | - | NC_000010.11:g.89738571C>A | ExAC,gnomAD |
rs1009232296 | p.Leu1245Val | missense variant | - | NC_000010.11:g.89738574T>G | TOPMed,gnomAD |
NCI-TCGA novel | p.Leu1245Ile | missense variant | - | NC_000010.11:g.89738574T>A | NCI-TCGA |
COSM3985810 | p.Glu1247Ala | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89738581A>C | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Glu1250Ter | stop gained | - | NC_000010.11:g.89738589G>T | NCI-TCGA |
rs766729878 | p.GluThr1251GluLysTerTerLeuHisSerGluGluThrTerGlnIleProLeuTerUnk | stop gained | - | NC_000010.11:g.89738595_89738596insAATAATAACTTCATAGTGAAGAAACCTAGCAGATACCACTTTAA | ExAC,gnomAD |
rs775337894 | p.Asn1253Ser | missense variant | - | NC_000010.11:g.89738599A>G | ExAC,TOPMed,gnomAD |
rs760227696 | p.Asn1253Lys | missense variant | - | NC_000010.11:g.89738600C>A | ExAC,gnomAD |
rs375682004 | p.Arg1254Gly | missense variant | - | NC_000010.11:g.89738601A>G | ESP,ExAC,TOPMed,gnomAD |
rs1027047459 | p.Arg1254Lys | missense variant | - | NC_000010.11:g.89738602G>A | TOPMed |
rs1234625222 | p.Glu1258Val | missense variant | - | NC_000010.11:g.89738614A>T | gnomAD |
rs751914239 | p.Lys1259Glu | missense variant | - | NC_000010.11:g.89738616A>G | ExAC,gnomAD |
rs544410846 | p.Lys1261Arg | missense variant | - | NC_000010.11:g.89738963A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs544410846 | p.Lys1261Thr | missense variant | - | NC_000010.11:g.89738963A>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs756556741 | p.Glu1262Asp | missense variant | - | NC_000010.11:g.89738967G>C | ExAC,gnomAD |
rs1387906177 | p.Glu1262Gly | missense variant | - | NC_000010.11:g.89738966A>G | gnomAD |
rs1320996745 | p.Glu1263Gly | missense variant | - | NC_000010.11:g.89738969A>G | TOPMed |
NCI-TCGA novel | p.Ser1265Pro | missense variant | - | NC_000010.11:g.89738974T>C | NCI-TCGA |
rs753864053 | p.Ala1266Val | missense variant | - | NC_000010.11:g.89738978C>T | ExAC,TOPMed,gnomAD |
rs1306631899 | p.Ser1268Cys | missense variant | - | NC_000010.11:g.89738984C>G | gnomAD |
NCI-TCGA novel | p.Ser1268Phe | missense variant | - | NC_000010.11:g.89738984C>T | NCI-TCGA |
rs757329358 | p.Ala1269Val | missense variant | - | NC_000010.11:g.89738987C>T | ExAC,gnomAD |
rs779163740 | p.Arg1270Cys | missense variant | - | NC_000010.11:g.89738989C>T | ExAC,TOPMed,gnomAD |
rs746139748 | p.Arg1270His | missense variant | - | NC_000010.11:g.89738990G>A | ExAC,TOPMed,gnomAD |
rs746139748 | p.Arg1270Pro | missense variant | - | NC_000010.11:g.89738990G>C | ExAC,TOPMed,gnomAD |
rs1389252851 | p.Thr1271Ile | missense variant | - | NC_000010.11:g.89738993C>T | TOPMed |
rs779935159 | p.Gln1272His | missense variant | - | NC_000010.11:g.89738997G>C | ExAC,gnomAD |
rs1212993467 | p.Asn1273Ser | missense variant | - | NC_000010.11:g.89738999A>G | gnomAD |
rs771361517 | p.Leu1274Arg | missense variant | - | NC_000010.11:g.89739002T>G | ExAC,TOPMed,gnomAD |
rs1458967076 | p.Asp1277Gly | missense variant | - | NC_000010.11:g.89739011A>G | gnomAD |
rs1231115192 | p.Leu1278Arg | missense variant | - | NC_000010.11:g.89739014T>G | TOPMed,gnomAD |
rs768678283 | p.Leu1278Phe | missense variant | - | NC_000010.11:g.89739013C>T | ExAC,TOPMed,gnomAD |
rs768678283 | p.Leu1278Val | missense variant | - | NC_000010.11:g.89739013C>G | ExAC,TOPMed,gnomAD |
rs372651065 | p.Arg1280Ser | missense variant | - | NC_000010.11:g.89739021G>C | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Arg1280Met | missense variant | - | NC_000010.11:g.89739020G>T | NCI-TCGA |
COSM5215429 | p.Glu1282GlyPheSerTerUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000010.11:g.89739021_89739022insA | NCI-TCGA Cosmic |
rs1166413600 | p.Glu1283Ter | stop gained | - | NC_000010.11:g.89739028G>T | gnomAD |
rs1460408712 | p.Asp1284Glu | missense variant | - | NC_000010.11:g.89739033T>A | gnomAD |
rs1172101419 | p.Tyr1285His | missense variant | - | NC_000010.11:g.89739034T>C | gnomAD |
rs1403068630 | p.Ala1286Val | missense variant | - | NC_000010.11:g.89739038C>T | gnomAD |
rs150394796 | p.Asp1287Asn | missense variant | - | NC_000010.11:g.89739040G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1380285102 | p.Asp1287Gly | missense variant | - | NC_000010.11:g.89739041A>G | gnomAD |
rs267602617 | p.Lys1289Thr | missense variant | - | NC_000010.11:g.89739047A>C | TOPMed |
rs267602617 | p.Lys1289Arg | missense variant | - | NC_000010.11:g.89739047A>G | TOPMed |
rs36109527 | p.Glu1290Asp | missense variant | - | NC_000010.11:g.89739051G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs529232609 | p.Thr1293Ser | missense variant | - | NC_000010.11:g.89739059C>G | 1000Genomes,ExAC,gnomAD |
rs1250575318 | p.Lys1296Glu | missense variant | - | NC_000010.11:g.89739067A>G | gnomAD |
rs754382351 | p.Lys1296Arg | missense variant | - | NC_000010.11:g.89739068A>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Val1302Ala | missense variant | - | NC_000010.11:g.89739086T>C | NCI-TCGA |
rs1196415519 | p.Lys1304Glu | missense variant | - | NC_000010.11:g.89739091A>G | TOPMed |
COSM1968989 | p.Val1306Ala | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89743809T>C | NCI-TCGA Cosmic |
COSM1968987 | p.Val1306Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89743808G>A | NCI-TCGA Cosmic |
rs1439908192 | p.Ser1307Cys | missense variant | - | NC_000010.11:g.89743812C>G | TOPMed |
rs144377752 | p.Arg1310His | missense variant | - | NC_000010.11:g.89743821G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs376129504 | p.Arg1310Cys | missense variant | - | NC_000010.11:g.89743820C>T | ESP,ExAC,TOPMed,gnomAD |
rs1467271666 | p.Asp1311Glu | missense variant | - | NC_000010.11:g.89743825T>A | TOPMed |
rs769075368 | p.Asp1311Gly | missense variant | - | NC_000010.11:g.89743824A>G | ExAC,gnomAD |
rs1174355559 | p.Asp1313Gly | missense variant | - | NC_000010.11:g.89743830A>G | gnomAD |
rs777106636 | p.Lys1314Glu | missense variant | - | NC_000010.11:g.89743832A>G | ExAC,gnomAD |
rs943745143 | p.Leu1316Pro | missense variant | - | NC_000010.11:g.89743839T>C | TOPMed,gnomAD |
rs1300215121 | p.Arg1317Thr | missense variant | - | NC_000010.11:g.89743842G>C | gnomAD |
rs140968638 | p.Ile1320Thr | missense variant | - | NC_000010.11:g.89743851T>C | ESP,ExAC,TOPMed,gnomAD |
rs140968638 | p.Ile1320Ser | missense variant | - | NC_000010.11:g.89743851T>G | ESP,ExAC,TOPMed,gnomAD |
rs1258689947 | p.Asn1321Ser | missense variant | - | NC_000010.11:g.89743854A>G | TOPMed |
rs1288275610 | p.Glu1322Ter | stop gained | - | NC_000010.11:g.89743856G>T | gnomAD |
rs543007275 | p.Glu1324Asp | missense variant | - | NC_000010.11:g.89743864G>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs750426962 | p.Glu1324Lys | missense variant | - | NC_000010.11:g.89743862G>A | ExAC,gnomAD |
rs1346809088 | p.Lys1326Asn | missense variant | - | NC_000010.11:g.89743870G>C | gnomAD |
rs751875487 | p.Asn1328Lys | missense variant | - | NC_000010.11:g.89743876C>A | ExAC,TOPMed,gnomAD |
rs766688685 | p.Asn1328Ser | missense variant | - | NC_000010.11:g.89743875A>G | ExAC,TOPMed,gnomAD |
rs754819247 | p.Ser1331Phe | missense variant | - | NC_000010.11:g.89743884C>T | ExAC,gnomAD |
COSM4016547 | p.Glu1333Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89743891A>T | NCI-TCGA Cosmic |
rs143200257 | p.Asp1335Asn | missense variant | - | NC_000010.11:g.89743895G>A | ESP,ExAC,TOPMed,gnomAD |
rs143200257 | p.Asp1335His | missense variant | - | NC_000010.11:g.89743895G>C | ESP,ExAC,TOPMed,gnomAD |
rs1322007971 | p.Met1336Thr | missense variant | - | NC_000010.11:g.89743899T>C | TOPMed |
rs1232292908 | p.Met1336Val | missense variant | - | NC_000010.11:g.89743898A>G | TOPMed |
rs777798374 | p.Arg1339Gln | missense variant | - | NC_000010.11:g.89743908G>A | ExAC,TOPMed,gnomAD |
rs1340241633 | p.Arg1339Ter | stop gained | - | NC_000010.11:g.89743907C>T | gnomAD |
rs777798374 | p.Arg1339Leu | missense variant | - | NC_000010.11:g.89743908G>T | ExAC,TOPMed,gnomAD |
rs778333569 | p.Glu1346Ala | missense variant | - | NC_000010.11:g.89745900A>C | ExAC,gnomAD |
rs1227183188 | p.Asn1350Tyr | missense variant | - | NC_000010.11:g.89745911A>T | TOPMed |
NCI-TCGA novel | p.Gln1351Glu | missense variant | - | NC_000010.11:g.89745914C>G | NCI-TCGA |
rs758003194 | p.Glu1354Lys | missense variant | - | NC_000010.11:g.89745923G>A | ExAC,TOPMed,gnomAD |
rs1230912039 | p.Gln1358Pro | missense variant | - | NC_000010.11:g.89745936A>C | gnomAD |
rs748442622 | p.Gln1359His | missense variant | - | NC_000010.11:g.89745940G>C | ExAC,TOPMed,gnomAD |
rs770237957 | p.Tyr1360Cys | missense variant | - | NC_000010.11:g.89745942A>G | ExAC,TOPMed,gnomAD |
rs770237957 | p.Tyr1360Phe | missense variant | - | NC_000010.11:g.89745942A>T | ExAC,TOPMed,gnomAD |
rs1437541031 | p.Glu1361Gly | missense variant | - | NC_000010.11:g.89745945A>G | TOPMed,gnomAD |
COSM921325 | p.Glu1361Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89745946G>T | NCI-TCGA Cosmic |
rs1437541031 | p.Glu1361Ala | missense variant | - | NC_000010.11:g.89745945A>C | TOPMed,gnomAD |
rs774506122 | p.Ala1363Gly | missense variant | - | NC_000010.11:g.89745951C>G | ExAC,gnomAD |
rs759723028 | p.Lys1365Arg | missense variant | - | NC_000010.11:g.89745957A>G | ExAC,TOPMed,gnomAD |
rs775560493 | p.Asp1366Gly | missense variant | - | NC_000010.11:g.89751346A>G | ExAC,gnomAD |
rs775560493 | p.Asp1366Val | missense variant | - | NC_000010.11:g.89751346A>T | ExAC,gnomAD |
rs1404792604 | p.Glu1371Asp | missense variant | - | NC_000010.11:g.89751362G>C | TOPMed |
rs370361159 | p.Lys1372Glu | missense variant | - | NC_000010.11:g.89751363A>G | 1000Genomes,ExAC,gnomAD |
rs776366561 | p.Met1377Leu | missense variant | - | NC_000010.11:g.89751378A>T | ExAC,gnomAD |
rs150940648 | p.Met1377Thr | missense variant | - | NC_000010.11:g.89751379T>C | ESP,ExAC,TOPMed,gnomAD |
rs765135484 | p.Met1377Ile | missense variant | - | NC_000010.11:g.89751380G>A | ExAC,gnomAD |
rs750403068 | p.Arg1378Leu | missense variant | - | NC_000010.11:g.89751382G>T | ExAC,TOPMed,gnomAD |
rs1306111010 | p.Arg1378Ter | stop gained | - | NC_000010.11:g.89751381C>T | gnomAD |
rs750403068 | p.Arg1378Gln | missense variant | - | NC_000010.11:g.89751382G>A | ExAC,TOPMed,gnomAD |
rs1237866184 | p.Thr1380Ile | missense variant | - | NC_000010.11:g.89751388C>T | TOPMed |
COSM1321984 | p.Gln1384Glu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89751399C>G | NCI-TCGA Cosmic |
rs1203448954 | p.Gln1384Arg | missense variant | - | NC_000010.11:g.89751400A>G | TOPMed,gnomAD |
rs751049331 | p.Glu1385Lys | missense variant | - | NC_000010.11:g.89751402G>A | ExAC,gnomAD |
rs1446391403 | p.Glu1385Val | missense variant | - | NC_000010.11:g.89751403A>T | gnomAD |
COSM921326 | p.Glu1385Gly | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89751403A>G | NCI-TCGA Cosmic |
rs780739656 | p.Gln1386Arg | missense variant | - | NC_000010.11:g.89751406A>G | ExAC,gnomAD |
rs754207898 | p.Thr1387Ile | missense variant | - | NC_000010.11:g.89751409C>T | ExAC |
rs1172688767 | p.Gln1388His | missense variant | - | NC_000010.11:g.89751413G>C | gnomAD |
rs375828767 | p.Gln1388Arg | missense variant | - | NC_000010.11:g.89751412A>G | ESP,ExAC,TOPMed,gnomAD |
rs779556551 | p.Val1389Ala | missense variant | - | NC_000010.11:g.89751415T>C | ExAC,gnomAD |
COSM921327 | p.Val1389Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89751414G>A | NCI-TCGA Cosmic |
rs746434011 | p.Gln1393Glu | missense variant | - | NC_000010.11:g.89751426C>G | ExAC,gnomAD |
rs772469205 | p.Val1394Leu | missense variant | - | NC_000010.11:g.89751429G>T | ExAC,gnomAD |
rs139452485 | p.Lys1398Gln | missense variant | - | NC_000010.11:g.89751441A>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1320548991 | p.Lys1398Arg | missense variant | - | NC_000010.11:g.89751442A>G | TOPMed |
rs747085766 | p.Leu1399Ser | missense variant | - | NC_000010.11:g.89751445T>C | ExAC,gnomAD |
rs1289971285 | p.Glu1400Gly | missense variant | - | NC_000010.11:g.89751448A>G | TOPMed |
rs1369333142 | p.Glu1400Gln | missense variant | - | NC_000010.11:g.89751447G>C | gnomAD |
rs1440616973 | p.Glu1400Asp | missense variant | - | NC_000010.11:g.89751449G>C | gnomAD |
rs370697647 | p.Val1402Ile | missense variant | - | NC_000010.11:g.89751453G>A | TOPMed |
rs370697647 | p.Val1402Phe | missense variant | - | NC_000010.11:g.89751453G>T | TOPMed |
rs1255364243 | p.Leu1405Arg | missense variant | - | NC_000010.11:g.89751463T>G | TOPMed,gnomAD |
rs1308160386 | p.Ala1406Gly | missense variant | - | NC_000010.11:g.89751466C>G | TOPMed |
rs768871419 | p.Ala1406Pro | missense variant | - | NC_000010.11:g.89751465G>C | ExAC,gnomAD |
rs776884271 | p.Thr1407Ala | missense variant | - | NC_000010.11:g.89751468A>G | ExAC,gnomAD |
rs761563097 | p.Thr1407Ile | missense variant | - | NC_000010.11:g.89751469C>T | ExAC,gnomAD |
rs562653854 | p.Glu1408Gln | missense variant | - | NC_000010.11:g.89751471G>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1249368634 | p.Glu1410Asp | missense variant | - | NC_000010.11:g.89752574A>C | TOPMed,gnomAD |
rs1423940708 | p.Trp1412Ter | stop gained | - | NC_000010.11:g.89752579G>A | TOPMed,gnomAD |
rs149758232 | p.Glu1414Lys | missense variant | - | NC_000010.11:g.89752584G>A | ExAC,TOPMed,gnomAD |
rs781390219 | p.Cys1416Trp | missense variant | - | NC_000010.11:g.89752592C>G | ExAC,gnomAD |
rs1171937429 | p.Asn1417Asp | missense variant | - | NC_000010.11:g.89752593A>G | gnomAD |
rs551478794 | p.Asn1417Ser | missense variant | - | NC_000010.11:g.89752594A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1297867462 | p.Thr1421Ile | missense variant | - | NC_000010.11:g.89752606C>T | gnomAD |
rs772928845 | p.Asn1424Tyr | missense variant | - | NC_000010.11:g.89752614A>T | ExAC,gnomAD |
NCI-TCGA novel | p.Asn1424Ser | missense variant | - | NC_000010.11:g.89752615A>G | NCI-TCGA |
rs762687954 | p.Arg1426Lys | missense variant | - | NC_000010.11:g.89752621G>A | ExAC,gnomAD |
rs145617702 | p.Arg1426Ser | missense variant | - | NC_000010.11:g.89752622G>T | ESP,ExAC |
rs759057746 | p.His1431Tyr | missense variant | - | NC_000010.11:g.89752635C>T | ExAC,TOPMed,gnomAD |
rs140347341 | p.Asn1433Lys | missense variant | - | NC_000010.11:g.89752643C>A | ESP,TOPMed,gnomAD |
NCI-TCGA novel | p.Asn1433Asp | missense variant | - | NC_000010.11:g.89752641A>G | NCI-TCGA |
rs145399222 | p.Val1437Leu | missense variant | - | NC_000010.11:g.89752653G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
COSM921328 | p.Val1437Met | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89752653G>A | NCI-TCGA Cosmic |
rs775151933 | p.Lys1440Gln | missense variant | - | NC_000010.11:g.89752662A>C | ExAC,gnomAD |
rs1250455536 | p.Thr1442Ala | missense variant | - | NC_000010.11:g.89752668A>G | gnomAD |
rs763870025 | p.Asn1443Asp | missense variant | - | NC_000010.11:g.89752671A>G | ExAC,TOPMed,gnomAD |
rs1212522045 | p.Gln1445Leu | missense variant | - | NC_000010.11:g.89752678A>T | gnomAD |
rs1254794348 | p.Asp1446Val | missense variant | - | NC_000010.11:g.89752681A>T | gnomAD |
rs181525895 | p.Leu1448Ile | missense variant | - | NC_000010.11:g.89752686T>A | 1000Genomes,ExAC,gnomAD |
rs374333263 | p.Gln1449Ter | stop gained | - | NC_000010.11:g.89752689C>T | ESP,ExAC,TOPMed,gnomAD |
rs374333263 | p.Gln1449Glu | missense variant | - | NC_000010.11:g.89752689C>G | ESP,ExAC,TOPMed,gnomAD |
rs1371544083 | p.Glu1452Gln | missense variant | - | NC_000010.11:g.89754524G>C | gnomAD |
rs751627130 | p.LysTyrAsn1454LysTerUnk | stop gained | - | NC_000010.11:g.89754535_89754536del | ExAC,TOPMed,gnomAD |
rs1223945190 | p.Asn1456Ser | missense variant | - | NC_000010.11:g.89754537A>G | gnomAD |
rs1328374349 | p.Asn1456Asp | missense variant | - | NC_000010.11:g.89754536A>G | TOPMed |
NCI-TCGA novel | p.Ala1457Ser | missense variant | - | NC_000010.11:g.89754539G>T | NCI-TCGA |
rs372851514 | p.Asp1458Gly | missense variant | - | NC_000010.11:g.89754543A>G | ESP,ExAC,TOPMed,gnomAD |
rs1480730059 | p.Asp1458Asn | missense variant | - | NC_000010.11:g.89754542G>A | gnomAD |
rs1162022656 | p.Arg1459Lys | missense variant | - | NC_000010.11:g.89754546G>A | TOPMed |
COSM4696003 | p.Lys1460Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89754550G>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Lys1460Glu | missense variant | - | NC_000010.11:g.89754548A>G | NCI-TCGA |
rs1470146329 | p.Lys1461Thr | missense variant | - | NC_000010.11:g.89754552A>C | gnomAD |
rs1386359342 | p.Lys1461Glu | missense variant | - | NC_000010.11:g.89754551A>G | TOPMed |
rs775618151 | p.Trp1462Ter | stop gained | - | NC_000010.11:g.89754556G>A | ExAC,gnomAD |
rs1470650025 | p.Glu1464Gly | missense variant | - | NC_000010.11:g.89754561A>G | gnomAD |
rs375746203 | p.Glu1465Gly | missense variant | - | NC_000010.11:g.89754564A>G | ESP,ExAC,TOPMed,gnomAD |
rs768347589 | p.Lys1466Glu | missense variant | - | NC_000010.11:g.89754566A>G | ExAC,TOPMed,gnomAD |
rs776330910 | p.Lys1466Arg | missense variant | - | NC_000010.11:g.89754567A>G | ExAC,gnomAD |
rs761315179 | p.Met1467Leu | missense variant | - | NC_000010.11:g.89754569A>C | ExAC,gnomAD |
NCI-TCGA novel | p.Met1467Ter | frameshift | - | NC_000010.11:g.89754564A>- | NCI-TCGA |
rs1462911101 | p.Met1468Val | missense variant | - | NC_000010.11:g.89754572A>G | gnomAD |
rs769492969 | p.Leu1469Val | missense variant | - | NC_000010.11:g.89754575C>G | ExAC |
rs759915981 | p.Thr1471Pro | missense variant | - | NC_000010.11:g.89754581A>C | ExAC,gnomAD |
rs369170052 | p.Gln1472Glu | missense variant | - | NC_000010.11:g.89754584C>G | ESP,ExAC,TOPMed,gnomAD |
rs372720193 | p.Gln1472His | missense variant | - | NC_000010.11:g.89754586A>T | ESP,ExAC,TOPMed,gnomAD |
rs753954878 | p.Ala1473Val | missense variant | - | NC_000010.11:g.89754588C>T | ExAC,TOPMed,gnomAD |
rs764140726 | p.Ala1473Thr | missense variant | - | NC_000010.11:g.89754587G>A | ExAC,TOPMed,gnomAD |
rs1024977291 | p.Lys1474Glu | missense variant | - | NC_000010.11:g.89754590A>G | TOPMed,gnomAD |
rs1272964199 | p.Ala1476Thr | missense variant | - | NC_000010.11:g.89754596G>A | gnomAD |
rs1356535476 | p.Asn1478Thr | missense variant | - | NC_000010.11:g.89754603A>C | TOPMed,gnomAD |
rs757378200 | p.Ile1479Thr | missense variant | - | NC_000010.11:g.89754606T>C | ExAC,TOPMed,gnomAD |
rs1443182066 | p.Ile1479Val | missense variant | - | NC_000010.11:g.89754605A>G | gnomAD |
rs757378200 | p.Ile1479Lys | missense variant | - | NC_000010.11:g.89754606T>A | ExAC,TOPMed,gnomAD |
rs750217355 | p.Arg1480Gln | missense variant | - | NC_000010.11:g.89754609G>A | ExAC,TOPMed,gnomAD |
rs376548512 | p.Arg1480Ter | stop gained | - | NC_000010.11:g.89754608C>T | ESP,ExAC,gnomAD |
rs574289755 | p.Asn1481Ser | missense variant | - | NC_000010.11:g.89754612A>G | 1000Genomes,ExAC,gnomAD |
rs1469736437 | p.Asn1481Tyr | missense variant | - | NC_000010.11:g.89754611A>T | TOPMed,gnomAD |
rs1420048982 | p.Met1484Thr | missense variant | - | NC_000010.11:g.89754621T>C | gnomAD |
rs979748115 | p.Lys1486Asn | missense variant | - | NC_000010.11:g.89754628A>T | TOPMed |
rs926935231 | p.Tyr1487Phe | missense variant | - | NC_000010.11:g.89754630A>T | TOPMed |
rs369338310 | p.Tyr1487Ter | stop gained | - | NC_000010.11:g.89754631T>G | ESP,ExAC,TOPMed,gnomAD |
rs1389830656 | p.Ala1488Thr | missense variant | - | NC_000010.11:g.89754632G>A | gnomAD |
rs1293078823 | p.Asp1490Val | missense variant | - | NC_000010.11:g.89754639A>T | gnomAD |
rs1330526853 | p.Glu1492Gln | missense variant | - | NC_000010.11:g.89754644G>C | gnomAD |
rs768653134 | p.Arg1493Cys | missense variant | - | NC_000010.11:g.89754647C>T | ExAC,TOPMed,gnomAD |
rs763688811 | p.Arg1493His | missense variant | - | NC_000010.11:g.89754648G>A | TOPMed |
rs755841488 | p.Phe1495LeuPheSerTerUnkUnk | frameshift | - | NC_000010.11:g.89754649T>- | NCI-TCGA,NCI-TCGA Cosmic |
rs1304082399 | p.Phe1495Leu | missense variant | - | NC_000010.11:g.89754655T>A | gnomAD |
rs779958420 | p.Lys1496Ter | frameshift | - | NC_000010.11:g.89754648_89754649insT | NCI-TCGA |
rs1341306872 | p.Gln1497Glu | missense variant | - | NC_000010.11:g.89754659C>G | gnomAD |
rs1312985982 | p.Gln1497Pro | missense variant | - | NC_000010.11:g.89754660A>C | gnomAD |
rs191471368 | p.Asn1499Ser | missense variant | - | NC_000010.11:g.89754666A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs747725874 | p.Glu1500Lys | missense variant | - | NC_000010.11:g.89754668G>A | ExAC,TOPMed,gnomAD |
rs1433457970 | p.Glu1502Lys | missense variant | - | NC_000010.11:g.89758706G>A | gnomAD |
rs751407460 | p.Leu1504Pro | missense variant | - | NC_000010.11:g.89758713T>C | ExAC,TOPMed,gnomAD |
rs373622507 | p.Thr1505Ala | missense variant | - | NC_000010.11:g.89758715A>G | ESP,ExAC,TOPMed,gnomAD |
rs781212813 | p.Ala1506Ser | missense variant | - | NC_000010.11:g.89758718G>T | ExAC,gnomAD |
rs747590327 | p.Gln1507His | missense variant | - | NC_000010.11:g.89758723G>T | ExAC,gnomAD |
rs1263237328 | p.Asp1512Gly | missense variant | - | NC_000010.11:g.89758737A>G | gnomAD |
rs769390762 | p.Ser1513Gly | missense variant | - | NC_000010.11:g.89758739A>G | ExAC,TOPMed,gnomAD |
rs543186692 | p.Leu1515Phe | missense variant | - | NC_000010.11:g.89758745C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs543186692 | p.Leu1515Val | missense variant | - | NC_000010.11:g.89758745C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs749002204 | p.Arg1519Gln | missense variant | - | NC_000010.11:g.89758758G>A | ExAC,TOPMed,gnomAD |
rs1195171569 | p.Glu1520Ala | missense variant | - | NC_000010.11:g.89758761A>C | gnomAD |
rs377664920 | p.Glu1520Gln | missense variant | - | NC_000010.11:g.89758760G>C | ESP,TOPMed |
rs1254215373 | p.Glu1521Gly | missense variant | - | NC_000010.11:g.89758764A>G | TOPMed,gnomAD |
rs1193663750 | p.Glu1521Gln | missense variant | - | NC_000010.11:g.89758763G>C | TOPMed,gnomAD |
rs770586475 | p.Arg1522Gln | missense variant | - | NC_000010.11:g.89758767G>A | ExAC,gnomAD |
rs1249853998 | p.Ala1527Val | missense variant | - | NC_000010.11:g.89758782C>T | TOPMed |
rs1396486267 | p.Glu1530Lys | missense variant | - | NC_000010.11:g.89758790G>A | gnomAD |
rs747420235 | p.Gln1532Glu | missense variant | - | NC_000010.11:g.89758796C>G | ExAC,TOPMed,gnomAD |
rs769017488 | p.Leu1536Pro | missense variant | - | NC_000010.11:g.89758809T>C | ExAC,gnomAD |
rs777231047 | p.Ile1537Leu | missense variant | - | NC_000010.11:g.89758811A>C | ExAC,TOPMed,gnomAD |
rs1422085097 | p.Asn1540Ser | missense variant | - | NC_000010.11:g.89758821A>G | gnomAD |
rs984746275 | p.Val1541Ile | missense variant | - | NC_000010.11:g.89758823G>A | TOPMed |
rs1442063256 | p.Gln1542Ter | stop gained | - | NC_000010.11:g.89758826C>T | gnomAD |
rs566396878 | p.Lys1543Arg | missense variant | - | NC_000010.11:g.89758830A>G | gnomAD |
NCI-TCGA novel | p.Asp1544GluPheSerTerUnk | frameshift | - | NC_000010.11:g.89758833_89758839ATAATGA>- | NCI-TCGA |
rs1232743418 | p.Asn1545Lys | missense variant | - | NC_000010.11:g.89758837T>G | gnomAD |
NCI-TCGA novel | p.Glu1546Asp | missense variant | - | NC_000010.11:g.89758840A>C | NCI-TCGA |
NCI-TCGA novel | p.Glu1546Lys | missense variant | - | NC_000010.11:g.89758838G>A | NCI-TCGA |
NCI-TCGA novel | p.Ile1547Met | missense variant | - | NC_000010.11:g.89758843T>G | NCI-TCGA |
rs761795134 | p.Arg1552Ser | missense variant | - | NC_000010.11:g.89758858G>T | ExAC |
NCI-TCGA novel | p.Arg1552GlyPheSerTerUnk | frameshift | - | NC_000010.11:g.89758852A>- | NCI-TCGA |
rs1036171550 | p.Ile1554Met | missense variant | - | NC_000010.11:g.89758864A>G | gnomAD |
rs146822498 | p.Ile1554Thr | missense variant | - | NC_000010.11:g.89758863T>C | ESP,ExAC,TOPMed,gnomAD |
COSM3441440 | p.Ser1558Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89758875C>T | NCI-TCGA Cosmic |
rs1254606678 | p.Ser1558Cys | missense variant | - | NC_000010.11:g.89758875C>G | gnomAD |
rs34785987 | p.Ile1560Thr | missense variant | - | NC_000010.11:g.89758881T>C | 1000Genomes,ESP,TOPMed |
rs748629781 | p.Thr1562Ile | missense variant | - | NC_000010.11:g.89760530C>T | ExAC,TOPMed,gnomAD |
rs777360606 | p.Gln1563Arg | missense variant | - | NC_000010.11:g.89760533A>G | ExAC,gnomAD |
rs777360606 | p.Gln1563Pro | missense variant | - | NC_000010.11:g.89760533A>C | ExAC,gnomAD |
rs763150244 | p.Ile1564Thr | missense variant | - | NC_000010.11:g.89760536T>C | ExAC,gnomAD |
rs773387834 | p.Ile1564Val | missense variant | - | NC_000010.11:g.89760535A>G | ExAC,gnomAD |
rs774674676 | p.Met1565Val | missense variant | - | NC_000010.11:g.89760538A>G | ExAC,gnomAD |
rs767407693 | p.Asp1566Gly | missense variant | - | NC_000010.11:g.89760542A>G | ExAC,gnomAD |
rs200556371 | p.Asp1566Tyr | missense variant | - | NC_000010.11:g.89760541G>T | 1000Genomes,ExAC,gnomAD |
rs143700194 | p.Ile1567Val | missense variant | - | NC_000010.11:g.89760544A>G | ESP,ExAC,gnomAD |
rs1243751032 | p.Lys1570Gln | missense variant | - | NC_000010.11:g.89760553A>C | gnomAD |
rs753320982 | p.Arg1571His | missense variant | - | NC_000010.11:g.89760557G>A | ExAC,TOPMed,gnomAD |
rs764038459 | p.Arg1571Cys | missense variant | - | NC_000010.11:g.89760556C>T | ExAC,TOPMed,gnomAD |
rs756795355 | p.Ser1574Pro | missense variant | - | NC_000010.11:g.89760565T>C | ExAC,TOPMed,gnomAD |
rs778528212 | p.Ser1574Leu | missense variant | - | NC_000010.11:g.89760566C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Asp1576Tyr | missense variant | - | NC_000010.11:g.89760571G>T | NCI-TCGA |
rs1485711702 | p.Pro1577Arg | missense variant | - | NC_000010.11:g.89760575C>G | gnomAD |
rs371471387 | p.Asp1578Gly | missense variant | - | NC_000010.11:g.89760578A>G | ESP,ExAC,TOPMed |
rs1190772602 | p.Asp1578Glu | missense variant | - | NC_000010.11:g.89760579C>G | gnomAD |
rs567515372 | p.Lys1579Gln | missense variant | - | NC_000010.11:g.89760580A>C | 1000Genomes |
rs1400076532 | p.Leu1580Phe | missense variant | - | NC_000010.11:g.89760583C>T | TOPMed |
rs1171719423 | p.Thr1582Ile | missense variant | - | NC_000010.11:g.89760590C>T | TOPMed |
NCI-TCGA novel | p.Leu1585Pro | missense variant | - | NC_000010.11:g.89760599T>C | NCI-TCGA |
rs748491739 | p.Ser1586Leu | missense variant | - | NC_000010.11:g.89760602C>T | ExAC,TOPMed,gnomAD |
rs117258675 | p.Phe1589Tyr | missense variant | - | NC_000010.11:g.89760611T>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Glu1590Val | missense variant | - | NC_000010.11:g.89760614A>T | NCI-TCGA |
rs749349671 | p.Asn1594Lys | missense variant | - | NC_000010.11:g.89760627T>G | ExAC,TOPMed,gnomAD |
rs771205502 | p.Ile1596Leu | missense variant | - | NC_000010.11:g.89760631A>C | ExAC,gnomAD |
rs768494378 | p.Asp1598Val | missense variant | - | NC_000010.11:g.89762639A>T | ExAC,gnomAD |
rs768494378 | p.Asp1598Gly | missense variant | - | NC_000010.11:g.89762639A>G | ExAC,gnomAD |
rs952018066 | p.Val1601Ile | missense variant | - | NC_000010.11:g.89762647G>A | TOPMed,gnomAD |
rs140933422 | p.Val1601Ala | missense variant | - | NC_000010.11:g.89762648T>C | ESP,ExAC,TOPMed,gnomAD |
rs765115896 | p.Leu1603Phe | missense variant | - | NC_000010.11:g.89762653C>T | ExAC,gnomAD |
rs764084518 | p.Asp1604Val | missense variant | - | NC_000010.11:g.89762657A>T | ExAC,TOPMed,gnomAD |
rs1253967842 | p.Cys1606Trp | missense variant | - | NC_000010.11:g.89762664T>G | TOPMed,gnomAD |
rs1269940217 | p.Glu1611Lys | missense variant | - | NC_000010.11:g.89762677G>A | TOPMed |
rs1455756231 | p.Asn1612Asp | missense variant | - | NC_000010.11:g.89762680A>G | gnomAD |
rs1424629660 | p.Gln1614His | missense variant | - | NC_000010.11:g.89762688A>C | gnomAD |
rs751324087 | p.Gln1614Arg | missense variant | - | NC_000010.11:g.89762687A>G | ExAC,gnomAD |
rs1159808784 | p.Arg1617Ter | stop gained | - | NC_000010.11:g.89762695C>T | TOPMed,gnomAD |
rs756536781 | p.Arg1617Gln | missense variant | - | NC_000010.11:g.89762696G>A | ExAC,TOPMed,gnomAD |
rs982597098 | p.Pro1619Arg | missense variant | - | NC_000010.11:g.89762702C>G | gnomAD |
COSM4929221 | p.Ile1625Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89762719A>G | NCI-TCGA Cosmic |
rs142595855 | p.Gln1626His | missense variant | - | NC_000010.11:g.89762724A>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1394878786 | p.Gln1631Ter | stop gained | - | NC_000010.11:g.89762737C>T | gnomAD |
rs1272716608 | p.Pro1632Ala | missense variant | - | NC_000010.11:g.89762740C>G | gnomAD |
rs1272716608 | p.Pro1632Ser | missense variant | - | NC_000010.11:g.89762740C>T | gnomAD |
rs757801434 | p.Asn1633Asp | missense variant | - | NC_000010.11:g.89762743A>G | ExAC,gnomAD |
rs984762974 | p.Asn1633Ile | missense variant | - | NC_000010.11:g.89762744A>T | TOPMed,gnomAD |
rs984762974 | p.Asn1633Ser | missense variant | - | NC_000010.11:g.89762744A>G | TOPMed,gnomAD |
rs373911396 | p.Lys1634Glu | missense variant | - | NC_000010.11:g.89762746A>G | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Lys1634Arg | missense variant | - | NC_000010.11:g.89762747A>G | NCI-TCGA |
rs758470528 | p.Met1635Arg | missense variant | - | NC_000010.11:g.89762750T>G | ExAC,TOPMed,gnomAD |
rs745927589 | p.Met1635Val | missense variant | - | NC_000010.11:g.89762749A>G | ExAC,gnomAD |
rs758470528 | p.Met1635Thr | missense variant | - | NC_000010.11:g.89762750T>C | ExAC,TOPMed,gnomAD |
rs201324774 | p.Ala1636Ser | missense variant | - | NC_000010.11:g.89762752G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs201324774 | p.Ala1636Thr | missense variant | - | NC_000010.11:g.89762752G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs574555372 | p.His1639Gln | missense variant | - | NC_000010.11:g.89762763C>G | 1000Genomes,ExAC,gnomAD |
rs757096168 | p.Pro1640Ser | missense variant | - | NC_000010.11:g.89762764C>T | ExAC,TOPMed,gnomAD |
rs368820868 | p.Pro1640Arg | missense variant | - | NC_000010.11:g.89762765C>G | ESP,ExAC,TOPMed,gnomAD |
rs773064916 | p.Gly1641Cys | missense variant | - | NC_000010.11:g.89762767G>T | ExAC,TOPMed,gnomAD |
rs1409789695 | p.Cys1642Arg | missense variant | - | NC_000010.11:g.89762770T>C | gnomAD |
rs1471579363 | p.Thr1644Pro | missense variant | - | NC_000010.11:g.89762776A>C | TOPMed,gnomAD |
rs1471579363 | p.Thr1644Ala | missense variant | - | NC_000010.11:g.89762776A>G | TOPMed,gnomAD |
rs372743403 | p.Thr1644Arg | missense variant | - | NC_000010.11:g.89762777C>G | ESP,TOPMed |
rs1201618668 | p.Pro1645Leu | missense variant | - | NC_000010.11:g.89762780C>T | TOPMed |
rs34354493 | p.Lys1649Glu | missense variant | - | NC_000010.11:g.89762791A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1202215706 | p.Lys1649Asn | missense variant | - | NC_000010.11:g.89762793G>T | TOPMed |
rs1348969834 | p.Ile1650Asn | missense variant | - | NC_000010.11:g.89762795T>A | TOPMed,gnomAD |
rs143235231 | p.Lys1652Arg | missense variant | - | NC_000010.11:g.89762801A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs759202813 | p.Ala1653Pro | missense variant | - | NC_000010.11:g.89762803G>C | ExAC,gnomAD |
NCI-TCGA novel | p.Ala1653GlyPheSerTerUnk | stop gained | - | NC_000010.11:g.89762803_89762804insGAGGAGGCTGAGAT | NCI-TCGA |
rs376655083 | p.Arg1654Trp | missense variant | - | NC_000010.11:g.89762806C>T | ESP,ExAC,TOPMed,gnomAD |
rs115570983 | p.Arg1654Gln | missense variant | - | NC_000010.11:g.89762807G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs757599461 | p.Ser1658Asn | missense variant | - | NC_000010.11:g.89762819G>A | ExAC,gnomAD |
rs765766934 | p.Asn1659Asp | missense variant | - | NC_000010.11:g.89762821A>G | ExAC,gnomAD |
rs750945434 | p.Asn1659Ser | missense variant | - | NC_000010.11:g.89762822A>G | ExAC,gnomAD |
rs1452489521 | p.Glu1660Lys | missense variant | - | NC_000010.11:g.89762824G>A | TOPMed |
rs1482768910 | p.Met1661Val | missense variant | - | NC_000010.11:g.89762827A>G | TOPMed,gnomAD |
rs1224912389 | p.Met1661Ile | missense variant | - | NC_000010.11:g.89762829G>A | gnomAD |
rs1213187988 | p.Asp1664Gly | missense variant | - | NC_000010.11:g.89768291A>G | TOPMed |
rs1447403733 | p.Leu1665Val | missense variant | - | NC_000010.11:g.89768293T>G | gnomAD |
rs1210393218 | p.Val1666Ala | missense variant | - | NC_000010.11:g.89768297T>C | gnomAD |
rs751615287 | p.Lys1667Asn | missense variant | - | NC_000010.11:g.89768301A>C | ExAC,TOPMed,gnomAD |
rs755091040 | p.Asn1670Lys | missense variant | - | NC_000010.11:g.89768310T>G | ExAC,gnomAD |
rs1378929667 | p.Lys1671Gln | missense variant | - | NC_000010.11:g.89768311A>C | gnomAD |
rs781388195 | p.Lys1671Arg | missense variant | - | NC_000010.11:g.89768312A>G | ExAC,gnomAD |
rs376717572 | p.Lys1672Arg | missense variant | - | NC_000010.11:g.89768315A>G | ESP,ExAC,gnomAD |
rs1468953564 | p.Thr1675Ala | missense variant | - | NC_000010.11:g.89768323A>G | TOPMed |
COSM4898152 | p.Pro1676Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89768326C>T | NCI-TCGA Cosmic |
rs201898545 | p.Arg1677Thr | missense variant | - | NC_000010.11:g.89768330G>C | ExAC,TOPMed,gnomAD |
rs201898545 | p.Arg1677Ile | missense variant | - | NC_000010.11:g.89768330G>T | ExAC,TOPMed,gnomAD |
rs1015551557 | p.Arg1677Gly | missense variant | - | NC_000010.11:g.89768329A>G | TOPMed |
NCI-TCGA novel | p.Thr1678Ser | missense variant | - | NC_000010.11:g.89768333C>G | NCI-TCGA |
NCI-TCGA novel | p.Leu1680Phe | missense variant | - | NC_000010.11:g.89768340G>T | NCI-TCGA |
rs775151632 | p.Lys1681Asn | missense variant | - | NC_000010.11:g.89768343A>C | ExAC |
rs1373765390 | p.Lys1681Arg | missense variant | - | NC_000010.11:g.89768342A>G | TOPMed,gnomAD |
rs373257085 | p.Pro1683Arg | missense variant | - | NC_000010.11:g.89768348C>G | ESP,ExAC,TOPMed,gnomAD |
COSM3441442 | p.Pro1683Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89768347C>T | NCI-TCGA Cosmic |
rs1187005890 | p.Pro1683Ala | missense variant | - | NC_000010.11:g.89768347C>G | TOPMed |
rs768384923 | p.Ile1684Val | missense variant | - | NC_000010.11:g.89768350A>G | ExAC,gnomAD |
rs1280171802 | p.Ser1685Ter | stop gained | - | NC_000010.11:g.89768354C>A | gnomAD |
rs773398410 | p.Asp1686Tyr | missense variant | - | NC_000010.11:g.89768356G>T | ExAC,gnomAD |
rs763423034 | p.Asp1687Gly | missense variant | - | NC_000010.11:g.89768360A>G | ExAC,TOPMed,gnomAD |
rs1464272867 | p.Asn1689Asp | missense variant | - | NC_000010.11:g.89768365A>G | gnomAD |
COSM3791023 | p.Ser1690Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89768369C>T | NCI-TCGA Cosmic |
rs1197571196 | p.Lys1693Arg | missense variant | - | NC_000010.11:g.89768378A>G | gnomAD |
NCI-TCGA novel | p.Glu1695GlyPheSerTerUnkUnk | frameshift | - | NC_000010.11:g.89768376_89768377insA | NCI-TCGA |
NCI-TCGA novel | p.Val1698Ile | missense variant | - | NC_000010.11:g.89768738G>A | NCI-TCGA |
rs763223975 | p.Ala1699Val | missense variant | - | NC_000010.11:g.89768742C>T | ExAC,gnomAD |
rs546317045 | p.Ile1700Met | missense variant | - | NC_000010.11:g.89768746A>G | 1000Genomes,ExAC,gnomAD |
COSM3807959 | p.Ile1700Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89768745T>A | NCI-TCGA Cosmic |
rs1396472277 | p.Ile1700Val | missense variant | - | NC_000010.11:g.89768744A>G | gnomAD |
rs12413968 | p.Arg1701Cys | missense variant | - | NC_000010.11:g.89768747C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs759971040 | p.Arg1701His | missense variant | - | NC_000010.11:g.89768748G>A | ExAC,TOPMed,gnomAD |
rs764195712 | p.Lys1705Gln | missense variant | - | NC_000010.11:g.89768759A>C | ExAC,gnomAD |
rs764195712 | p.Lys1705Glu | missense variant | - | NC_000010.11:g.89768759A>G | ExAC,gnomAD |
COSM466069 | p.Lys1705Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89768760A>C | NCI-TCGA Cosmic |
rs754143638 | p.Lys1706Glu | missense variant | - | NC_000010.11:g.89768762A>G | ExAC,TOPMed,gnomAD |
rs757562183 | p.Thr1707Ala | missense variant | - | NC_000010.11:g.89768765A>G | ExAC,gnomAD |
rs1031277703 | p.Ser1709Tyr | missense variant | - | NC_000010.11:g.89768772C>A | TOPMed |
rs148623215 | p.Arg1711Trp | missense variant | - | NC_000010.11:g.89768777C>T | ESP,ExAC,TOPMed,gnomAD |
rs758361205 | p.Arg1711Gln | missense variant | - | NC_000010.11:g.89768778G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Arg1711Leu | missense variant | - | NC_000010.11:g.89768778G>T | NCI-TCGA |
rs1168065833 | p.Gln1713Pro | missense variant | - | NC_000010.11:g.89768784A>C | gnomAD |
rs1168065833 | p.Gln1713Arg | missense variant | - | NC_000010.11:g.89768784A>G | gnomAD |
rs1428026468 | p.Gln1713Glu | missense variant | - | NC_000010.11:g.89768783C>G | gnomAD |
rs780086166 | p.Ala1714Pro | missense variant | - | NC_000010.11:g.89768786G>C | ExAC,TOPMed,gnomAD |
rs746470352 | p.Ser1715Ala | missense variant | - | NC_000010.11:g.89768789T>G | ExAC,gnomAD |
rs142040916 | p.Ile1716Thr | missense variant | - | NC_000010.11:g.89768793T>C | ESP,ExAC,gnomAD |
rs1260281879 | p.Ile1716Val | missense variant | - | NC_000010.11:g.89768792A>G | TOPMed |
COSM921334 | p.Ile1716Met | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89768794A>G | NCI-TCGA Cosmic |
rs528668353 | p.Ile1717Met | missense variant | - | NC_000010.11:g.89768797T>G | 1000Genomes |
rs780696522 | p.Val1719Ala | missense variant | - | NC_000010.11:g.89768802T>C | ExAC,gnomAD |
rs895383251 | p.Val1719Ile | missense variant | - | NC_000010.11:g.89768801G>A | TOPMed |
NCI-TCGA novel | p.Asn1720Lys | missense variant | - | NC_000010.11:g.89768806C>A | NCI-TCGA |
rs1298011216 | p.Thr1723Ser | missense variant | - | NC_000010.11:g.89768813A>T | gnomAD |
rs1296232866 | p.Glu1727Lys | missense variant | - | NC_000010.11:g.89768825G>A | gnomAD |
rs1442268474 | p.Thr1729Ile | missense variant | - | NC_000010.11:g.89768832C>T | gnomAD |
rs771181894 | p.Thr1729Ala | missense variant | - | NC_000010.11:g.89768831A>G | TOPMed,gnomAD |
NCI-TCGA novel | p.Gln1731His | missense variant | - | NC_000010.11:g.89768839G>T | NCI-TCGA |
COSM4016549 | p.Lys1732Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89768840A>C | NCI-TCGA Cosmic |
rs921186546 | p.Asp1735Gly | missense variant | - | NC_000010.11:g.89768850A>G | TOPMed |
rs772549830 | p.Gln1738Glu | missense variant | - | NC_000010.11:g.89768858C>G | ExAC,gnomAD |
rs776108059 | p.His1739Arg | missense variant | - | NC_000010.11:g.89768862A>G | ExAC,gnomAD |
rs1250239697 | p.His1739Tyr | missense variant | - | NC_000010.11:g.89768861C>T | gnomAD |
rs1188158080 | p.Pro1741Leu | missense variant | - | NC_000010.11:g.89768868C>T | gnomAD |
rs1322714331 | p.Ile1743Val | missense variant | - | NC_000010.11:g.89768873A>G | TOPMed |
rs1325054690 | p.Gln1745Leu | missense variant | - | NC_000010.11:g.89768880A>T | gnomAD |
rs764172829 | p.Ser1746Ala | missense variant | - | NC_000010.11:g.89768882T>G | ExAC |
rs370718991 | p.Ser1746Leu | missense variant | - | NC_000010.11:g.89768883C>T | ESP,ExAC,TOPMed,gnomAD |
rs146273081 | p.Lys1747Glu | missense variant | - | NC_000010.11:g.89768885A>G | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Lys1747Asn | missense variant | - | NC_000010.11:g.89768887A>T | NCI-TCGA |
rs769072412 | p.Lys1750Asn | missense variant | - | NC_000010.11:g.89772696G>T | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Lys1750Gln | missense variant | - | NC_000010.11:g.89772694A>C | NCI-TCGA |
rs1028258912 | p.Ile1751Val | missense variant | - | NC_000010.11:g.89772697A>G | gnomAD |
rs201409025 | p.Ile1751Met | missense variant | - | NC_000010.11:g.89772699A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1367562995 | p.Ile1752Val | missense variant | - | NC_000010.11:g.89772700A>G | gnomAD |
rs1187927154 | p.Ile1752Thr | missense variant | - | NC_000010.11:g.89772701T>C | TOPMed |
rs573851095 | p.Thr1754Ala | missense variant | - | NC_000010.11:g.89772706A>G | ExAC,gnomAD |
rs1005747354 | p.Met1755Leu | missense variant | - | NC_000010.11:g.89772709A>T | TOPMed |
rs1366281915 | p.Ser1756Asn | missense variant | - | NC_000010.11:g.89772713G>A | gnomAD |
rs150319847 | p.Ser1756Gly | missense variant | - | NC_000010.11:g.89772712A>G | 1000Genomes,ExAC,gnomAD |
rs762828334 | p.Ser1757Pro | missense variant | - | NC_000010.11:g.89772715T>C | ExAC,TOPMed,gnomAD |
rs1271964118 | p.Ser1757Phe | missense variant | - | NC_000010.11:g.89772716C>T | TOPMed |
rs1327571015 | p.Lys1759Glu | missense variant | - | NC_000010.11:g.89772721A>G | gnomAD |
rs1196191921 | p.Leu1760His | missense variant | - | NC_000010.11:g.89772725T>A | TOPMed |
rs751317141 | p.Ser1761Ala | missense variant | - | NC_000010.11:g.89772727T>G | ExAC,gnomAD |
rs1291339298 | p.Asn1762His | missense variant | - | NC_000010.11:g.89772730A>C | TOPMed |
rs767379483 | p.Glu1764Gly | missense variant | - | NC_000010.11:g.89772737A>G | ExAC,gnomAD |
rs1232665100 | p.Ala1765Gly | missense variant | - | NC_000010.11:g.89772740C>G | TOPMed |
rs139378013 | p.Ser1766Gly | missense variant | - | NC_000010.11:g.89772742A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs777401726 | p.Lys1767Thr | missense variant | - | NC_000010.11:g.89772746A>C | ExAC |
rs1253849494 | p.Asn1769Ser | missense variant | - | NC_000010.11:g.89772752A>G | gnomAD |
rs368329596 | p.Gln1772Leu | missense variant | - | NC_000010.11:g.89772761A>T | ESP,ExAC,TOPMed,gnomAD |
rs1286037544 | p.Gln1772Glu | missense variant | - | NC_000010.11:g.89772760C>G | TOPMed |
rs780423330 | p.Pro1773Ser | missense variant | - | NC_000010.11:g.89772763C>T | ExAC,gnomAD |
rs1354193806 | p.Pro1773Arg | missense variant | - | NC_000010.11:g.89772764C>G | TOPMed |
rs769182388 | p.Arg1775Gln | missense variant | - | NC_000010.11:g.89772770G>A | ExAC,TOPMed,gnomAD |
rs781774112 | p.Ala1776Pro | missense variant | - | NC_000010.11:g.89772772G>C | ExAC,gnomAD |
COSM1349734 | p.Lys1777Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89772776A>G | NCI-TCGA Cosmic |
rs146495295 | p.Arg1778Gln | missense variant | - | NC_000010.11:g.89772779G>A | ESP,ExAC,TOPMed,gnomAD |
rs1009246322 | p.Arg1778Trp | missense variant | - | NC_000010.11:g.89772778C>T | TOPMed,gnomAD |
rs770056634 | p.Leu1780Ser | missense variant | - | NC_000010.11:g.89772785T>C | ExAC,gnomAD |
rs1285160504 | p.Tyr1781Phe | missense variant | - | NC_000010.11:g.89772788A>T | gnomAD |
rs773439094 | p.Tyr1781Asn | missense variant | - | NC_000010.11:g.89772787T>A | ExAC,TOPMed,gnomAD |
rs1285160504 | p.Tyr1781Cys | missense variant | - | NC_000010.11:g.89772788A>G | gnomAD |
rs773439094 | p.Tyr1781His | missense variant | - | NC_000010.11:g.89772787T>C | ExAC,TOPMed,gnomAD |
rs763169833 | p.Thr1782Ala | missense variant | - | NC_000010.11:g.89772790A>G | ExAC,gnomAD |
rs771091686 | p.Pro1788Thr | missense variant | - | NC_000010.11:g.89772808C>A | ExAC,gnomAD |
rs771091686 | p.Pro1788Ser | missense variant | - | NC_000010.11:g.89772808C>T | ExAC,gnomAD |
rs774148398 | p.Pro1788Leu | missense variant | - | NC_000010.11:g.89772809C>T | ExAC,gnomAD |
rs3758390 | p.Ile1789Val | missense variant | - | NC_000010.11:g.89772811A>G | ExAC,TOPMed,gnomAD |
rs954123145 | p.Ile1789Thr | missense variant | - | NC_000010.11:g.89772812T>C | TOPMed |
rs140984225 | p.Asp1790Val | missense variant | - | NC_000010.11:g.89772815A>T | ESP |
rs1180920788 | p.Ile1791Thr | missense variant | - | NC_000010.11:g.89772818T>C | gnomAD |
rs1180920788 | p.Ile1791Lys | missense variant | - | NC_000010.11:g.89772818T>A | gnomAD |
rs150021584 | p.Ile1791Val | missense variant | - | NC_000010.11:g.89772817A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs752701199 | p.Ile1791Met | missense variant | - | NC_000010.11:g.89772819A>G | ExAC,TOPMed,gnomAD |
rs201320327 | p.Gly1793Ser | missense variant | - | NC_000010.11:g.89772823G>A | 1000Genomes |
NCI-TCGA novel | p.Gly1793Asp | missense variant | - | NC_000010.11:g.89772824G>A | NCI-TCGA |
rs145242589 | p.Val1795Met | missense variant | - | NC_000010.11:g.89772829G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs571567275 | p.Val1795Gly | missense variant | - | NC_000010.11:g.89772830T>G | 1000Genomes,ExAC,gnomAD |
rs376533308 | p.Gln1800Arg | missense variant | - | NC_000010.11:g.89773984A>G | ESP,ExAC,TOPMed,gnomAD |
rs1271315936 | p.Gln1800His | missense variant | - | NC_000010.11:g.89773985G>C | TOPMed |
rs758082529 | p.Lys1801Glu | missense variant | - | NC_000010.11:g.89773986A>G | ExAC,gnomAD |
rs753144923 | p.His1807Gln | missense variant | - | NC_000010.11:g.89774006C>A | ExAC,TOPMed,gnomAD |
rs1286112721 | p.Ile1809Leu | missense variant | - | NC_000010.11:g.89774010A>C | TOPMed |
rs756642620 | p.Lys1811Arg | missense variant | - | NC_000010.11:g.89774017A>G | ExAC,gnomAD |
rs778476119 | p.Arg1812Ter | stop gained | - | NC_000010.11:g.89774019C>T | ExAC,gnomAD |
rs1325967536 | p.Arg1812Gln | missense variant | - | NC_000010.11:g.89774020G>A | TOPMed,gnomAD |
rs757350037 | p.Arg1813Gln | missense variant | - | NC_000010.11:g.89774023G>A | ExAC,TOPMed,gnomAD |
rs372021958 | p.Arg1813Ter | stop gained | - | NC_000010.11:g.89774022C>T | ESP,ExAC,TOPMed,gnomAD |
rs779186213 | p.Leu1814Phe | missense variant | - | NC_000010.11:g.89774025C>T | ExAC,gnomAD |
rs202099671 | p.Arg1815Ter | stop gained | - | NC_000010.11:g.89774028C>T | ExAC,TOPMed,gnomAD |
COSM198308 | p.Arg1815Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.89774029G>A | NCI-TCGA Cosmic |
rs772307724 | p.Thr1818Lys | missense variant | - | NC_000010.11:g.89774038C>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Thr1818GlnPheSerTerUnkUnk | frameshift | - | NC_000010.11:g.89774033A>- | NCI-TCGA |
NCI-TCGA novel | p.Thr1818AsnPheSerTerUnkUnk | frameshift | - | NC_000010.11:g.89774032_89774033insA | NCI-TCGA |
rs775213487 | p.Ala1819Thr | missense variant | - | NC_000010.11:g.89774040G>A | ExAC,gnomAD |
rs962046645 | p.Ala1819Val | missense variant | - | NC_000010.11:g.89774041C>T | TOPMed |
rs375603161 | p.Lys1820Glu | missense variant | - | NC_000010.11:g.89774043A>G | ESP,ExAC,TOPMed,gnomAD |
rs1245786437 | p.Ter1821Unk | stop lost | - | NC_000010.11:g.89774046del | gnomAD |
rs1446026362 | p.Ter1821Tyr | stop lost | - | NC_000010.11:g.89774048A>T | TOPMed,gnomAD |
Disease ID | Disease Name | Disease Type | Source |
---|---|---|---|
C0005684 | Malignant neoplasm of urinary bladder | disease | BEFREE |
C0005695 | Bladder Neoplasm | group | BEFREE |
C0006142 | Malignant neoplasm of breast | disease | BEFREE |
C0017636 | Glioblastoma | disease | BEFREE |
C0025958 | Microcephaly | disease | MGD |
C0524851 | Neurodegenerative Disorders | group | BEFREE |
C0596263 | Carcinogenesis | phenotype | BEFREE |
C0678222 | Breast Carcinoma | disease | BEFREE |
C0699885 | Carcinoma of bladder | disease | BEFREE |
C1458155 | Mammary Neoplasms | group | BEFREE |
C2239176 | Liver carcinoma | disease | BEFREE |
GO ID | GO Term | Evidence |
---|---|---|
GO:0003777 | microtubule motor activity | IBA |
GO:0005515 | protein binding | IPI |
GO:0005524 | ATP binding | IEA |
GO:0008017 | microtubule binding | IDA |
GO:0008017 | microtubule binding | IBA |
GO:0008574 | ATP-dependent microtubule motor activity, plus-end-directed | IDA |
GO:0016887 | ATPase activity | IDA |
GO:0016887 | ATPase activity | IBA |
GO:0042803 | protein homodimerization activity | IDA |
GO:0050699 | WW domain binding | IPI |
GO ID | GO Term | Evidence |
---|---|---|
GO:0001843 | neural tube closure | IEA |
GO:0007018 | microtubule-based movement | IBA |
GO:0007050 | cell cycle arrest | NAS |
GO:0007088 | regulation of mitotic nuclear division | NAS |
GO:0008284 | positive regulation of cell population proliferation | ISS |
GO:0008284 | positive regulation of cell population proliferation | IMP |
GO:0032467 | positive regulation of cytokinesis | IMP |
GO:0035372 | protein localization to microtubule | ISS |
GO:0048812 | neuron projection morphogenesis | ISS |
GO:0051301 | cell division | IEA |
GO:0090316 | positive regulation of intracellular protein transport | ISS |
GO:1903438 | positive regulation of mitotic cytokinetic process | ISS |
GO:2000114 | regulation of establishment of cell polarity | ISS |
GO:2001224 | positive regulation of neuron migration | ISS |
GO ID | GO Term | Evidence |
---|---|---|
GO:0005634 | nucleus | IDA |
GO:0005634 | nucleus | IBA |
GO:0005654 | nucleoplasm | IDA |
GO:0005730 | nucleolus | IDA |
GO:0005737 | cytoplasm | IDA |
GO:0005813 | centrosome | IDA |
GO:0005829 | cytosol | IDA |
GO:0005871 | kinesin complex | IBA |
GO:0005874 | microtubule | IBA |
GO:0030426 | growth cone | IEA |
GO:0030496 | midbody | ISS |
GO:0030496 | midbody | IDA |
GO:0045171 | intercellular bridge | IDA |
GO:0048471 | perinuclear region of cytoplasm | ISS |
GO:0051233 | spindle midzone | ISS |
GO:0070938 | contractile ring | IDA |
GO:0097431 | mitotic spindle pole | IDA |
GO:1990023 | mitotic spindle midzone | IDA |
Reactome ID | Reactome Term | Evidence |
---|---|---|
R-HSA-109582 | Hemostasis | TAS |
R-HSA-199991 | Membrane Trafficking | TAS |
R-HSA-5653656 | Vesicle-mediated transport | TAS |
R-HSA-6811434 | COPI-dependent Golgi-to-ER retrograde traffic | TAS |
R-HSA-6811442 | Intra-Golgi and retrograde Golgi-to-ER traffic | TAS |
R-HSA-8856688 | Golgi-to-ER retrograde transport | TAS |
R-HSA-983189 | Kinesins | TAS |
R-HSA-983231 | Factors involved in megakaryocyte development and platelet production | TAS |
ID | Drug Name | Action | PubMed |
---|---|---|---|
C026486 | 1,2,5,6-dibenzanthracene | 1,2,5,6-dibenzanthracene results in increased expression of KIF20B mRNA | 26377693 |
C028474 | 1,4-bis(2-(3,5-dichloropyridyloxy))benzene | 1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in increased expression of KIF20B mRNA | 22698814; 28903501; |
D015655 | 1-Methyl-4-phenylpyridinium | 1-Methyl-4-phenylpyridinium results in decreased expression of KIF20B mRNA | 24810058 |
D015058 | 1-Naphthylisothiocyanate | 1-Naphthylisothiocyanate results in increased expression of KIF20B mRNA | 30723492 |
C029790 | 2,2',3',4,4',5-hexachlorobiphenyl | [2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of KIF20B mRNA | 25510870 |
C063002 | 2,3-dimethoxy-1,4-naphthoquinone | 2,3-dimethoxy-1,4-naphthoquinone results in increased expression of KIF20B mRNA | 19031421 |
C081766 | 2,4,4'-trichlorobiphenyl | [2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of KIF20B mRNA | 25510870 |
C014024 | 2,4,5,2',4',5'-hexachlorobiphenyl | [2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of KIF20B mRNA | 25510870 |
C009828 | 2,4,5,2',5'-pentachlorobiphenyl | [2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of KIF20B mRNA | 25510870 |
C009407 | 2,5,2',5'-tetrachlorobiphenyl | [2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of KIF20B mRNA | 25510870 |
C027576 | 4-hydroxy-2-nonenal | 4-hydroxy-2-nonenal results in decreased expression of KIF20B mRNA | 19191707 |
C082164 | 4-methoxycinnamate methyl ester | 4-methoxycinnamate methyl ester promotes the reaction [Thapsigargin results in increased expression of KIF20B mRNA] | 19442820 |
D015123 | 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of KIF20B mRNA | 20382639 |
D000082 | Acetaminophen | Acetaminophen results in increased expression of KIF20B mRNA | 22230336 |
D020106 | Acrylamide | Acrylamide results in increased expression of KIF20B mRNA | 28959563 |
C006418 | adrenocorticotropin zinc | adrenocorticotropin zinc results in decreased expression of KIF20B mRNA | 19920212 |
D016604 | Aflatoxin B1 | Aflatoxin B1 affects the expression of KIF20B protein | 20106945 |
D016604 | Aflatoxin B1 | Aflatoxin B1 results in decreased methylation of KIF20B gene | 27153756 |
D016604 | Aflatoxin B1 | Aflatoxin B1 results in increased expression of KIF20B mRNA | 23630614; 25378103; |
C000593263 | afuresertib | afuresertib results in decreased expression of KIF20B mRNA | 28960945 |
D000393 | Air Pollutants | Air Pollutants analog results in decreased expression of KIF20B mRNA | 21757418 |
D001241 | Aspirin | Aspirin results in decreased expression of KIF20B mRNA | 11906190 |
D001280 | Atrazine | Atrazine results in increased expression of KIF20B mRNA | 22982499 |
C105832 | aurapten | aurapten affects the expression of KIF20B mRNA | 23320178 |
D001379 | Azathioprine | Azathioprine results in decreased expression of KIF20B mRNA | 22623647 |
C006703 | benzo(b)fluoranthene | benzo(b)fluoranthene results in increased expression of KIF20B mRNA | 26377693 |
C006780 | bisphenol A | bisphenol A results in decreased expression of KIF20B mRNA | 29275510 |
C006780 | bisphenol A | bisphenol A results in decreased expression of KIF20B mRNA | 25181051 |
C005961 | bis(tri-n-butyltin)oxide | bis(tri-n-butyltin)oxide results in increased phosphorylation of KIF20B protein | 22174045 |
C018475 | butyraldehyde | butyraldehyde results in decreased expression of KIF20B mRNA | 26079696 |
D019256 | Cadmium Chloride | Cadmium Chloride results in decreased expression of KIF20B mRNA | 24982889 |
D019256 | Cadmium Chloride | Cadmium Chloride results in decreased expression of KIF20B mRNA | 25993096 |
C040048 | caffeic acid | caffeic acid promotes the reaction [Thapsigargin results in increased expression of KIF20B mRNA] | 19442820 |
D002117 | Calcitriol | Calcitriol results in decreased expression of KIF20B mRNA | 21592394 |
D002117 | Calcitriol | [Testosterone co-treated with Calcitriol] results in decreased expression of KIF20B mRNA | 21592394 |
D002251 | Carbon Tetrachloride | Carbon Tetrachloride affects the expression of KIF20B mRNA | 17484886 |
D002945 | Cisplatin | Cisplatin results in increased phosphorylation of KIF20B protein | 22006019 |
D019327 | Copper Sulfate | Copper Sulfate results in decreased expression of KIF20B mRNA | 19549813 |
C030973 | cupric oxide | cupric oxide results in decreased expression of KIF20B mRNA | 22077320 |
D016572 | Cyclosporine | Cyclosporine results in decreased expression of KIF20B mRNA | 20106945; 25562108; |
D000069439 | Dasatinib | Dasatinib results in decreased expression of KIF20B mRNA | 20579391 |
D003976 | Diazinon | Diazinon affects the expression of KIF20B mRNA | 22546817 |
D003999 | Dichloroacetic Acid | Dichloroacetic Acid results in increased expression of KIF20B mRNA | 28962523 |
C000944 | dicrotophos | dicrotophos results in decreased expression of KIF20B mRNA | 28302478 |
D004026 | Dieldrin | Dieldrin affects the expression of KIF20B mRNA | 22546817 |
D004365 | Drugs, Chinese Herbal | Drugs, Chinese Herbal promotes the reaction [Thapsigargin results in increased expression of KIF20B mRNA] | 19442820 |
C045651 | epigallocatechin gallate | [potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of KIF20B mRNA | 22079256 |
C472787 | erucylphospho-N,N,N-trimethylpropylammonium | erucylphospho-N,N,N-trimethylpropylammonium results in decreased expression of KIF20B mRNA | 29464035 |
D004918 | Erythromycin Estolate | Erythromycin Estolate results in decreased expression of KIF20B mRNA | 24412560 |
D004918 | Erythromycin Estolate | Erythromycin Estolate results in increased expression of KIF20B mRNA | 24412560 |
C069837 | fullerene C60 | fullerene C60 results in increased expression of KIF20B mRNA | 19167457 |
C039281 | furan | furan results in increased expression of KIF20B mRNA | 25539665 |
C004312 | glycidol | glycidol results in increased expression of KIF20B mRNA | 24915197 |
D006861 | Hydrogen Peroxide | Hydrogen Peroxide affects the expression of KIF20B mRNA | 20044591 |
C492448 | ICG 001 | ICG 001 results in decreased expression of KIF20B mRNA | 26191083 |
C545476 | incobotulinumtoxinA | incobotulinumtoxinA results in decreased expression of KIF20B mRNA | 29522793 |
D015759 | Ionomycin | [Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of KIF20B mRNA | 25613284 |
D007854 | Lead | Lead affects the expression of KIF20B mRNA | 28903495 |
D000077339 | Leflunomide | Leflunomide results in decreased expression of KIF20B mRNA | 28988120 |
D008154 | Lucanthone | Lucanthone results in decreased expression of KIF20B mRNA | 21148553 |
D058185 | Magnetite Nanoparticles | [Succimer binds to Magnetite Nanoparticles] which results in decreased expression of KIF20B mRNA | 21641980 |
C008493 | methylselenic acid | methylselenic acid results in decreased expression of KIF20B mRNA | 12517777 |
C406082 | monomethylarsonous acid | monomethylarsonous acid results in decreased expression of KIF20B protein | 24625837 |
D009151 | Mustard Gas | Mustard Gas results in decreased expression of KIF20B mRNA | 25102026 |
D037742 | Nanotubes, Carbon | Nanotubes, Carbon analog results in increased expression of KIF20B mRNA | 25554681 |
D037742 | Nanotubes, Carbon | Nanotubes, Carbon results in increased expression of KIF20B mRNA | 25554681 |
C029938 | nickel sulfate | nickel sulfate results in decreased expression of KIF20B mRNA | 22714537 |
C570897 | NSC668394 | NSC668394 results in decreased expression of KIF20B mRNA | 27137931 |
D000077150 | Oxaliplatin | [Oxaliplatin co-treated with Topotecan] results in decreased expression of KIF20B mRNA | 25729387 |
D000077150 | Oxaliplatin | Oxaliplatin results in decreased expression of KIF20B mRNA | 25729387 |
D010100 | Oxygen | Oxygen deficiency results in decreased expression of KIF20B mRNA | 26516004 |
D010126 | Ozone | [NOTCH3 gene mutant form affects the susceptibility to Ozone] which results in increased expression of KIF20B mRNA | 25658374 |
D052638 | Particulate Matter | Particulate Matter results in decreased expression of KIF20B mRNA | 15046786 |
C410127 | PCB 180 | [2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of KIF20B mRNA | 25510870 |
D010629 | Phenformin | Phenformin results in decreased expression of KIF20B mRNA | 31324951 |
D010634 | Phenobarbital | Phenobarbital affects the expression of KIF20B mRNA | 23091169 |
C006253 | pirinixic acid | [pirinixic acid co-treated with PPARA] results in increased expression of KIF20B mRNA | 20813756 |
C006253 | pirinixic acid | pirinixic acid results in increased expression of KIF20B mRNA | 20813756; 23811191; |
D010936 | Plant Extracts | Plant Extracts results in increased expression of KIF20B mRNA | 23557933 |
C027373 | potassium chromate(VI) | [potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of KIF20B mRNA | 22079256 |
C027373 | potassium chromate(VI) | potassium chromate(VI) results in decreased expression of KIF20B mRNA | 22079256 |
D017035 | Pravastatin | Pravastatin affects the expression of KIF20B mRNA | 27225895 |
D017035 | Pravastatin | Pravastatin results in decreased expression of KIF20B mRNA | 27225895 |
C005556 | propionaldehyde | propionaldehyde results in decreased expression of KIF20B mRNA | 26079696 |
D011691 | Puromycin | [Tretinoin co-treated with Puromycin] results in increased expression of KIF20B mRNA | 15977162 |
D011794 | Quercetin | Quercetin results in decreased expression of KIF20B mRNA | 15309432 |
D012402 | Rotenone | Rotenone results in decreased expression of KIF20B mRNA | 28374803 |
C017947 | sodium arsenite | sodium arsenite results in decreased expression of KIF20B mRNA | 22714537 |
D053260 | Soot | Soot results in increased expression of KIF20B mRNA | 26551751 |
C075117 | squalestatin 1 | squalestatin 1 results in decreased expression of KIF20B mRNA | 27225895 |
D004113 | Succimer | [Succimer binds to Magnetite Nanoparticles] which results in decreased expression of KIF20B mRNA | 21641980 |
D000077210 | Sunitinib | Sunitinib results in decreased expression of KIF20B mRNA | 31533062 |
D013739 | Testosterone | [Testosterone co-treated with Calcitriol] results in decreased expression of KIF20B mRNA | 21592394 |
D013739 | Testosterone | Testosterone results in decreased expression of KIF20B mRNA | 21592394 |
D013749 | Tetrachlorodibenzodioxin | Tetrachlorodibenzodioxin results in decreased expression of KIF20B mRNA | 21802500 |
D013750 | Tetrachloroethylene | Tetrachloroethylene results in decreased expression of KIF20B mRNA | 28973375 |
D013755 | Tetradecanoylphorbol Acetate | Tetradecanoylphorbol Acetate results in increased expression of KIF20B mRNA | 19031421 |
D013755 | Tetradecanoylphorbol Acetate | [Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of KIF20B mRNA | 25613284 |
D019284 | Thapsigargin | 4-methoxycinnamate methyl ester promotes the reaction [Thapsigargin results in increased expression of KIF20B mRNA] | 19442820 |
D019284 | Thapsigargin | caffeic acid promotes the reaction [Thapsigargin results in increased expression of KIF20B mRNA] | 19442820 |
D019284 | Thapsigargin | Drugs, Chinese Herbal promotes the reaction [Thapsigargin results in increased expression of KIF20B mRNA] | 19442820 |
D019284 | Thapsigargin | Thapsigargin results in increased expression of KIF20B mRNA | 19442820 |
D013853 | Thioacetamide | Thioacetamide results in increased expression of KIF20B mRNA | 23411599 |
C009495 | titanium dioxide | titanium dioxide results in increased expression of KIF20B mRNA | 30012374 |
D019772 | Topotecan | [Oxaliplatin co-treated with Topotecan] results in decreased expression of KIF20B mRNA | 25729387 |
D019772 | Topotecan | Topotecan results in decreased expression of KIF20B mRNA | 25729387 |
D014212 | Tretinoin | [Tretinoin co-treated with Puromycin] results in increased expression of KIF20B mRNA | 15977162 |
D014241 | Trichloroethylene | Trichloroethylene results in increased expression of KIF20B mRNA | 25549359 |
C015559 | trimellitic anhydride | trimellitic anhydride results in increased expression of KIF20B mRNA | 19042947 |
C016805 | tris(1,3-dichloro-2-propyl)phosphate | tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of KIF20B mRNA | 26179874 |
D000077288 | Troglitazone | Troglitazone results in decreased expression of KIF20B mRNA | 19140230 |
D014635 | Valproic Acid | Valproic Acid results in decreased expression of KIF20B mRNA | 19949822; 23179753; 27188386; |
D014638 | Vanadates | Vanadates results in decreased expression of KIF20B mRNA | 22714537 |
D001335 | Vehicle Emissions | Vehicle Emissions results in decreased expression of KIF20B mRNA | 15046786 |
D001335 | Vehicle Emissions | Vehicle Emissions results in increased methylation of KIF20B gene | 25560391 |
Keyword ID | Keyword Term |
---|---|
KW-0025 | Alternative splicing |
KW-0067 | ATP-binding |
KW-0131 | Cell cycle |
KW-0132 | Cell division |
KW-0966 | Cell projection |
KW-0175 | Coiled coil |
KW-0963 | Cytoplasm |
KW-0206 | Cytoskeleton |
KW-0493 | Microtubule |
KW-0498 | Mitosis |
KW-0505 | Motor protein |
KW-0547 | Nucleotide-binding |
KW-0539 | Nucleus |
KW-0553 | Oncogene |
KW-0597 | Phosphoprotein |
KW-0621 | Polymorphism |
KW-1185 | Reference proteome |
Pfam ID | Pfam Term |
---|---|
PF00225 | Kinesin |